| Quantitative analysis of limb anomalies in CHARGE syndrome: Correlation with diagnosis and characteristic CHARGE anomalies |
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| Two novel mutations of <i>PTEN</i> gene in Japanese patients with Cowden syndrome |
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✓ |
✓ |
Japanese; Western countries |
| Thirteen‐year‐follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al. |
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| Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype |
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| Book review |
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| Pachygyria and cerebellar hypoplasia in a patient with a 2q22‐q23 deletion that includes the <i>ZFHX1B</i> gene |
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| A prenatally diagnosed patient with full monosomy 21: Ultrasound, cytogenetic, clinical, molecular, and necropsy findings |
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| Patterson–Lowry rhizomelic dysplasia: Report of two new patients |
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| 22q11.2 deletion syndrome and selective igm deficiency: An association of a common chromosomal abnormality with a rare immunodeficiency |
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| First non‐mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter → q22.1::q22.1 → pter) Is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q− syndrome |
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| Ectodermal dysplasia with tetramelic deficiencies and no mutation in <i>p63</i>: Odontotrichomelic syndrome or a new entity? |
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| Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies |
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✓ |
✓ |
African‐American |
| Association between 7q31 markers and tourette syndrome |
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✓ |
✓ |
French Canadian |
| Relation between oculo‐auriculo‐vertebral (OAV) dysplasia and three other non‐random associations of malformations (VATER, CHARGE, and OEIS) |
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| Maternal metabolic phenotype and risk of down syndrome: Beyond genetics |
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| Cutaneous T‐cell lymphoma in a 21‐year‐old male with Wolf–Hirschhorn syndrome |
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| Maternal UPD(14) in the patient with a normal karyotype: Clinical report and a systematic search for cases in samples sent for testing for Prader–Willi syndrome |
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| Book review |
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| Distal arthrogryposis type IIB: Unreported ophthalmic findings |
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✓ |
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| Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population |
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✓ |
✓ |
Japanese population |
| Solitary median maxillary central incisor syndrome: Clinical case with a novel mutation of sonic hedgehog |
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| Contribution of malformations and genetic disorders to mortality in a children's hospital |
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| Commentary on Robin's <i>a smile</i>, and the need for counseling skills in the clinic |
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| Prenatal diagnosis of a rare inherited heterochromatic variant chromosome 4 |
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✓ |
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| Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21) |
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| Two new cases of Barraquer–Simons syndrome |
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| Catalogue of unbalanced chromosome aberrations in man |
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| Prenatal diagnosis of a heterozygous carrier of premature chromatid separation (PCS) trait |
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| Duplication of the distal long arm of chromosome 15: Report of three new patients and review of the literature |
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| Does autosomal dominant pseudoxanthoma elasticum exist? |
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| Response to Kessler and Resta's commentary |
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| Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement |
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| Premature chromatid separation (PCS) vs. premature centromere division (PCD) |
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| Frequency of neural tube defects and down syndrome in the same sibship: Analysis of the Spanish ongoing case‐control study |
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| Ellis‐van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p |
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| Congenital diaphragmatic hernia: Is 15q26.1‐26.2 a candidate locus? |
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| Book review |
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| Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: Further evidence for a putative gene on 4q |
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| Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero |
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| Phenotypical variation in cousins with the identical partial trisomy 9 (pter‐q22.2) and 7 (q35‐qter) at 16 and 23 weeks gestation |
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| Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different |
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| Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation |
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| Evaluation of the <i>Cited2</i> gene and risk for spina bifida and congenital heart defects |
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| <i>UBE3A</i> gene mutations in finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis |
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✓ |
✓ |
Finnish |
| Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism |
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| A syndrome with multiple malformations, mental retardation, and ACTH deficiency |
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| Genome‐scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey |
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✓ |
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✓ |
✓ |
✓ |
European Caucasian populations; Turkish Caucasian CL/P families |
| Phenotypic manifestations of <i>MECP2</i> mutations in classical and atypical rett syndrome |
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| Evaluation of the jumonji gene and risk for spina bifida and congenital heart defects |
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| Mental retardation, Robin sequence, and brachydactyly: Further confirmation of a new syndrome |
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| Mosaic supernumerary inv dup(15) chromosome with four copies of the <i>P</i> gene in a boy with pigmentary dysplasia |
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| Impact on couple relationships of predictive testing for Huntington disease: A longitudinal study |
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| Sibpair studies implicate chromosome 18 in essential hypertension |
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✓ |
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| Exclusion of candidate genes in a family with arterial tortuosity syndrome |
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✓ |
✓ |
Italian |
| Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34‐year‐old patient with Jacobsen syndrome |
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| von Voss‐Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development |
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| Slow progression of ataxia‐telangiectasia with double missense and in frame splice mutations |
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| Further early historical evidence of Down syndrome |
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| Prenatal diagnosis of tetrasomy 9p |
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| Anthropometric characteristics of X‐linked hypophosphatemia |
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✓ |
✓ |
Polish population control values |
| Attitudes and psychosocial adjustment of unaffected siblings of patients with phenylketonuria |
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| A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13 |
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| Couples' experiences of predictive testing and living with the risk or reality of Huntington disease: A qualitative study |
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| Molecular cytogenetic analysis of a <i>de novo</i> balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations |
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| Soft‐tissue facial areas and volumes in individuals with ectodermal dysplasia: A three‐dimensional non invasive assessment |
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| Cloacal exstrophy in an infant with 9q34.1‐qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq |
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| Marshall‐Smith syndrome: Follow‐up report of a four and a half year old male |
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| Ectopia lentis phenotypes and the <i>FBN1</i> gene |
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| Unilateral linear hyperpigmentation of the skin with ipsilateral sectorial hyperpigmentation of the retina |
|
✓ |
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| Preimplantation genetic diagnosis of human congenital heart malformation and Holt–Oram syndrome |
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| Mosaicism of a <i>TCOF1</i> mutation in an individual clinically unaffected with treacher collins syndrome |
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| Recurrence risk of preeclampsia in twin and singleton pregnancies |
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| Concerning “14q(22) deletion in a familial case of anophthalmia with polydactyly” |
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| Re: Clinical report by Ahmad et al. 14q(22) deletion in a familial case of anophthalmia with polydactyly |
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| In response to Dr. Carlos A. Bacino and Dr. Gopalrao V.N. Velagaleti concerning “14q(22) deletion in a familial case of anophthalmia with polydactyly” |
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| Macrocephaly‐cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations |
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| A novel type of autosomal recessive syndactyly: Clinical and molecular studies in a family of Pakistani origin |
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✓ |
✓ |
Pakistani; Turkish |
| Book review |
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| A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities |
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| XX‐agonadism in a fetus with multiple congenital anomalies |
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| Psychosocial impact of predictive testing for myotonic dystrophy type 1 |
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| Five haplotypes account for fifty‐five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: Seven new mutations |
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| Mitotic index in down's syndrome with and without dementia |
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| Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis |
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| Naming of a syndrome: The story of “Adam Wright” syndrome |
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| Hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: A case report |
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| Fragile X carrier screening and spinocerebellar ataxia in older males |
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| Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype |
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| Segregation analysis of bronchial hyperresponsiveness in a general population in north italy |
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| A diagnostic conundrum: Two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome? |
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| Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses |
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| Limb deficiency defects, <i>MSX1</i>, and exposure to tobacco smoke |
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| Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation |
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| Spectrum of genetic alterations in Muir‐Torre syndrome is the same as in HNPCC |
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| Unilateral radio‐ulnar synostosis, generalized hypotonia, and developmental delay with a characteristic facial appearance: A further case report |
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| Aplasia cutis congenita, polythelia, microcephaly, and developmental delay: A unique expression of polytopic field defect involving possible ‘paradominant’ inheritance? |
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| Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal |
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| Neu–Laxova syndrome: Detailed prenatal diagnostic and post‐mortem findings and literature review |
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| An investigation of the disclosure process and support needs of <i>BRCA1</i> and <i>BRCA2</i> carriers |
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| Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients |
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| Novel mutation in the <i>SLC19A2</i> gene in an African‐American female with thiamine‐responsive megaloblastic anemia syndrome |
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✓ |
✓ |
African-American |
| Congenital malformations in births with orofacial clefts among 3.6 million California births, 1983–1997 |
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| Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family |
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✓ |
✓ |
Lebanese–Arab family; Lebanese population |
| Eye abnormalities in Fryns syndrome |
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| Book review |
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| Patient follow‐up is a major problem at genetics clinics |
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| Human disorganization complex, as a polytopic blastogenesis defect: A new case |
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| Investigation of <i>UBE3A</i> and <i>MECP2</i> in Angelman syndrome (AS) and patients with features of AS |
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| Translocation (Y;22) resulting in the loss of SHOX and isolated short stature |
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| Analysis of neurofibromatosis 1 (NF1) lesions by body segment |
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| Mitochondrial myopathy and sideroblastic anemia |
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| Long‐term follow‐up of three individuals with Kabuki syndrome |
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| Sporadic case of bilateral fusion of metacarpal 4 and 5 |
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| Poland anomaly: Not unilateral or bilateral but mosaic |
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| Reply to correspondence from van Steensel—“Poland anomaly: Not unilateral or bilateral, but mosaic” |
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| Hallerman–Streiff syndrome: Patient with decreased GH and insulin‐like growth factor‐1 |
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| Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia |
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✓ |
✓ |
✓ |
neighboring European countries; across Europe; European countries; general population; ethnic origin; Eastern Mediterranean; island and mountain region close to the Ad |
| Autosomal trisomy and maternal use of multivitamin supplements |
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|
✓ |
✓ |
maternal race |
| Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromes |
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| Joubert syndrome: A haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (<i>ZIC1</i>) gene |
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|
✓ |
✓ |
Arabian origin |
| Probable new syndrome in a Mexican family with congenital palmar polyonychia and postaxial limb defects |
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|
✓ |
✓ |
Mexican |
| Characterization of breakpoints in the <i>GABRG3</i> and <i>TSPY</i> genes in a family with a t(Y;15)(p11.2;q12) |
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| Book review |
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| Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment |
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| Founder effect for the T93M<i>DHCR7</i>mutation in Smith‐Lemli‐Opitz syndrome |
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|
✓ |
✓ |
Mediterranean ancestry; Ukrainian/Irish ancestry; ancestors originate in the region of the Mediterra |
| 47,XXX associated with malformations |
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| A new type of autosomal recessive spondyloepiphyseal dysplasia tarda |
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| Screening adherence in BRCA1/2 families is associated with primary physicians' behavior |
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|
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| X‐linked spondyloepiphyseal dysplasia tarda: A novel <i>SEDL</i> mutation in a Jewish Ashkenazi family and clinical intervention considerations |
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|
✓ |
✓ |
Jewish-Ashkenazi ancestry |
| Turner syndrome phenotype with 47,XXX karyotype: Further investigation warranted? |
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| Reply to correspondence from Haverty et al.—“47,XXX associated with major malformations” |
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| A case of Yunis–Varon syndrome complicated with complete cleft lip and palate |
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| Septo‐optic dysplasia and amniotic bands: Further evidence for a vascular pathogenesis |
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| Unbalanced cryptic 5p deletion/17p duplication identified by subtelomeric FISH in a family with a boy with chimerism and a balanced t(4;5) |
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| Nonsyndromic cleft lip and palate: Four chromosomal regions of interest |
|
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|
|
✓ |
✓ |
multiplex families from China; United States (incidence referenced) |
| Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families |
|
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|
✓ |
✓ |
Asian populations; Filipino families |
| Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate |
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| A 23‐year‐old woman with down syndrome, type 1 neurofibromatosis, and breast carcinoma |
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| Post‐natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age: A new syndrome? |
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| Physical activity and angiotensin‐converting enzyme gene polymorphism in mild hypertensives |
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|
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| Mutations in the optineurin gene in Japanese patients with primary open‐angle glaucoma and normal tension glaucoma |
|
✓ |
|
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|
|
| Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo‐Morquio type II syndrome): Report of a new patient and review of the literature |
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| Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12 |
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| Distal arthrogryposis in two sisters born to different fathers |
|
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| Submicroscopic deletion 9(q34.4) and duplication 19(p13.3): Identified by subtelomere specific FISH probes |
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| Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader–Willi syndrome: A new case and review of the literature |
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| Diaphragmatic hernia in 18p‐ syndrome |
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| Atypical phenotype and intrafamilial variability associated with a novel <i>SALL1</i> mutation |
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| Book Review |
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| A family with X‐linked recessive fusion of metacarpals IV and V |
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| Specific clinical and brain MRI features in mentally retarded patients with mutations in the <i>Oligophrenin‐1</i> gene |
|
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| Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation |
|
✓ |
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| Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1 |
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| Pre‐ and postnatal diagnosis of limb anomalies: A series of 107 cases |
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| Impact of <i>BRCA1/2</i> testing and disclosure of a positive test result on women affected and unaffected with breast or ovarian cancer |
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| Fryns syndrome: A review of the phenotype and diagnostic guidelines |
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| Down syndrome adults |
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| Constitutional trisomy 8 mosaicism due to meiosis II non‐disjunction in a phenotypically normal woman with hematologic abnormalities |
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| Growth hormone deficiency (GHD): A new association in Peters' plus syndrome (PPS) |
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| Does the P172H mutation at the <i>TM4SF2</i> gene cause X‐linked mental retardation? |
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| Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness |
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| Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of <i>RB1</i> and neighbor genes on chromosome 13q14 |
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| Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy |
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| Antenatal manifestations of Smith‐Lemli‐Opitz (RSH) syndrome: A retrospective survey of 30 cases |
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| Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation |
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| New 19 bp deletion polymorphism in intron‐1 of dihydrofolate reductase (DHFR): A risk factor for spina bifida acting in mothers during pregnancy? |
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| Book Review |
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| Hypothyroidism in Down syndrome: Screening guidelines and testing methodology |
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| Prader–Willi syndrome: Causes of death in an international series of 27 cases |
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| Two cases of tetrasomy 9p syndrome with tissue limited mosaicism |
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| Molecular Analysis of Cancer, by J. Boultwood and C. Fidler |
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| A unique patient with an Ullrich–Turner syndrome variant and mosaicism for a tiny r(X) and a partial proximal duplication 1q |
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| Premature centromere division versus C‐anaphases in cultures: Need for consensus and guidelines |
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| Association of nonsyndromic Wilms tumor with premature centromere division |
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| Gonadal mosaicism in severe Pallister–Hall syndrome |
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| Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: Report of a new family with additional features and review |
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| What is IFAP syndrome? |
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| Bilaterally asymmetric effects of quantitative trait loci (QTLs): QTLs that affect laxity in the right versus left coxofemoral (hip) joints of the dog (<i>Canis familiaris</i>) |
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| Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d‐transposition of the great arteries |
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| Complex chromosome re‐arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation |
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| Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat |
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| Autosomal recessive frontotemporal pachygyria |
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| Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation |
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| Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes |
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| A new mutation in the skeletal ryanodine receptor gene (<i>RYR1</i>) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation |
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| Onset and progression of disease in familial and sporadic Parkinson's disease |
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| <i>FOXC1</i> gene deletion is associated with eye anomalies in ring chromosome 6 |
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| “Everybody in the world is my friend” hypersociability in young children with Williams syndrome |
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| Kousseff syndrome: A causally heterogeneous disorder |
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| Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome |
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| Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies |
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| Cosegregation of C‐insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss |
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✓ |
✓ |
Chinese |
| A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly |
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| Facial hemangioma and malformation of the cortical development: A broadening of the PHACE spectrum or a new entity? |
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| Partial duplication 2p as the sole abnormality in two cases with anencephaly |
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| Search for somatic 22q11.2 deletions in patients with conotruncal heart defects |
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| Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent‐1 segregants |
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| Re: Article by Kamath et al.—“Facial features in Alagille Syndrome” |
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| Canavan disease: Carrier‐frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay |
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✓ |
✓ |
Ashkenazi Jewish (AJ) population |
| Reply to correspondence from Sokol |
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| Immunohistochemical FMRP studies in a full mutated female fetus |
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| Results of a genome‐wide linkage scan for stuttering |
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general outbred population of North America and Europe |
| The 10q24‐linked split hand/split foot syndrome (SHFM3): Narrowing of the critical region and confirmation of the clinical phenotype |
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| Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia |
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| A girl with duplication 17p10‐p12 associated with a dicentric chromosome |
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| Response to Moirand et al.—“HFE based re‐evaluation of heterozygous hemochromatosis” |
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| A case of Costello with parathyroid adenoma and hyperprolactinemia |
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| Interstitial deletion 9q22.32‐q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin–Goltz syndrome and features of Nail‐Patella syndrome |
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| Unexpected death and critical illness in Prader–Willi syndrome: Report of ten individuals |
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| New syndrome: Focal dermal hypoplasia, morning glory anomaly, and polymicrogyria |
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| Longterm follow‐up in chondrodysplasia punctata, tibia–metacarpal type, demonstrating natural history |
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| Hepatic fibrosis in Kabuki syndrome |
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| <i>Neurogenetics: Methods and Protocols</i>, Methods in Molecular Biology Vol. 217, edited by Nicholas T. Potter |
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| Pendred syndrome and DFNB4‐mutation screening of <i>SLC26A4</i> by denaturing high‐performance liquid chromatography and the identification of eleven novel mutations |
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| Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI): Report on 23 patients and review of the literature |
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| Molecular cytogenetic characterization of a recombinant chromosome rec(22)dup(22q)inv(22)(p13q12.2) |
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| Screening for microdeletions of the X‐chromosome in non‐specific mental retardation |
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| Prenatal diagnosis of fetal trisomy 6 mosaicism and phenotype of the affected newborn |
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| Desbuquois dysplasia, a reevaluation with abnormal and “normal” hands: Radiographic manifestations |
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| Long‐term outcome in desbuquois dysplasia: A follow‐up in four adult patients |
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| A severe autosomal‐dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the <i>MEFV</i> H478Y variant in a Spanish kindred: An unusual familial Med |
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✓ |
✓ |
Spanish kindred; non‐ancestral populations |
| Facial phenotype allows diagnosis of Mowat–Wilson syndrome in the absence of hirschsprung disease |
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| DEB test for Fanconi anemia detection in patients with atypical phenotypes |
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| Different phenotypic expression in monozygotic twins with Huntington disease |
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| A genomic scan for habitual smoking in families of alcoholics: Common and specific genetic factors in substance dependence |
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| Double trisomy |
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| Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: Delineation of 7q21.11 breakpoints |
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| Brothers with Chudley–McCullough syndrome: Sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities |
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|
✓ |
✓ |
Pakistani descent |
| Genetic variants in <i>ZIC1</i>, <i>ZIC2</i>, and <i>ZIC3</i> are not major risk factors for neural tube defects in humans |
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| Metaphyseal chondrodysplasia with cone‐shaped epiphyses: A specific form involving the lower limbs |
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| Reconstructing haplotypes in pedigrees: Importance of parental information |
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| Handbook of Chromosomal Syndromes, edited by G. Shashidhar Pai, Raymond C. Lewandowski Jr., and Digamber S. Borgaonkar |
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| Isochromosome 22 in trisomy 22 mosaic with five cell lines |
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| Phenotypic abnormalities: Terminology and classification |
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| Coloboma and other ophthalmologic anomalies in Kabuki syndrome: Distinction from charge association |
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| <i>RMRP</i> mutations in Japanese patients with cartilage‐hair hypoplasia |
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| Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9 |
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| Unreported manifestations in two Dutch families with Bartsocas–Papas syndrome |
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|
"mostly from Mediterranean origin"; "two Dutch families" |
| Incidence of the mucopolysaccharidoses in Western Australia |
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| X chromosome inactivation patterns in Russell–Silver syndrome patients and their mothers |
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| Costello syndrome and neurological abnormalities |
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| How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene? |
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| Multiple annotations for <i>GCPII</i> in the htgs database |
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| Clinical, cytogenetic, and molecular observations in a patient with Pallister‐Killian‐syndrome with an unusual karyotype |
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| Blount disease (tibia vara) in Bardet–Biedl syndrome |
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| Evidence for systemic manifestations in cerebroretinal vasculopathy |
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| Interstitial 1q25.3‐q31.3 deletion in a boy with mild manifestations |
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| Oculo‐facio‐cardio‐dental syndrome: Skewed X chromosome inactivation in mother and daughter suggest X‐linked dominant Inheritance |
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| Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b |
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| Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions |
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| Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome |
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| Expression of class μ glutathione‐S‐transferase in human liver and its association with hepatopathies |
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| Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases |
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| Preliminary data on changes in neural tube defect prevalence rates after folic acid fortification in South America |
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| A genome‐wide scan for loci predisposing to non‐syndromic cleft lip with or without cleft palate in two large Syrian families |
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| Werner mesomelic dysplasia with Hirschsprung disease |
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| Mutation screen of the gene encoding <i>GABRB3</i> in Chinese patients with childhood absence epilepsy |
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✓ |
|
Chinese |
| Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome |
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| Crisponi syndrome: Report of a further patient |
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| Early renal insufficiency in a neonate with de novo partial trisomy of chromosome 10q |
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| Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation |
|
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| Novel mutation in the 5′ splice site of exon 4 of the<i>TCOF1</i>gene in the patient with Treacher Collins syndrome |
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| Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients |
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| Erratum |
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| Oral‐facial‐digital syndrome VII is oral‐facial‐digital syndrome I: A clarification |
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| <i>MECP2</i> gene mutations in non‐syndromic X‐linked mental retardation: Phenotype–genotype correlation |
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| Thrombocytopenia and absent radii, TAR syndrome: Report of cerebellar dysgenesis and newly identified cardiac and renal anomalies |
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| A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T → C in African‐ and European‐Americans |
|
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|
✓ |
|
✓ |
|
European‐Americans; African‐Americans |
| Novel homoplasmic mutation in the mitochondrial <i>tRNA<sup>Tyr</sup></i> gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis |
|
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| Your Genetic Destiny: Know Your Genes, Secure Your Health, and Save Your Life, by Aubrey Milunsky |
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| Does chromosome 22 have anything to do with sex determination: Further studies on a 46,XX,22q11.2 del male |
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| Is Jaffe–Campanacci syndrome just a manifestation of neurofibromatosis type 1? |
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| Normal cognition and behavior in a Smith‐Lemli‐Opitz syndrome patient who presented with Hirschsprung disease |
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| Genetic syndromes among individuals with mental retardation |
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| Toriello–Carey syndrome: Delineation and review |
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| X‐linked cubitus valgus with mental retardation and typical face |
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| The hedgehog signaling network |
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| GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype–phenotype analysis of five families with deletions in the Williams syndrome region |
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| A new recessive syndrome with VATER‐like defects, pulmonary hypertension, abnormal ears, blue sclera, laryngeal webs, and persistent growth deficiency |
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| Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male |
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| A tribute to Bryan D. Hall: Festschrift 2003 |
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| Moebius sequence and hypogonadotrophic hypogonadism |
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| Craniofacial‐deafness‐hand syndrome revisited |
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| Adult height in Noonan syndrome |
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| Methotrexate/misoprostol embryopathy: Report of four cases resulting from failed medical abortion |
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| A new X‐linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the <i>Alpha 4</i> gene at Xq13 |
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| Twelfth Robert J. Gorlin conference on Dysmorphology |
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| An atlas of gastrointestinal embryology |
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| Neuronal dysplasia: A controversial pathological correlate of intestinal pseudo‐obstruction |
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| Feingold syndrome: Clinical review and genetic mapping |
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| Infants of diabetic mothers and neonatal small left colon |
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| Molecular dimensions of gastrointestinal tumors: Some thoughts for digestion |
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| Proteus syndrome: Misdiagnosis with <i>PTEN</i> mutations |
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| Hereditary nonpolyposis colorectal cancer and related conditions |
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| Gastrointestinal polyposis syndromes |
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| Constipation, polyps, or cancer? let <i>PTEN</i> predict your future |
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| Endothelium is essential for development of the liver and the pancreas |
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| Biliary tract malformations |
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| Persistent hyperinsulinemic hypoglycemia of infancy |
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| Mutations in <i>CYP11B1</i> gene: Phenotype–genotype correlations |
|
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|
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|
✓ |
✓ |
Turkish; Dominican |
| Pulmonary atresia/ventricular septal defect associated with facial port‐wine stain and retinal vascular abnormality: A new constellation? |
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| Personality and stereotype in osteogenesis imperfecta: Behavioral phenotype or response to life's hard challenges? |
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| Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: Report of a new patient and review of the literature |
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| Juberg–Hayward syndrome: Report of a new patient with severe phenotype and novel clinical features |
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| Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the <i>DTDST</i> gene: Double‐layer patella as a reliable sign |
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| Rett syndrome in a 47,XXX patient with a de novo <i>MECP2</i> mutation |
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| Rett syndrome in adolescent and adult females: Clinical and molecular genetic findings |
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| Response to correspondence from Happle—“Hypomorphic alleles within the <i>EBP</i> gene cause a phenotype quite different from conradi‐hunermann‐Happle” |
|
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| Association of the serotonin transporter gene with sudden infant death syndrome: A haplotype analysis |
|
✓ |
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| Prenatal diagnosis of Down syndrome: Ten year experience in the Israeli population |
|
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✓ |
✓ |
Israeli Jewish population; Israeli Jewish women |
| Left‐sided CHILD syndrome caused by a nonsense mutation in the <i>NSDHL</i> gene |
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| Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: A new autosomal recessive syndrome? |
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| Thyroid dysfunction in a patient with aglossia |
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| Cleft Lip & Palate: From Origin to Treatment, edited by Diego Wyszynski |
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| Narrowing the candidate region of Albright hereditary osteodystrophy‐like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26) |
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| Hypomorphic alleles within the <i>EBP</i> gene cause a phenotype quite different from Conradi–Hünermann–Happle syndrome |
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| Association between genetic variation in the Y chromosome and hypertension in myocardial infarction patients |
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✓ |
✓ |
men from Asturias (Northern Spain) |
| Laryngeal malformation in the Richieri‐Costa‐Pereira acrofacial dysostosis: Description of two new patients |
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| Identification of an autosomal recessive mode of inheritance in paediatric Behçet's families by segregation analysis |
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| Response to Poon et al.—“FRAXAC1 and DXS548 polymorphisms in the Chinese population” |
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| Fragile‐X syndrome and skewed X‐chromosome inactivation within a family: A female member with complete inactivation of the functional X chromosome |
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| Multiple supernumerary ring chromosomes of different origin in a patient: A clinical report and review of the literature |
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| Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature |
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| Optic pathway gliomas in neurofibromatosis type 1: The effect of presenting symptoms on outcome |
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| Retinochoroidal atrophy in two adult patients with Angelman syndrome |
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| Distinctive metaphyseal chondrodysplasia with severe distal radius and ulna involvement (upper extremity mesomelia) and normal height |
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| A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD |
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| Prenatal diagnosis of boomerang dysplasia |
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| Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: Three new cases and review |
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| Second reported patient with del(1)(p32.1p32.3) and similar clinical features suggesting a recognizable chromosomal syndrome |
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| Occurrence of left versus right heart hypoplasia in a pair of dizygotic twins |
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| Gershoni–Baruch syndrome: Report of a new family confirming autosomal recessive inheritance |
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| Clinical overlap of OFD type IX with Pallister–Killian syndrome (tetrasomy 12p) |
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| Deletion of the SLUG (<i>SNAI2</i>) gene results in human piebaldism |
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| Identification of three patients with a very mild form of Smith‐Lemli‐Opitz syndrome |
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| Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis |
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| PEHO and PEHO‐like syndromes: Report of five Australian cases |
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| Localization of a non‐syndromic X‐linked mental retardation gene (<i>MRX80</i>) to Xq22‐q24 |
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| Relative prevalence of malformations at birth among different religious communities in Israel |
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| Rapid prenatal diagnosis in translocation carriers by interphase FISH with chromosome‐specific subtelomere probes |
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| Rib defects in patterns of multiple malformations: A retrospective review and phenotypic analysis of 47 cases |
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| Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system |
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| Response to correspondence from Gripp et al.—“clinical and molecular diagnosis should be consistent” |
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| Homozygous and heterozygous inheritance of <i>PAX3</i> mutations causes different types of Waardenburg syndrome |
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| Patient with Kabuki syndrome and acute leukemia |
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| Genitopatellar syndrome: Expanding the phenotype |
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| Identity by descent and candidate gene mapping of Richieri‐Costa and Pereira syndrome |
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| X‐linked hypohidrotic ectodermal dysplasia mutations in Brazilian families |
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✓ |
✓ |
Brazilian |
| Deafness associated with bilateral facial diplegia, ptosis and hypermobile joints—A new autosomal recessive condition? |
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| The Simpson–Golabi–Behmel gene, <i>GPC3</i>, is not involved in sporadic Wilms tumorigenesis |
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| A gene for nonsyndromic X‐linked mental retardation (<i>MRX77</i>) maps to Xq12‐Xq21.33 |
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✓ |
✓ |
Greek |
| Unfortunate oversight |
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| Expanding the limits of the Fryns syndrome |
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| Sequence‐Based, in situ detection of chromosomal abnormalities at high resolution |
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| Double heterozygosity in bone growth disorders: Four new observations and review |
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| Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II |
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| Hyperechogenic fetal bowel: A large French collaborative study of 682 cases |
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| Partial hexasomy of chromosome 15 |
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| Association between mutations in the <i>CARD15</i> (<i>NOD2</i>) gene and Crohn's disease in Israeli Jewish patients |
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✓ |
✓ |
Ashkenazi and non-Ashkenazi Jewish (Jewish) |
| Vasomotor instability in neonates with chromosome 22q11 deletion syndrome |
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| Blepharocheilodontic (BCD) syndrome: Expanding the phenotype? |
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| Novel deletion in the pre‐mRNA splicing gene <i>PRPF31</i> causes autosomal dominant retinitis pigmentosa in a large Chinese family |
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| Methionine synthase (MTR) 2756 (A → G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors f |
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| Familial optic atrophy with white matter changes |
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| Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: A newly recognized syndrome? |
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| Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo‐cardio‐facial syndrome) |
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| Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North‐East Italy |
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| Donnai‐Barrow syndrome: Four additional patients |
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| Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: A new case and expansion of the phenotype |
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| Confirmation of Nablus mask‐like facial syndrome |
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| Chromosomal mosaicism in familial reciprocal translocation carriers: Necessity of karyotyping different tissues |
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| A Dictionary of Gene Technology Terms, edited by Yong‐he Zhang and Meng Zhang |
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| A look beyond |
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| Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (<i>GJB6</i>) 342 kb deletion and connexin 26 (<i>GJB2</i>) mutations in cases of childhood deafness |
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| Cardiovascular abnormalities associated with the Stuve–Wiedemann syndrome |
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| Prostate cancer is part of the hereditary non‐polyposis colorectal cancer (HNPCC) tumor spectrum |
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| Do multivitamin or folic acid supplements reduce the risk for congenital heart defects? Evidence and gaps |
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| Primary pulmonary dysgenesis in velocardiofacial syndrome: A second patient |
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| Under‐ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomes |
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| Premature thelarche in Coffin‐Siris syndrome |
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| Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring |
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| Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC) |
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| Clinical and diagnostic characteristics of complex III deficiency due to mutations in the <i>BCS1L</i> gene |
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✓ |
✓ |
Spanish family |
| Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: Intra‐familial association study in an eight‐generation hyperlipidemic kindred |
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| Comments on “Epidemiological evidence that maternal diabetes does not appear to increase the risk for Down syndrome” |
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| Response to Dr. Narchi's comments on “epidemiological evidence that maternal diabetes does not appear to increase the risk for down syndrome” |
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| Talo‐patello‐scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: A new syndrome? |
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| Segmental neurofibromatosis in childhood |
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| Molecular characterization of an inherited ring (19) demonstrating ring opening |
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| ABase—A tool for the rapid assessment of anthropometric measurements on handheld computers |
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| MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia |
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| Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature |
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| Clinical and molecular diagnosis should be consistent |
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| Congenital deficiency of alpha‐fetoprotein and associated chromosomal abnormality in the placenta |
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| Novel mutation in the gene encoding c‐Abl‐binding protein SH3BP2 causes cherubism |
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| Autonomy and Trust in Bioethics, edited by Onora O'Neill |
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| Colobomatous macrophthalmia with microcornea syndrome: Report of a new pedigree |
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| Beare‐Stevenson syndrome: Two south american patients with <i>FGFR2</i> analysis |
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| Supernumerary digital flexion creases |
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| Reply to correspondence from Kosztolányi and Méhes “Supernumerary digital flexion creases” |
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| No mutation in the gene for Noonan syndrome, <i>PTPN11</i>, in 18 patients with Costello syndrome |
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| Characterization of a Wilms tumor in a 9‐year‐old girl with trisomy 18 |
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| Linkage study between congenital cataracts and five crystallin loci |
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| Preimplantation genetic diagnosis for a known cryptic translocation: Follow‐up clinical report and implication of segregation products |
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| Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family |
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| Non‐syndromic hemihyperplasia in a male and his mother |
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| Dorfman–Chanarin syndrome in Egypt |
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| Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism |
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| Truncus arteriosus and duplication 8q |
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| Gorlin syndrome with ulcerative colitis in a Japanese girl |
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| An acceptor splice site mutation in <i>HOXD13</i> results in variable hand, but consistent foot malformations |
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| De novo paracentric inversion (X)(q26q28) with features mimicking Prader–Willi syndrome |
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| Chromosome bands and ends revisited |
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| Myoclonus in a patient with a deletion of the ε‐sarcoglycan locus on chromosome 7q21 |
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| A novel 5q35.3 subtelomeric deletion syndrome |
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| Conjoined twins: Morphogenesis of the heart and a review |
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| Splenogonadal fusion‐limb defect “syndrome” and associated malformations |
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| On macrocephaly, epilepsy, autism, specific facial features, and mental retardation |
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| Familial multiple epiphyseal dysplasia due to a matrilin‐3 mutation: Further delineation of the phenotype including 40 years follow‐up |
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| Severely delayed epiphyseal ossification dysplasia with normal stature |
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| Characterization of terminal chromosome anomalies using multisubtelomere FISH |
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| Antenatal onset of cortical hyperostosis (Caffey disease): Case report and review |
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| Prenatal diagnosis is for the DR, not just for the OR |
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| Abnormalities of the umbilico‐portal venous system in Down syndrome: A report of two new patients |
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| Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter → p12.2)[10] |
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| Developmental anomalies of the scapula—the “omo”st forgotten bone |
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| Preempting genetic discrimination and assaults on privacy: Report of a symposium |
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| Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15‐22.1 |
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| Toriello–Carey syndrome associated with respiratory failure and non‐mechanical ileus |
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| Spondyloepiphyseal dysplasia Maroteaux type: Report of three patients from two families and exclusion of type II collagen defects |
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| Functional disomy for Xq22‐q23 in a girl with complex rearrangements of chromosomes 3 and X |
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| Sliding type hernia and ectopic pancreatic tissue in the stomach with renal agenesis and ear abnormalities: Branchio‐oto‐renal syndrome or hemifacial microsomia with additional findings |
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| <scp>D</scp>‐2‐hydroxyglutaric aciduria: A case with an intermediate phenotype and prenatal diagnosis of two affected fetuses |
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| Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease |
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| Living with achondroplasia in an average‐sized world: An assessment of quality of life |
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| Case‐control study of cleft lip or palate after maternal use of topical corticosteroids during pregnancy |
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| X‐linked mild non‐syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3 |
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| Estimate of the prevalence of chromosome 15q11‐q13 duplications |
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| Do genetic polymorphisms of serotonin (5‐HT) neurotransmission influence function in humans? |
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| Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: A postzygotic error |
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| Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia |
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| Book Review |
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| Screening of patients with craniosynostosis: Molecular strategy |
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| Life insurance and breast cancer risk assessment: Adverse selection, genetic testing decisions, and discrimination |
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| A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of <i>NOG</i> and <i>GDF5</i> |
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| Multiple suture synostosis, facial asymmetry, unilateral ptosis, and bipartite clavicles |
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| Complete androgen insensitivity syndrome due to X chromosome inversion: A clinical report |
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| Methylation of <i>ZNF261</i> as an assay for determining X chromosome inactivation patterns |
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| Factors affecting performance of prenatal genetic testing by Israeli Jewish women |
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✓ |
✓ |
Ashkenazi origin |
| Visual–spatial performance deficits in children with neurofibromatosis type‐1 |
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| Very long eyelashes, long eyebrows, sparse hair, and mental retardation in two unrelated boys: An atypical form of Oliver–McFarlane syndrome without retinal degeneration, or a new clinical entity? |
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| <i>Heat shock protein 27</i> gene: Chromosomal and molecular location and relationship to Williams syndrome |
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| Bowen–Conradi syndrome: A clinical and genetic study |
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| Distal monosomy 18p/distal trisomy 20p—A recognizable facial phenotype? |
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| EEC syndrome type 3 with a heterozygous germline mutation in the <i>P63</i> gene and B cell lymphoma |
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✓ |
✓ |
Japanese |
| Johnson–McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: Report of a new case |
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| Vestibular dysfunction in adult patients with osteogenesis imperfecta |
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| A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads |
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| A newly recognized autosomal recessive syndrome with abnormal vertebral ossification, rib abnormalities, and nephrogenic rests |
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| Growth retardation, developmental delay, distinctive face, multiple endocrine abnormalities, and adenylyl cyclase dysfunction: A new syndrome? |
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| Perinatal‐lethal Gaucher disease |
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| Upper airway malformation associated with partial trisomy 11q |
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| Cardiac studies on Down syndrome infants |
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| Wisconsin syndrome in a patient with interstitial deletion of the long arm of chromosome 3: Further delineation of the phenotype |
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| Response to “Chromosome bands and ends (revisited)” |
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| Prevalence of trisomy 21 following folic acid food fortification |
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| Medical geneticists' duty to warn at‐risk relatives for genetic disease |
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| Ring 21 chromosome and a satellited 1p in the same patient: Novel origin for an ectopic NOR |
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| Fetus‐in‐fetu form of monozygotic twinning with retroperitoneal teratoma |
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| Leonardi R, Caltabiano M, Lo Muzio L, Gorlin RJ, Bucci P, Pannone G, Canfora M, Sorge G. 2002. Bilateral hyperplasia of the mandibular coronoid processes in patients with nevoid basal cell carcinoma s |
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| RNA processing defects of the helicase gene <i>RECQL4</i> in a compound heterozygous Rothmund–Thomson patient |
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| Morphology of the 45,X embryo: An embryoscopic study |
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| Newborn with malformations and a combined duplication of 9pter‐q22 and 16q22‐qter resulting from unbalanced segregation of a complex maternal translocation |
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| X‐linked Opitz syndrome: Novel mutations in the <i>MID1</i> gene and redefinition of the clinical spectrum |
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| Fetus with renal agenesis and smith‐Lemli‐Opitz syndrome |
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| Somatic and germline mosaicism for a R248C missense mutation in <i>FGFR3</i>, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia |
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| Screening of families with autosomal recessive non‐syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario |
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✓ |
✓ |
"ethnic groups", "Indian population", "families belonging to three different states (Karnataka, Tami |
| Paternal origin of der(X)t(X;6) in a girl with trisomy 6p and unbalanced t(6;10) mosaicism in her mother |
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| De novo 1q32q44 duplication and distal 1q trisomy syndrome |
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| Complex MCA/MR syndrome associated with interstitial deletion of the long arm of chromosome 6, del(6)(q25.1→q27) |
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| Parental attitudes regarding newborn screening of PKU and DMD |
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| Re‐evaluation of kyphomelic dysplasia |
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| Reticular erythrokeratoderma: A new disorder of cornification |
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| The genome poem |
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| 1154insTC is not a rare <i>CFTR</i> mutation |
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| Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian <i>CFTR</i> mutations |
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| From DNA to Diversity: Molecular Genetics and the Evolution of Animal Design, by S.B. Carroll, J.K. Grenier, and S.D. Weatherbee |
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| Seven new cases of familial isolated bladder exstrophy and epispadias complex (BEEC) and review of the literature |
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| A new dominant branchiogenic‐deafness syndrome with internal auditory canal hypoplasia and abnormal extremities |
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| Athabascan brainstem dysgenesis syndrome |
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| Relation between apolipoprotein E genotype, hepatitis b virus status, and thyroid status in a sample of older persons with down syndrome |
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| Multiple macrodontic multituberculism |
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| Two brothers with findings resembling congenital intrauterine infection‐like syndrome (pseudo‐TORCH syndrome) |
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| Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: A report on three patients |
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| Granular cell tumor in a PHTS patient with a novel germline <i>PTEN</i> mutation |
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| 657del5 mutation in the gene for Nijmegen breakage syndrome (<i>NBS1</i>) in a cohort of Russian children with lymphoid tissue malignancies and controls |
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| Aberrant <i>Pax1</i> and <i>Pax9</i> expression in Jarcho‐Levin syndrome: Report of two Caucasian siblings and literature review |
✓ |
✓ |
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| Variations in the dopamine β‐hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophy |
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| Brachyolmia and spinal stenosis |
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| Trisomy 18 mosaicism in a woman with normal intelligence |
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| Is it a new syndrome or a clinical variability in cerebro‐oculo‐nasal syndrome? |
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| Schinzel‐Giedion syndrome and alacrima: A case first described in 1996 |
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| Typical facial clefting and constriction band anomalies: an unusual association in three unrelated patients |
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| Population screening for cystic fibrosis: Knowledge and emotional consequences 18 months later |
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| US physicians' attitudes toward genetic testing for cancer susceptibility |
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| Designation of the TARP syndrome and linkage to Xp11.23‐q13.3 without samples from affected patients |
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| Homozygous Gly555Glu mutation in the nuclear‐encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II |
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| Carrier frequency of the RSH/Smith‐Lemli‐Opitz IVS8‐1G>C mutation in African Americans |
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| Patient with a deletion of chromosome 21q and minimal phenotype |
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| Expression studies of two novel in CIS‐mutations identified in an intermediate case of Hunter syndrome |
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| Role of selected mutations in exon 28 and 39 of <i>Myosin15</i> gene in autosomal recessive nonsyndromic sensorineural deafness among affected South Indian families |
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| Dilated cardiomyopathy and new 16 bp deletion in exon 44 of the <i>dystrophin</i> gene: The possible role of repeated motifs in mutation generation |
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| Delineation of a newly recognized neurocutaneous malformation syndrome with “cutis tricolor” |
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| Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified <i>GLI3</i> mutations |
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| Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children |
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Finnish ancestry |
| Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q |
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| Long‐term follow‐up of a new case of liver glycogen synthase deficiency |
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French Canadian |
| Unique insertional translocation in a childhood Wilms' tumor survivor detected when his daughter developed bilateral retinoblastoma |
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| Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia |
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| Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina |
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| Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: Case report and review |
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| Inv dup del(4)(:p14 → p16.3::p16.3 → qter) with manifestations of partial duplication 4p and Wolf‐Hirschhorn syndrome |
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| Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the indian subcontinent with the identical mutation in the GHRH receptor |
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| Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs |
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Finnish ancestry; non-Finnish |
| Mutational analysis of the β‐ and δ‐sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy |
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| Glutathione S‐transferase mu null genotype affords protection against alcohol induced chronic pancreatitis |
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| Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: Evidence for a founder haplotype for the most common <i>PEX10</i> gene mutation |
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| Mechanisms of monozygotic (MZ) twinning: A possible role for the cell adhesion molecule, E‐cadherin |
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| Prenatal diagnosis of mosaic tetrasomy 8p |
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| Mandibuloacral dysplasia with absent breast development |
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| A few moments |
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| Deletion of chromosome region 18q21.1 → 18q21.3 in a patient without clinical features of the 18q‐ phenotype |
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| Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan–Fryns syndrome |
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| Development of the pharyngeal arches |
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| Alport syndrome with diffuse leiomyomatosis |
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| Further delineation of the phenotype associated with heterozygous mutations in <i>ZFHX1B</i> |
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| Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: Relationship to <i>SFTPB</i> |
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| Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) |
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| Otocephaly and holoprosencephaly in only one monozygotic twin |
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| Short trunk stature, brachydactyly, and platyspondyly in three sibs: A new form of brachyolmia or a new skeletal dysplasia? |
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| Pregnancy outcome and prenatal diagnosis of sex chromosome abnormalities in Hawaii, 1986–1999 |
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| First‐year mortality rates for selected birth defects, Hawaii, 1986–1999 |
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| Vocal cord abnormalities in Williams syndrome: A further manifestation of elastin deficiency |
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| Comments on “Osteopathia striata cranial sclerosis: Non‐random X‐inactivation suggestive of X‐linked dominant inheritance” |
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| Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease |
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| Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms |
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| New variant of acro‐renal field defect |
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| Interaction of genetic counselors with molecular genetic testing laboratories: Implications for non‐geneticist health care providers |
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| Deletion of the <i>SHOX</i> gene in patients with short stature of unknown cause |
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| Understanding why negative genetic test results sometimes fail to reassure |
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| Application of a protocol for the detection of disorders of sialic acid metabolism to 124 high‐risk Brazilian patients |
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| Clinical findings and phenotype in a toddler with 48,XXYY syndrome |
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| Severe musculoskeletal phenotype associated with an unbalanced t(6;10) translocation: Clarification of the locus for this phenotype on distal 6p |
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| A new autosomal recessive syndrome with Zellweger‐like manifestations |
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✓ |
✓ |
Ashkenazi Jewish |
| Epidemiology of triploidy in a population‐based birth defects registry, Hawaii, 1986–1999 |
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| Prevalence of myotonic dystrophy in Israeli Jewish communities: Inter‐community variation and founder premutations |
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✓ |
✓ |
Ashkenazi Jews; Sephardim/Oriental Jews; Yemenite Jews; Moroccan (subgroup) |
| Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the <i>NXF5</i> Gene |
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| Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients |
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| Association of microphthalmia and esophageal atresia: Description of a patient and review of the literature |
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| Primary hypergonadotropic hypogonadism, partial alopecia, and müllerian hypoplasia: Report of a second family with additional findings |
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| Chiari I malformation and cloacal exstrophy: Report of a patient with both defects of blastogenesis |
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| IL‐1α (− 889) promoter polymorphism is a risk factor for osteomyelitis |
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| Coenzyme Q10 levels in Prader‐Willi syndrome: Comparison with obese and non‐obese subjects |
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| Genetic and clinical characterization of patients with an interstitial duplication 15q11‐q13, emphasizing behavioral phenotype and response to treatment |
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| New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death |
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| Mortality and apolipoprotein E in African‐American, and White Elders: An attempted replication |
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| Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients |
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| Malignant hematological disorders in children with Wolf–Hirschhorn syndrome |
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| Subcortical band heterotopia with simplified gyral pattern and syndactyly |
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| Unusual congenital abdominal wall defect and review |
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| What does “A gene for heart disease” mean? A focus group study of public understandings of genetic risk factors |
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✓ |
✓ |
racial representation |
| Polysyndactyly, complex heart malformations cardiopathy, and hepatic ductal plate anomalies: An autosomal recessive syndrome diagnosed antenatally |
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| Osseous fragility in Marshall–Smith syndrome |
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| Acrofrontofacionasal dysostosis: Report of the third Brazilian family |
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| Successful carnitine therapy for Raynaud's phenomenon in velo‐cardio‐facial syndrome |
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| Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family |
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| Several genomic regions potentially containing QTLs for bone size variation were identified in a whole‐genome linkage scan |
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| Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the <i>P</i> gene |
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✓ |
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✓ |
✓ |
African ancestry |
| Common variant in betaine‐homocysteine methyltransferase (BHMT) and risk for spina bifida |
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| Nevi flammei affecting two contralateral quadrants and nevus depigmentosus: A new type of phacomatosis pigmentovascularis? |
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| Low penetrance of the 14484 LHON mutation when it arises in a non‐haplogroup J mtDNA background |
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✓ |
✓ |
✓ |
European haplogroup J mtDNAs; haplogroup H |
| Neoplasms associated with alterations in fibroblast growth factor receptors |
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| Male patient with non‐mosaic deleted Y‐chromosome and clinical features of Turner syndrome |
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| Zhu H, Barber R, Shaw GM, Lammer EJ Finnell RH. 2003. Is Sonic hedgehog (SHH) a candidate gene for spina bifida? A pilot study. Am J Med Genet 117A:87–88. |
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| Ethanol consumption and <i>DRD2</i> gene TaqI a polymorphism among socially drinking males |
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✓ |
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✓ |
✓ |
Finnish |
| Call for research study participants |
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| Food fortification with folic acid and twinning among California infants |
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✓ |
✓ |
maternal race/ethnic; race/ethnicity |
| Rubinstein‐Taybi syndrome medical guidelines |
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| Hypochondroplasia and stature within normal limits: Another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene |
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| Evidence of neuronal migration disorders in Knobloch syndrome: Clinical and molecular analysis of two novel families |
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| Macrodystrophia lipomatosa of the feet and subcutaneous lipomas |
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| Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports |
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| Response to letter: Clinical, natural history, and imaging information on patients included in reports |
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| X‐inactivation pattern in multiple tissues from two leber's hereditary optic neuropathy (LHON) patients |
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| Lambert–Eaton Myasthenic syndrome in a child with an autoimmune phenotype |
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| Causality and the need of nose length to height curves |
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| A distinctive type of metaphyseal chondrodysplasia with characteristic thickening of the distal ulna and radius: Possible metaphyseal chondrodysplasia‐rosenberg |
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| Trisomy 8 mosaicism in a patient born to a mother with 47,XXX |
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| Unique mosaicism of structural chromosomal rearrangement: Is chromosome 18 preferentially involved? |
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| A boy with developmental delay, malformations, and evidence of a connective tissue disorder—possibly a new type of cutis laxa |
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| Chudley‐McCullough syndrome: Expanded phenotype and review of the literature |
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| Professional opportunities and responsibilities in the provision of genetic information to children relinquished for adoption |
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| Familial mitral valve prolapse associated with short stature, characteristic face, and sudden death |
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| “Angel‐shaped phalanx” in a boy with oromandibular‐limb hypogenesis |
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| Long‐term survival in a patient with del(18)(q12.2q21.1) |
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| Different mutations in the<i>NF1</i>gene are associated with Neurofibromatosis–Noonan syndrome (NFNS) |
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| Participation by clinical geneticists in genetic advocacy groups |
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| High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region |
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| High frequency of the Ala481Thr mutation of the <i>P</i> gene in the Japanese population |
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| A smile |
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| Holt‐Oram syndrome: Is there a “face”? |
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| Tetrasomy 8p: Discordance of amniotic fluid and blood karyotypes |
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| Late‐Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome |
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| Oral‐facial‐digital syndrome gabrielli type: Second report |
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| Prenatal detection of rare chromosomal autosomal abnormalities in Europe |
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| Rhomboid shaped tibia and hypoplastic fibula: A variant of Nievergelt syndrome |
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| Mutation analysis impact on the genetic counseling of sporadic hemophilia B families |
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| Brachmann–de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: A result of mosaicism for a putative bdls gene mutation? |
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| Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation |
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| Natural history of rhizomelic chondrodysplasia punctata |
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| Identification of the first non‐Jewish mutation in familial Dysautonomia |
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✓ |
✓ |
Ashkenazi Jewish; non-Jewish; pure Ashkenazi Jewish ancestry; ethnicities |
| Long‐term survival in Stuve‐Wiedemann syndrome: A neuro‐myo‐skeletal disorder with manifestations of dysautonomia |
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| Pachygyria and cerebellar hypoplasia in Goldberg–Shprintzen syndrome |
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| A female case of Sedaghatian type spondylometaphyseal dysplasia |
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| Portal hypertension in Williams syndrome: Report of two patients |
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| Deletion 12q: A second patient with 12q24.31q24.32 deletion |
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| Absence of <i>RECQL4</i> mutations in poikiloderma with neutropenia in Navajo and non‐Navajo patients |
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| Mapping of MRX81 in Xp11.2‐Xq12 suggests the presence of a new gene involved in nonspecific X‐linked mental retardation |
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| Mechanism of intrachromosomal triplications 15q11‐q13: A new clinical report |
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| Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation |
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| Spontaneous expression of FRA3P in a patient with Nager syndrome |
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| Characterization of a chromosome 8‐derived minute marker chromosome using microdissection and FISH in a boy with growth retardation |
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| Book review |
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| Behavioral assessment of children with Down syndrome using the Reiss psychopathology scale |
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| Stocco dos Santos X‐linked mental retardation syndrome: Clinical elucidation and localization to Xp11.3–Xq21.3 |
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| Crane‐Heise syndrome: A second familial case report with elaboration of phenotype |
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| Genetic testing for a <i>BRCA1</i> mutation: Prophylactic surgery and screening behavior in women 2 years post testing |
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| New heritable fragile site at 15q13 in both members of a nonconsanguineous couple |
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| Intrachromosomal insertion translocation resulting in duplication of chromosome band Yq11.2 in two fertile brothers |
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| Noonan‐like syndrome with loose anagen hair: A new syndrome? |
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| Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions |
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| Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions |
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| Nijhawan N, Morad Y, Seigel‐Bartlet J, Levin AV. 2002. Caruncle abnormalities in the oculo‐auriculo‐vertebral spectrum. Am J Med Genet 113:320–325. |
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| Concerning “Five Additional Costello Syndrome Patients with Rhabdomyosarcoma: Proposal for a Tumor Screening Protocol” |
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| SKY™ assessment of two karyotypes with 0–6 supernumerary marker/ring chromosomes and review of previously reported cases with two or more markers |
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| Self‐injurious behavior in young boys with fragile X syndrome |
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| Mutation screening of <i>FOXP2</i> in individuals diagnosed with autistic disorder |
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| Developing culturally sensitive cancer genetics communication aids for African Americans |
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| Famous people and genetic disorders: From monarchs to geniuses—A portrait of their genetic illnesses |
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| Clinical and epidemiological studies of amniotic deformity, adhesion, and mutilation (ADAM) sequence in a South American (ECLAMC) population |
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| PDQ Medical Genetics, by Ronald G. Davidson |
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| <i>Corrigendum</i> |
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| Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype |
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| Bilateral renal dysplasia and situs inversus totalis in an infant girl |
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| A new patient with Lowry–Wood syndrome with mild phenotype |
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| Satoyoshi syndrome in a caucasian girl improved with glucocorticoids—A clinical report |
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| Personality profiles of children and adolescents with neurofibromatosis type 1 |
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| Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay |
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| Cytogenetic analysis of obsessive‐compulsive disorder (OCD): Identification of a FRAXE fragile site |
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| Broad thumbs and halluces with deafness: A patient with Keipert syndrome |
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| Unexpected survival in a case of prenatally diagnosed non‐mosaic trisomy 22: Clinical report and review of the natural history |
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| Cranio‐cerebello‐cardiac (3C) syndrome: Follow‐up study of the original patient |
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| Thanatophoric dysplasia type II with encephalocele and aortic hypoplasia diagnosed in an anatomical specimen |
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| Shashi XLMR syndrome: Report of a second family |
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| Rapid detection of 17p11.2 rearrangements by FISH <i>without cell culture</i> (direct FISH, DFISH): A prospective study of 130 patients with inherited peripheral neuropathies |
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| One Froggy Evening |
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| Progressive osseous heteroplasia in the face of a child |
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| Further delineation of the behavioral and neurologic features in Costello syndrome |
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| Reply to correspondence from Shipkov and Anastassov—“bilateral Poland anomaly: Does it exist?” |
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| Analysis of <i>BRCA1</i> and <i>BRCA2</i> mutations in an Iranian family with hereditary breast and ovarian cancer syndrome |
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| Coming together for blastogenesis |
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| Ring chromosome 12 with variable phenotypic features: Clinical report and review of the literature |
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| A Series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15 |
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| Submicroscopic terminal deletion of 1p36.3 and Xp23 hidden in complex chromosome rearrangements: Independent mechanism of telomere restitution on the two chromatids |
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| De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities |
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| Zimmermann–Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: Molecular cytogenetic characterization of the breakpoint regions |
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| Waardenburg syndrome: Clinical differentiation between types I and II |
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| Microcephalic osteodysplastic primordial short stature type II with cafe‐au‐lait spots and moyamoya disease |
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| Two unique patients with trisomy 18 mosaicism and molecular marker studies |
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| Sudden infant death syndrome: Association with a promoter polymorphism of the serotonin transporter gene |
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African American, Japanese |
| Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy |
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| Previously undescribed nonsense mutation in <i>SHH</i> caused autosomal dominant holoprosencephaly with wide intrafamilial variability |
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| Facial dysgenesis: A novel facial syndrome with chromosome 7 deletion p15.1‐21.1 |
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| Reply to correspondence from Axenovich and Borodin—“Some pitfalls of segregation analysis of complex traits” |
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| Disclosing the mechanisms of origin of de novo short‐arm duplications of chromosome 9 |
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| Is Sonic hedgehog (SHH) a candidate gene for spina bifida? A pilot study |
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| DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion |
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| A new autosomal recessive congenital contractural syndrome in an Israeli Bedouin kindred |
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Finnish type lethal congenital contracture syndrome; Israeli‐Bedouin kindred |
| Nonsyndromic Pulmonary Valve Stenosis and the <i>PTPN11</i> Gene |
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| Clinical variability of type II sialidosis by C808T mutation |
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Their ancestors originated from a small area to the east of the city of Seville (Spain), suggesting |