| Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the Meckel‐anatomical collections at the University of Halle, Germany |
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| Autosomal‐recessive syndrome with alopecia, hypogonadism, progressive extra‐pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1 |
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| Confidentiality versus duty to inform—An empirical study on attitudes towards the handling of genetic information |
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✓ |
✓ |
Norwegian, Swedish |
| Hemangiomas: Their uses and abuses |
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| Book review |
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| Studies with <i>MMP9</i> gene promoter polymorphism and nonsyndromic cleft lip and palate |
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| Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome |
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| Clinical‐etiologic correlation in children with Prader‐Willi syndrome (PWS): An interdisciplinary study |
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| Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome |
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| Reply to Henthorn and Deutsch: Ethnicity versus early environment: Comment on ‘Early Childhood Music Education and Predisposition to Absolute Pitch: Teasing Apart Genes and Environment’ by Peter K. Gr |
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| Trisomy 13 mosaicism in a phenotypically normal child: Description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age |
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| A novel patient with Cooks syndrome supports splitting from “classic” brachydactyly type B |
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| Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population‐based sample of infants with cleft palate |
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| A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia |
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| Candidate loci for Zimmermann–Laband syndrome at 3p14.3 |
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| Novel risk factor in gastroschisis: Change of paternity |
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| Pericentric inversion causing duplication and deletion of chromosome region 13q22 → qter in the offspring |
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| Non‐chromosome 11‐p syndromes in Wilms tumor patients: Clinical and cytogenetic report of two Down syndrome cases and one Turner syndrome case |
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| A patient with duplication (7)(p22.1pter) characterized by array‐CGH |
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| COL2A1–related skeletal dysplasias with predominant metaphyseal involvement |
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| A family‐based association study in Central Europeans: No evidence for the cystathionine beta‐synthase c.844ins68 gene variant as a risk factor for non‐syndromic cleft lip and palate |
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✓ |
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Central Europeans |
| Recurrent insertional polydactyly and situs inversus in a Bardet‐Biedl syndrome family |
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| Ethnicity versus early environment: Comment on ‘Early Childhood Music Education and Predisposition to Absolute Pitch: Teasing Apart Genes and Environment’ by Peter K. Gregersen, Elena Kowalsky, Nina K |
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| Fraser and Ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated<i>FRAS1</i> |
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| Hematological abnormalities during the first week of life among neonates with Down syndrome: Data from a multihospital healthcare system |
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| A male infant with a 9.6 Mb terminal Xp deletion including the <i>OA1</i> locus: Limit of viability of Xp deletions in males |
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| Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome “tiling path” BAC array in a girl with heart defect, cleft palate, and developmental delay |
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| Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: A novel syndrome |
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| A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17 |
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| Duplication/deletion mosaicism of the 7q(21.1 → 31.3) region |
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| Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: A complication of hyperemesis gravidarum induced vitamin K deficiency? |
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| Sibling cases of Vici syndrome: Sleep abnormalities and complications of renal tubular acidosis |
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| Hans‐Rudolf Wiedemann (1915–2006) |
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| A new chromosome anomaly in a patient with apparent C (trigonocephaly) syndrome |
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| A novel recurrent mitochondrial DNA mutation in <i>ND3</i> gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia |
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| Angelman syndrome caused by an identical familial 1,487‐kb deletion |
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| Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family |
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| Neuropathic features in fragile X premutation carriers |
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| Unusually severe expression of craniofacial features in Aarskog‐Scott syndrome due to a novel truncating mutation of the <i>FGD1</i> gene |
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| Two novel point mutations in the long‐range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly |
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✓ |
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| Anophthalmia‐plus syndrome: A clinical report and review of the literature |
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| Frontometaphyseal dysplasia: Mutations in <i>FLNA</i> and phenotypic diversity (Am J Med Genet 140A: 1726–1736) |
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| The new bone biology: Pathologic, molecular, and clinical correlates |
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| Two years of growth hormone therapy in young children with Prader–Willi syndrome: Physical and neurodevelopmental benefits |
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| Neuropsychological evaluation in Lujan–Fryns syndrome: Commentary and clinical report |
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| Immunoglobulin deficiency in Stickler syndrome |
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| Concordant partial urorectal septum malformation sequence in monozygotic twins |
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| The G397A (E133K) change in the <i>AGGF1</i> (<i>VG5Q</i>) gene is a single nucleotide polymorphism in the Spanish population |
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✓ |
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Spanish population |
| A report of pure 7p duplication syndrome and review of the literature |
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| A syndrome of holoprosencephaly, recurrent infections, and monocytosis |
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| Karyotype–phenotype insights from 11q14.1‐q23.2 interstitial deletions:<i>FZD4</i>haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement |
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| Clinical features and management issues in Mowat–Wilson syndrome |
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✓ |
✓ |
Northern Europe |
| A microdeletion 22q11.2 can resemble Shprintzen–Goldberg omphalocele syndrome |
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| Hepatoblastoma in a patient with Goldenhar syndrome born to a diabetic mother |
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| Multiple primary tumors associated with chromosome 9p deletion |
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| A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the <i>NF1</i> gene |
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| A new genomic mechanism leading to cri‐du‐chat syndrome |
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| Unusual dicentric chromosome 22 associated with a 22q13 deletion |
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| Intracranial abnormalities detected by three‐dimensional magnetic resonance imaging in Prader–Willi syndrome |
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| Sudden infant death in a patient with <i>FGFR3</i> P250R mutation |
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| In memoriam: Hooshang Taybi, M.D. (1919–2006)* |
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| Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8 |
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| High‐throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy |
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| Nosology and classification of genetic skeletal disorders: 2006 revision |
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| Robert J. Gorlin (1923–2006): Teacher, colleague, and friend |
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| A new distal arthrogryposis syndrome characterized by plantar flexion contractures |
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| Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: A “new” syndrome? |
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| Detection of low‐level mosaicism by array CGH in routine diagnostic specimens |
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| Energy expenditure and physical activity in Prader–Willi syndrome: Comparison with obese subjects |
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| Prenatal detection of subtelomeric rearrangements by multi‐subtelomere FISH in a cohort of fetuses with major malformations |
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| Phenotypic definition of Chiari type I malformation coupled with high‐density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15 |
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| <i>GLI2</i> mutations in four Brazilian patients: How wide is the phenotypic spectrum? |
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| PVRL1 variants contribute to non‐syndromic cleft lip and palate in multiple populations |
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| In memoriam: Robert J. Gorlin, 1923–2006 |
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| Robert J. Gorlin, 1923–2006: A remembrance |
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| High incidence of short rib‐polydactyly syndrome type IV in a Hungarian Roma subpopulation |
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| Trismus‐pseudocamptodactyly syndrome is caused by recurrent mutation of <i>MYH8</i> |
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|
✓ |
✓ |
✓ |
North American and European TPS pedigrees; Dutch; Dutch‐Kentucky; Dutch family |
| Tracking rare incidence syndromes (TRIS) project |
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| Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: A possible “new” autosomal recessive syndrome? |
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| Further phenotypic and genetic variation in ADULT syndrome |
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| Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome |
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| <i>DLL3</i> as a candidate gene for vertebral malformations |
|
✓ |
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| DNA sequence analysis of <i>GJB2</i>, encoding connexin 26: Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles |
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✓ |
✓ |
multi-ethnic control group; ethnic groups; Asians; ethnic stratification |
| A novel G106D alteration of the <i>SDHD</i> gene in a pedigree with familial paraganglioma |
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✓ |
✓ |
Japanese |
| Family‐based association study of the <i>MTHFR</i> polymorphism C677T in the bladder‐exstrophy‐epispadias‐complex |
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| <i>RAI1</i> point mutations, CAG repeat variation, and SNP analysis in non‐deletion Smith–Magenis syndrome |
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| Antenatal screening tests: Knowledge and practice patterns of obstetricians in Utah |
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| No association between periconceptional multivitamin supplementation and risk of multiple congenital abnormalities: A population‐based case‐control study |
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| A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations |
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| Attitudes of genetic counselors towards expanding newborn screening and offering predictive genetic testing to children |
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| <i>CRELD1</i> mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome |
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| Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader–Willi syndrome |
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| Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell–cell interactions, inflammatory response, and blood pressure regulation |
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| Trigonocephaly in Muenke syndrome |
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| Associated malformations in congenital diaphragmatic hernia cases in the last 15 years in a tertiary referral institute |
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| Atypical cases of Angelman syndrome |
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| Daughter and her mildly affected father with Keipert syndrome |
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| Response to letter to the editor: “Hypoparathyroidism‐Retardation‐Dysmorphism Syndrome in a Female Child: A New Variant Not Caused by a <i>TBCE</i> Mutation—Clinical Report and Review” |
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| Psychopathology in the Lujan–Fryns syndrome: Report of two patients and review |
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| X‐chromosome inactivation patterns in females with Prader–Willi syndrome |
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| FISH and array‐CGH analysis of a complex chromosome 3 aberration suggests that loss of <i>CNTN4</i> and <i>CRBN</i> contributes to mental retardation in 3pter deletions |
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| Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation |
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| Association between the NAT1 1095C > A polymorphism and homocysteine concentration |
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| Analysis of a Scottish founder effect narrows the TAPVR‐1 gene interval to chromosome 4q12 |
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| Parietal bone agenesis with gracile bones and splenic hypoplasia/aplasia: Clinico‐pathologic report and differential diagnosis with review of cranio‐gracile bone syndromes, “osteocraniostenosis” and K |
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| V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity |
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✓ |
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| Deaths due to choking in Prader–Willi syndrome |
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| Core binding factor beta (<i>CBFB</i>) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding d |
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| Evolutionary pathways in nature: A phylogenetic approach. By John C. Avise. Cambridge University Press, New York, 2006, 286 p. |
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| RE: Correspondence from Wieczorek & Gillessen‐Kaesbach and Hing & Parisi |
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| ADHD symptoms in children with FXS |
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| Trends and racial disparities in muscular dystrophy deaths in the United States, 1983–1998: An analysis of multiple cause mortality data |
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✓ |
✓ |
Whites; Blacks |
| Trisomy 18: Changes in sex ratio during intrauterine life |
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| Diagnostic yield of chromosome analysis in patients with developmental delay or mental retardation who are otherwise nondysmorphic |
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| Oculo‐oto‐facial dysplasia (OOFD) versus Burn–McKeown syndrome |
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| Recurrent pancreatitis in mitochondrial cytopathy |
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| Head circumference and height in autism: A study by the collaborative program of excellence in autism |
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| Response to Wieczorek and Gillessen‐Kaesbach letter addressing “A Novel Oculo‐Oto‐Facial Dysplasia in a Native Alaskan Community With Autosomal Recessive Inheritance” |
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| Sensenbrenner syndrome: A new member of the hepatorenal fibrocystic family |
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| Terminal 14q32.33 deletion: Genotype–phenotype correlation |
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| Attitudes and beliefs of pediatricians and genetic counselors regarding testing and screening for CF and G6PD: Implications for policy |
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| <i>PTCH</i> mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly‐like features and normal MRI |
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| Single maxillary central incisor, holoprosencephaly, and holoprosencephaly‐like phenotype |
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| Robert J. Gorlin and the dysmorphology conferences |
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| Craniofacial and dental phenotype of Smith–Magenis syndrome |
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| A newly recognized polyosteolysis/hyperostosis syndrome |
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| <i>SIX3</i> mutations with holoprosencephaly |
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| Holoprosencephaly‐like phenotype: Clinical and genetic perspectives |
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| Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: Association with an 18p11.3 deletion |
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| Scientific abstract submissions presented at the 27th Annual PWSA (USA) National Conference in Orlando, Florida |
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| Mitochondrial dysfunction in Stüve–Wiedemann syndrome in a patient carrying an <i>ND1</i> gene mutation |
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| Elejalde syndrome—A case report |
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| Chromosome 10q24.3‐qter deletion associated with left‐sided first branchial arch defect, diaphragmatic eventration, and duplicated renal pelvis |
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| Early‐onset low‐grade papillary carcinoma of the bladder associated with Apert syndrome and a germline <i>FGFR2</i> mutation (Pro253Arg) |
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| Festschrift for Dr. John M. Opitz: Pathogenesis of cardiac conduction disorders in children genetic and histopathologic aspects |
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| A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7 |
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| Bladder exstrophy and Epstein type congenital macrothrombocytopenia: Evidence for a common cause? |
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| <i>BRCA1/2</i> testing in hereditary breast and ovarian cancer families III: Risk perception and screening |
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| A family with X‐linked optic atrophy linked to the OPA2 locus Xp11.4‐Xp11.2 |
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| Somatic mosaicism for an <i>HRAS</i> mutation causes Costello syndrome |
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| ATRX syndrome in a girl with a heterozygous mutation in the <i>ATRX</i> Zn finger domain and a totally skewed X‐inactivation pattern |
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| Bifid ribs and unusual vertebral anomalies diagnosed in an anatomical specimen. Gorlin syndrome? |
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| Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features |
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| Molecular basis of human dentin diseases |
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| Variants in mitochondrial tRNA<sup>Glu</sup>, tRNA<sup>Arg</sup>, and tRNA<sup>Thr</sup> may influence the phenotypic manifestation of deafness‐associated 12S rRNA A1555G mutation in three Han Chinese |
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| Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness |
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| Vascular update: Morphogenesis, tumors, malformations, and molecular dimensions |
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| Significance of case reports in the advancement of medical scientific knowledge |
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| 4q35 deletion and 10p15 duplication associated with immunodeficiency |
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| Introduction to John M. Opitz Festschrift |
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| Familial occurrence of multiple pterygium syndrome: Expression in a heterozygote of the recessive form or variability of the dominant form? |
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| Consanguineous marriage and congenital heart defects: A case‐control study in the neonatal period |
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| Colophon: Vere dignum et justum est … An unedited MS |
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| Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation |
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| Linking Antley–Bixler syndrome and congenital adrenal hyperplasia: A novel case of P450 oxidoreductase deficiency |
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| Risk of limb deficiency defects associated with <i>NAT1</i>, <i>NAT2</i>, <i>GSTT1</i>, <i>GSTM1</i>, and <i>NOS3</i> genetic variants, maternal smoking, and vitamin supplement intake |
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| High cognitive functioning and behavioral phenotype in Pallister‐Killian syndrome |
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| Prenatal diagnosis of episodic tachypnea in an infant with OFD VI |
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| Expanding the clinical spectrum of <i>MYCN</i>‐related Feingold syndrome |
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| <i>DHCR7</i> mutation carrier rates and prevalence of the RSH/Smith‐Lemli‐Opitz syndrome: Where are the patients? |
|
✓ |
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✓ |
|
|
Central European populations |
| Clinical experience with array CGH: Case presentations from nine months of practice |
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| Prevalence of Angelman syndrome and Prader–Willi syndrome in Estonian children: Sister syndromes not equally represented |
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| Tetralogy of Fallot with absent pulmonary valve in a de novo derivative chromosome 9 with duplication of 9p13 → 9pter and deletion of 9q34.3 |
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| Atrioventricular block and wiry hair in Teebi hypertelorism syndrome |
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| <i>Patched</i> mutations and hairy skin patches: A new sign in Gorlin syndrome |
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| Response to: Multiple aneuploidy recurrence risk |
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| Cornelia de Lange syndrome: Parental preferences regarding the provision of medical information |
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| Autism spectrum disorder in Fragile X syndrome: Differential contribution of adaptive socialization and social withdrawal |
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| Maternal 21‐hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21‐hydroxylase deficiency and Klinefelter syndrome |
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| A non‐obese boy with Prader‐Willi syndrome shows cardiopulmonary impairment due to severe kyphoscoliosis |
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| Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome |
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| Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation‐specific PCR |
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| The Helena syndromes |
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| A previously unreported mutation in a Currarino syndrome kindred |
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| Array comparative genomic hybridization analysis in first‐trimester spontaneous abortions with ‘normal’ karyotypes |
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| Impact of neurofibromatosis 1 on Quality of Life: A cross‐sectional study of 176 American cases |
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| Dwarfism in the ancient Mediterranean world |
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| Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases |
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| XX male with sex reversal and a de novo 11;22 translocation |
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| Mutation analysis of the <i>FRAS1</i> gene demonstrates new mutations in a propositus with Fraser syndrome |
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| Multiple aneuploidy recurrence risk |
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| Bannayan–Riley–Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation |
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| Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland—An epidemiological study |
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✓ |
✓ |
Finnish |
| <i>SALL1</i> mutations in sporadic Townes–Brocks syndrome are of predominantly paternal origin without obvious paternal age effect |
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| Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause |
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| Additional evidence that <i>PTPN11</i> mutations play only a minor role in the pathogenesis of non‐syndromic atrioventricular canal defect |
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| Contiguous hemizygous deletion of <i>TBX5</i>, <i>TBX3</i>, and <i>RBM19</i> resulting in a combined phenotype of Holt‐Oram and ulnar‐mammary syndromes |
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| Determination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: Importance of the relative proportion of the 45,X line in gonadal tissue |
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| A novel mutation in <i>GDF5</i> causes autosomal dominant symphalangism in two Chinese families |
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|
✓ |
✓ |
Chinese |
| Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum |
|
✓ |
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| Anophthalmia‐esophageal atresia syndrome caused by an <i>SOX2</i> gene deletion in monozygotic twin brothers with markedly discordant phenotypes |
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| Identification of a novel polymorphism—the duplication of the <i>NPHP1</i> (nephronophthisis 1) gene |
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| A father of four consecutive trisomic pregnancies with elevated frequencies of associated aneuploid sperm |
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| A novel 8.5 MB dup(1)(p34.1p34.3) characterized by FISH in a child presenting with congenital heart defect and dysmorphic features |
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| Major feeding difficulties in the first reported case of interstitial 20q11.22‐q12 microdeletion and molecular cytogenetic characterization |
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| Errors in manuscript classification |
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| Invited comment: Introductory comments special section: Trisomy 18 |
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| Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2) |
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| Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan‐related phenotypes |
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| Hutchinson–Gilford progeria syndrome: Review of the phenotype |
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| Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations |
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| Extensive acrochordons and pancreatic islet‐cell tumors in tuberous sclerosis associated with <i>TSC2</i> mutations |
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| The genetic basis of tooth development and dental defects |
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| Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11–q22.3 |
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| An efficient chemical method to generate repetitive sequences depleted DNA probes |
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| Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review |
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| Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia |
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| Deletion at 14q22‐23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies |
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| Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1) |
|
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|
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| Normal values for morphological abnormalities in school children |
|
✓ |
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|
✓ |
✓ |
mixed ethnic backgrounds |
| The molecular etiologies and associated phenotypes of amelogenesis imperfecta |
|
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|
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| Looking different: Understanding diversity in facial form |
|
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| Clinical dividends from the molecular genetic diagnosis of craniosynostosis |
|
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|
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| <i>RMRP</i> mutations in cartilage‐hair hypoplasia |
|
|
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|
|
✓ |
✓ |
ethnically heterogeneous; ethnically homogenous groups |
| Microdissection‐based high‐resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes |
|
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| Trisomy 8q and partial trisomy 22 in a 43‐year‐old man with moderate intellectual disability, epilepsy and large cell non‐Hodgkin lymphoma |
|
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| Congenital malformations among liveborn infants with trisomies 18 and 13 |
|
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| Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus |
|
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| Origin and mechanisms of formation of fetus‐in‐fetu: Two cases with genotype and methylation analyses |
|
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| Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth |
|
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|
|
| Frontometaphyseal dysplasia: Mutations in <i>FLNA</i> and phenotypic diversity |
|
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|
|
| Identification of a novel <i>COCH</i> mutation, G87W, causing autosomal dominant hearing impairment (DFNA9) |
|
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|
|
| Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1) |
|
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|
|
| Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review |
|
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| Muscle involvement and motor function in amyoplasia |
|
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| Letter from Baghdad: Coffin–Siris syndrome in a girl with absent kidney |
|
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| A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1–q14 |
|
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| Familial congenital non‐immune hydrops |
|
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| Genetic disorders among Palestinian Arabs. 4: Genetic clinics in the community |
|
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| Sudden infant death syndrome: Case‐control frequency differences in paired like homeobox (<i>PHOX</i>) <i>2B</i> gene |
|
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|
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| First report of prevalence of non‐syndromic hereditary prosopagnosia (HPA) |
|
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|
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| Pre‐ and postnatal findings in trisomy 17 mosaicism |
|
|
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|
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| Distinguishing Costello versus cardio‐facio‐cutaneous syndrome: <i>BRAF</i> mutations in patients with a Costello phenotype |
|
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|
|
| Growth hormone therapy and scoliosis in patients with Prader–Willi syndrome |
|
|
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|
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|
|
| Mutational and genotype–phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome |
|
|
|
|
|
|
✓ |
✓ |
Polish |
| A newly recognized autosomal recessive syndrome with short stature and oculo‐skeletal involvement |
|
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|
|
| Further cases of “neighbor” mutations in mucopolysaccharidosis type II |
|
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|
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| Osteocraniostenosis–hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro‐osseous morphology |
|
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|
|
|
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|
|
| Non‐random associations and vascular fields in neurofibromatosis 1: A pathogenetic hypothesis |
|
|
|
|
|
|
✓ |
✓ |
African Americans |
| Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline‐normal PDH complex activity |
|
|
|
|
|
|
✓ |
✓ |
Ashkenazi Jewish population |
| Congenital diaphragmatic hernia associated with duplication of 11q23‐qter |
|
|
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|
|
| Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies |
|
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|
|
| Additional mitochondrial DNA mutations may explain extra‐ocular involvement in LHON |
|
|
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|
|
| Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect |
|
|
|
|
|
|
|
|
|
| Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q |
|
|
|
|
|
|
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|
|
| Book review |
|
|
|
|
|
|
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|
|
| Response to letter by Arti Nanda et al. |
|
|
|
|
|
|
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|
|
| Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non‐syndromic split‐hand/foot malformation |
|
|
|
|
|
|
|
|
|
| Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated <i>FMR1</i> mRNA levels in a high‐functioning fragile X male |
|
|
|
|
|
|
|
|
|
| The near universal presence of autism spectrum disorders in children with Smith–Lemli–Opitz syndrome |
|
|
|
|
|
|
|
|
|
| A newborn with anophthalmia and pulmonary hypoplasia (the Matthew–Wood syndrome) |
|
|
|
|
|
|
|
|
|
| Book review |
|
|
|
|
|
|
|
|
|
| Antenatal presentation of the oculo‐auriculo‐vertebral spectrum (OAVS) |
|
|
|
|
|
|
|
|
|
| Atypical facial clefting in a patient with Goltz syndrome |
|
|
|
|
|
|
|
|
|
| Genitopatellar syndrome: Expanding the phenotype and excluding mutations in <i>LMX1B</i> and <i>TBX4</i> |
|
|
|
|
|
|
|
|
|
| An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation |
|
|
|
|
|
✓ |
|
|
European populations |
| Renal malformations in deletion 22q11.2 patients |
|
|
|
|
|
|
|
|
|
| The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies |
|
|
|
|
|
|
|
|
|
| Nicotine metabolizing genes <i>GSTT1</i> and <i>CYP1A1</i> in sudden infant death syndrome |
|
|
|
|
|
|
|
|
|
| Consanguineous marriage and congenital heart defects: A case‐control study in the neonatal period |
|
|
|
|
|
|
|
|
|
| A new cohort of <i>MECP2</i> mutation screening in unexplained mental retardation: Careful re‐evaluation is the best indicator for molecular diagnosis |
|
|
|
|
|
|
|
|
|
| The expanding panorama of split hand foot malformation |
|
|
|
|
|
|
|
|
|
| A new detection method for <i>ATRX</i> gene mutations using a mismatch‐specific endonuclease |
|
|
|
|
|
|
|
|
|
| <i>CHD7</i> gene and non‐syndromic cleft lip and palate |
|
|
|
|
|
|
|
|
|
| Language skills and neuropsychological performance in patients with <i>SHH</i> mutations and a holoprosencephaly‐like phenotype |
|
|
|
|
|
|
|
|
|
| A germline <i>PTEN</i> mutation with manifestations of prenatal onset and verrucous epidermal nevus |
|
|
|
|
|
|
|
|
|
| Thanatophoric dysplasia type 2 with encephalocele during the second trimester |
|
|
|
|
|
|
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|
|
| A study of familial stuttering |
|
|
|
|
|
|
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|
|
| Book review |
|
|
|
|
|
|
|
|
|
| Problems in the naming of genes |
|
|
|
|
|
|
|
|
|
| Holoprosencephaly: Clinical evaluation on audiological and brainstem electrophysiological profiles |
|
|
|
|
|
|
|
|
|
| Autosomal dominant atretic cephalocele with phenotype variability: Report of a Brazilian family with six affected in four generations |
|
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|
|
|
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|
|
| Using the TBX5 transcription factor to grow and sculpt the heart |
|
|
|
|
|
|
|
|
|
| The use of inappropriate, demeaning, and pejorative terminology in gene nomenclature: A comment on Feingold |
|
|
|
|
|
|
|
|
|
| Craniofacial dyssynostosis in two boys with apparently normal cognitive development |
|
|
|
|
|
|
|
|
|
| Blepharophimosis‐mental retardation (BMR) syndromes: A proposed clinical classification of the so‐called Ohdo syndrome, and delineation of two new BMR syndromes, one X‐linked and one autosomal recessi |
|
|
|
|
|
|
|
|
|
| A new case of Grange syndrome without cardiac findings |
|
|
|
|
|
|
|
|
|
| Metaphyseal dysplasia of Braun–Tinschert type: Report of a Japanese girl |
|
|
|
|
|
|
✓ |
✓ |
Japanese; Germans; Bohemia |
| Nablus mask‐like facial syndrome is caused by a microdeletion of 8q detected by array‐based comparative genomic hybridization |
|
|
|
|
|
|
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|
|
| Pattern of <i>p63</i> mutations and their phenotypes—update |
|
|
|
|
|
|
|
|
|
| Overgrowth with severe developmental delay following IVF/ICSI: A newly recognized syndrome? |
|
|
|
|
|
|
|
|
|
| PHOX2B analysis in non‐syndromic neuroblastoma cases shows novel mutations and genotype–phenotype associations |
|
|
|
|
|
|
|
|
|
| Book review |
|
|
|
|
|
|
|
|
|
| Identification of a novel <i>EYA1</i> mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum |
|
|
|
|
|
|
|
|
|
| Autosomal dominant syndrome resembling Coffin–Siris syndrome |
|
|
|
|
|
|
|
|
|
| Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population |
|
|
|
|
|
|
✓ |
✓ |
Japanese; Western populations |
| Epilepsy and deletions at chromosome 2q24 |
|
|
|
|
|
|
|
|
|
| Split‐hand/split‐foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region |
|
|
|
|
|
|
|
|
|
| Report of a del22q11 in a patient with Mayer‐Rokitansky‐Küster‐Hauser (MRKH) anomaly and exclusion of <i>WNT‐4</i>, <i>RAR‐gamma</i>, and <i>RXR‐alpha</i> as major genes determining MRKH anomaly in a |
|
|
|
|
|
|
|
|
|
| Periventricular nodular heterotopia and Williams syndrome |
|
|
|
|
|
|
|
|
|
| New cases of Bohring–Opitz syndrome, update, and critical review of the literature |
|
|
|
|
|
|
|
|
|
| Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome |
|
|
|
|
|
|
|
|
|
| Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome |
|
|
|
|
|
|
|
|
|
| Re: Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies [Brancati et al., 2005: Am J Med Genet 139A:212–215] |
|
|
|
|
|
|
|
|
|
| Evaluation of <i>SLC35A3</i> as a candidate gene for human vertebral malformations |
|
|
|
|
|
|
|
|
|
| Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis |
|
|
|
|
|
|
|
|
|
| A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features |
|
|
|
|
|
|
|
|
|
| Book review |
|
|
|
|
|
|
|
|
|
| Unexpected resiliency |
|
|
|
|
|
|
|
|
|
| Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP |
|
|
|
|
|
|
|
|
|
| The FG syndrome: Report of a large Italian series |
|
|
|
|
|
|
✓ |
✓ |
Italian |
| Clinical and molecular characterization of individuals with 18p deletion: A genotype–phenotype correlation |
|
|
|
|
|
|
|
|
|
| 3′ UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: Haplotype analysis |
|
|
|
|
|
|
|
|
|
| Book review |
|
|
|
|
|
|
|
|
|
| Reflections of our past: How human history is revealed in our genes |
|
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|
|
|
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|
|
| Skewed X‐chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients |
|
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| A novel <i>RSK2</i> (<i>RPS6KA3</i>) gene mutation associated with abnormal brain MRI findings in a family with Coffin–Lowry syndrome |
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| A constitutional telomeric translocation showing meiotic instability |
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| Array‐based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation |
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| Genotype–phenotype correlations in mapped split hand foot malformation (SHFM) patients |
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| Camptodactyly, joint contractures, facial, and skeletal defects: Further delineation of the Rozin camptodactyly syndrome |
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| Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: Clinical and genetic analysis |
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✓ |
✓ |
Arab family from the United Arab Emirates (UAE) |
| Gastrointestinal phenotype of ATR‐X syndrome |
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| Split hand foot malformation (SHFM): An introduction |
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| A missense mutation in the <i>ZFHX1B</i> gene associated with an atypical Mowat–Wilson syndrome phenotype |
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| T‐genes and limb bud development |
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| Neurobehavioral disorders in patients with Aarskog–Scott syndrome affected by novel <i>FGD1</i> mutations |
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| <i>Dlx</i> homeobox gene control of mammalian limb and craniofacial development |
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| Clinical and epidemiological findings in patients with central ray deficiency: Split hand foot malformation (SHFM) in Manitoba, Canada |
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| De novo pure 12q22q24.33 duplication: First report of a case with mental retardation, ADHD, and Dandy‐Walker malformation |
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| Intrachromosomal triplication 12p11.22–p12.3 and gonadal mosaicism of partial tetrasomy 12p<sup>,</sup>** |
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| Pregnancy outcome of fetuses with trisomy 18 identified by prenatal sonography and chromosomal analysis in a perinatal center |
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| A population‐based case‐control study of isolated primary congenital glaucoma |
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✓ |
✓ |
Gypsy origin; Hungarian Gypsy population |
| Response to “Letter: Fibular Aplasia, Tibial Campomelia and Oligosyndactyly” by Evans and Elliott |
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| Familial thoracic aortic aneurysms and dissections: Three families with early‐onset ascending and descending aortic dissections in women |
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| WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH |
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| Pervasive developmental disorders in Prader–Willi syndrome: The Leuven experience in 59 subjects and controls |
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| Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: The Chudley–McCullough syndrome |
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| Chilean primary health workers' knowledge about folic acid supplementation for the prevention of neural tube defects |
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| Response to the Alvarez Nava and Puerta “Y‐chromosome microdeletions in 45,X/46,XY patients” |
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| Keutel syndrome with overlapping features of cutis laxa: A new variant |
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| Schizophrenia in an adult with 6p25 deletion syndrome |
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| Desbuquois syndrome in three sisters with significantly different lengths of survival |
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| The neonatal phenotype of Prader–Willi syndrome |
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| A compound heterozygote harboring novel and recurrent <i>DTDST</i> mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia |
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| Oto‐spondylo‐megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in the <i>COL11A2</i> gene |
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✓ |
✓ |
Egyptian |
| Congenital chylothorax in Opitz G/BBB syndrome |
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| Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion |
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| A novel duplication/insertion mutation of <i>NEFL</i> in a patient with Charcot‐Marie‐Tooth disease |
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| Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome (Am J Med Genet 140A:17–23, 2006) |
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| Y‐chromosome microdeletions in 45,X/46,XY patients |
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| del5p/dup5q in a ‘cri du chat’ patient without parental chromosomal rearrangement |
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| Letter re: Fibula aplasia, tibial campomelia, and oligodactyly |
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| Introductory comments special section: Trisomy 18 |
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| A balanced reciprocal translocation in a case of hypomelanosis of Ito with confirmation of mosaicism using buccal cell interphase FISH |
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| Bilateral periventricular heterotopias in an X‐linked dominant transmission in a family with two affected males |
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| <i>FBN1</i>, <i>TGFBR1</i>, and the Marfan‐craniosynostosis/mental retardation disorders revisited |
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| Lack of meiotic crossovers during oogenesis in an apparent 45,X Ullrich–Turner syndrome patient with three children |
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| Literature searches of double trisomy citations are inadequate |
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| Thyroid anomalies in Williams syndrome: Investigation of 95 patients |
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| Linkage analysis of genetic loci for kyphoscoliosis on chromosomes 5p13, 13q13.3, and 13q32 |
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| Maternal genotype for the monocyte chemoattractant protein 1 A(‐2518)G promoter polymorphism is associated with the risk of spina bifida in offspring |
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| Meiotic segregation analysis of reciprocal translocations both in sperms and blastomeres |
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| Genotype–epigenotype–phenotype correlations in females with frontometaphyseal dysplasia |
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| Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI‐derived fetus with multiple abnormalities |
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| Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women |
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| Aplasia and duplication of the thumb and facial clefts associated with fetal trisomy 18 |
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| Prenatal diagnosis of hypochondroplasia: Report of two cases |
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| Can we exclude the <i>TXNIP</i> gene as a candidate gene for familial combined hyperlipidemia? |
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| Familial Klippel–Feil anomaly and t(5;8)(q35.1;p21.1) translocation |
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| Trisomy 18 in a second 20‐year‐old woman |
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| Clarification of data reported in “Cleidocranial Dysplasia: Molecular Genetic Analysis and Phenotypic‐Based Description of a Middle European Patient Group” (AJMG 139A:78–85) |
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✓ |
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Middle European |
| Behavioral and temperamental features of children with Costello syndrome |
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| Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1 |
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| A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications |
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| Reporting genetic results in research studies: Summary and recommendations of an NHLBI working group |
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| Maternal polymorphisms 677C‐T and 1298A‐C of MTHFR, and 66A‐G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a |
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| Screening for conditions that do not meet the Wilson and Jungner criteria: The case of Duchenne muscular dystrophy |
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| HOXA1 mutations are not a common cause of Duane anomaly |
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| No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome |
|
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| Regarding trisomy 18 |
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| A species not extinct: Publication of case reports and scientific knowledge |
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| Metabolic disorders detectable by tandem mass spectrometry and unexpected early childhood mortality: A population-based study |
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| De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature |
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| Non-lethal congenital hypotonia due to glycogen storage disease type IV |
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| Survival with trisomy 18—data from Switzerland |
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| Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988–2004 |
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| Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment |
|
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| Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of theCIAS1 gene and response to interleukin-1 receptor antagonist treatment |
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| Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) |
|
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| A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2 |
|
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| A Japanese boy with apparent Bohring-Opitz or “C-like” syndrome |
|
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|
✓ |
|
Japanese |
| Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic |
|
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| The perceived personal control (PPC) questionnaire as an outcome of genetic counseling: Reliability and validity of the instrument |
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| Rapp–Hodgkin ectodermal dysplasia syndrome: The clinical and molecular overlap with Hay–Wells syndrome |
|
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| Phenotype resembling Donnai–Barrow syndrome in a patient with 9qter;16qter unbalanced translocation |
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| Genotype–phenotype correlation of the Wilson diseaseATP7B gene |
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| Association of Adams–Oliver syndrome and hepatoportal sclerosis: An additional case |
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| CHARGE syndrome: Relations between behavioral characteristics and medical conditions |
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| AtypicalZFHX1B mutation associated with a mild Mowat–Wilson syndrome phenotype |
|
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| Bioethics and the new embryology: Springboards for debate. By Scott F. Gilbert, Anna L. Tyler, and Emily J. Zackin. Sinauer Associates Inc., Sunderland, 2005 |
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| Malformations in children with cancer |
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| Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations |
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| Progressive osseous heteroplasia controlled by intravenous administration of pamidronate |
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| The <i>ARX</i> mutations: A frequent cause of X‐linked mental retardation |
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| Tracheobronchial anomalies in chromosome 22q11.2 microdeletion |
|
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| Familial dilated cardiomyopathy hypergonadotrophic hypogonadism associated with thyroid hemiagenesis |
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| Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy |
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| Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: Blind men and an elephant or separate syndromes? |
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| Fetus with two identical reciprocal translocations: Description of a rare complication of consanguinity |
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| Familial recurrence of anomalous origin of right pulmonary artery from the aorta |
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| Thirty‐two year follow‐up of the first patient reported with the Floating‐Harbor syndrome |
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| Acceptance of genetic testing for hereditary breast ovarian cancer among study enrollees from an African American kindred |
|
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| Phosphatidylethanolamine <i>N</i>‐methyltransferase (<i>PEMT</i>) gene polymorphisms and risk of spina bifida |
|
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| Correspondence concerning Hunter and Yotsuyanagi's “The External Ear: More Attention to Detail May Aid Syndrome and Contribute Answers to Embryological Questions” |
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| Response to Bader et al. letter addressing “The External Ear: More Attention to Detail May Aid Syndrome Diagnosis and Contribute Answers to Embryological Questions” |
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| LEOPARD syndrome: Clinical diagnosis in the first year of life |
|
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| Dural ectasia in children with Marfan syndrome: A prospective, multicenter, patient‐control study |
|
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| Prader–Willi syndrome: Development and manifestations. By Joyce Whittington and Tony Holland |
|
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|
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| Research on stored biological samples: Views of African American and White American cancer patients |
|
|
✓ |
✓ |
|
|
✓ |
✓ |
African American; White American |
| A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance |
|
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| Arithmetic difficulties in females with the fragile X premutation |
|
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| The principles of clinical cytogenetics, second edition. Edited by S.L. Gersen and M.B. Keagle. Humana Press, Totowa, NJ, 2005, 596p. |
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| Nonimmune idiopathic hydrops fetalis and congenital lymphatic dysplasia |
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| The von Hippel–Lindau (<i>VHL</i>) germline mutation V84L manifests as early‐onset bilateral pheochromocytoma |
|
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|
|
| <i>NTNG1</i> mutations are a rare cause of Rett syndrome |
|
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| The natural history of trisomy 12p |
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| Orofaciodigital syndrome with cerebral dysgenesis |
|
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| Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome |
|
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| A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies |
|
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| Cognitive‐behavioral profiles of females with the fragile X mutation |
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| Discordant encephalocele in monozygotic twins |
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| Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder |
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| Case of chromosome 6p25 terminal deletion associated with Axenfeld–Rieger syndrome and persistent hyperplastic primary vitreous |
|
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|
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| Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease |
|
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|
|
| Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11‐q13 |
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| Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences |
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| Chimerism in twins: Caution is needed in interpretation of karyotypes |
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| Spondylo‐ocular syndrome: A new entity involving the eye and spine |
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| Variable phenotype and associations in chromosome 22q11.2 microdeletion |
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|
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| Primary palmar hyperhidrosis locus maps to 14q11.2‐q13 |
|
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| Genetics and life insurance: Medical underwriting and social policy. Edited by Mark A. Rothstein. The MIT Press, 2004, 293p. |
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|
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| Genetics of developmental disabilities. Edited by Merlin G. Butler and F. John Meaney. |
|
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| Angelman syndrome 2005: Updated consensus for diagnostic criteria |
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| Dyggve–Melchior–Clausen syndrome and Smith–McCort dysplasia: Clinical and molecular findings in three families supporting genetic heterogeneity in Smith–McCort dysplasia |
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| Severe, fetal‐onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? |
|
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| Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation |
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| Inverse association between severe nausea and vomiting in pregnancy and some congenital abnormalities |
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| Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations* |
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| The biallelic expression pattern of X‐linked genes in Klinefelter syndrome by pyrosequencing |
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| Klinefelter syndrome and mediastinal germ cell tumors |
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| Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay* |
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|
| Extended mutational analyses of <i>FGFR1</i> in osteoglophonic dysplasia |
|
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| A truncating mutation in the <i>IL1RAPL1</i> gene is responsible for X‐linked mental retardation in the MRX21 family |
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| Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves <i>FOXP2</i> |
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| <i>POR</i> R457H is a global founder mutation causing Antley–Bixler syndrome with autosomal recessive trait |
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| Recurrence of <i>SOX2</i> anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother |
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| Variable contribution of the <i>MTHFR</i> C677T polymorphism to non‐syndromic cleft lip and palate risk in China |
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| Mitochondrial dysfunction in Brooks–Wisniewski–Brown syndrome |
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| Healthy 12‐year‐old boy with mosaic inv dup(15)(q13) |
|
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| Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome (<i>Am J Med Genet</i> |
|
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| Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome |
|
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| Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (<i>PTPN22</i>): Association between a promoter polymorphism and type 1 diabetes in Asian populations |
|
✓ |
|
|
|
✓ |
|
|
European descent |
| A novel mutation in the DNA‐binding domain of <i>MAF</i> at 16q23.1 associated with autosomal dominant “cerulean cataract” in an Indian family |
|
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| Wiedemann–Rautenstrauch syndrome's fibroblasts display a normal in vitro lifespan |
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| Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23‐week gestation fetus with atrioventricular septal defect |
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| Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome |
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| Ring chromosome 4 and Wolf–Hirschhorn syndrome (WHS) in a child with multiple anomalies |
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| A 9‐year‐old male with a duplication of chromosome 3p25.3p26.2: Clinical report and gene expression analysis |
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| A nonsense mutation of <i>PEPD</i> in four Amish children with prolidase deficiency |
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✓ |
✓ |
Amish |
| Mosaic trisomy 8 and Townes–Brocks syndrome due to a novel <i>SALL1</i> mutation in the same patient |
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| Welcome to the genome. A user's guide to the genetic past, present, and future. By Rod DeSalle and Michael Yudell. Wiley‐Liss, Hoboken, NJ, 2005, 215 p. |
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| Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2‐22.3 with a highly variable phenotype in female carriers |
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| Hypoparathyroidism‐retardation‐dysmorphism syndrome in a girl: A new variant not caused by a <i>TBCE</i> mutation—clinical report and review |
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| AGTR2 in brain development and function |
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| Role of leptin in regulating appetite, neuroendocrine function, and bone remodeling |
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| 18q deletions: Clinical, molecular, and brain MRI findings of 14 individuals |
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| The use of inappropriate, demeaning, and pejorative terminology to describe syndromes |
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| Manifestations in a family with autosomal dominant bone fragility and limb‐girdle myopathy |
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| A subterminal deletion of the long arm of chromosome 10: A clinical report and review |
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| Obstructive sleep apnea in Costello syndrome |
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| BAC array CGH reveals genomic aberrations in idiopathic mental retardation |
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| A microdeletion in Xp11.3 accounts for co‐segregation of retinitis pigmentosa and mental retardation in a large kindred |
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| Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion |
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| Schimke immuno‐osseous dysplasia: A cell autonomous disorder? |
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| Andersen‐Tawil syndrome: Prospective cohort analysis and expansion of the phenotype |
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| Narrowing candidate region for monosomy 9p syndrome to a 4.7‐Mb segment at 9p22.2‐p23 |
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| Response to Feingold's: The use of inappropriate, demeaning, and perjorative terminology to describe syndromes |
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| Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning <i>RUNX2</i> and <i>VEGF</i> |
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| Familial congenital non‐immune hydrops, chylothorax, and pulmonary lymphangiectasia |
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| Restrictive dermatopathy: A lethal congenital dermatosis and review of literature |
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| Familial adenomatous polyposis (FAP): Genotype correlation to FAP phenotype with osteomas and sebaceous cysts |
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✓ |
✓ |
Danish |
| Diagnosis and management of heterokaryotypic monochorionic twins |
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| Pure direct duplication (12)(q24.1 → q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies |
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| Behavioral management of a long‐term survivor with tetrasomy 18p |
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| De novo pericentric inversion of chromosome 5 in a girl with mental retardation and unilateral ear malformation |
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| A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel <i>SALL4</i> mutation |
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| Finlay–Marks (SEN) syndrome: A sporadic case and the delineation of the syndrome |
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| Shprintzen–Goldberg omphalocele syndrome: A new patient with an expanded phenotype |
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| Karyotype–phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit |
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| Monoallelic <i>BUB1B</i> mutations and defective mitotic‐spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome |
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| Yellow teeth, seizures, and mental retardation: A less severe case of Kohlschütter–Tönz syndrome |
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| Two cases of partial trisomy 21 (pter‐q22.1) without the major features of Down syndrome |
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| Characterization of mosaic supernumerary ring chromosomes by array‐CGH: Segmental aneusomy for proximal 4q in a child with tall stature and obesity |
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| A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3‐p11.2 |
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| A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness‐dystonia (Mohr–Tranebjaerg) syndrome |
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✓ |
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Spanish |
| Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoa |
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| Severe complications in a child with achondroplasia and two <i>FGFR3</i> mutations on the same allele |
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| High heritability of fingertip arch patterns in twin‐pairs |
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| Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: Further evidence for phenotypic heterogeneity |
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