| Holoprosencephaly‐diencephalic hamartoma: Sequence or pleiotropy? |
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| Polymorphisms in <i>KCNE1</i> or <i>KCNE3</i> are not associated with Ménière disease in the Caucasian population |
✓ |
✓ |
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| Phenotypic map in ring 14 syndrome |
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| Loss of <i>N</i>‐acetylglucosamine‐1‐phosphotransferase gamma subunit due to intronic mutation in <i>GNPTG</i> causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics |
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| Various types of <i>LRP5</i> mutations in four patients with osteoporosis‐pseudoglioma syndrome: Identification of a 7.2‐kb microdeletion using oligonucleotide tiling microarray |
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| A novel <i>UBE3A</i> truncating mutation in large Tunisian Angelman syndrome pedigree |
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| Holoprosencephaly‐diencephalic hamartoma: Sequence or pleiotropy? |
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| An 18‐year follow‐up report on an infant with a duplication of 9q34 |
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| ACLU case against Myriad Genetics |
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| In this issue |
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| Table of Contents, Volume 152A, Number 1, January 2010 |
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| Diagnostic utility of daytime salivary melatonin levels in Smith–Magenis syndrome |
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| Wolf–Hirschhorn syndrome and ectrodactyly: New findings and a review of the literature |
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| An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy |
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| Homozygosity for the common mutation c.1085dupT in the <i>ZMPSTE24</i> gene in a Mennonite baby with restrictive dermopathy and placenta abruption |
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✓ |
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Mennonite |
| Ring chromosome 14 mosaicism: An unusual case associated with developmental delay and epilepsy, characterized by genome array‐CGH |
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| Speech characteristics in neurofibromatosis type 1 |
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| Further evidence for <i>EpCAM</i> as the gene for congenital tufting enteropathy |
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| Left ventricular noncompaction: A rare disorder in adults and its association with 1p36 chromosomal anomaly |
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| Book review |
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| Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: A novel epidermal nevus syndrome |
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| A de novo 8.8‐Mb deletion of 21q21.1–q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21 |
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| GAPO syndrome associated with craniofacial vascular malformation |
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| Genetic counseling for schizophrenia: A review of referrals to a provincial medical genetics program from 1968 to 2007 |
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| Variegated aneuploidy and ring chromosome syndromes overlap |
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| Draft recommendations suggest HHS exempt gene patents from infringement liability |
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| Living with Costello syndrome: Quality of life issues in older individuals |
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| A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations |
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| Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia |
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| Chromosome 6 between‐arm intrachromosomal insertion with intrasegmental double inversion: A four‐break model |
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| Ectodermal dysplasia‐like syndrome with mental retardation due to contiguous gene deletion: Further clinical and molecular delineation of del(2q32) syndrome |
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| Risk of breast cancer not increased in translocation 11;22 carriers: Analysis of 80 pedigrees |
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| <i>CHN1</i> mutations are not a common cause of sporadic Duane's retraction syndrome |
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| An unusual phenotypic presentation of trisomy 18 |
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| Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia |
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| College athletes should get sickle cell trait tests, NCAA advises |
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| More African American genetic counselors needed |
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| American Journal of Medical Genetics Part A: Volume 152A, Number 1, January 2010 |
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| Two patients with <i>EP300</i> mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome |
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| Mild Wolf–Hirschhorn phenotype in a girl with unbalanced t(4p;12p) translocation without seizures |
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| Morphometric analysis and classification of the facial phenotype associated with fetal alcohol syndrome in 5‐ and 12‐year‐old children |
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✓ |
✓ |
mixed ancestry population |
| Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back |
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| Floating‐Harbor syndrome associated with middle ear abnormalities |
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| The process of deciding about prophylactic surgery for breast and ovarian cancer: Patient questions, uncertainties, and communication |
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| Fowler syndrome—A clinical, radiological, and pathological study of 14 cases |
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| Novel cardiac findings in periventricular nodular heterotopia |
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| Hypospadias in males with intrauterine growth restriction due to placental insufficiency: The placental role in the embryogenesis of male external genitalia |
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| Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C‐terminal region of <i>RUNX2</i> |
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| Analysis of short‐term behavioral effects of dietary cholesterol supplementation in Smith–Lemli–Opitz syndrome |
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| Deletion of the <i>CUL4B</i> gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia |
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| Hedgehog signaling: Endocrine gland development and function |
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| Word smithing in medical genetics |
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| Amelia, cleft lip, and holoprosencephaly: A distinct entity |
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| Ulnar mammary syndrome and <i>TBX3</i>: Expanding the phenotype |
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| Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia |
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| “It's something I need to consider”: Decisions about carrier screening for fragile X syndrome in a population of non‐pregnant women |
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| Pseudoaminopterin syndrome: Clinical report with new characteristics |
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| A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities |
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✓ |
✓ |
Muslim Arab origin from a village located in Northern Israel |
| Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism |
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| Tetrasomy 5p mosaicism due to an additional isochromosome 5p in a man with normal phenotype |
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| Abnormal muscle development of the diaphragm in a fetus with 2p14–p16 duplication |
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| American Journal of Medical Genetics Part A: Volume 149A, Number 12, December 2009 |
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| The AJMG SEQUENCE: Decoding news and trends for the medical genetics community |
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| Absence of Lamin A/C gene mutations in four Wiedemann–Rautenstrauch syndrome patients |
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| Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome |
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| A duplication encompassing the <i>SHOX</i> gene and the downstream evolutionarily conserved sequences |
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| Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor |
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| Altered transmission of <i>HOX</i> and apoptotic SNPs identify a potential common pathway for clubfoot |
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✓ |
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✓ |
✓ |
non-Hispanic white; Hispanic |
| Familial occurrence of an association of multiple intestinal atresia and choanal atresia: A new syndrome? |
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| Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III |
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| Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother |
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| Richieri‐Costa and Pereira form of acrofacial dysostosis: First description of an adult with mesomelic shortness of the lower limbs |
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| Response to Klinger and Merlob re: Case description with review of the literature. Am J Med Genet Part A 149A:1597–1602, 2009 |
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| Mardini–Nyhan association (lung agenesis, congenital heart, and thumb anomalies): Three new cases and possible recurrence in a sib—Is there a distinct recessive syndrome? |
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| Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers |
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| Genome‐wide linkage scan of nonsyndromic orofacial clefting in 91 families of central European origin |
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✓ |
✓ |
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central European origin; central European descent |
| Poland sequence with bilateral features: A suggestion |
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| Table of Contents, Volume 149A, Number 12, December 2009 |
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| Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: Autosomal dominant or X‐linked syndrome? |
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| Vertebral defects as an unusual mode of presentation of 22q11.2 deletion |
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| Father‐to‐son transmission of an X‐linked gene: A case of paternal sex chromosome heterodisomy |
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| Pre‐ and postnatal findings in a boy with duplication of the bladder and intestine: Report and review |
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| The phenotypic spectrum of contiguous deletion of <i>CYP21A2</i> and tenascin XB: Quadricuspid aortic valve and other midline defects |
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| Novel <i>SOX2</i> mutations and genotype–phenotype correlation in anophthalmia and microphthalmia |
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| Recurrence risks for trisomies 13, 18, and 21 |
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| Absence of SIX3 mutations in patients with congenital hypopituitarism |
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| Mutation analysis of <i>SOX9</i> and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia |
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| Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome |
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| Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome |
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| Expanding the phenotype of duplication of the Rubinstein–Taybi region on 16p13.3 |
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| Nonsyndromic alar clefts: Report of five Brazilian patients |
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| Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype |
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| Rare rearrangements: A “jumping satellite” in one family and autosomal location of the <i>SRY</i> gene in an XX male |
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| Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy |
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✓ |
✓ |
Turkish |
| Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature |
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| Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate |
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| Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach–Rott syndrome |
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| Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH |
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| Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation |
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| Down syndrome: Comments and reflections on the 50th anniversary of Lejeune's discovery |
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| Three patients with oculo‐auriculo‐vertebral spectrum and microdeletion 22q11.2 |
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| Developmental disability and hypomelanosis of Ito in a female with 7.3 Mb de novo duplication of Xp11.3‐p11.4 and random X inactivation |
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| Down syndrome (trisomy 21) with premaxillary agenesis and semilobar holoprosencephaly |
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| Paternal balanced reciprocal translocation t(9;22)(q34.3;q11.2) resulting in an lnfant with features of the 9q subtelomere and the 22q11 deletion syndromes due to 3:1 meiotic segregation and tertiary |
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| Interstitial deletion 5q14.3‐q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder |
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| Population‐based Tay‐Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase a enzyme assay is essential for accurate testing |
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| The genetics of sleep disorders in humans: Narcolepsy, restless legs syndrome, and obstructive sleep apnea syndrome |
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| American Journal of Medical Genetics Part A: Volume 149A, Number 11, November 2009 |
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| Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the <i>NSD1</i> gene |
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| Maternal knowledge and attitudes about newborn screening for sickle cell disease and cystic fibrosis |
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| Psychosocial aspects of patients with Niemann‐Pick disease, type B |
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| Pure distal trisomy 2q: A rare chromosomal abnormality with recognizable phenotype |
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| The AJMG SEQUENCE: Decoding news and trends for the medical genetics community |
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| The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15 |
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| Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell–Silver syndrome |
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| Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome |
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✓ |
✓ |
Italian |
| Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter |
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| Compound heterozygosity for mutations in <i>PAX6</i> in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia |
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| Array‐based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth |
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| Mild clinical presentation in a child with prenatally diagnosed 45,X/47,XX,+18 mosaicism |
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| Table of Contents, Volume 149A, Number 11, November 2009 |
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| Progeroid syndrome with scleroderma‐like skin changes associated with homozygous R435C <i>LMNA</i> mutation |
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| Three novel mutations of the <i>IRF6</i> gene with one associated with an unusual feature in Van der Woude syndrome |
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| A de novo direct duplication of 16q22.1 → q23.1 in a boy with midface hypoplasia and mental retardation |
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| Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy |
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| Brainstem disconnection associated with nodular heterotopia and proatlantal arteries |
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| Severe hypertriglyceridemia and recurrent pancreatitis in a girl with type Ia glycogen storage disease and type III hyperlipoproteinemia |
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| Autosomal recessive diseases among the Athabaskans of the Southwestern United States: Recent advances and implications for the future |
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✓ |
✓ |
Na‐Dene, Athabaskans, Amerind, Eskimo/Aleuts, Navajo, Apache, Siberian |
| Characterization of a de novo complex chromosomal rearrangement in a patient with cri‐du‐chat and trisomy 5p syndromes |
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| <i>Fukutin</i> gene retrotransposal insertion in a non‐Japanese Fukuyama congenital muscular dystrophy (FCMD) patient |
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✓ |
✓ |
Japanese, Chinese, Japanese population, Chinese population |
| “Essentially” pure trisomy 3q27 → qter: Further delineation of the partial trisomy 3q phenotype |
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| Comprehensive<i>ZEB2</i>gene analysis for Mowat–Wilson syndrome in a North American cohort: A suggested approach to molecular diagnostics |
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| The lack of clinical distinction between the hypermobility type of Ehlers–Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome) |
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| Characterization of a new X‐linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus |
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| Genital anomalies in three male siblings with Simpson–Golabi–Behmel syndrome |
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| Parental perceived value of a diagnosis for intellectual disability (ID): A qualitative comparison of families with and without a diagnosis for their child's ID |
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| Conversion disorder in women with the <i>FMR1</i> premutation |
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| A new case of syndromic craniosynostosis with cryptic 19p13.2–p13.13 deletion |
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| Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients |
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| Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the <i>PCNT</i> gene |
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| X‐linked brachytelephalangic chondrodysplasia punctata: A simple trait that is not so simple |
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| Calvarial doughnut lesions and osteoporosis: A new three‐generation family and review |
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| De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasia |
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| Book review |
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| Satoyoshi syndrome with unusual skeletal abnormalities and parental consanguinity |
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| Weismann‐Netter syndrome and mental retardation: A new patient and review of the literature |
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| Pulmonary hypoplasia–diaphragmatic hernia–anophthalmia–cardiac defect (PDAC) syndrome due to <i>STRA6</i> mutations—What are the minimal criteria? |
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| Maternal attitudes toward DNA collection for gene–environment studies: A qualitative research study |
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✓ |
✓ |
non‐Hispanic Black; any race or ethnicity |
| Perspectives on<i>RUNX</i>genes: An update |
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| Prenatal diagnosis of Down syndrome: How best to deliver the news |
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| American Journal of Medical Genetics Part A: Volume 149A, Number 10, October 2009 |
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| Table of Contents, Volume 149A, Number 10, October 2009 |
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| The AJMG SEQUENCE: Decoding news and trends for the medical genetics community |
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| Mandibuloacral dysplasia type A in childhood |
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| Partial <i>ATRX</i> gene duplication causes ATR‐X syndrome |
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| Czech dysplasia occurring in a Japanese family |
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✓ |
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of European ancestry |
| Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: Fragile X leads to chromosome loss |
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| Confirmation of <i>TFAP2A</i> gene involvement in branchio‐oculo‐facial syndrome (BOFS) and report of temporal bone anomalies |
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| Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf–Hirschhorn syndrome. Report of two cases and review of the literature |
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| Genotype–phenotype correlations in VHL exon deletions |
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| Expanding <i>CEP290</i> mutational spectrum in ciliopathies |
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| Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV |
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| Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes |
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| A girl with distinctive features of borderline high blood pressure, short stature, characteristic brachydactyly, and 11.47 Mb deletion in 12p11.21–12p12.2 by oligonucleotide array CGH |
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| Interstitial deletion 2p11.2–p12: Further delineation |
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| Complex contributions of <i>Ets2</i> to craniofacial and thymus phenotypes of trisomic “Down syndrome” mice |
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| Floating–Harbor syndrome and intramedullary spinal cord ganglioglioma: Case report and observations from the literature |
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| 4.3‐Mb triplication of 4q32.1–q32.2: Report of a family through two generations |
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| Genetic research on stored tissue samples from minors: A systematic review of the ethical literature |
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| <i>CHM</i> gene molecular analysis and X‐chromosome inactivation pattern determination in two families with choroideremia |
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| Severe neonatal spondylometaphyseal dysplasia in two siblings |
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| Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia |
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| Clinical variability of Waardenburg–Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin‐B receptor locus |
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| Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options |
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| Detailed assessment of the ear in Cornelia de Lange syndrome: Comparison with a control sample using the new dysmorphology guidelines |
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| Microarray based analysis of 3p25‐p26 deletions (3p‐ syndrome) |
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| Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: Preliminary data suggest an involvement of epigenetic mechanisms |
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| Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers–Danlos syndrome |
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| Maternal medication use, carriership of the <i>ABCB1</i> 3435C > T polymorphism and the risk of a child with cleft lip with or without cleft palate |
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| A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome |
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| Inherited 14q duplication and 21q deletion: A rare adjacent‐2 segregation in multiple family members |
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| Cranioectodermal dysplasia: A probable ciliopathy |
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| Vitamin A deficiency in an infant with PAGOD syndrome |
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| Genomic duplication of <i>PTPN11</i> is an uncommon cause of Noonan syndrome |
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| Descriptive epidemiology of nonsyndromic omphalocele in Texas, 1999–2004 |
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| A genome‐wide screen for copy number alterations in Aicardi syndrome |
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| Case report supporting that the Barber–Say and ablepharon macrostomia syndromes could represent one disorder |
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| Fitzsimmons syndrome: Spastic paraplegia, brachydactyly and cognitive impairment |
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| Connective tissue involvement in two patients with features of cranioectodermal dysplasia |
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| Fontaine–Farriaux syndrome: A recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies |
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| Syngnathism in an infant born to consanguineous parents |
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| Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow‐up study documents progressive clinical course |
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| Phenotype–genotype correlation in a patient with co‐occurrence of Marfan and LEOPARD syndromes |
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| Petty–Laxova–Wiedemann progeroid syndrome: Further phenotypical delineation and confirmation of a rare syndrome of premature aging |
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| Evaluation of C677T and A1298C polymorphisms of the <i>MTHFR</i> gene as maternal risk factors for Down syndrome and congenital heart defects |
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| Book review |
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| Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: Detection by MLPA and breakpoint mapping by SNP array analysis |
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| Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (<i>THRB</i>) mutation and heterozygosity for Wilson d |
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| Pathologic changes of skin and hair in ankyloblepharon‐ectodermal defects‐cleft lip/palate (AEC) syndrome |
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| Facial clefting and oroauditory pathway manifestations in ankyloblepharon–ectodermal defects‐cleft lip/palate (AEC) syndrome |
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| Table of Contents, Volume 149A, Number 9, September 2009 |
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| The AJMG SEQUENCE: Decoding news and trends for the medical genetics community |
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| American Journal of Medical Genetics Part A: Volume 149A, Number 9, September 2009 |
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| Growth, nutritional, and gastrointestinal aspects of ankyloblepharon‐ectodermal defect‐cleft lip and/or palate (AEC) syndrome |
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| Craniofacial and anthropometric phenotype in ankyloblepharon–ectodermal defects–cleft lip/palate syndrome (Hay–Wells syndrome) in a cohort of 17 patients |
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| Spectrum of <i>p63</i> mutations in a selected patient cohort affected with ankyloblepharon‐ectodermal defects‐cleft lip/palate syndrome (AEC) |
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| Microdeletion syndrome 16p11.2‐p12.2: Clinical and molecular characterization |
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| Clinical lessons learned from the International Research Symposium on ankyloblepharon‐ectodermal defects‐cleft lip/palate (AEC) syndrome |
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| Classifying functional manifestations of ectodermal dysplasias |
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| Gene therapy and protein therapy of ectodermal dysplasias: A perspective |
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| 2008 International Conference on Ectodermal Dysplasias Classification: Conference report |
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| Importance of <i>PORCN</i> and Wnt signaling pathways in embryogenesis |
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| Oral findings in ankyloblepharon‐ectodermal dysplasia‐cleft lip/palate (AEC) syndrome |
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| ΔNp63 knockdown mice: A mouse model for AEC syndrome |
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| Dermatologic findings of ankyloblepharon‐ectodermal defects‐cleft lip/palate (AEC) syndrome |
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| Perspective on the classification of ectodermal dysplasia |
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| Molecular aspects of hypohidrotic ectodermal dysplasia |
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| What the future holds for ectodermal dysplasias: Future research and treatment directions |
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| Ectodermal dysplasias: Clinical and molecular review |
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| Approach towards a new classification for ectodermal dysplasias: Integration of the clinical and molecular knowledge |
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| A novel missense mutation in <i>SCYL1BP1</i> produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations |
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✓ |
✓ |
Saudi |
| Towards a unified classification of the ectodermal dysplasias: Opportunities outweigh challenges |
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| Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (Workshop II) |
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| Genetic testing in ectodermal dysplasia: Availability, clinical utility, and the nuts and bolts of ordering a genetic test |
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| New clinico‐genetic classification of trichothiodystrophy |
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| Cortisol levels in Prader–Willi syndrome support changes and routine care |
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| The AJMG SEQUENCE: Decoding news and trends for the medical genetics community |
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| Table of Contents, Volume 149A, Number 8, August 2009 |
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| American Journal of Medical Genetics Part A: Volume 149A, Number 8, August 2009 |
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| Iris hyperpigmentation in a Chinese family with ocular albinism and the <i>GPR143</i> mutation |
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| Evolution of a patient with Bohring–Opitz syndrome |
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| Clinical, molecular, and animal model studies in Cornelia de Lange syndrome and the cohesinopathies: Abstracts from the 3rd Scientific Cornelia de Lange Syndrome Symposium, 2008 |
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| Novel <i>FGFR2</i> deletion in a patient with Beare–Stevenson‐like syndrome |
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| Identification of two new mutations in <i>TRPS 1</i> gene leading to the tricho‐rhino‐phalangeal syndrome type I and III |
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| Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment |
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| Mosaic trisomy 1q: The longest surviving case |
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| Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in <i>ATP2A2</i> and <i>PAX6</i> |
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| Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in <i>SLC45A2</i> |
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✓ |
✓ |
Moroccan descent; African ethnic group; Belgian (nationality) |
| 3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother–daughter pairs |
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| Experience with hemihyperplasia and Beckwith–Wiedemann syndrome surveillance protocol |
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| Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review |
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| Non‐pathological paternal isodisomy of chromosome 2 detected from a genome‐wide SNP scan |
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| Keppen–Lubinsky syndrome: Expanding the phenotype |
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| Submicroscopic distal deletion of the long arm of chromosome 13(13q34) with corpus callosum agenesis |
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| Book review |
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| A 781‐kb deletion of 13q12.3 in a patient with Peters plus syndrome |
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| Search for genomic imbalances in a cohort of 20 patients with oral–facial–digital syndromes negative for mutations and large rearrangements in the <i>OFD1</i> gene |
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| Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration |
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| Expanding the phenotypic spectrum of acro‐cardio‐facial syndrome (ACFS): Exclusion of <i>P63</i> mutation |
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| A 1q42 deletion involving <i>DISC1</i>, <i>DISC2</i>, and <i>TSNAX</i> in an autism spectrum disorder |
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| Investigation of factors associated with paternal nondisjunction of chromosome 21 |
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| Nicolaides–Baraitser syndrome: Delineation of the phenotype |
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| Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients |
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| A de novo 1.9‐Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay |
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| Molecular characterization of two patients with de novo interstitial deletions in 4q22–q24 |
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| Prenatal diagnosis of mosaic complete trisomy 1q |
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| Morning melatonin levels in Prader–Willi syndrome |
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| The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects |
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| Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases |
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| A novel de novo 27 bp duplication of the <i>ARX</i> gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations |
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| Adams–Oliver syndrome: Additions to the clinical features and possible role of BMP pathway |
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| The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome |
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| A large X‐chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI) |
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| Jumping translocation in a phenotypically normal male: A study of mosaicism in spermatozoa, lymphocytes, and fibroblasts |
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| Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia |
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| Syndromes of the first and second pharyngeal arches: A review |
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| Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals |
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| Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder |
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| A synonymous mutation in <i>TCOF1</i> causes Treacher Collins syndrome due to mis‐splicing of a constitutive exon |
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| American Journal of Medical Genetics Part A: Volume 149A, Number 7, July 2009 |
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| Table of Contents, Volume 149A, Number 7, July 2009 |
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| The AJMG SEQUENCE: Decoding news and trends for the medical genetics community |
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| Boy with pseudohypoparathyroidism type 1a caused by <i>GNAS</i> gene mutation (deltaN377), Crouzon‐like craniosynostosis, and severe trauma‐induced bleeding |
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| Somatic mosaicism for Duchenne dystrophy: Evidence for genetic normalization mitigating muscle symptoms |
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| Band‐like intracranial calcification (BIC), microcephaly and malformation of brain development: A distinctive form of congenital infection like syndromes |
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| Book review |
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| Review of disrupted sleep patterns in Smith–Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion |
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| A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia |
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| Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta |
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✓ |
✓ |
Turkish families |
| Al‐Awadi/Raas‐Rothschild/Schinzel (AARRS) phocomelia syndrome: Case report and developmental field analysis |
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| Unusual four‐generation chromosome‐22 rearrangement: When “normality” masks abnormality |
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| Elements of morphology: Standard terminology for the ear—Additional features |
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| Response to letter from Professor Merlob and Dr. Klinger “Elements of Morphology: Standard Terminology for the Ear—Additional Features” |
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| Is there epidemiologic evidence to support vascular disruption as a pathogenesis of gastroschisis? |
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| High resolution genomic analysis of 18q− using oligo‐microarray comparative genomic hybridization (aCGH) |
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| A novel subtype of distal symphalangism affecting only the 4th finger |
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| Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication |
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| Molecular analysis of <i>PRKAG2</i>, <i>LAMP2</i>, and <i>NKX2‐5</i> genes in a cohort of 125 patients with accessory atrioventricular connection |
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| Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: The patients' perspective |
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| The earliest description of an autopsy on a case of Roberts syndrome reported in 1672: Some additions |
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| Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed‐lip schizencephaly and partial absence of the corpus callosum |
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| Massive lymphedema, atrial septal defect, mild mental retardation: Possible case of Irons–Bianchi syndrome |
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| Narrowing critical regions and determining penetrance for selected 18q‐ phenotypes |
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| Twin–twin transfusion resulting in fetal cell contamination in Beckwith–Wiedemann syndrome |
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| A boy with trisomy 13 presenting with a subtle clinical picture and metopic synostosis |
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| Deletion of <i>JAM‐C</i>, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice |
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| Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X‐linked ectodermal dysplasia |
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| Characteristics and frequency of seizure disorder in 56 patients with Prader–Willi syndrome |
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| Joubert syndrome with bilateral polymicrogyria: Clinical and neuropathological findings in two brothers |
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| Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects |
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| Oculocutaneous albinism spectrum |
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| Identification of a<i>SUFU</i>germline mutation in a family with Gorlin syndrome |
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| Lelis Syndrome may be a manifestation of hypohidrotic ectodermal dysplasia |
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| Somatic and germ‐line mosaicism in Rubinstein–Taybi syndrome |
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| Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array‐CGH |
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| Clinical and molecular characterization of duplications encompassing the human <i>SHOX</i> gene reveal a variable effect on stature |
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| Identification of novel <i>FBN1</i> and <i>TGFBR2</i> mutations in 65 probands with Marfan syndrome or Marfan‐like phenotypes |
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✓ |
✓ |
same ethnic background |
| Book review |
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| Poland syndrome with bilateral features: Case description with review of the literature |
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| Qualitative descriptors of disease incidence: Commonly used and frequently muddled |
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| Two cases of trisomy 16 mosaicism ascertained postnatally |
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| A case of Asian Indian OCA3 patient |
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| Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations |
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✓ |
✓ |
U.S. population; ethnically very different population; India; eastern part of India; human populatio |
| Congenital bilateral amazia associated with bilateral choanal atresia |
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| Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia |
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| Book review |
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| Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of <i>MSX2</i> with craniosynostosis |
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| Conjoined twins presenting with different sex: Description of a second case that truly represents the earliest historical evidence in humans |
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| Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene |
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| Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27–35 CAG) |
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| Clinical study of two brothers with a novel 33 bp duplication in the <i>ARX</i> gene |
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| Hartsfield holoprosencephaly–ectrodactyly syndrome in five male patients: Further delineation and review |
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| A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the <i>ZMPSTE24</i> gene |
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| Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype |
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| Genetic counseling for teratogenic risk due to exposure to medications: 89 pregnancies conceived during oral contraceptive use |
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| A need for classification agreement: Perspectives from an advocacy group |
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| From ectodermal dysplasia to selective tooth agenesis |
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| Ectodermal dysplasias: An overview and update of clinical and molecular‐functional mechanisms |
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| 3C syndrome |
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| Psychosocial functioning and quality of life in children and families affected by AEC syndrome |
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| Table of Contents, Volume 149A, Number 6, June 2009 |
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| American Journal of Medical Genetics Part A: Volume 149A, Number 6, June 2009 |
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| The AJMG SEQUENCE: Decoding news and trends for the medical genetics community |
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| Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization |
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| Changes in an inherited ring (22) due to meiotic recombination? Implications for genetic counseling |
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| Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: Phenocopy for Fryns syndrome or broad spectrum of teratogenic effects? |
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| Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review |
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| Impact of genetic advances and testing for hearing loss: Results from a national consumer survey |
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✓ |
✓ |
Culturally Deaf |
| Phenotypic and microscopic description of a new case of Ermine phenotype |
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| “Opitz C syndrome and pseudohypoaldosteronism” is caused by a chromosome 4q deletion |
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| Partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence: A third patient suggesting autosomal recessive inheritance |
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| A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies |
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| Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of <i>SOX9</i> |
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| A silent majority? |
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| Independent <i>NF1</i> and <i>PTPN11</i> mutations in a family with neurofibromatosis‐Noonan syndrome |
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| Analysis of congenital heart defects in 87 consecutive patients with Brachmann‐de Lange syndrome |
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✓ |
✓ |
Italian |
| When to tell and test for genetic carrier status: Perspectives of adolescents and young adults from fragile X families |
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| Significant phenotypic variability of Muenke syndrome in identical twins |
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| Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion of <i>SHH</i>, <i>TGIF</i>, <i>SIX3</i>, <i>GLI2</i>, <i>TP73L</i>, and <i>DHCR7</i> as candidate genes |
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| Further characterization of the new microdeletion syndrome of 16p11.2–p12.2 |
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| Novel mutations in<i>IRF6</i>in nonsyndromic cleft lip with or without cleft palate: When should<i>IRF6</i>mutational screening be done? |
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| Down syndrome and paternal age, a new analysis of case–control data collected in the 1960s |
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| A prospective, longitudinal study of the impact of <i>GJB2/GJB6</i> genetic testing on the beliefs and attitudes of parents of deaf and hard‐of‐hearing infants |
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| Detection of an interstitial 3q21.1‐q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia |
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| Aberrant <i>GRIA3</i> transcripts with multi‐exon duplications in a family with X‐linked mental retardation |
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| Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister–Hall syndrome |
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| Familial odontoid hypoplasia |
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| Intracranial gene delivery of LV‐NAGLU vector corrects neuropathology in murine MPS IIIB |
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| Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl |
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| van den Ende–Gupta syndrome: Evidence for genetic heterogeneity |
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| A de novo intra‐chromosomal tandem duplication at 22q13.1q13.31 including the Rubinstein–Taybi region but with no bipolar disorder |
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| Mosaicism in Marshall syndrome |
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| Zellweger syndrome caused by PEX13 deficiency: Report of two novel mutations |
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✓ |
✓ |
Arab |
| Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an <i>ANKH</i> mutation |
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| Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split‐foot malformation and hearing loss |
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| John Locke and a case of macrodactyly |
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| Thanatophoric dysplasia caused by double missense <i>FGFR3</i> mutations |
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| Phenotypic variability in trisomy 13 mosaicism: Two new patients and literature review |
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| Inv dup del(4)(:p13 → p16.3::p16.3 → qter) in a girl without typical manifestations of Wolf–Hirschhorn syndrome |
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| The Erlenmeyer flask bone deformity in the skeletal dysplasias |
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| Missed appointments in a genetics and birth defects clinic |
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| Victor A. McKusick, M.D.: A clinician's clinician |
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| Orofacial clefts in the National Birth Defects Prevention Study, 1997–2004 |
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| Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature |
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| The ring 14 syndrome: Clinical and molecular definition |
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| The Xp contiguous deletion syndrome and autism |
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| Autism spectrum disorder in fragile X syndrome: A longitudinal evaluation |
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| Further clinical delineation of Fine–Lubinsky syndrome |
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| A <i>CDKL5</i> mutated child with precocious puberty |
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| Bilateral lambdoid and sagittal synostosis (BLSS): A unique craniosynostosis syndrome or predictable craniofacial phenotype? |
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| Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array‐CGH |
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| Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child |
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| Evaluation of prenatal‐onset osteochondrodysplasias by ultrasonography: A persistent challenge 18 years later |
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| Are the oral‐facial‐digital syndromes ciliopathies? |
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| Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C‐terminus of the IDUA protein |
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| Array CGH ends diagnostic odyssey for infant with features of Williams and Alagille syndrome |
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| A novel Alu‐mediated Xq28 microdeletion ablates <i>TAZ</i> and partially deletes <i>DNL1L</i> in a patient with Barth syndrome |
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| 9q subtelomeric deletion syndrome with diaphragmatic hernia |
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| Table of Contents, Volume 149A, Number 5, May 2009 |
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| Incidence of the mucopolysaccharidoses in Taiwan, 1984–2004 |
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✓ |
✓ |
Asian population; Western populations; ethnic differences |
| Late‐onset Lennox–Gastaut syndrome in a patient with 15q11.2–q13.1 duplication |
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| Craniosynostosis in patients with Noonan syndrome caused by germline <i>KRAS</i> mutations |
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| Arena syndrome is caused by a missense mutation in <i>PLP1</i> |
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| Homozygous female Becker muscular dystrophy |
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| American Journal of Medical Genetics Part A: Volume 149A, Number 5, May 2009 |
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| The AJMG SEQUENCE: Decoding news and trends for the medical genetics community |
|
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| Morphological abnormalities in children with thyroidal congenital hypothyroidism |
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✓ |
✓ |
Dutch |
| Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: Report of 10 Brazilian male patients |
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| A child with terminal 14q deletion syndrome: Consideration of genotype–phenotype correlations |
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| Novel exon 1 mutations in <i>MECP2</i> implicate isoform MeCP2_e1 in classical Rett syndrome |
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| <i>FARP2</i>, <i>HDLBP</i> and <i>PASK</i> are downregulated in a patient with autism and 2q37.3 deletion syndrome |
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| Book review |
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| Mental retardation, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: A new entity or Hall–Riggs syndrome? |
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| Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter |
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| High resolution SNP based microarray mapping of mosaic supernumerary marker chromosomes 13 and 17: Delineating novel loci for apraxia |
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| Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (‐TTAGGG‐)n sequence: Description of the first patient |
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| aCGH detects partial tetrasomy of 12p in blood from Pallister–Killian syndrome cases without invasive skin biopsy |
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| Finding <i>twinkle</i> in the eyes of a 71‐year‐old lady: A case report and review of the genotypic and phenotypic spectrum of <i>TWINKLE</i>‐related dominant disease |
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| Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria‐polydactyly hydrocephalus syndromes |
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| Rationale and background as basis for a new classification of the ectodermal dysplasias |
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| Split hand‐foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion—evidence for further heterogeneity? |
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| Compound heterozygous ASPM mutations in Pakistani MCPH families |
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| Constitutional trisomy 8 and Behçet syndrome |
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| International Research Symposium on Ankyloblepharon‐Ectodermal Defects‐Cleft Lip/Palate (AEC) Syndrome |
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| Vertebral fusion in a patient with supernumerary‐der(22)t(11;22) syndrome |
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| Aortic root dilation in patients with 22q11.2 deletion syndrome |
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| Further case of Rubinstein–Taybi syndrome due to a deletion in EP300 |
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| A novel <i>SIX3</i> mutation segregates with holoprosencephaly in a large family |
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| Increased prevalence of cardiovascular defects among 56,709 California twin pairs |
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| Pure monosomy and pure trisomy of 13q21.2–31.1 consequent to a familial insertional translocation: Exclusion of <i>PCDH9</i> as the responsible gene for autosomal dominant auditory neuropathy (AUNA1) |
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| Differential PERP regulation by TP63 mutants provides insight into AEC pathogenesis |
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| <i>NR2F1</i> deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness |
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| Book review |
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| A duplication including GATA4 does not co‐segregate with congenital heart defects |
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| Pathogenic <i>FBN1</i> mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated majo |
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| Etiology of nonimmune hydrops fetalis: A systematic review |
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| American Journal of Medical Genetics Part A: Volume 149A, Number 4, April 2009 |
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| The AJMG SEQUENCE: Decoding news and trends for the medical genetics community |
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|
| Trisomy 13 in a 7‐year‐old girl with cerebellar tumor, eye abnormalities, and autistic features |
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|
| Table of Contents, Volume 149A, Number 4, April 2009 |
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| Does paternal exposure to Agent Orange cause birth defects? |
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| Intrauterine exposure to mycophenolate mofetil and multiple congenital anomalies in a newborn: Possible teratogenic effect |
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| Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty |
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| A diagnostic flow chart for non‐immune hydrops fetalis |
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| Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome |
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| Hermansky–Pudlak syndrome in two African‐American brothers |
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|
✓ |
✓ |
✓ |
Northern European; African‐American; Puerto Rican; Japanese; Israeli |
| Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan–McDermid syndrome) and atypical teratoid/rhabdoid tumor |
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| Obesity syndrome, MOMES caused by deletion–duplication (4q35.1 del and 5p14.3 dup) |
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| Homozygous structural rearrangement 16p13: A mechanism of tumorigenesis in sporadic renal angiomyolipoma? |
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| Multiple joint dislocations: An additional skeletal finding in Lowry–Wood syndrome? |
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| Davenport's Dream: 21st Century Reflections on Heredity and Eugenics by Jan A. Witkowski, John R. Inglis, editors. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York, 2008. 298 p. |
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| Postnatal testicular regression mircopenis and microcephaly: Conformation of a new syndrome? |
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| Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family |
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| Polyhydramnios, fetal overgrowth, and macrocephaly: Prenatal ultrasound findings of Costello syndrome |
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| A patient with Baller–Gerold syndrome and midline NK/T lymphoma |
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| A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family |
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✓ |
✓ |
Indigenous Australian |
| <i>RNF135</i>mutations are not present in patients with Sotos syndrome‐like features |
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| Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer–Setleis syndrome) |
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✓ |
✓ |
German family |
| Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3‐month‐old with severe pediatric gastroesophageal reflux |
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|
✓ |
✓ |
biracial |
| Somatic mosaicism for the <i>SALL1</i> mutation p.Ser371X in full‐blown Townes–Brocks syndrome with Duane anomaly |
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| The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron |
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| GAPO syndrome with the novel features of pulmonary hypertension, ankyloglossia, and prognathism |
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| The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues |
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| Epidemiology of acephalus/acardius monozygotic twins: New insights into an epigenetic causal hypothesis |
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| Xq13.2q21.1 duplication encompassing the <i>ATRX</i> gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax |
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| Interventions to improve patient education regarding multifactorial genetic conditions: A systematic review |
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| Fragile X screening: Attitudes of genetic health professionals |
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| A <i>ZRS</i> duplication causes syndactyly type IV with tibial hypoplasia |
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| Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: Two new reports of MOTA syndrome |
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| Isolated familial posterior earlobe indentations |
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| Gardner‐Silengo‐Wachtel or genito‐palato‐cadiac syndrome with associated autosomal aneuploidy |
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| Connexin mutations in Brazilian patients with skin disorders with or without hearing loss |
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| Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example |
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✓ |
✓ |
Saudi; inbred populations; highly inbred population; consanguinity; endogamy; founder effect |
| Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation |
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| Caloric restriction in Alström syndrome prevents hyperinsulinemia |
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| Mapping of partially overlapping de novo deletions across an autism susceptibility region (<i>AUTS5</i>) in two unrelated individuals affected by developmental delays with communication impairment |
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| Body fat excess and stimulated growth hormone levels in adult patients with Prader–Willi syndrome |
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| An intergenerational contraction of a fully penetrant Huntington disease allele to a reduced penetrance allele: Interpretation of results and significance for risk assessment and genetic counseling |
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| Prosaposin deficiency and saposin B deficiency (activator‐deficient metachromatic leukodystrophy): Report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mut |
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| LAPS syndrome and Myhre syndrome: Two disorders or one? |
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| The c.940G variant of the <i>Microcephalin</i> (<i>MCPH1</i>) gene is not associated with microcephaly or mental retardation |
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✓ |
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✓ |
✓ |
African‐American; racial differences; populations |
| Germinal mosaicism of <i>GATA3</i> in a family with HDR syndrome |
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| A patient with early onset Huntington disease and severe cerebellar atrophy |
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| A novel syndrome with psychiatric features and review of malformation syndromes with psychiatric disorders |
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| A novel mutation in the X‐linked cyclin‐dependent kinase‐like 5 (<i>CDKL5</i>) gene associated with a severe Rett phenotype |
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| Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS |
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| Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: A cross‐sectional cohort study |
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✓ |
✓ |
Dutch population |
| Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for <i>HMX2</i> and <i>HMX3</i> as candidate genes in hearing and vestibular function |
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| Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy |
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| An unusual presentation of Ehlers–Danlos syndrome vascular type with deep vein thrombosis: A case for multidisciplinary management |
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| 2q31.2q32.3 deletion syndrome: Report of an adult patient |
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| HDR syndrome: A novel “de novo” mutation in <i>GATA3</i> gene |
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| Laminopathies, other progeroid disorders, and aging: Common pathogenic themes and possible treatments |
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| Table of Contents, Volume 149A, Number 3, March 2009 |
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| American Journal of Medical Genetics Part A: Volume 149A, Number 3, March 2009 |
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| The AJMG SEQUENCE: Decoding news and trends for the medical genetics community |
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| Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies |
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| Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML) |
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| A patient with the Simpson–Golabi–Behmel syndrome displays a loss‐of‐function point mutation in <i>GPC3</i> that inhibits the attachment of this proteoglycan to the cell surface |
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| A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies |
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| Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature |
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| A novel splice site mutation in the <i>RDX</i> gene causes DFNB24 hearing loss in an Iranian family |
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| Neuropsychological attention deficits in tuberous sclerosis complex (TSC) |
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| Phenocopy of Wolf–Hirschhorn syndrome in a patient with duplication 12q13.3q14.1 |
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| Family risk and related education and counseling needs: Perceptions of adults with bipolar disorder and siblings of adults with bipolar disorder |
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| Male‐to‐male transmission of Costello syndrome: G12S <i>HRAS</i> germline mutation inherited from a father with somatic mosaicism |
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| A missense mutation, p.V132G, in the X‐linked spermine synthase gene (SMS) causes Snyder–Robinson syndrome |
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✓ |
✓ |
Mexican |
| A susceptibility locus on 1p32–1p34 for congenital macrostomia in a Chinese family and identification of a novel <i>PTCH2</i> mutation |
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| The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism |
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| A locus for ophthalmo‐acromelic syndrome mapped to 10p11.23 |
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✓ |
✓ |
Japanese, Lebanese |
| Pallister–Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p |
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| A complex<i>TFAP2A</i>allele is associated with branchio‐oculo‐facial syndrome and inner ear malformation in a deaf child |
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| Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U‐type exchange model |
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| Genetic assessment of breast cancer risk in primary care practice |
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| Generalized arterial calcification of infancy: Phenotypic spectrum among three siblings including one case without obvious arterial calcifications |
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| The co‐occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome |
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| A recurrent <i>EYA1</i> mutation causing alternative RNA splicing in branchio‐oto‐renal syndrome: Implications for molecular diagnostics and disease mechanism |
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| Cerebro‐oculo‐nasal syndrome: Report of a case with a severe phenotype |
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| GAPO syndrome associated with dilated cardiomyopathy: An unreported association |
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| The clinical spectrum of fetal Niemann–Pick type C |
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| Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities |
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| Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2 |
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| Aplasia of cochlear nerves and olfactory bulbs in association with <i>SOX10</i> mutation |
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| Surf: For those who care for dying children |
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| Is this the Coffin–Siris syndrome or the BOD syndrome? |
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| Pallister–Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p |
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| Encomium to accompany “Living History—Biography: An Undifferentiated Pediatrician” |
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| Cholinergic dysfunction in fragile X syndrome and potential intervention: A preliminary <sup>1</sup>H MRS study |
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| Hypogonadotrophic hypogonadism due to intrasellar hemangioblastoma in von Hippel–Lindau syndrome |
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| Atypical X‐chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy |
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| Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability |
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| Brachyolmia with amelogenesis imperfecta: Further evidence of a distinct entity |
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| Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: Report of a third family and review |
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✓ |
✓ |
Turkish |
| Array comparative genomic hybridization analysis of heritable Xp deletion |
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| Novel <i>UBE3A</i> mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions |
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| Juvenile macular dystrophy and forearm pronation‐supination restriction presenting with features of distal arthrogryposis type 5 |
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| Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients |
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| An undifferentiated pediatrician |
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| Two novel <i>STRA6</i> mutations in a patient with anophthalmia and diaphragmatic eventration |
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| Case report: Adult phenotype of Mulvihill–Smith syndrome |
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| Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association |
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| Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication |
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| A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population |
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✓ |
✓ |
Swedish; Swedish population; Sweden |
| Family letters are an effective way to inform relatives about inherited cardiac disease |
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| Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1 |
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| A premature infant with Costello syndrome due to a rare G13C <i>HRAS</i> mutation |
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| Is it Williams syndrome?<i>GTF2IRD1</i>implicated in visual–spatial construction and<i>GTF2I</i>in sociability revealed by high resolution arrays |
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| Hypogammaglobulinemia and Silver–Russell phenotype associated with partial trisomy 7q and partial monosomy 21q |
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| Erratum to “Partial Growth Hormone Deficiency and Changed Bone Quality and Mass in Type I Trichorhinophalangeal Syndrome” Am J Med Genet Part A 146A:1598–1604 |
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| Molecular cytogenetic characterization of a 4p15.1‐pter duplication and a 4q35.1‐qter deletion in a recombinant of chromosome 4 pericentric inversion |
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| Mesiodens, a new microform of holoprosencephaly? |
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| Further delineation of the critical region for the 9p‐duplication syndrome |
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| Familial 14.5 Mb interstitial deletion 13q21.1–13q21.33: Clinical and array‐CGH study of a benign phenotype in a three‐generation family |
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| A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22 |
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| Autosomal dominant inheritance of cardiac valves anomalies in two families: Extended spectrum of left‐ventricular outflow tract obstruction |
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| A novel <i>CDKL5</i> mutation in a 47,XXY boy with the early‐onset seizure variant of Rett syndrome |
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| CLOVE(S) syndrome: Expanding the acronym |
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| Assessing the understanding of biobank participants |
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| Interstitial deletion 2p11.2–p12: Report of a patient with mental retardation and review of the literature |
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| Audiological and vestibular findings in the Kabuki syndrome |
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| Mutation in the <i>COCH</i> gene is associated with superior semicircular canal dehiscence |
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| Further clinical delineation of the Börjeson–Forssman–Lehmann syndrome in patients with <i>PHF6</i> mutations |
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| Identification of sex chromosome mosaicism: Is analysis of 20 metaphase cells sufficient? |
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| Genetic polymorphisms in the thioredoxin 2 (<i>TXN2</i>) gene and risk for spina bifida |
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✓ |
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| Detection of 53 <i>FBN1</i> mutations (41 novel and 12 recurrent) and genotype–phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy |
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| Mutation analysis of the myocyte enhancer factor 2A gene (<i>MEF2A</i>) in patients with left ventricular hypertrophy/hypertrophic cardiomyopathy |
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| Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome? |
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✓ |
✓ |
inbred Arab family |
| Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2 |
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✓ |
✓ |
Omani |
| Cervical vertebrae, cranial base, and mandibular retrognathia in human triploid fetuses |
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| Elements of morphology: Standard terminology for the hands and feet |
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| Elements of morphology: Standard terminology for the periorbital region |
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| Elements of morphology: Standard terminology for the ear |
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| Elements of morphology: Standard terminology for the nose and philtrum |
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| Elements of morphology: Introduction |
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| Elements of morphology: Standard terminology for the lips, mouth, and oral region |
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| Editorial comment: Editor's foreword to a special issue “Elements of Morphology: Standard Terminology” |
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| Elements of morphology: Standard terminology for the head and face |
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| Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: The pitfalls of homozygosity mapping |
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| Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade |
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| Rett syndrome and long‐term disorder profile |
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| 15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q |
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| Somatic mosaicism in a patient with Lynch syndrome |
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| Response to “CLOVE(S) Syndrome: Expanding the Acronym” |
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| Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19 |
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| Cortisol levels in Prader–Willi syndrome support changes in routine care |
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| Paradoxical association of extensive nevus flammeus together with unilateral lower limb and breast hypoplasia |
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| A de novo <i>GJB2</i> (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma |
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| New evidence for the correlation of the p.G130V mutation in the <i>GJB2</i> gene and syndromic hearing loss with palmoplantar keratoderma |
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| Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D |
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| Cone‐rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: Report of a new case without nephronophtisis |
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