| Muenke syndrome with osteochondroma |
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| Am J Med Genet Part A 146A:644–648 Autosomal dominant gigantiform cementoma associated with bone fractures |
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| Crisponi syndrome: A new case with additional features and new mutation in <i>CRLF1</i> |
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| Somatic <i>TP53</i> mutation mosaicism in a patient with Li–Fraumeni syndrome |
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| Interstitial deletion of the short arm of chromosome 10 del(10)(p11.2p12.32) in a patient with congenital heart disease, minor dysmorphism, and mental retardation |
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| Unique mosaic X/Y translocation/insertion in infant 45,X male |
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| Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome? |
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| A novel 2.43 Mb deletion of 7q11.22–q11.23 |
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| Absence of apparent disease causing mutations in <i>COL5A3</i> in 13 patients with hypermobility Ehlers–Danlos syndrome |
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| Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 → pter and monosomy 3p26.3 → pter in seven members |
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| Predictive genetic testing for cardiovascular diseases: Impact on carrier children |
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| John H. Edwards, MD |
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| The presence of bicuspid aortic valve does not predict ventricular septal defect type |
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| Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype |
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| Clinical and molecular characterization of a patient with Langer–Giedion syndrome and mosaic del(8)(q22.3q24.13) |
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| Further delineation of spondylometaphyseal dysplasia with cone‐rod dystrophy |
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| Microarray‐based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus |
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| A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient |
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| The role of qualitative research in medical genetics: Listening to the voices of our patients |
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| The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome |
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| Novel mutation of <i>IL1RAPL1</i> gene in a nonspecific X‐linked mental retardation (MRX) family |
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| Identification of a <i>HOXD13</i> mutation in a VACTERL patient |
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| Skeletal dysplasia in ancient Egypt |
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| Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature |
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| A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects |
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| Familial twinning and fertility in Dutch mothers of twins |
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| Johanson–Blizzard syndrome caused by identical<i>UBR1</i>mutations in two unrelated girls, one with a cardiomyopathy |
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| Recurrence of Mowat–Wilson syndrome in siblings with a novel mutation in the <i>ZEB2</i> gene |
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| A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup‐to‐disc ratio and renal stones |
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| Slender bone dysplasia (gracile) |
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| Cognition and behavior in pre‐pubertal children with Prader–Willi syndrome and associations with sleep‐related breathing disorders |
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| Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report |
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| Community consultation and communication for a population‐based DNA biobank: The Marshfield clinic personalized medicine research project |
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| Hyperamylasemia/hyperlipasemia in a child with propionic acidemia |
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| Incontinentia pigmenti in a female conceived by in vitro fertilization |
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| Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage‐pool deficiency |
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| Molecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletion |
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| Distal 22q11.2 microduplication encompassing the <i>BCR</i> gene |
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| Encomium to accompany “Living History—Biography: From Boston to Halifax via Ann Arbor, Minneapolis, and Seattle”, …of faces and frogs—and vasculature—of overgrowth and bones |
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| Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24 |
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| Paternal somatic mosaicism of a <i>TGFBR2</i> mutation transmitting to an affected son with Loeys–Dietz syndrome |
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| Navajo microvillous inclusion disease is due to a mutation in<i>MYO5B</i> |
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✓ |
✓ |
Navajos; Japanese; Middle Eastern |
| Book review |
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| Setting a public health research agenda for Down syndrome: Summary of a meeting sponsored by the Centers for Disease Control and Prevention and the National Down Syndrome Society |
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| A novel mutation in the <i>Espin</i> gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family |
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✓ |
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Moroccan |
| Behavior of 10 patients with FG syndrome (Opitz–Kaveggia syndrome) and the p.R961W mutation in the <i>MED12</i> gene |
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| Multiple congenital skull fractures as a presentation of Ehlers–Danlos syndrome type VIIC |
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✓ |
✓ |
Ashkenazi Jews originating from Belarus |
| Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13) |
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| Corrigendum to “DNA Sequence Analysis of <i>GJB2</i>, Encoding Connexin 26: Observations From a Population of Hearing Impaired Cases and Variable Carrier Rates, Complex Genotypes, and Ethnic Stratific |
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✓ |
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Population; Ethnic Stratification of Alleles |
| Familial oculoauriculovertebral sequence with lymphoma in one sibling |
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| Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation |
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| Phenotypic consequences of a novel <i>SCO2</i> gene mutation |
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| Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation |
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| Mosaic ring chromosome 8: Clinical and array‐CGH findings in partial trisomy 8 |
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| Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams–Oliver syndrome |
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| Clinicopathological analysis of the homozygous p.W1327X <i>AGL</i> mutation in glycogen storage disease type 3 |
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| Association between cerebral shape and social use of language in Williams syndrome |
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| Molecular cytogenetic characterization of an 8p22–8p23.2 duplication derived from a maternal intrachromosomal insertion in a child with congenital heart malformation, delayed puberty, and learning dis |
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| Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: Report of a new patient |
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| Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype |
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| Triphalangeal thumbs with brachyectrodactyly: A sporadic case |
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| Ethical and policy lessons to be learned from a family with inherited bone marrow failure |
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| Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco |
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✓ |
✓ |
Navajo Indians; Morocco |
| Neuroimaging aspects of Aicardi syndrome |
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| Responsible patient advocacy: Perspectives from the Alpha‐1 Foundation |
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| First cryptic balanced reciprocal translocation mosaicism and familial transmission |
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| Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities |
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| Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5–11.1 Mb terminal deletion of 1p36 |
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| Prevalence of hereditary prosopagnosia (HPA) in Hong Kong Chinese population |
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✓ |
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✓ |
✓ |
ethnic Chinese; Hong Kong Chinese population |
| The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia |
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| A new hypothesis of OCA1B |
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| A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in <i>DTDST</i> |
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| Carnitine‐palmitoyltransferase 2 deficiency: Novel mutations and relevance of newborn screening |
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| Comment on prevalence of hereditary prosopagnosia (HPA) in Hong Kong Chinese population |
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| Heterozygous deletion at 14q22.1–q22.3 including the <i>BMP4</i> gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly |
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| Pigmented villonodular synovitis in a patient with Noonan syndrome and <i>SOS1</i> gene mutation |
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| Sib pair with previously unreported skeletal dysplasia |
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✓ |
✓ |
Lebanese |
| Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication |
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| A small and active ring x chromosome in a female with features of Kabuki syndrome |
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| A 5‐Mb microdeletion at 6q16.1‐q16.3 with <i>SIM</i> gene deletion and obesity |
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| Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical hetero |
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| Microcephaly, malformation of brain development and intracranial calcification in sibs: Pseudo‐TORCH or a new syndrome |
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| Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria |
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| Supernumerary marker chromosomes management in prenatal diagnosis |
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| Strong linkage disequilibrium for the frequent <i>GJB2</i> 35delG mutation in the Greek population |
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✓ |
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✓ |
✓ |
Greek population; Greek controls; ancient Greece |
| Molecular characterization of a patient with 3p deletion syndrome and a review of the literature |
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| Studies of γ‐aminobutyric acid type A receptor β3 (GABRB3) and glutamic acid decarboxylase 67 (GAD67) with oral clefts |
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| Crisponi syndrome in an Indian patient: A rare differential diagnosis for neonatal tetanus |
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| Tetra‐amelia and lung hypo/aplasia syndrome: New case report and review |
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| All in the family: Disclosure of “unwanted” information to an adolescent to benefit a relative |
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| Familial recurrence of <i>SOX2</i> anophthalmia syndrome: Phenotypically normal mother with two affected daughters |
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| Kapur–Toriello syndrome: Further delineation |
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✓ |
✓ |
Mexican patient |
| Robinow syndrome: Phenotypic variability in a family with a novel intragenic <i>ROR2</i> mutation |
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| Genotype–phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia |
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| Type II autosomal recessive cutis laxa: Report of another patient and molecular studies concerning three candidate genes |
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| Am J Med Genet Part A 146A:1101–1116 Development and validation of a measure of dysmorphology: Useful for autism subgroup classification |
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| Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the <i>EDAR</i> gene |
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| Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance Am J Med Genet Part A 143A:1287–1296 |
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| Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder |
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| Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of<i>SIX1</i>,<i>SIX6</i>, and<i>OTX2</i>resulting from a complex chromosomal rearrangement |
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| Hardikar syndrome: New features |
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| Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression |
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| Terminal osseous dysplasia and pigmentary defects in a Brazilian girl |
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| Laurin–Sandrow syndrome: Review and redefinition |
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| A cryptic unbalanced translocation resulting in del 13q and dup 15q |
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| Genotype–phenotype correlations in Rubinstein–Taybi syndrome |
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| <i>BMPR2</i> mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia |
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| High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenita |
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| Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients |
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| Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly |
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| Seizure frequency in adults with Wolf–Hirschhorn syndrome |
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| Clinical and molecular‐cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an ∼5 Mb deletion del(11)(q24.3) |
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| Antenatal and postnatal evidence of periventricular leukomalacia as a further indication of vascular disruption in Adams–Oliver syndrome |
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| Split hand foot malformation with whorl‐like pigmentary pattern: Phenotypic expression of somatic mosaicism for the <i>p63</i> mutation |
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| First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies |
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| Maternal exposure to statins and risk for birth defects: A case‐series approach |
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| Polymorphisms in the <i>CBS</i> gene and homocysteine, folate and vitamin B<sub>12</sub> levels: Association with polymorphisms in the <i>MTHFR</i> and <i>MTRR</i> genes in Brazilian children |
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| Evidence that <i>SIZN1</i> is a candidate X‐linked mental retardation gene |
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| High prevalence of orofacial clefts in Shanxi Province in northern China, 2003–2004 |
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| Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees |
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| Popcorn calcification in osteogenesis imperfecta: Incidence, progression, and molecular correlation |
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| Sex reversal from functional disomy of Xp: Prenatal and post‐mortem findings |
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| Linkage disequilibrium between <i>IRF6</i> variants and nonsyndromic cleft lip/palate in the Chilean population |
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| Sirenomelia and cyclopia cluster in Cali, Colombia |
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| Pure duplication 1q41‐qter: Further delineation of trisomy 1q syndromes |
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| Familial deletion 11q14.3–q22.1 without apparent phenotypic consequences: A haplosufficient 8.5 Mb region |
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| Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population |
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| Mutation analysis of <i>B3GALTL</i> in Peters Plus syndrome |
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| Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility |
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| Congenital vascular malformations: A series of five prenatally diagnosed cases |
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| Two new patients with Curry–Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog‐patched‐GLI pathway |
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| Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in<i>TP53</i>and neural tube defect risk in an Irish population |
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✓ |
✓ |
Irish population |
| Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): Report of six cases of a new syndrome/association |
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| Co‐occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf–Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a B |
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| Using second trimester ultrasound and maternal serum biomarker data to help detect congenital heart defects in pregnancies with positive triple‐marker screening results |
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| Short 9q interstitial deletion in a neonate with lethal non‐immune hydrops |
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| Perlman syndrome: Report, prenatal findings and review |
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| Fine mapping of breakpoints in two unrelated patients with rare overlapping interstitial deletions of 9q with mild dysmorphic features |
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| Scott sign: A clinical measure of ligamentous laxity in achondroplastic infants |
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| Syndromes and epistemology II: Is autism a polygenic disorder? |
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| Consumer contribution to the delivery of genetic health services |
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| Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel <i>MID1</i> mutation |
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| Hypothesis: Dysregulation of methylation of brain‐expressed genes on the X chromosome and autism spectrum disorders |
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| Book review |
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| Analysis of the Prader‐Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array |
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| Genetic susceptibilities in the association between maternal exposure to tobacco smoke and the risk of nonsyndromic oral cleft |
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| Predictive genetic testing of adolescents for Huntington disease: A question of autonomy and harm |
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| A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non‐pathogenic euchromatic variant |
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| Living with a child at risk for psychotic illness: The experience of parents coping with 22q11 deletion syndrome: An exploratory study |
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| Encomium to accompany “Of Mice and Children: Reminiscences of a Teratogeneticist” |
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| Application of metaphase HR‐CGH and targeted chromosomal microarray analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features |
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| Extended follow‐up of the Finnish cartilage‐hair hypoplasia cohort confirms high incidence of non‐Hodgkin lymphoma and basal cell carcinoma |
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✓ |
✓ |
Finnish |
| Reply to Richards: “Predictive Genetic Testing of Adolescents for Huntington Disease: A Question of Autonomy and Harm” |
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| Trisomy 1 in an early pregnancy failure |
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| The population‐based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US |
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| Choanal atresia associated with maternal hyperthyroidism treated with methimazole: A case–control study |
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| Compound heterozygous deletions of <i>PMP22</i> causing severe Charcot‐Marie‐Tooth disease of the Dejerine‐Sottas disease phenotype |
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| Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability |
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✓ |
✓ |
Hispanic origin |
| 10qter deletion: A new case |
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| Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype |
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| Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in <i>WFS1</i> |
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| Excess maternal transmission of markers in <i>TCOF1</i> among cleft palate case‐parent trios from three populations |
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| Vertical transmission of a mutation in exon 1 of the <i>WT1</i> gene: Lessons for genetic counseling |
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| Williams syndrome in a preterm infant with phenotype of Alagille syndrome |
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| Investigation of 4q‐deletion in two unrelated patients using array CGH |
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| Duplication of the Rubinstein–Taybi region on 16p13.3 is associated with a distinctive phenotype |
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| Novel <i>SCN1A</i> frameshift mutation with absence of truncated Na<sub>V</sub>1.1 protein in severe myoclonic epilepsy of infancy |
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| Muscle hemorrhage in a paraplegic adult with neurofibromatosis type 1 and an associated vasculopathy |
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| Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type? |
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| Autosomal dominant isolated question mark ear |
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| Deletion (1)(p32.2–p32.3) detected by array‐CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome? |
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| Synergistic interaction of the <i>OCA2</i> and <i>OCA3</i> genes in a family |
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| A c.1019A > G mutation in <i>FGFR2</i>, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia |
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| Feingold syndrome associated with two novel <i>MYCN</i> mutations in sporadic and familial cases including monozygotic twins |
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| Breakpoint localization using array‐CGH in three siblings with an unbalanced 4q;16q translocation and childhood apraxia of speech (CAS) |
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| Molecular study of 33 families with Fraser syndrome new data and mutation review |
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| Germline duplication of chromosomes 10p15.3 and Yp11.32 in a man with learning disability and early onset cutaneous malignant melanoma |
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| Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development |
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| Cohen syndrome resulting from a novel large intragenic <i>COH1</i> deletion segregating in an isolated Greek island population |
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✓ |
✓ |
isolated Greek island population |
| Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases |
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| Haplotype analysis at the FRAXA locus in an Indian population |
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| A new case of proximal monosomy 1p36, extending the phenotype |
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| A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like features |
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| Constitutional H19 hypermethylation in a patient with isolated cardiac tumor |
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| Book review |
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| Clinical variability in acro‐cardio‐facial‐syndrome |
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| Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder |
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| Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p |
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| Aging in people with specific genetic syndromes: Rett syndrome |
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| Mechanisms of imprinting of the Prader–Willi/Angelman region |
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| Limb‐mammary syndrome (LMS) associated with internal female genitalia dysgenesia: A new genotype/phenotype correlation? |
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| Be careful with familial unbalanced chromosome abnormalities! |
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| Additional <i>EFNB1</i> mutations in craniofrontonasal syndrome |
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| Matrix extracellular phosphoglycoprotein (MEPE) correlates with serum phosphorus prior to and during octreotide treatment and following excisional surgery in hypophosphatemic linear sebaceous nevus sy |
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| <i>SOX10</i> mutation in Waardenburg syndrome type II |
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| Clinical and genetic distinction of Schimke immuno‐osseous dysplasia and cartilage‐hair hypoplasia |
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| De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently “balanced” paracentric inversion of 14(q21q23) |
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| A case of Lelis syndrome with hystrix‐like ichthyosis |
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| Analytical and clinical validity of whole‐genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay |
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| An intronic mutation in <i>DKC1</i> in an infant with Høyeraal–Hreidarsson syndrome |
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| Subtelomeric 6p deletion: Clinical and array‐CGH characterization in two patients |
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| Molecular and clinical characterization of two patients with Prader–Willi syndrome and atypical deletions of proximal chromosome 15q |
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| Disruption of the <i>TCF4</i> gene in a girl with mental retardation but without the classical Pitt–Hopkins syndrome |
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| Mental health and quality of life after genetic testing for Huntington disease: A long‐term effect study in Germany |
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| Radiological evolution in IMAGe association: A case report |
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| Schilbach–Rott/blepharofacioskeletal syndrome in a Brazilian patient |
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| Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: A complex series of events |
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| Pierre Robin sequence associated with first trimester fetal tamoxifen exposure |
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| The <i>CASK</i> gene harbored in a deletion detected by array‐CGH as a potential candidate for a gene causative of X‐linked dominant mental retardation |
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| Genetic disorders associated with macrocephaly |
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| Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia |
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| Sacral appendage in a child with an <i>FGFR2</i> mutation: A report and review |
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| Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1 |
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✓ |
✓ |
Dutch family |
| Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG‐Ia |
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| Array‐CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2‐p31.1 deletion in a patient with features overlapping th |
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| Homozygous deletions of a copy number change detected by array CGH: A new cause for mental retardation? |
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| A report of a patient with interstitial deletion of 15q22: Further delineation of a new micro deletion syndrome |
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| Evaluation of prenatal‐onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis |
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| Living history‐biography: From Boston to Halifax via Ann Arbor, Minneapolis, and Seattle |
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| Genital anomalies in a patient with Treacher Collins syndrome |
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| Monozygotic twins discordant for Proteus syndrome |
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| Fear of health insurance loss among individuals at risk for Huntington disease |
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| Marshall–Smith syndrome and septo‐optic dysplasia: An unreported association |
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| Agenesis of the corpus callosum in California 1983–2003: A population‐based study |
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| An epidermal nevus syndrome with cerebral involvement caused by a mosaic <i>FGFR3</i> mutation |
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| Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype |
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| 15q13q14 deletions: Phenotypic characterization and molecular delineation by comparative genomic hybridization |
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| Of mice and children: Reminiscences of a teratogeneticist |
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| Co‐occurring conditions associated with <i>FMR1</i> gene variations: Findings from a national parent survey |
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| The balance of nature: Reflections on the physics and mathematics structure of the living world and the human genome |
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| Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of <i>GNAS</i>‐based heterotopic ossification |
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| Autosomal recessive acro‐fronto‐facio‐nasal dysostosis associated with genitourinary anomalies: A third case report |
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✓ |
✓ |
Tunisian |
| Prenatal cortical hyperostosis with <i>COL1A1</i> gene mutation |
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| Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring |
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| A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: Is this a candidate region for the syndrome? |
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| The common inversion of the Williams–Beuren syndrome region at 7q11.23 does not cause clinical symptoms |
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| Native American myopathy: Congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia |
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✓ |
✓ |
Native American; Indians; Lumbee population |
| Expanding the “E” in CHARGE |
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| A new osteogenesis imperfecta with improvement over time maps to 11q |
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| Humero‐radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs |
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| Donnai–Barrow syndrome (DBS/FOAR) in a child with a homozygous <i>LRP2</i> mutation due to complete chromosome 2 paternal isodisomy |
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| No mutation in RAS‐MAPK pathway genes in 30 patients with Kabuki syndrome |
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| Jose Maria Cantu (1938–2007) |
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| Terminal 3p deletions: Phenotypic variability, chromosomal non‐penetrance, or gene modification? |
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| Czech dysplasia: Report of a large family and further delineation of the phenotype |
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| Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome |
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| Filippi syndrome: Further clinical characterization |
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| Sensorineural deafness, distinctive facial features, and abnormal cranial bones: A new variant of Waardenburg syndrome? |
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| Congenital heart defects in patients with oculo‐auriculo‐vertebral spectrum (Goldenhar syndrome) |
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| Mycophenolate mofetil embryopathy may be dose and timing dependent |
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| Mosaic trisomy 20: Considerations for genetic counseling |
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| Nephrogenic diabetes insipidus in a patient with L1 syndrome: A new report of a contiguous gene deletion syndrome including <i>L1CAM</i> and <i>AVPR2</i> |
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| A multiplex family with possible metaphyseal Spahr‐type dysplasia and exclusion of <i>RMRP</i> and <i>COL10A1</i> as candidate genes |
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| Johanson–Blizzard syndrome: Report of a novel mutation and severe liver involvement |
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| Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: Delineation of clinical subtypes |
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| Relationship between public attitudes toward genomic studies related to medicine and their level of genomic literacy in Japan |
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| Multilayered patella: Similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia |
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| Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis? |
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| Long‐term follow‐up in Stuve–Wiedemann syndrome: A clinical report |
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| Beckwith‐Wiedemann syndrome in adults: Observations from one family and recommendations for care |
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| Decreased corneal opacity and improved vision in a patient with mucopolysaccharidosis I (Hurler–Scheie) treated with enzyme replacement therapy (laronidase, Aldurazyme®) |
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| Novel β‐galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts |
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| A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation |
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| Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases |
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| Rethinking isolated cleft palate: Evidence of occult lip defects in a subset of cases |
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| Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2 |
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| Delineation of the proximal 3q microdeletion syndrome |
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✓ |
✓ |
Hispanic |
| Preimplantation genetic diagnosis for complex chromosome rearrangements |
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| Kidney abnormalities in persons with monosomy 15q26 |
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| Misuse of the descriptor “Marfanoid” |
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| Complex toe syndactyly with characteristic facial phenotype: A new syndrome? |
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| A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis |
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| Candidate gene analysis in three families with acilia syndrome |
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| Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene |
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| 22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil |
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| Reply to Hunter's letter on the “misuse of the descriptor “Marfanoid”” |
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| A new look at XXYY syndrome: Medical and psychological features |
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| The role of steroid hormones in the NF1 phenotype: Focus on pregnancy |
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| Interstitial deletion of 1p22.2p31.1 and medium‐chain acyl‐CoA dehydrogenase deficiency in a patient with global developmental delay |
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| A novel mutation in <i>IRF6</i> resulting in VWS–PPS spectrum disorder with renal aplasia |
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| Further case of microdeletion of 8q24 with phenotype overlapping Langer–Giedion without <i>TRPS1</i> deletion |
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| Long‐term survival in a 69,XXX triploid premature infant |
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| Abnormal neuronal migration defect in the severe variant subtype of Adams–Oliver syndrome |
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| Extreme phenotypic diversity and nonpenetrance in families with the <i>LMNA</i> gene mutation R644C |
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| Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome |
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| Recurrent non‐immune hydrops fetalis with gracile bones and dysmorphic features in siblings |
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| Studies of genes in the <i>FGF</i> signaling pathway and oral clefts with or without dental anomalies |
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| Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene |
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| The art of coping with a craniofacial difference: Helping others through “Positive Exposure” |
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| Shwachman–Diamond syndrome is associated with structural brain alterations on MRI |
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| Book review |
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| Young–Simpson syndrome (YSS), a variant of del(1)(p36) syndrome? |
|
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| Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21–q22.1 |
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| Autosomal dominant spondylocarpotarsal synostosis syndrome: Phenotypic homogeneity and genetic heterogeneity |
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| Care of children with trisomy 18 in Japan |
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| Caudal dysgenesis, sirenomelia, and situs inversus totalis: A primitive defect in blastogenesis |
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| Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter ? A further locus for Cornelia de Lange syndrome |
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| GAPO syndrome: Three new Brazilian cases, additional osseous manifestations, and review of the literature |
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| Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype |
|
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|
✓ |
✓ |
Dutch |
| Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero‐posterior gradient pre‐ and post‐natally |
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| Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in <i>ERCC6</i> |
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|
✓ |
✓ |
Druze |
| Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13 |
|
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| The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome |
|
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|
✓ |
✓ |
Indian population; Spanish population |
| Is trisomy 14 mosaic a clinically recognizable syndrome?—Case report and review |
|
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| Clinical delineation of Giuffrè–Tsukahara syndrome: Another case with microcephaly and radio‐ulnar synostosis with apparent X‐linked semi‐dominant inheritance |
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| Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism |
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| Evidence suggesting the inheritance mode of the human <i>P</i> gene in skin complexion is not strictly recessive |
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| A selective clinical cytogenetic study in prenatal and pediatric pathology: A comparison with unselected studies |
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| Craniosynostosis in a patient with a de novo 15q15‐q22 deletion |
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| Discrepant DNA analysis in three patients with inherited arrhythmia: Molecular genetic test results deserve a second glance |
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| A genome wide linkage scan for cleft lip and palate and dental anomalies |
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| DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) syndrome in one of the twins after conception with intracytoplasmic sperm injection |
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| Compound effect of <i>PHOX2B</i> and <i>RET</i> gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease |
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| An unusual presentation of trisomy 13 |
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| Congenital disseminated neurofibromatosis type 1: A clinical and molecular case report |
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| Corrigendum |
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| Live birth prevalence of Down syndrome in Tottori, Japan, 1980–1999 |
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✓ |
✓ |
European (and a few Asian) countries |
| Atypical XX male with the <i>SRY</i> gene located at the long arm of chromosome 1 and a 1qter microdeletion |
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| Dominantly inherited lop ears |
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| Mosaic <i>FMR1</i> deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature |
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| Report of a black South African child with oculodentodigital dysplasia and a novel<i>GJA1</i>gene mutation |
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✓ |
|
black South African |
| Inactivation of the <i>CDKL3</i> gene at 5q31.1 by a balanced t(X;5) translocation associated with nonspecific mild mental retardation |
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| Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007 |
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| Predicted prevalence of Down syndrome live births in Japan, 1970–2006 |
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| Severe Marfan syndrome due to FBN1 exon deletions |
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| The clinical spectrum of homozygous <i>HOXA1</i> mutations |
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| Tracheomalacia in siblings with otopalatodigital syndrome |
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| Growth charts for patients affected with Morquio A disease |
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| Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome |
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| Partial Xp11.23–p11.4 duplication with random X inactivation: Clinical report and molecular cytogenetic characterization |
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| Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome |
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| 12q12 deletion: A new patient contributing to genotype–phenotype correlation |
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| Low‐level mosaicism of trisomy 14: Phenotypic and molecular characterization |
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| Intensive cardiac management in patients with trisomy 13 or trisomy 18 |
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| The arthrochalasia type of Ehlers–Danlos syndrome (EDS VIIA and VIIB): The diagnostic value of collagen fibril ultrastructure |
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| Compound heterozygosity for two <i>MSH6</i> mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus |
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| No major role for the <i>EMX2</i> gene in schizencephaly |
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| Schinzel–Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria |
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| Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits |
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| Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome |
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| Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature review |
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| Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion |
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| A prenatally ascertained X;Y translocation characterized using conventional and molecular cytogenetics |
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| A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27 |
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| Two new cases of pure 1q terminal deletion presenting with brain malformations |
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| Rare interstitial deletion 9q31.2 to q33.1 de novo: Longitudinal study in a patient over a period of more than 20 years |
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| Spondylocarpotarsal synostosis: Long‐term follow‐up of a case due to <i>FLNB</i> mutations |
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| Mitochondrial ND5 T12338C, tRNA<sup>Cys</sup> T5802C, and tRNA<sup>Thr</sup> G15927A variants may have a modifying role in the phenotypic manifestation of deafness‐associated 12S rRNA A1555G mutation |
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|
✓ |
✓ |
Han Chinese; Chinese |
| Disruption of chromodomain helicase DNA binding protein 2 (<i>CHD2</i>) causes scoliosis |
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| Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect |
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| Nutritional and genetic determinants of vitamin B and homocysteine metabolisms in neural tube defects: A multicenter case–control study |
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| The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders |
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| Sotos syndrome: Antenatal presentation |
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| Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: Clinical report and review |
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| Specific ultrasonographic features of perinatal lethal hypophosphatasia |
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| Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association |
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| Omphalocele and gastroschisis and associated malformations |
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| Development and validation of a measure of dysmorphology: Useful for autism subgroup classification |
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| Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function |
|
✓ |
|
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|
|
✓ |
✓ |
African American; Asian |
| The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18 |
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| Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge–Weber and Klippel–Trenaunay syndromes |
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|
|
✓ |
✓ |
"Asian", "African descent", "African", "Hispanic", "darker pigmented skin groups", "Asian, Hispanic |
| A novel splice site mutation in EYA4 causes DFNA10 hearing loss (Am J Med Genet 143(14): 1599–1604) |
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| Holt–Oram syndrome associated with anomalies of the feet |
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| Deletion of the first pair of fibronectin type III repeats of the integrin β‐4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome |
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| Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman |
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|
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| A novel nonsense mutation in <i>MYO6</i> is associated with progressive nonsyndromic hearing loss in a Danish <i>DFNA22</i> family |
|
✓ |
|
|
|
|
✓ |
✓ |
"Italian and American Caucasian extraction"; "Danish family"; "Pakistani families" |
| Delineation of the phenotype associated with 7q36.1q36.2 deletion: Long QT syndrome, renal hypoplasia and mental retardation |
|
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|
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| Trisomies 13 and 18: Population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994–2003 |
|
|
|
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|
|
✓ |
✓ |
non-Hispanic whites; non-Hispanic black race |
| Expanded clinical phenotype of women with the <i>FMR1</i> premutation |
|
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|
|
| Unique disease heritage of the Dutch‐German Mennonite population |
|
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|
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|
|
✓ |
✓ |
Dutch‐German Mennonite population |
| Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata |
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|
|
| Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome |
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|
|
| Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene |
|
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|
|
| Association of homozygous <i>LMNA</i> mutation R471C with new phenotype: Mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy |
|
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|
|
| A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV |
|
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|
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| Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature |
|
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|
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| Hardikar syndrome: Long term outcome of a rare genetic disorder |
|
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|
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| An undiagnosed cytogenetic abnormality results in the misidentification of a Duchenne muscular dystrophy carrier |
|
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|
|
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|
|
| Clinical genetics and the Hutterite population: A review of Mendelian disorders |
|
|
|
|
|
|
✓ |
✓ |
Hutterian Bretheren; Hutterite population; isolated population; North American prairies |
| A de novo <i>SOX10</i> mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease |
|
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|
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| A population‐based study of craniosynostosis in metropolitan Atlanta, 1989–2003 |
|
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|
|
| Sclerocornea associated with the chromosome 22q11.2 deletion syndrome |
|
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|
|
| Interstitial deletion of 13q associated with polymicrogyria |
|
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|
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|
|
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|
|
| Infrequency of two deletion mutations at the DFNB1 locus in patients and controls |
|
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|
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|
|
| In search of the psychosis gene in people with Prader‐Willi syndrome |
|
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|
|
|
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|
|
| Review of 64 cases of death in children with Prader–Willi syndrome (PWS) |
|
|
|
|
|
|
|
|
|
| The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients |
|
|
|
|
|
|
|
|
|
| Familial interstitial deletion of the short arm of chromosome 4 (p15.33–p16.3) characterized by molecular cytogenetic analysis |
|
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|
|
|
|
|
|
|
| Molecular and clinical description of a girl with a 46,X,t(Y;4)(q11.2;p16)/45,X,der(4)t(Y;4)(q11.2;p16) karyotype and a small cryptic 4p subtelomeric deletion |
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|
|
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|
|
| Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement |
|
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|
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|
|
| Clarification of previously reported Costello syndrome patients |
|
|
|
|
|
|
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|
|
| Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (<i>CRYAA</i>) |
|
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|
|
|
|
|
| Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman |
|
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|
|
| Genetic variation in the <i>HTR1A</i> gene and sudden infant death syndrome |
|
|
|
|
|
|
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|
|
| A double‐blind, parallel, multicenter comparison of <scp>L</scp>‐acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys |
|
|
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|
|
|
|
|
|
| A girl with fragile X premutation from sperm donation |
|
|
|
|
|
|
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|
|
| A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family |
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|
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| Further clinical description of duplication of Williams–Beuren region presenting with congenital glaucoma and brachycephaly |
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|
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| Child and genetic variables associated with maternal adaptation to fragile X syndrome: A multidimensional analysis |
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|
|
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|
|
| Inverted duplication with terminal deletion of 5p and no cat‐like cry |
|
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|
|
|
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|
|
| Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome? |
|
|
|
|
|
|
|
|
|
| Absence of <i>NOTCH2</i> and <i>Hey2</i> mutations in a familial Alagille syndrome case with a novel frameshift mutation in <i>JAG1</i> |
|
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|
|
|
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|
|
| Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs |
|
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|
|
|
|
|
|
| Cognitive and motor development during childhood in boys with Klinefelter syndrome |
|
|
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|
|
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|
|
| Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature |
|
|
|
|
|
|
|
|
|
| Dominantly‐inherited lop ears |
|
|
|
|
|
|
|
|
|
| Array comparative genomic hybridization (aCGH) analysis in Prader–Willi syndrome |
|
|
|
|
|
|
|
|
|
| Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region |
|
|
|
|
|
|
|
|
|
| Segmental hemangioma: The misuse of a term |
|
|
|
|
|
|
|
|
|
| Two new Brazilian patients with Gómez–López‐Hernández syndrome: Reviewing the expanded phenotype with molecular insights |
|
|
|
|
|
|
✓ |
✓ |
Brazilian |
| Second case of Beare–Stevenson syndrome with an <i>FGFR2</i> Ser372Cys mutation |
|
|
|
|
|
|
|
|
|
| Mutation screening in the<i>IRF6</i>‐gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal‐dominant inheritance |
|
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|
|
|
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|
|
| Applied genetics in health care. A handbook for specialist practitioners. Heather Skirton, Christine Patch, Janet Williams, editors. New York: Taylor and Francis Group, 2005. 274 p. |
|
|
|
|
|
|
|
|
|
| Costello syndrome associated with novel germline <i>HRAS</i> mutations: An attenuated phenotype? |
|
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|
|
|
|
|
|
|
| Autosomal dominant gigantiform cementoma associated with bone fractures |
|
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|
|
|
|
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|
|
| Cranial nerve manifestations in CHARGE syndrome |
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|
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|
|
| Oculocerebrocutaneous syndrome: An update |
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|
|
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|
|
|
| Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability |
|
|
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|
|
|
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|
|
| Pre‐ and postnatal overgrowth in a patient with proximal 4p deletion |
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|
|
|
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|
|
| Teenager with uterine didelphys, absent kidney and 22q11.2 deletion |
|
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|
|
|
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|
|
| The clinical atlas of Greig cephalopolysyndactyly syndrome |
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|
|
| Perrault syndrome: Report of four new cases, review and exclusion of candidate genes |
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|
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|
|
| Genotype–phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome |
|
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|
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|
|
| Clinical and radiographic delineation of odontochondrodysplasia |
|
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|
|
|
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|
|
| Health‐related quality of life of children with a positive carrier status for inherited cardiovascular diseases |
|
|
|
|
|
|
✓ |
✓ |
Dutch ("Dutch children") |
| A novel locus for idiopathic generalized epilepsy in French‐Canadian families maps to 10p11 |
|
|
|
|
|
|
✓ |
✓ |
French‐Canadian |
| Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array‐CGH |
|
|
|
|
|
|
|
|
|
| X‐linked congenital ataxia: A new locus maps to Xq25‐q27.1 |
|
|
|
|
|
|
|
|
Norwegian descent |
| 3q29 interstitial microduplication: A new syndrome in a three‐generation family |
|
|
|
|
|
|
|
|
|
| Novel mutations causing medium chain acyl‐CoA dehydrogenase deficiency: Under‐representation of the common c.985 A > G mutation in the New York state population |
|
|
|
|
|
|
|
|
|
| Follicle stimulating and leutinizing hormones, estradiol and testosterone in Prader–Willi syndrome |
|
|
|
|
|
|
|
|
|
| Segmental hemangioma: An important clinical term |
|
|
|
|
|
|
|
|
|
| Ramos‐Arroyo syndrome: Long‐term follow‐up of previously reported family |
|
|
|
|
|
|
|
|
|
| Genetic analysis of chromosome 11p13 and the <i>PAX6</i> gene in a series of 125 cases referred with aniridia |
|
|
|
|
|
|
|
|
|
| A quantitative assessment of tremor and ataxia in <i>FMR1</i> premutation carriers using CATSYS |
|
|
|
|
|
|
|
|
|
| Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: A newly recognized overgrowth syndrome? |
|
|
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|
|
|
|
|
|
| Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia |
|
|
|
|
|
|
|
|
|
| Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?—Report of two families |
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|
|
| Erratum |
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|
|
| Károly Méhes (1936–2007) |
|
|
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|
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|
|
| Developmental profiles in young children with Prader–Labhart–Willi syndrome: Effects of weight and therapy with growth hormone or coenzyme Q<sub>10</sub> |
|
|
|
|
|
|
|
|
|
| Polymorphic subtelomeric deletion 1q demonstrates the need to reevaluate subtelomere screening methods: Determination of the boundary between pathogenic deletion and benign variant for subtelomere 1q |
|
|
|
|
|
|
|
|
|
| Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father |
|
|
|
|
|
|
|
|
|
| Fine‐mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals |
|
|
|
|
|
|
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|
|
| Progressive cerebral vascular degeneration with mitochondrial encephalopathy |
|
|
|
|
|
|
|
|
|
| Reply to Bernard et al. “Re: Miles and Takahashi Paper on RhIg and Autism” |
|
|
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|
|
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|
|
| Hematological abnormalities during the first week of life among neonates with trisomy 18 and trisomy 13: Data from a multi‐hospital healthcare system |
|
|
|
|
|
|
|
|
|
| Characterization of a cryptic 3.3 Mb deletion in a patient with a “balanced t(15;22) translocation” using high density oligo array CGH and gene expression arrays |
|
|
|
|
|
|
|
|
|
| Rapidly progressive scoliosis after successful treatment for osteopenia in Costello syndrome |
|
|
|
|
|
|
|
|
|
| A second case of severe mental retardation and absent nails of hallux and pollex (Temple–Baraitser syndrome) |
|
|
|
|
|
|
|
|
|
| Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome |
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| The Italian National Survey for Prader–Willi syndrome: An epidemiologic study |
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| Novel mutations in <i>BBS5</i> highlight the importance of this gene in non‐Caucasian Bardet–Biedl syndrome patients |
✓ |
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| Electrocardiography in Noonan syndrome <i>PTPN11</i> gene mutation—phenotype characterization |
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| Empirical data about women's attitudes toward a biobank focused on pregnancy outcomes |
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| Genetics, altruism, and the National Children's Study |
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| The use by Alabama pediatricians of genetics consultation in the evaluation of developmental delay |
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| Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts |
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| Distal 3p deletion is not necessarily associated with dysmorphic features or psychomotor delay |
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| Pulmonary atresia with intact ventricular septum (PA‐IVS) in monozygotic twins |
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| De novo three‐way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia |
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| Pituitary hypoplasia and growth hormone deficiency in Coffin‐Siris syndrome |
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| “We Kept Our Promises”: An oral history of Harry Shwachman, M.D. |
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| Expanding the phenotype of mosaic trisomy 20 |
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| Chromosome deletions in 13q33–34: Report of four patients and review of the literature |
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| <i>DLX3</i> c.561_562delCT mutation causes attenuated phenotype of tricho‐dento‐osseous syndrome |
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| Severe neonatal non‐dystrophic myotonia secondary to a novel mutation of the voltage‐gated sodium channel (<i>SCN4A</i>) gene |
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| Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance |
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| Empirical data about women's attitudes towards a hypothetical pediatric biobank |
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✓ |
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| Trisomy 18 and hypertrophy cardiomyopathy in an 18‐year‐old woman |
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| A unique case of fibrodysplasia ossificans progressiva with an <i>ACVR1</i> mutation, G356D, other than the common mutation (R206H) |
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| Autistic and dysmorphic features associated with a submicroscopic 2q33.3–q34 interstitial deletion detected by array comparative genomic hybridization |
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| Carotid artery dissection in an adult with the Simpson–Golabi–Behmel syndrome |
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| Metaphyseal chondrodysplasia, upper limb mesomelia and normal height (mesomelic dysplasia camera type): Second report in a Mexican patient |
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| Fraser syndrome due to homozygosity for a splice site mutation of <i>FREM2</i> |
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| Placental hypoplasia in maternal uniparental disomy for chromosome 7 |
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| Yunis–Varon syndrome: Further delineation of the phenotype |
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| Denys–Drash syndrome and congenital diaphragmatic hernia: Another case with the 1097G > A(Arg366His) mutation |
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| A variable latent interval after exposure to gluten in persons developing celiac disease |
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| Molecular order in mucolipidosis II and III nomenclature |
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| Heritable essential tremor‐idiopathic normal pressure hydrocephalus (ETINPH) |
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| Fragile X syndrome with anxiety disorder and exceptional verbal intelligence |
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| Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia |
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| Hormonal and neuropsychological evaluation of two 47,XYY patients with pituitary abnormalities |
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| A novel mutation in <i>JARID1C/SMCX</i> in a patient with autism spectrum disorder (ASD) |
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| The hair collar sign |
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| Folate and one‐carbon metabolism gene polymorphisms and their associations with oral facial clefts |
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✓ |
✓ |
Norwegian population-based study |
| Adams–Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: Refining the features of a severe autosomal recessive variant |
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| Phacomatosis cesioflammea with unilateral lipohypoplasia |
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✓ |
✓ |
Mongolian spot |
| Exclusion of a <i>PAX6</i>, <i>FOXC1</i>, <i>PITX2</i>, and <i>MYCN</i> mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature |
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| Three‐dimensional morphometric analysis of craniofacial shape in the unaffected relatives of individuals with nonsyndromic orofacial clefts: A possible marker for genetic susceptibility |
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✓ |
✓ |
ethnicity |
| Clinical and radiologic findings in an adult male with dysosteosclerosis |
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| Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome |
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| Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function |
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✓ |
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✓ |
✓ |
African American; Asian |