| Interstitial deletion of 14q24.3‐q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects |
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| Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome? |
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| Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype |
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| Autosomal dominant inheritance of a heterozygous mutation in <i>SAMHD1</i> causing familial chilblain lupus |
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| <i>IGF1R</i> variants associated with isolated single suture craniosynostosis |
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| Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency an |
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| Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication |
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| 20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder |
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| Phenotypic analysis of Arg227 mutations of <i>TP63</i> with emphasis on dental phenotype and micturition difficulties in EEC syndrome |
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| Pregnancy as a proclamation of faith: Ultra‐Orthodox Jewish women navigating the uncertainty of pregnancy and prenatal diagnosis |
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| Angelman syndrome: Mutations influence features in early childhood |
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| A novel homozygous <i>COL11A2</i> deletion causes a C‐terminal protein truncation with incomplete mRNA decay in a Turkish patient |
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✓ |
✓ |
Turkish |
| Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome |
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| <i>ARX</i> polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia |
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| Monosomy 21q22.11‐q22.13 presenting as a Fanconi anemia phenotype |
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✓ |
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| Genotype–phenotype correlations of pheochromocytoma in two large von Hippel–Lindau (VHL) type 2A kindreds with different missense mutations |
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| Association of a p.Pro786Leu variant in <i>COL2A1</i> with mild spondyloepiphyseal dysplasia congenita in a three‐generation family |
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| Implications of prenatal diagnosis of the fetus with both interstitial deletion and a small marker ring originating from chromosome 5 |
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| Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis |
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| Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X‐inactivation analysis and imaging evaluations |
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| Genetic diseases in the Tunisian population |
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| Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece |
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| De Novo 21q22.1q22.2 deletion including <i>RUNX1</i> mimicking a congenital infection |
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| Arthrogryposis, perthes disease, and upward gaze palsy: A novel autosomal recessive syndromic form of arthrogryposis |
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| Interparietal bone (<i>Os Incae</i>) in craniosynostosis |
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| Identification of a novel <i>C16orf57</i> mutation in Athabaskan patients with Poikiloderma with Neutropenia |
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✓ |
✓ |
Athabaskan (Navajo and Apache) ancestry; Navajo descent; non‐Navajo; Athabaskan descent/subpopulatio |
| Cerebrovasculopathy in NF1 associated with ocular and scalp defects |
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| Al‐Awadi–Raas‐Rothschild (limb/pelvis/uterus–hypoplasia/aplasia) syndrome and <i>WNT7A</i> mutations: Genetic homogeneity and nosological delineation |
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| A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder |
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| The nosology of Richieri‐Costa/Guion‐Almeida syndrome(s) |
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| Richieri‐Costa–Pereira syndrome: A unique acrofacial dysostosis type. An overview of the Brazilian cases |
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| Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH |
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| 47, XY, +der(Y),t(X;Y)(p21.1;p11.2): A unique case of XY sex reversal |
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| Novel <i>L1CAM</i> splice site mutation in a young male with L1 syndrome |
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| Back to the future: Proceedings from the 2010 NF Conference |
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| Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions |
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| Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis—A new mental retardation syndrome? |
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| Book review of: The Troubled Dream of Genetic Medicine. By Keith Wailoo and Stephen Pemberton. The Johns Hopkins University Press, Baltimore, 2006. 249 p. |
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| Contractions in the second polyA tract of ARX are rare, non‐pathogenic polymorphisms |
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| <i>FMR1</i>, <i>FMR2</i>, and <i>SLITRK2</i> deletion inside a paracentric inversion involving bands Xq27.3–q28 in a male and his mother |
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| The incidence of thrombocytopenia in children with Cornelia de Lange syndrome |
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| Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype? |
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| Dandy–Walker malformation associated with heterozygous <i>ZIC1</i> and <i>ZIC4</i> deletion: Report of a new patient |
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| Response to Drs. Stöllberger and Finsterer “Noncompaction Is Already Known in DiGeorge Anomaly From 22q11.2 Deletion Syndrome” |
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| Hoffman syndrome: New patients, new insights |
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| Cranial neural crest cells on the move: Their roles in craniofacial development |
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| Clinical manifestations of the deletion of Down syndrome critical region including <i>DYRK1A</i> and <i>KCNJ6</i> |
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| A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia |
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| Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population |
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✓ |
✓ |
Irish; Ireland; Irish study population |
| Whole gene duplication of the <i>PQBP1</i> gene in syndrome resembling Renpenning |
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| The Simpson–Golabi–Behmel syndrome: A clinical case and a detective story |
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| The phenotype caused by <i>PYCR1</i> mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2 |
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| Poland anomaly and hydranencephaly: An unusual association |
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| Prenatal findings of paternal uniparental disomy 14: Delineation of further patient |
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| Retinoid signaling in inner ear development: A “Goldilocks” phenomenon |
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| Familial Ohtahara syndrome due to a novel <i>ARX</i> gene mutation |
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| Siblings with phenotypic overlap with Toriello–Carey syndrome and complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of the literature and additional evidenc |
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| Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10–17 |
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| Expanded Ashkenazi Jewish prenatal testing panel well received |
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| A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis |
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| Further delineation of the Van den Ende–Gupta syndrome |
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| The emergence of pharmacotherapies for cognitive function in Down syndrome |
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| Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints |
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| Neu–Laxova syndrome: A new patient with detailed antenatal and post‐natal findings |
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| Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion |
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| Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions |
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| Biobanking DNA |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 152A, Number 12, December 2010 |
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| Table of Contents, Volume 152A, Number 12, December 2010 |
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| IMAGe syndrome: Case report with a previously unreported feature and review of published literature |
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| “Omics” as the filtering gateway between environment and phenotype: The inflammatory bowel diseases example |
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| <i>UBE2A</i> deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients |
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✓ |
✓ |
Brazilian and Polish families |
| 2009 reviewer listing |
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| High carriers frequency of an apparently ancient founder mutation <i>p.Tyr322X</i> in the <i>ERCC8</i> gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel |
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✓ |
✓ |
Christian Arabs; Israeli Arab Christian; Christian Lebanese community; Arab Christian community |
| Craniofacial ciliopathies: A new classification for craniofacial disorders |
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| Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies |
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| Mosaic down syndrome in a patient with low‐level mosaicism detected by microarray |
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| Genital abnormalities in Pallister–Hall syndrome: Report of two patients and review of the literature |
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| Identification of a microdeletion at the 7q33‐q35 disrupting the <i>CNTNAP2</i> gene in a Brazilian stuttering case |
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| <i>HAX1</i> mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI |
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| Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3‐p26.1 |
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| Novel duplication in glypican‐4 as an apparent cause of Simpson–Golabi–Behmel syndrome |
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| Deletion of 7q34–q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features |
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| Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including <i>PTHLH</i> |
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| <i>IRF6</i>mutations in mixed isolated familial clefting |
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| Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2 |
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| Genetic basis of potential therapeutic strategies for craniosynostosis |
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| Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation |
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| Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet–Biedl syndrome |
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| New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the <i>DTDST</i> gene |
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| The financing of clinical genetics research by disease advocacy organizations: A review of funding disclosures in biomedical journals |
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| Genotype–phenotype correlation in <i>DTDST</i> dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family |
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✓ |
✓ |
Finnish |
| Brachydactyly type A1 with short humerus and associated skeletal features |
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| Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria |
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| Intragenic deletions of <i>IL1RAPL1</i>: Report of two cases and review of the literature |
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| Costello syndrome with severe cutis laxa and mosaic <i>HRAS</i> G12S mutation |
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| Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the <i>FBN1</i>‐gene |
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| Locus heterogeneity and Knobloch syndrome |
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| Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents |
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| HERV‐mediated genomic rearrangement of <i>EYA1</i> in an individual with branchio‐oto‐renal syndrome |
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| New guidelines for diagnosis of Marfan and Loey‐Dietz syndromes |
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| Pseudohypoparathyroidism type 1a and the <i>GNAS</i> p.R231H mutation: Somatic mosaicism in a mother with two affected sons |
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| Familial hydrocephalus with normal cognition and distinctive radiological features |
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| Cytogenetic and molecular evaluation and 20‐year follow‐up of a patient with ring chromosome 14 |
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| Homozygous loss of <i>CHRNA7</i> on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia |
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| The conundrum of a jumping translocation (JT) in CVS from twins and review of JTs |
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| First‐ever genetic link for Perrault syndrome established |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 152A, Number 11, November 2010 |
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| Microarray analysis of an unbalanced t(4;13) translocation narrows down the trisomy 13 associated polydactyly to a 7 Mb region |
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| Table of Contents, Volume 152A, Number 11, November 2010 |
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| MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking |
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| Genotype–phenotype correlation of two prevalent <i>GJB2</i> mutations in chinese newborn infants ascertained from the Universal Newborn Hearing Screening Program |
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✓ |
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Chinese |
| Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21) |
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| Clinical and hematologic findings in Noonan syndrome patients with <i>PTPN11</i> gene mutations |
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| Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome |
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✓ |
✓ |
Turkish |
| A novel mutation c.4003 G>C in the <i>CREBBP</i> gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features |
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| Natural history of Christianson syndrome |
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| The progeny of homozygous identical reciprocal translocation carrier mother |
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| Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the <i>GAN</i> gene |
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| X‐linked hereditary hemihypotrophy hemiparesis hemiathetosis |
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| Tibial developmental field defect in valproic acid embryopathy: Report on three cases |
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| Elsahy–Waters syndrome: Evidence for autosomal recessive inheritance |
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| Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly |
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| A novel homozygous Arg222Trp missense mutation in <i>WNT7A</i> in two sisters with severe Al‐Awadi/Raas‐Rothschild/Schinzel phocomelia syndrome |
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| Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft palate |
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| Elbow deformities in a patient with mandibuloacral dysplasia type A |
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| The importance of mentors in a 20‐year gestation |
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| Clues to an early diagnosis of Kallmann syndrome |
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| Discordance for Schimmelpenning–Feuerstein–Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation |
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| Co‐occurrence of early‐onset Parkinson disease and 22q11.2 deletion syndrome: Potential role for dopamine transporter imaging |
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| Absence of microcephalin gene mutations in a large cohort of non‐consanguineous patients with autosomal recessive primary microcephaly |
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| A novel X‐linked multiple congenital anomaly syndrome associated with an <i>EBP</i> mutation |
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| Fetal alcohol spectrum disorders: Extending the range of structural defects |
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✓ |
✓ |
Cape Colored |
| Candidate gene sequencing of <i>LHX2</i>, <i>HESX1</i>, and <i>SOX2</i> in a large schizencephaly cohort |
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| Association of microtia with maternal obesity and periconceptional folic acid use |
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| Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency |
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| Phenotype and natural history in Marshall–Smith syndrome |
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| Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association |
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| Cornelia de Lange Syndrome 4th Biennial Scientific and Educational Symposia abstracts |
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| Typical cMRI pattern as diagnostic clue for D‐bifunctional protein deficiency without apparent biochemical abnormalities in plasma |
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| Clinical characterization of a girl with trisomy 20q13.2qter and monosomy 13q33.1qter: Delineating phenotype–genotype correlations |
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| Geneticist to head NICHD |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 152A, Number 10, October 2010 |
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| New form of glycosylation disorder identified |
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| Table of Contents, Volume 152A, Number 10, October 2010 |
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| Mutation in <i>PQBP1</i> is associated with periventricular heterotopia |
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| Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: Case report and review |
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| Novel de novo <i>PCDH19</i> mutations in three unrelated females with epilepsy female restricted mental retardation syndrome |
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| Two sibs with Bardet–Biedl syndrome due to mutations in BBS12: No clues for modulation by a third mutation in BBS10 |
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| Maternal body mass index as a risk factor for craniosynostosis |
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| Balanced transmission of a paternal complex chromosomal rearrangement involving chromosomes 2, 3, and 18 |
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| Epigenetic profiling of the <i>H19</i> differentially methylated region and comprehensive whole genome array‐based analysis in Silver–Russell syndrome |
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| Shells and heart: Are human laterality and chirality of snails controlled by the same maternal genes? |
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| Mild phenotype in a patient with mosaic del(8p)/inv dup del(8p) |
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| Oral and dental abnormalities in Barber–Say syndrome |
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| Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features |
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| A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy |
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| Congenital diaphragmatic hernia and a complex heart defect in association with Wolf–Hirschhorn syndrome |
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| Novel <i>COL4A1</i> mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain |
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| Fibrocystic disease of liver and pancreas; under‐recognized features of the X‐linked ciliopathy oral‐facial‐digital syndrome type 1 (OFD I) |
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| Constitutional telomeric dysfunction in an azoospermic male with extensive telomeric association |
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| Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): Is prenatal diagnosis possible? |
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| Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2‐13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high‐density oligonucleotide array‐a r |
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| American Journal of Medical Genetics Part A: Volume 152A, Number 9, September 2010 |
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| Supernumerary impacted teeth in a patient with <i>SOX2</i> anophthalmia syndrome |
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| Chimerism resulting from parthenogenetic activation and dispermic fertilization |
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| Tetrasomy 18p: Report of the molecular and clinical findings of 43 individuals |
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| Table of Contents, Volume 152A, Number 9, September 2010 |
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| Long‐term parental psychological distress among parents of children with a malformation—A prospective longitudinal study |
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| In this issue |
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| Wiedemann–Steiner syndrome: Three further cases |
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| Understanding attitudes toward people with Down syndrome |
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| Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome |
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✓ |
✓ |
Japanese |
| Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases |
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| Megalencephaly, mega corpus callosum, and complete lack of motor development: Delineation of a rare syndrome |
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| Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin‐1 gene |
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| David W. Smith Workshop celebrates 30 years of discovery |
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| Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations |
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| Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome |
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| Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a <i>U2HR</i> mutation |
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✓ |
✓ |
Turkish |
| R75Q dominant mutation in <i>GJB2</i> gene silenced by the in cis recessive mutation c.35delG |
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| A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self‐healing congenital verruciform hyperkeratosis |
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| Tissue‐limited mosaicism for monosomy 13 |
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| Early onset mandibuloacral dysplasia due to compound heterozygous mutations in <i>ZMPSTE24</i> |
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| Folic acid flour fortification: Impact on the frequencies of 52 congenital anomaly types in three South American countries |
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| Examining the evidence for vascular pathogenesis of selected birth defects |
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| Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: Expansion of phenotype |
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| Craniosynostosis in pycnodysostosis: Broadening the spectrum of the cranial flat bone abnormalities |
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| Further characterization of microdeletion syndrome involving 2p15‐p16.1 |
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| Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease |
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| Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome |
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| Molecular characterization of a new patient with a non‐recurrent inv dup del 2q and review of the mechanisms for this rearrangement |
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| Introductory comments on special section—New developments in craniofacial biology: Putting on a happy face |
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| Mutations in the <i>G6PC3</i> gene cause Dursun syndrome |
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| The ancient Egyptian dwarfs of the Walters Art Museum |
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| Communication of biobanks' research results: What do (potential) participants want? |
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| Characterization of the chromosome 1q41q42.12 region, and the candidate gene <i>DISP1</i>, in patients with CDH |
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| Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia |
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✓ |
✓ |
El Salvadorian |
| Barber–Say syndrome in a father and daughter |
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| 11q14.1‐11q22.1 deletion in a 1‐year‐old male with minor dysmorphic features |
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| <i>IRF6</i> polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population |
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| Identification of novel <i>FMR1</i> variants by massively parallel sequencing in developmentally delayed males |
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| Somatic mosaicism in Menkes disease suggests choroid plexus‐mediated copper transport to the developing brain |
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| Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention |
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| A novel <i>EFNB1</i> mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia |
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| Caudal dysgenesis and sirenomelia‐single centre experience suggests common pathogenic basis |
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| Clericuzio‐type poikiloderma with neutropenia syndrome in three sibs with mutations in the <i>C16orf57</i> gene: Delineation of the phenotype |
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| Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation |
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| Response to “Valproic Acid and ADHD Symptoms in Fragile X Syndrome: More Evidence Is Needed” |
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| Valproic acid and ADHD symptoms in Fragile X syndrome: More evidence is needed |
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| Recurrence risk for offspring of twins discordant for oral cleft: A population‐based cohort study of the Danish 1936–2004 cleft twin cohort |
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| A de novo p.Asp18Asn mutation in <i>TREX1</i> in a patient with Aicardi–Goutières syndrome |
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| De novo <i>ACTA2</i> mutation causes a novel syndrome of multisystemic smooth muscle dysfunction |
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| Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization |
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| Copy number variation analysis in single‐suture craniosynostosis: Multiple rare variants including <i>RUNX2</i> duplication in two cousins with metopic craniosynostosis |
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| Identification of genomic loci contributing to agenesis of the corpus callosum |
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| Gene expression patterns in the bone tissue of women with fibrous dysplasia |
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| Microdeletion of 16p11.2 associated with endocardial fibroelastosis |
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| Regulation of facial morphogenesis by endothelin signaling: Insights from mice and fish |
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| Cerebellar hypoplasia and Cohen syndrome: A confirmed association |
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| A family with a 1.17 Mb deletion of 12q12: Refining genotype–phenotype correlation |
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| Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections |
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| Temple–Baraitser syndrome: A rare and possibly unrecognized condition |
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| Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints |
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| Ehlers–Danlos syndrome hypermobility type and the excess of affected females: Possible mechanisms and perspectives |
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| Analysis of component findings in 79 patients diagnosed with VACTERL association |
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| Inheritance and variable expression in Rubinstein–Taybi syndrome |
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| A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder |
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| Mosaic compound heterozygosity of SHOX resulting in Leri–Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks |
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| Congenital portosystemic shunt in a child with Wolf–Hirschhorn syndrome |
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| Atypical Silver–Russell phenotype resulting from maternal uniparental disomy of chromosome 7 |
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| Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature |
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| The mystery of Williams–Beuren syndrome associated with pulmonary dysfunction, sudden death, and Kounis syndrome |
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| Noonan syndrome associated with both a new Jnk‐activating familial <i>SOS1</i> and a de novo <i>RAF1</i> mutations |
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| Mental retardation, growth retardation, unusual nose, and open mouth: An autosomal recessive entity |
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| Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel <i>PTRF</i> mutations |
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✓ |
✓ |
Japanese, Mexican origin, Turkish origin |
| Description of the smallest critical region for Dandy–Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32) |
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| Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes |
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| A novel de novo microdeletion spanning the <i>SYNGAP1</i> gene on the short arm of chromosome 6 associated with mental retardation |
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| Transient QT interval prolongation in an infant with Simpson–Golabi–Behmel syndrome |
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| Progressive spastic paraplegia as a feature of tetrasomy 18p |
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| Cranio‐meta‐diaphyseal dysplasia: 25 year follow‐up and review of literature |
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✓ |
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| A prenatally recognizable malformation syndrome associated with a recurrent post‐zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21) |
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| Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism |
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| Multiple cranial nerve neuropathies, microcephaly, neurological degeneration, and “fork and bracket sign” in the MRI: A distinct syndrome |
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| Is there a better way to get consent for bloodspot use? |
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| American Journal of Medical Genetics Part A: Volume 152A, Number 8, August 2010 |
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| Creatine transporter deficiency in two half‐brothers |
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| SCID added to national newborn screening standards |
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| In this issue |
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| Table of Contents, Volume 152A, Number 8, August 2010 |
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| Restrictive dermopathy and <i>ZMPSTE24</i> mutations in Mennonites: Evidence for allelic heterogeneity |
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| Twins with omphalocele in Denmark (1970–1989) |
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| Giuffrè–Tsukahara syndrome: Evidence for X‐linked dominant inheritance and review |
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| Double‐blind therapeutic trial in Angelman syndrome using betaine and folic acid |
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| Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting |
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| Aortic dissection and moyamoya disease in Turner syndrome |
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✓ |
✓ |
Hispanic |
| Arterial rupture in classic Ehlers–Danlos syndrome with <i>COL5A1</i> mutation |
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| Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome |
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| Hedgehog signaling update |
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| Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in <i>SMC1A</i> |
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| Palmoplantar keratoderma, pseudo‐ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma‐congenital alopecia syndrome |
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| Late manifestations of tricho‐rhino‐pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood |
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| Additional clinical and molecular analyses of <i>TFAP2A</i> in patients with the Branchio‐Oculo‐Facial syndrome: Previously reported patient |
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| Carmi syndrome with congenital heart defects |
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| Living with Gaucher disease: Emotional health, psychosocial needs and concerns of individuals with Gaucher disease |
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| Parent‐of‐origin effects for <i>MSX1</i> in a Chilean population with nonsyndromic cleft lip/palate |
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| Femoral–facial syndrome: Prenatal diagnosis and clinical features. Report of three cases |
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| Co‐occurrence of Prader–Willi and Sotos syndromes |
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| Array‐CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum |
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| Response to restrictive dermopathy and <i>ZMPSTE24</i> mutations in Mennonites: Evidence for allelic heterogeneity |
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| Homozygous nonsense mutation in <i>WNT10B</i> and sporadic split‐hand/foot malformation (SHFM) with autosomal recessive inheritance |
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| <i>TBX2</i> gene duplication associated with complex heart defect and skeletal malformations |
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| Germline and somatic mosaicism for <i>FGFR2</i> mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age‐effect” syndromes |
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| Array‐CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation |
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| Trisomy 16q21 → qter: Seven‐year follow‐up of a girl with unusually long survival |
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| Pontocerebellar hypoplasia type 6: A British case with PEHO‐like features |
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|
✓ |
✓ |
Sephardic Jewish; British |
| The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations |
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| X chromosome monosomy restricted to the left ventricle is not a major cause of isolated hypoplastic left heart |
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| Discordant phenotype and sterol biochemistry in Smith–Lemli–Opitz syndrome |
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| New report of a familial case of Moebius syndrome presenting skeletal findings |
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| Book review |
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| A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (<i>AUTS2</i>) gene in a patient with autism |
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| Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions |
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| Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication |
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| Partial monosomy 8p/trisomy 8q in a newborn infant due to a maternal three‐way translocation: Clinical and cytogenetic comparison with San Luis Valley syndrome |
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| Familial syndrome resembling Aarskog syndrome |
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| Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis |
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| The face of Noonan syndrome: Does phenotype predict genotype |
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| Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14 |
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| NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1 |
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| Somatic mosaicism for a <i>CDKL5</i> mutation as an epileptic encephalopathy in males |
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| Partial hexasomy for the Prader–Willi–Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome |
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| New lethal skeletal dysplasia with Dandy–Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies |
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| Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? |
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| Amish microcephaly: Long‐term survival and biochemical characterization |
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✓ |
✓ |
Amish; Pennsylvania Amish community; Amish ancestors |
| Two patients with Rubinstein–Taybi syndrome and severe pulmonary interstitial involvement |
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| Book review |
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| Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico‐pathological studies |
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| A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect |
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| Ruvalcaba syndrome revisited |
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| Károly Méhes: Pioneer in the study of minor anomalies. A good and creative friend remembered |
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| Steinfeld syndrome: Further delineation |
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| A new familial insertion, ins(18;9)(q12.2;q33.1q31.1) with a 9q31.1–9q33.1 deletion in a girl with a cleft lip and palate |
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| A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification |
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| Sirenomelia and VACTERL association in the offspring of a woman with diabetes |
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| Mixed gonadal dysgenesis in a child with isodicentric y chromosome: Does the relative proportion of the 45,X line really matter? |
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| Rubinstein–Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the <i>CREBBP</i> gene |
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| Metopic craniosynostosis due to mutations in<i>GLI3</i>: A novel association |
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| After Havasupai litigation, Native Americans wary of genetic research |
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| American Journal of Medical Genetics Part A: Volume 152A, Number 7, July 2010 |
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| Perturbation of the consensus activation site of endothelin‐3 leads to Waardenburg syndrome type IV |
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| Corrigendum to Obesity Syndrome, MOMES Caused by Deletion–Duplication (4q35.1 del and 5p14.3 Duplication) AJMG Part A, 2009; 149(4): 833–834 |
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| Pheochromocytoma in a 2.75‐year‐old‐girl with a germline von Hippel–Lindau mutation Q164R |
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| Book review |
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| Vici syndrome associated with unilateral lung hypoplasia and myopathy |
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| A user's guide to the elements of standard morphologic terminology: Analysis and database |
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| Hemifacial myohyperplasia sequence |
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| New palpebral fissure measurements |
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| The right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm |
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| Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting <i>UTRN</i> in a patient with arthrogryposis |
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| Interstitial duplication in the proximal long arm of chromosome 16 |
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| Cohesin biology and the cohesinopathies: Abstracts from the Second Biennial Conference, Pontignano, Italy, 2009 |
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| Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey |
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| Wormian bones in osteogenesis imperfecta: Correlation to clinical findings and genotype |
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| Fragile X leads to X chromosome loss: Comments from a cytogeneticist |
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| Reply to Duncan: Fragile X leads to X chromosome loss: Comments from a cytogeneticist |
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| Paternal isodisomy of chromosome 2 as a cause of long chain 3‐hydroxyacyl‐CoA dehydrogenase (LCHAD) deficiency |
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| Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism |
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| Autosomal dominant prelingual hearing loss with Palmoplantar Keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the <i>GJB2</i> gene |
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| Holoprosencephaly and holoprosencephaly‐like phenotype and <i>GAS1</i> DNA sequence changes: Report of four Brazilian patients |
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| Petty syndrome and Fontaine–Farriaux syndrome: Delineation of a single syndrome |
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| Terminal osseous dysplasia with pigmentary defects (TODPD): Follow‐up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region |
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| Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson–McMillin syndrome? |
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| Epidemiology of congenital idiopathic talipes equinovarus in Iowa, 1997–2005 |
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| Follow‐up association studies of chromosome region 9q and nonsyndromic cleft lip/palate |
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| Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1 |
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| Seize the day: Newborn screening for SMA |
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| Maternal uniparental heterodisomy of chromosome 6 in a boy with an isolated cleft lip and palate |
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| Too much? Not enough? |
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| In this issue |
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| Table of Contents, Volume 152A, Number 7, July 2010 |
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| Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A<sub>2</sub> and prostacyclin |
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| De novo interstitial duplication of the 15q11.2‐q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature |
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| Holoprosencephaly and genitourinary anomalies in fetal methotrexate syndrome |
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| How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research |
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| Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH |
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| A de novo duplication of Xp11.22–p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome |
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| Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome |
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| Delineation of the breakpoints of pure duplication 3q due to a de novo duplication event using SOMA |
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| Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome |
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| Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients |
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| Erratum to “Longitudinal Observation of a Patient With Rieger Syndrome and Interstitial Deletion 4 (q25–q31.1)” [Am J Med Genet Part A 152A:977–981] |
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| SCID suggested for uniform newborn screening panel |
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| Who should get SMA carrier screening? |
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| Court's invalidation of gene patents a boon for care |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 152A, Number 6, June 2010 |
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| Table of Contents, Volume 152A, Number 6, June 2010 |
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| Chromosome 11p15 duplication in Silver‐Russell syndrome due to a maternally inherited translocation t(11;15) |
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| A t(5;16)(p15.32;q23.3) generating 16q23.3 → qter duplication and 5p15.32 → pter deletion in two siblings with mental retardation, dysmorphic features, and speech delay |
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| Co‐occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy |
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| Identification of a homozygous deletion mutation in <i>C16orf57</i> in a family with Clericuzio‐type poikiloderma with neutropenia |
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| Lumbocostovertebral syndrome in an infant of a diabetic mother |
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| A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related manifestations |
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| MECP2 duplication in a patient with congenital central hypoventilation |
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| Chediak–Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1 |
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| Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy |
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| The blemmy: A medieval grotesque inspired by iniencephaly? |
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| Subtelomeric deletion of 12p: Description of a third case and review |
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| Array CGH in molecular diagnosis of mental retardation—A study of 150 Finnish patients |
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✓ |
✓ |
Finnish |
| Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus |
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| Isolated unilateral vestibular schwannomas do not harbor<i>HRAS</i>mutations |
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| Deletions of Xp provide evidence for the role of holocytochrome C‐type synthase (<i>HCCS</i>) in congenital diaphragmatic hernia |
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| The course of cognitive‐behavioral development in children with the <i>FMR1</i> mutation, Williams–Beuren syndrome, and neurofibromatosis type 1: The effect of gender |
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| Duplication 16p11.2 in a child with infantile seizure disorder |
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| Invited Comment regarding “Pilot Assessment of a Radiological Classification for Segmentation Defects of the Vertebrae” by Offiah et al. |
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| Multiple malignant diseases in a patient with Rothmund–Thomson syndrome with <i>RECQL4</i> mutations: Case report and literature review |
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| <i>CDKN1C</i> (<i>p57</i><sup><i>Kip2</i></sup>) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms |
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| Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys |
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| A physician survey regarding diagnostic variability among birth defects |
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| Newborn and carrier screening for spinal muscular atrophy |
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| Phenotype–genotype correlation of a patient with a “balanced” translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion |
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| Paraganglioma, neuroblastoma, and a <i>SDHB</i> mutation: Resolution of a 30‐year‐old mystery |
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| Genetic health professionals and the communication of genetic information in families: Practice during and after a genetic consultation |
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| Central flaring of eyebrow |
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| Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit |
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| Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis |
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| Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome |
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| Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous <i>NOG</i> mutation |
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| Update on “Two Siblings With Alternate Unbalanced Recombinants Derived From a Large Cryptic Maternal Pericentric Inversion of Chromosome 20” |
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| Kabuki syndrome and cancer in two patients |
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| Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by <i>TRPV4</i> mutations |
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| A case of Down syndrome with mirror‐image duplication of chromosome 21 |
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| Clinical outcomes of preimplantation genetic diagnosis (PGD) and analysis of meiotic segregation modes in reciprocal translocation carriers |
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| The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field |
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| Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi‐exon deletion |
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| Response to central flaring of eyebrow by Mohrenschlager et al. |
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| Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia |
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| Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of <i>DLL3</i>, <i>MESP2</i>, <i>HES7</i>, and <i>LFNG</i> |
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✓ |
✓ |
Macedonian |
| Chromosome abnormalities investigated by non‐invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes |
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| Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae |
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| Lrp4: A novel modulator of extracellular signaling in craniofacial organogenesis |
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| A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population |
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✓ |
✓ |
Hutterites; Anabaptist group |
| High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated with <i>HRAS</i> mutations as the likely cause of structural brain and spinal cord abno |
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| In this issue |
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| Cytogenetic and array‐CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers–Danlos syndrome |
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| A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the <i>TRPM1</i>, <i>CHRNA7</i>, and other homozygously deleted genes |
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| Quality of life in rare genetic conditions: A systematic review of the literature |
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| Erratum to: An Interstitial 15q11–q14 Deletion: Expanded Prader–Willi Syndrome Phenotype (DOI 10.1002/ajmg.a.33197; Am J Med Genet Part A 152A:404–408) |
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| Communication with parents counts |
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| American Journal of Medical Genetics Part A: Volume 152A, Number 5, May 2010 |
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| Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion |
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| Table of Contents, Volume 152A, Number 5, May 2010 |
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| Consent for genetic research in the Framingham Heart Study |
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| Dominant <i>TRPV4</i> mutations in nonlethal and lethal metatropic dysplasia |
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| Callosal agenesis and left ventricular hypertrabeculation/noncompaction |
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| Linking <i>MECP2</i> and pain sensitivity: The example of Rett syndrome |
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| Polygenic inheritance of adolescent idiopathic scoliosis: A study of extended families in Utah |
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| Immunohistochemistry in non‐immune hydrops fetalis: A single center experience in 79 fetuses |
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| Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies |
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| A homozygous deletion of 8q24.3 including the <i>NIBP</i> gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features |
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| Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy |
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| Hereditary multiple exostoses with spine involvement in a 4‐year‐old boy |
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✓ |
✓ |
Mexican‐American |
| <i>FMR1</i> gene expansion, large deletion of Xp, and skewed X‐inactivation in a girl with mental retardation and autism |
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| Hereditary multiple exostoses with spine involvement in a 4‐year‐old boy |
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| Cornelia de Lange syndrome: Extending the physical and psychological phenotype |
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| Left ventricular non‐compaction on MRI in a patient with 22q11.2 distal deletion |
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| Premature ovarian failure, absence of pubic and axillary hair with de novo 46,X,t(X;15)(q24;q26.3) |
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| Haploinsufficiencies of <i>FOXF1</i> and <i>FOXC2</i> genes associated with lethal alveolar capillary dysplasia and congenital heart disease |
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| 17p13.1 microdeletion involving the <i>TP53</i> gene in a boy presenting with mental retardation but no tumor |
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| An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld–Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism |
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| Family communication about genetic risk information: Particular issues for Duchenne muscular dystrophy |
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| Molecular and clinical characterization of patients with overlapping 10p deletions |
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| Genotype–phenotype correlation in eight new patients with a deletion encompassing 2q31.1 |
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| Wolf–Hirschhorn syndrome with improvement of renal function |
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| A t(7;12) balanced translocation with breakpoints overlapping those of the Williams–Beuren and 12q14 microdeletion syndromes |
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| De novo deletion of 1q24.3‐q31.2 in a patient with severe growth retardation |
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| Further evidence for the possible role of <i>MEIS2</i> in the development of cleft palate and cardiac septum |
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| Mutation of <i>CANT1</i> causes Desbuquois dysplasia |
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| The <i>MECP2</i> duplication syndrome |
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| Challenges in clinical interpretation of microduplications detected by array CGH analysis |
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| Genomic and clinical characteristics of microduplications in chromosome 17 |
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| Common recurrent microduplication syndromes: Diagnosis and management in clinical practice |
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| Introductory comments on special section—Genomic microduplications: When adding may equal subtracting |
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| Interstitial microdeletion of 4p16.3: Contribution of <i>WHSC1</i> haploinsufficiency to the pathogenesis of developmental delay in Wolf–Hirschhorn syndrome |
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| 3p deletion and (skewed) literature review |
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| Microdeletion of the Down syndrome critical region at 21q22 |
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| Rubinstein–Taybi syndrome in first cousins with different de novo mutations |
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| The phenotype of Floating–Harbor syndrome in 10 patients |
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| Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1) |
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| Commentary: The second step in syndrome delineation: Who belongs and who does not? Thoughts generated by the paper on Floating–Harbor syndrome by White and colleagues |
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| <i>RAB23</i> mutation in a large family from Comoros Islands with Carpenter syndrome |
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✓ |
✓ |
Comorian origin; from Comoros Islands |
| Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype–genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome |
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| A maternally inherited chromosome 18q22.1 deletion in a male with late‐presenting diaphragmatic hernia and microphthalmia–evaluation of <i>DSEL</i> as a candidate gene for the diaphragmatic defect |
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| SACGHS mulls recommendations for genetics training |
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| Table of Contents, Volume 152A, Number 4, April 2010 |
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| Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy |
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| Periventricular nodular heterotopia and distal limb deficiency: A recurrent association |
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| A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign |
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| New test could make carrier screening more accessible |
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| Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss |
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| A second patient with Tsukahara syndrome: Type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis |
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| Additional clinical and molecular analyses of <i>TFAP2A</i> in patients with the branchio‐oculo‐facial syndrome |
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| A tandem duplication of chromosome 21 in a newborn showing a phenotype inconsistent with Down syndrome |
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| Clinical variability of familial tumoral calcinosis caused by novel <i>GALNT3</i> mutations |
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| A tale of two deletions: A report of two novel 20p13 → pter deletions |
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| Molecular and functional analysis of a novel MEK2 mutation in cardio‐facio‐cutaneous syndrome: Transmission through four generations |
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| Mutations and variants in the cohesion factor genes <i>NIPBL</i>, <i>SMC1A</i>, and <i>SMC3</i> in a cohort of 30 unrelated patients with Cornelia de Lange syndrome |
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| Fetal intracranial calcification: Pseudo‐TORCH phenotype and discussion of related phenotypes |
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| Familial Aicardi–Goutières syndrome due to <i>SAMHD1</i> mutations is associated with chronic arthropathy and contractures |
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| New subtype of familial intracranial calcification in a mother and two children |
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✓ |
✓ |
consanguineous Arab Qatari family |
| In this issue |
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| American Journal of Medical Genetics Part A: Volume 152A, Number 4, April 2010 |
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| <i>PAX2</i> mutations in fetal renal hypodysplasia |
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| Reply to 3p deletion and (skewed) literature review |
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| Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption |
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| Development of a culturally tailored genetic counseling booklet about hereditary breast and ovarian cancer for Black women |
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| Identification of susceptibility loci for scoliosis in FIS families with triple curves |
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| A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting <i>Dystrophin</i> |
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| Lipedema: An inherited condition |
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| Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings |
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| Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3 |
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| 18q22.3 → 18q23 deletion syndrome and cleft palate |
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| Clinical and molecular characterization of overlapping interstitial Xp21‐p22 duplications in two unrelated individuals |
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| A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases |
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| Germline TGF‐β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome |
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| Single nucleotide polymorphism associated with nonsyndromic cleft palate influences the processing of miR‐140 |
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| Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): Expanding the vascular phenotype |
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| The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia |
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| Ultrasound diagnosis of severe mesomelic dysplasia in two fetuses, associated with increased neck translucency and tetralogy of Fallot in one and cystic hygroma in the other |
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| Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement |
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| Further delineation of the Kapur–Toriello syndrome |
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| Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including <i>ITGB6</i> |
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| Insertional translocation detected using FISH confirmation of array‐comparative genomic hybridization (aCGH) results |
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| Reply to Dr. Finsterer “Callosal Agenesis and Left Ventricular Hypertrabeculation/Noncompaction” |
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| Monozygotic twins discordant for phacomatosis pigmentovascularis: Evidence for the concept of twin spotting |
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| Isolated congenital amastia: A subclavian artery supply disruption sequence? |
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| Mutational analysis of two boys with the severe perinatally lethal Melnick–Needles syndrome |
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| The importance of the family history in caring for families with long QT syndrome and dilated cardiomyopathy |
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| Is a proper name the proper name? A survey on attitude of clinical geneticists towards eponyms in Italy |
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| In this issue |
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| Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN‐γ receptor 1 deficiency |
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| Recurrent deletion of <i>ZNF630</i> at Xp11.23 is not associated with mental retardation |
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| Sonic hedgehog mutation analysis in patients with VACTERL association |
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| Survival of children with mosaic Down syndrome |
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| miRNA mutations are not a common cause of deafness |
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| Pulmonary function and emphysema in Williams–Beuren syndrome |
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| Massive cranial osteolysis, skin changes, growth retardation and developmental delay: Gorham syndrome with systemic manifestations? |
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| Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas |
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| Intellectual disability, midface hypoplasia, facial hypotonia, and alport syndrome are associated with a deletion in Xq22.3 |
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| Prenatal findings of paternal uniparental disomy 14: Report of four patients |
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| VACTERL association in a cat |
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| De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasia (Am J Med Genet Part A 149A:2554–2556) |
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| Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: Cardiofaciocutaneous syndrome and Noonan syndrome |
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| Mosaic deletion 11p13 in a child with dopamine beta‐hydroxylase deficiency—Case report and review of the literature |
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| Monozygotic twins discordant for neurofibromatosis 1 |
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| c. 595‐596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient |
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| Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)—A distinct syndrome? |
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| Population screening beyond newborns |
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| Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy |
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| Magnetic resonance imaging of a unique mutation in a family with Pelizaeus–Merzbacher disease |
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| A rare case of trisomy 15pter‐q21.2 due to a de novo marker chromosome |
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| Multiple genomic imbalances detected in a single family by array comparative genomic hybridization: Novel complexities for the clinician |
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| Cold‐induced sweating syndrome with neonatal features of Crisponi syndrome: Longitudinal observation of a patient homozygous for a <i>CRLF1</i> mutation |
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✓ |
✓ |
Japanese |
| Novel <i>ANKH</i> mutation in a patient with sporadic craniometaphyseal dysplasia |
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| Histology and synchrotron radiation‐based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome |
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| Molecular and phenotypic aspects of <i>CHD7</i> mutation in CHARGE syndrome |
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| American Journal of Medical Genetics Part A: Volume 152A, Number 3, March 2010 |
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| Table of Contents, Volume 152A, Number 3, March 2010 |
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| Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith–Magenis syndrome) |
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| Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (<i>FTO</i>): Fine mapping and <i>FTO</i> gene expression study |
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| Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 → qter |
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| 22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH |
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| 5q35 duplication and Hunter–McAlpine syndrome: Missing the link |
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| When should pediatric biobanks share data? |
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| Reply to 5q35 duplication and Hunter–McAlpine syndrome: Missing the link |
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| Mutations at <i>KCNQ1</i> and an unknown locus cause long QT syndrome in a large Australian family: Implications for genetic testing |
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| Overview of German, Nazi, and Holocaust medicine |
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✓ |
✓ |
black people; Jewish physicians; German |
| Phenotypic manifestations and management of hyperostosis cranialis interna, a hereditary bone dysplasia affecting the calvaria and the skull base |
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| De novo triple segmental aneuploid of 1p, 1q, and 4q in a girl with hypertrophic cardiomyopathy, muscle hypotonia, and multiple congenital anomalies |
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| Natural history and manifestations of the hypermobility type Ehlers–Danlos syndrome: A pilot study on 21 patients |
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| Potocki–Shaffer syndrome: Comprehensive clinical assessment, review of the literature, and proposals for medical management |
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| <i>FOXE3</i> plays a significant role in autosomal recessive microphthalmia |
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✓ |
✓ |
varied ethnic backgrounds; race‐specific; race/ethnicity‐matched control populations |
| Overlapping spectra of <i>SMAD4</i> mutations in juvenile polyposis (JP) and JP–HHT syndrome |
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| Imperforate anus is a rare associated finding in blepharocheilodontic syndrome |
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| Mowat–Wilson syndrome with associated dysphagia |
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| Array‐CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features |
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| Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20 |
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| Planar cell polarity pathway genes and risk for spina bifida |
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| Molecular cytogenetic characterization of a new case of partial trisomy 13 (13q11q13.2) |
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| Craniosynostosis‐microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autos |
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| Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20 |
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| The Roberts syndrome/SC phocomelia spectrum—A case report of an adult with review of the literature |
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| Mortality and incidence in women with 47,XXX and variants |
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| Terminal 3p deletions in two families—Correlation between molecular karyotype and phenotype |
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| Identification of a 21q22 duplication in a Silver–Russell syndrome patient further narrows down the Down syndrome critical region |
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| Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter |
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| Deletion of 7q11.21‐q11.23 and infantile spasms without deletion of <i>MAGI2</i> |
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| Novel frameshifting mutations of the <i>ZMPSTE24</i> gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature |
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| OEIS complex associated with chromosome 1p36 deletion: A case report and review |
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| Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25 |
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| Speech–language characteristics of children with neurofibromatosis type 1 |
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| 8q23‐q24 duplication—further delineation of a rare chromosomal abnormality |
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| Acute lymphoblastic leukemia in Weaver syndrome |
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| Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys–Dietz syndrome type 1B |
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| A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1–q14.1 region in an affected son |
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| A review of facial image analysis for delineation of the facial phenotype associated with fetal alcohol syndrome |
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| Personalized medicine presents challenges and opportunities |
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| New research may help differentiate similar diagnoses |
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| In this issue |
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| Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? |
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|
| American Journal of Medical Genetics Part A: Volume 152A, Number 2, February 2010 |
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| Table of Contents, Volume 152A, Number 2, February 2010 |
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| X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers |
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| Fetal constraint as a potential risk factor for craniosynostosis |
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| Review and hypothesis: Syndromes with severe intrauterine growth restriction and very short stature—Are they related to the epigenetic mechanism(s) of fetal survival involved in the developmental orig |
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| De novo 12;17 translocation upstream of <i>SOX9</i> resulting in 46,XX testicular disorder of sex development |
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| A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features |
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| Survival of Texas infants born with trisomies 21, 18, and 13 |
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| What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: <i>New Frontiers</i> |
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| Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay |
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| An interstitial 15q11‐q14 deletion: Expanded Prader‐Willi syndrome phenotype |
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| Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the <i>FGD1</i> gene |
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✓ |
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a cohort of 60 European patients |
| Unexpected finding of a paternal premutation of the fragile X <i>FMR1</i> gene in a female fetus of a premutation carrier mother |
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| <i>FBN1</i> mutations in patients with descending thoracic aortic dissections |
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| Birth incidence and prevalence of tumor‐prone syndromes: Estimates from a UK family genetic register service |
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| The elements of morphology: Ear—An initial approach for the incisura |
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| <i>MTHFR</i>,<i>TGFB3</i>, and<i>TGFA</i>polymorphisms and their association with the risk of non‐syndromic cleft lip and cleft palate in China |
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| Four unrelated patients with lubs X‐linked mental retardation syndrome and different Xq28 duplications |
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| Haploinsufficiency of the gene Quaking (<i>QKI</i>) is associated with the 6q terminal deletion syndrome |
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| Methylation profiling in individuals with Russell–Silver syndrome |
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