| Erratam to novel <i>SOX2</i> mutations and genotype‐phenotype correlation in anophthalmia and microphthalmia |
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| American Journal of Medical Genetics Part A: Volume 158A, Number 1, January 2012 |
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| Corrigendum to “Overview of German, Nazi, and Holocaust Medicine. Am J Med Genet 152A:687–707, 2010” |
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| More accurate Down syndrome screening test hits the market |
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| HHS recommends pulse oximetry for newborns |
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| In this issue |
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| Table of Contents, Volume 158A, Number 1, January 2012 |
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| Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay |
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| The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations. A population‐based study |
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| Genotype–phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice |
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| Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin |
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| A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population |
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| The perceived personal control (PPC) questionnaire: Reliability and validity in a sample from the United Kingdom |
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| An 800 kb deletion at 17q23.2 including the <i>MED13</i> (<i>THRAP1</i>) gene, revealed by aCGH in a patient with a SMC 17p |
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| The diagnostic odyssey to Rett syndrome: The experience of an Australian family |
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| Genome‐wide SNP genotyping identifies the <i>Stereocilin</i> (<i>STRC</i>) gene as a major contributor to pediatric bilateral sensorineural hearing impairment |
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| Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years |
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| Trends in cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects, metropolitan Atlanta, 1968–2005 |
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| Does the 1.5 Mb microduplication in chromosome band <i>Xp22.31</i> have a pathogenetic role? New contribution and a review of the literature |
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| Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2 |
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| Absence of <i>COCH</i> gene mutations in patients with superior semicircular canal dehiscence |
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| The 8th international research symposium on the Marfan Syndrome and related conditions |
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| A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect |
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| <i>CDKN1C</i> mutations and genital anomalies |
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| Mild nasal malformations and parietal foramina caused by homozygous <i>ALX4</i> mutations |
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| Medical care of adolescents and women with Rett syndrome: An Italian study |
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✓ |
✓ |
Italian; Southern Europe |
| The evaluation of cascade testing for familial hypercholesterolemia |
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| <i>SMC1A</i> codon 496 mutations affect the cellular response to genotoxic treatments |
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| Editorial comment: New diagnostic criteria for Marfan syndrome |
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| Myelodysplastic syndrome in a child with 15q24 deletion syndrome |
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| Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations |
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| Report of a mother and daughter with the 12q14 microdeletion syndrome |
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| Spina bifida subtypes and sub‐phenotypes by maternal race/ethnicity in the National Birth Defects Prevention Study |
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✓ |
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| Long‐term neuroimaging follow‐up on an asymptomatic juvenile metachromatic leukodystrophy patient after hematopoietic stem cell transplantation: Evidence of myelin recovery and ongoing brain maturatio |
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| A family of pseudohypoparathyroidism type Ia with an 850‐kb submicroscopic deletion encompassing the whole <i>GNAS</i> locus |
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| “<i>Did you find that out in time</i>?”: New life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely |
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| Array‐CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis |
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| Auriculo‐condylar syndrome. Confronting a diagnostic challenge |
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| Long QT, syndactyly, joint contractures, stroke and novel <i>CACNA1C</i> mutation: Expanding the spectrum of Timothy syndrome |
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| Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C |
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| Trends in occurrence of twin births in Japan |
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| Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit‐Robo Rho GTPase activating protein 2 (<i>SRGAP2</i>) |
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| Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient |
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| <i>MBTPS2</i> mutation causes BRESEK/BRESHECK syndrome |
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| In this issue |
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| Table of Contents, Volume 155, Number 12, December 2011 |
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| Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism |
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| Barriers to diagnosis of a rare neurological disorder in China—Lived experiences of Rett syndrome families |
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✓ |
✓ |
Chinese families |
| Phenotype of <i>FOXP2</i> haploinsufficiency in a mother and son |
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| Genetic alliance marks 25 years |
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| Regional variation in prevalence of oral cleft live births in the Netherlands 1997–2007: Time‐trend analysis of data from three Dutch registries |
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✓ |
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certain other European areas |
| A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing <i>GLI2</i> |
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| In‐frame multi‐exon deletion of <i>SMC1A</i> in a severely affected female with Cornelia de Lange Syndrome |
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| A re‐examination of the use of ethnicity in prenatal carrier testing |
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| Renal anomalies in Alagille syndrome: A disease‐defining feature |
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| Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases |
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| Duplication of the <i>ZIC2</i> gene is not associated with holoprosencephaly |
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| Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis |
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| Maternally and paternally inherited deletion of 7q31 involving the <i>FOXP2</i> gene in two families |
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| Gene patent pool set to launch |
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| American Journal of Medical Genetics Part A: Volume 155, Number 12, December 2011 |
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| Erratum to “Pseudoxanthoma Elasticum: Progress in Diagnostics and Research Towards Treatment Summary of the 2010 PXE International Research Meeting” Volume 155, Issue 7, July 2011, Pages: 1517–1526 Ar |
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| Chromosomal loss of 3q26.3‐3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability |
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| Microtia: Epidemiology and genetics |
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| Familial Poland anomaly revisited |
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| 8p21 microdeletion in a patient with intellectual disability and behavioral abnormalities |
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| Striking phenotypic variability in familial <i>TRPV4</i>‐axonal neuropathy spectrum disorder |
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| Vascular Ehlers–Danlos syndrome presenting as rapidly progressive multiple arterial aneurysms and dissections |
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| Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA |
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| Two large‐scale surveys on community attitudes toward an opt‐out biobank |
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| A newborn with overlapping features of AEC and EEC syndromes |
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| Reassessment of oral frenula in Ehlers–Danlos syndrome: A study of 32 patients with the hypermobility type |
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| Coronary artery disease in a Werner syndrome‐like form of progeria characterized by low levels of progerin, a splice variant of lamin A |
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| Split hand‐split foot‐ectodermal dysplasia and amelogenesis imperfecta with a <i>TP63</i> mutation |
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| Minimal genotype–phenotype correlation for small deletions within distal 1p36 |
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| The mall test (or fun with a dysmorphologist) |
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| Microdeletion of Xq28 involving the <i>AFF2</i> (<i>FMR2</i>) gene in two unrelated males with developmental delay |
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| Short stature due to 15q26 microdeletion involving <i>IGF1R</i>: Report of an additional case and review of the literature |
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| Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature |
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| Detection of a novel <i>FH</i> whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency |
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| Identification and characterization of a complex pure mosaic of small supernumerary marker chromosomes involving 11p11.12 → q12.1 and 19p12 → q12 regions in a child featuring multiple congenital anoma |
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| Submicroscopic deletion of 12q13 including <i>HOXC</i> gene cluster with skeletal anomalies and global developmental delay |
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| Functional characterization of a novel <i>TP63</i> mutation in a family with overlapping features of Rapp‐Hodgkin/AEC/ADULT syndromes |
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| Combined partial trisomy 11q and partial monosomy 10p in a 19‐year‐old female patient: Phenotypic and genotypic findings |
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| Mosaic marker chromosome 16 resulting in 16q11.2–q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia |
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| Mental retardation or intellectual disability? Time for a change |
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| Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy |
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| Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin |
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✓ |
|
Indian origin |
| Book review: Fifty Years of Human Genetics. A Festschrift and <i>Liber Amicorum</i> to Celebrate the Life and Work of George Robert Fraser. In: Mayo O, Leach C, editors. 2007. [email protected] |
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| Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental‐targeted screening test |
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| A polymorphism in the growth hormone receptor is associated with height in children with Prader–Willi syndrome |
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| Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology |
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| A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the <i>ZNF214</i> gene |
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| Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region |
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| A male newborn with VACTERL association and Fanconi anemia with a <i>FANCB</i> deletion detected by array comparative genomic hybridization (aCGH) |
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| Genetic and clinical profiles of spondylocostal dysostosis patients in Taiwan |
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| A de novo 3.54 Mb deletion of 17q22‐q23.1 associated with hydrocephalus: A case report and review of literature |
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| A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia |
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| Objective assessment of nasality in flemish adults with neurofibromatosis type 1 |
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✓ |
✓ |
Flemish; East Flemish part of Belgium |
| Severe neonatal‐onset panniculitis in a female infant with Prader–Willi syndrome |
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| Compound heterozygous mutations in <i>PYCR1</i> further expand the phenotypic spectrum of De Barsy syndrome |
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✓ |
✓ |
Chinese |
| Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr |
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| Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research |
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| NIH to include children's genomic data in electronic medical records |
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| American Journal of Medical Genetics Part A: Volume 155, Number 11, November 2011 |
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| In this issue |
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| Legal battle over <i>BRCA1</i> and <i>BRCA2</i> patents continues |
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| Table of Contents, Volume 155, Number 11, November 2011 |
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| Corrigendum to “A New Microdeletion Syndrome of 5q31.3 Characterized by Severe Developmental Delays, Distinctive Facial Features, and Delayed Myelination” |
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| Biological and epidemiological evidence of interaction of infant genotypes at Rs7205289 and maternal passive smoking in cleft palate |
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| Craniofacial and oral features of Sotos syndrome: Differences in patients with submicroscopic deletion and mutation of <i>NSD1</i> gene |
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| Clinical manifestations and management of four children with Pearson syndrome |
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| Coffin–Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern |
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| Axenfeld–Rieger anomaly and Axenfeld–Rieger syndrome: Clinical, molecular‐cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25 |
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✓ |
✓ |
Japanese |
| Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion |
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| The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication |
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| Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3 |
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| A therapeutic trial of pro‐methylation dietary supplements in Angelman syndrome |
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| Co‐occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers |
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| New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect |
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| Ablepharon–Macrostomia syndrome—Extension of the phenotype |
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| Novel <i>GDI1</i> mutation in a large family with nonsyndromic X‐linked intellectual disability |
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✓ |
✓ |
German family |
| Patterns of prenatal alcohol exposure and associated non‐characteristic minor structural malformations: A prospective study |
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| Oculo‐ectodermal syndrome: Report of a case with mosaicism for a deletion on Xq12 |
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| A novel interstitial microdeletion of 7q22.1‐7q22.3 detected by array comparative genomic hybridization |
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| Rhombencephalosynapsis is a malformation deserving of further study |
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| Birth history, physical characteristics, and medical conditions in long‐term survivors with full trisomy 13 |
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| A small homozygous microdeletion of 15q13.3 including the <i>CHRNA7</i> gene in a girl with a spectrum of severe neurodevelopmental features |
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| A homozygous mutation in <i>RNU4ATAC</i> as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder |
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| Cleft palate and ADULT phenotype in a patient with a novel <i>TP63</i> mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome |
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| <i>MYT1L</i> is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions |
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| Chromosomal anomalies in the etiology of anorectal malformations: A review |
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| Adrenal function in Smith–Lemli–Opitz syndrome |
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| Genetic contribution to bicuspid aortic valve morphology |
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| Genetic contribution of bicuspid aortic valve morphology |
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| Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis |
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| De novo 5q14.3 translocation 121.5‐kb upstream of <i>MEF2C</i> in a patient with severe intellectual disability and early‐onset epileptic encephalopathy |
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| A deleterious founder mutation in the <i>BMPER</i> gene causes diaphanospondylodysostosis (DSD) |
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|
✓ |
✓ |
East Jerusalem Arab‐Muslim families; Arab population |
| <i>ZIC2</i> mutations are seen in holoprosencephaly and not partial rhombencephalosynapsis |
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| The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan |
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| Whole‐exome sequencing detects somatic mutations of <i>IDH1</i> in metaphyseal chondromatosis with <scp>D</scp>‐2‐hydroxyglutaric aciduria (MC‐HGA) |
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| Qualitative assessment of study materials and communication strategies used in studies that include DNA collection |
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|
✓ |
✓ |
maternal race and ethnicity |
| A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum |
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| Abbreviations and terminology surrounding autism spectrum disorders and intellectual disability |
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| Phenotypic heterogeneity in Woodhouse–Sakati syndrome: Two new families with a mutation in the C2orf37 gene |
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| Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: Evidence for a spectrum of ectopic calcification disorders? |
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| Angelman syndrome and prenatally diagnosed Prader–Willi syndrome in first cousins |
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| Congenital diaphragmatic hernia in Smith–Magenis syndrome: A possible locus at chromosome 17p11.2 |
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| Craniofacial morphology in patients with hypophosphatemic rickets: A cephalometric study focusing on differences between bone of cartilaginous and intramembranous origin |
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| Compound heterozygous deletion of<i>NRXN1</i>causing severe developmental delay with early onset epilepsy in two sisters |
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✓ |
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| Progressive leukoencephalopathy with intracranial calcification, congenital deafness, and developmental deterioration |
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| Severe osteogenesis imperfecta caused by a small in‐frame deletion in <i>CRTAP</i> |
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| Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted? |
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| Common structural features characterize interstitial intrachromosomal Xp and 18q triplications |
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| Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non‐acrocentric satellited chromosomes |
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| Vici syndrome—A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy |
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| Immunodeficiency in Vici syndrome: A heterogeneous phenotype |
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| Revisit of multiple epiphyseal dysplasia: Ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes |
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✓ |
✓ |
Korean |
| Clinical characterization of a newly described neonatal diabetes syndrome caused by <i>RFX6</i> mutations |
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| Correlation of intercentromeric distance, mosaicism, and sexual phenotype: Molecular localization of breakpoints in isodicentric Y chromosomes |
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| Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? |
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| Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome? |
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| Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization |
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| Tibial hemimelia in Langer–Giedion syndrome with 8q23.1‐q24.12 interstitial deletion |
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| Opitz bolstered research and careers, colleagues say |
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| Table of Contents, Volume 155, Number 10, October 2011 |
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| Opitz award paper describes Marshall‐Smith syndrome |
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| American Journal of Medical Genetics Part A: Volume 155, Number 10, October 2011 |
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| Dr. John M. Opitz wins Allan Award |
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| Persistence of a monosomic cell line in a fetus with mosaic trisomy 8 |
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| Identical twin sisters with Rubinstein–Taybi syndrome associated with Chiari malformations and syrinx |
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| Christianson syndrome in a patient with an interstitial Xq26.3 deletion |
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| Ectopia lentis as the presenting and primary feature in Marfan syndrome |
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| Deletion and duplication of 11p13‐11p14: Reciprocal aberrations derived from a paternal insertion |
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| Néstor–Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by <i>BANF1</i> mutations |
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| Neurodevelopmental outcomes in children with Down syndrome and congenital heart defects |
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| Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome |
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| Axial spondylometaphyseal dysplasia: Additional reports |
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| Ramos‐Arroyo syndrome: Confirmation of an entity |
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| Deletion 2p15–16.1 syndrome: Case report and review |
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| Kleefstra syndrome in three adult patients: Further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course |
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| Two sisters resembling Gorlin–Chaudhry–Moss syndrome |
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| Eighteen‐year follow‐up of a patient with cobalamin F disease (cblF): Report and review |
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| Having a brother or sister with Down syndrome: Perspectives from siblings |
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| Self‐perceptions from people with Down syndrome |
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| X‐linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by <i>FANCB</i> mutations |
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| Pregnancy outcome in carriers of Robertsonian translocations |
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| Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developme |
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| <i>FGFR3</i> related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases |
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| Long‐term survival in TARP syndrome and confirmation of <i>RBM10</i> as the disease‐causing gene |
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| Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel <i>PTPN11</i> mutation Gln510His |
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| Pitfalls in the use of DGV for CNV interpretation |
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| Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex |
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| An addendum to the review of jumping translocation by Reddy |
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| A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis |
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| Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs |
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| Inherited interstitial 16q21 deletion of 5.8 Mb without apparent phenotypic effect in three generations of a family: An array‐CGH study |
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| Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria‐congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities |
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| Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome |
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| Visual processing in Noonan syndrome: Dorsal and ventral stream sensitivity |
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| New case of Primrose syndrome with mild intellectual disability |
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| High‐level 46XX/46XY chimerism without clinical effect in a healthy multiparous female |
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| Fanconi–Bickel syndrome and fertility |
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| Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability |
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| Madelung deformity in a girl with a novel and de novo mutation in the <i>GNAS</i> gene |
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| Somatic mosaicism contributes to phenotypic variation in Timothy syndrome |
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| West syndrome associated with mosaic duplication of <i>FOXG1</i> in a patient with maternal uniparental disomy of chromosome 14 |
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| Did the <i>GJB2</i> 35delG mutation originate in Iran? |
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✓ |
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✓ |
✓ |
Iranian |
| Having a son or daughter with Down syndrome: Perspectives from mothers and fathers |
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| Bone density phenotypes in mice aneuploid for the Down syndrome critical region |
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| Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post‐mortem genetic analysis of tissue specimens |
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✓ |
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| American Journal of Medical Genetics Part A: Volume 155, Number 9, September 2011 |
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| Table of Contents, Volume 155, Number 9, September 2011 |
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| State administrative data can aid long‐term newborn follow‐up, researchers report |
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| A majority of parents accept newborn screening for fragile X |
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| In this issue |
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| Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS) |
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| Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression‐targeted isoflavone therapy (GET IT) |
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| Conflicts regarding genetic counseling for fragile X syndrome screening: A survey of clinical geneticists and genetic counselors in Israel |
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| Editorial comment on “Whole Exome Sequencing Identifies Compound Heterozygous Mutations in WDR62 in Siblings With Recurrent Polymicrogyria” |
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| The real tiger mother: From the clinical geneticist's perspective |
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| Microcephaly–capillary malformation syndrome: A story of rapid emergence of a new recognizable entity |
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| Heterozygous C‐propeptide mutations in <i>COL1A1</i>: Osteogenesis imperfecta type IIC and dense bone variant |
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| A new case of HDR syndrome with severe female genital tract malformation: Comment on “Novel Mutation in the Gene Encoding the GATA3 Transcription Factor in a Spanish Familial Case of Hypoparathyroidis |
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| Growth in Phelan–McDermid syndrome |
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| A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability |
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| Contribution of variants in and near the <i>IRF6</i> gene to the risk of nonsyndromic cleft lip with or without cleft palate in a Malay population |
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✓ |
✓ |
Malay population; Asians; Southeast Asian population; Asian genetic backgrounds |
| Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature |
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| Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to <i>PYCR1</i> mutations |
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| Whole‐exome sequencing identifies compound heterozygous mutations in <i>WDR62</i> in siblings with recurrent polymicrogyria |
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✓ |
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Northern European descent |
| Mild Tessier No. 7 cleft with PHACE syndrome: The case for pulmonary vascular steal |
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| Physical health problems in adults with Prader–Willi syndrome |
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| Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion |
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| Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome |
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| Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed <i>NSD1</i> alterations, including a detailed case report of the oldest person |
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✓ |
✓ |
fair cutaneous phototype |
| Catel–Manzke syndrome: A clinical report suggesting autosomal recessive inheritance |
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| Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome |
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| Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot |
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✓ |
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| Different roles of two novel susceptibility loci for nonsyndromic orofacial clefts in a Chinese Han population. |
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✓ |
✓ |
Chinese Han population |
| Chromosome 22q11.2 deletion syndrome in African‐American patients: A diagnostic challenge |
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✓ |
✓ |
African-American |
| Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: Molecular characterization of two der(11)t(11;16) |
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| Pierpont syndrome: A collaborative study |
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| Features of basal cell carcinomas in basal cell nevus syndrome |
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| Clinical pre‐ and postnatal (step‐by‐step) history of a boy with unbalanced translocation—t(3;15)(q26.33;q26.1) |
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| Response to Kouwenberg et al. “Recognizable Phenotype With Common Occurrence of Microcephaly, Psychomotor Retardation, But No Spontaneous Bone Fractures in ARCL2B Due to <i>PYCR1</i> Mutations” |
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| Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1‐qter) |
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| Furthering the link between the sarcomere and primary cardiomyopathies: Restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardio |
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| Mosaic trisomy 17: Variable clinical and cytogenetic presentation |
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| Tissue‐specific mosaicism for tetrasomy 9p uncovered by array CGH |
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| MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome |
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| Book review |
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| De novo 5q35.5 duplication with clinical presentation of Sotos syndrome |
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| Report of a further family with dominant deafness‐onychodystrophy (DDOD) syndrome |
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| Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African cohort |
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✓ |
✓ |
✓ |
European‐derived; Asians; Amerindians; Africans; east Africa; Kenya African cohort; different major populations |
| Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH |
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| Somatic mutations in <i>NKX2–5</i>, <i>GATA4</i>, and <i>HAND1</i> are not a common cause of tetralogy of Fallot or hypoplastic left heart |
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| Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders |
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| The male phenotype in osteopathia striata congenita with cranial sclerosis |
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| A de novo 2.1‐Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features |
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| Wilms tumor incidence in children with 2q terminal deletions: A cohort study |
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| Possible case of sirenomelia in the Tumaco‐Tolita pottery pre‐Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali‐Colombia |
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| Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8 M base interval |
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| Reproductive success in patients with Hallermann–Streiff syndrome |
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| The Niemann‐Pick C1 gene interacts with a high‐fat diet and modifying genes to promote weight gain |
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| Homozygous microdeletion of the <i>POU1F1</i>, <i>CHMP2B</i>, and <i>VGLL3</i> genes in chromosome 3—A novel syndrome |
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| Automated syndrome detection in a set of clinical facial photographs |
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| Mosaic partial trisomy 19p12‐q13.11 due to a small supernumerary marker chromosome: A locus associated with Asperger syndrome? |
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| The clinical delineation of malformation syndromes: Historical prospective and future direction |
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| Two novel heterozygous mutations of <i>EVC2</i> cause a mild phenotype of Ellis–van Creveld syndrome in a Chinese family |
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✓ |
✓ |
Chinese |
| The microcephaly‐capillary malformation syndrome |
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| Maternal age and prevalence of isolated congenital heart defects in an urban area of the United States |
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| Potential teratogenic effects of allopurinol: A case report |
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| A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features |
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| Screening for celiac disease in the joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type |
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| Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms |
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| Familial cardiac valvulopathy due to filamin A mutation |
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| Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1 |
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| Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies? |
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| Monozygotic twin discordance for phacomatosis cesioflammea further supports the post‐zygotic mutation hypothesis |
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✓ |
✓ |
Mongolian spot |
| Genetic cause of rare disease may be involved in more common birth defects |
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| In this issue |
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| Erratum to: Somatic Mosaicism in Menkes Disease Suggests Choroid Plexus‐Mediated Copper Transport to the Developing Brain |
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| New legal model suggested for DNA samples given to biobanks |
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| American Journal of Medical Genetics Part A: Volume 155, Number 8, August 2011 |
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| Table of Contents, Volume 155, Number 8, August 2011 |
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| The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature |
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| Masticatory muscle defects in hemifacial microsomia: A new embryological concept |
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| Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes |
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| Wolf–Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter |
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| Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: Olfactory bulb aplasia and anosmia |
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| Delineation of dermatan 4‐<i>O</i>‐sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients |
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| Duplication of the STS region in males is a benign copy‐number variant |
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| X‐linked mental retardation with alacrima and achalasia—Triple A syndrome or a new syndrome? |
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✓ |
✓ |
Israeli Arab |
| Complex chromosomal rearrangement in a girl with psychomotor‐retardation and a de novo inversion: inv(2)(p15;q24.2) |
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| Monozygotic twins with variable expression of Van der Woude Syndrome |
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| Further expansion of the phenotypic spectrum associated with mutations in <i>ALDH18A1</i>, encoding Δ<sup>1</sup>‐pyrroline‐5‐carboxylate synthase (P5CS) |
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✓ |
✓ |
Pakistani origin |
| Trisomy 13 (Patau syndrome) and craniosynostosis |
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| How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel |
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✓ |
✓ |
Ashkenazi Jews; founder populations/groups (founder screening studies) |
| Discovery of genetic susceptibility factors for human birth defects: An opportunity for a national agenda |
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| Megacystis, megacolon, and malrotation: A new syndromic association? |
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| Patients with VACTERL association deserve careful scrutiny: Response to Jenetzky et al. |
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| Successful pregnancy in the patient with Fanconi‐Bickel syndrome undergoing daily hemodialysis |
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| A prenatal case of inverted duplication with terminal deletion of 5p not including the cat‐like cry critical region |
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| Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings |
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| Embracing the unique role of genetic counselors: Response to the commentary by Madeo et al. |
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| Down syndrome and dementia: A randomized, controlled trial of antioxidant supplementation |
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| Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo‐lethality |
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| Achondroplasia with synostosis of multiple sutures |
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| Bias in patient series with VACTERL association |
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| Mutational analysis of 12 patients with the phenotype of Ehlers–Danlos syndrome type VIB shows no linkage to the zinc transporter gene <i>SLC39A13</i> |
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| Five patients with novel overlapping interstitial deletions in 8q22.2q22.3 |
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| A pigmentary skin defect is a new finding in Marshall–Smith syndrome |
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| A novel nonsense mutation in <i>TUSC3</i> is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family |
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| Genetic and functional analyses identify <i>DISC1</i> as a novel callosal agenesis candidate gene |
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| Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism |
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| A 1 bp deletion in the dual reading frame deafness gene <i>LRTOMT</i> causes a frameshift from the first into the second reading frame |
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| Hyperphosphatasia‐mental retardation syndrome due to <i>PIGV</i> mutations: Expanded clinical spectrum |
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| Revisiting recombinant 8 syndrome |
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| Constructing “best interests”: Genetic testing of children in families with hypertrophic cardiomyopathy |
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| Rebuttal to the invited comment of Opitz and Carey |
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| A pilot study to determine whether health care professionals perceive stigma in heterozygote carrier identification and disclosure decisions |
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✓ |
✓ |
self-identified ancestry |
| Abnormal circadian rhythm of melatonin in Smith–Magenis syndrome patients with <i>RAI1</i> point mutations |
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| The FRAXopathies: Definition, overview, and update |
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| Familial intellectual disability and autistic behavior caused by a small <i>FMR2</i> gene deletion |
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| Reaching across the disability divide: The case for collaboration with the disability community to construct a robust informed consent process around prenatal screening and diagnosis |
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| In this issue |
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| Table of Contents, Volume 155, Number 7, July 2011 |
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| A next generation sequencing test |
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| American Journal of Medical Genetics Part A: Volume 155, Number 7, July 2011 |
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| Corrigendum: Fulminant Hepatic Failure Requiring Liver Transplantation in 22q13.3 Deletion Syndrome |
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| Cystic fibrosis screening recommended for all women |
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| The ancient Egyptian dwarfs of the pyramids: The high official and the female worker |
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| Methotrexate and misoprostol teratogenicity: Further expansion of the clinical manifestations |
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| Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization |
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| Pseudoxanthoma elasticum: Progress in diagnostics and research towards treatment |
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| Adults with congenital heart disease: Patients' knowledge and concerns about inheritance |
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| A loss of function mutation in the <i>COL9A2</i> gene causes autosomal recessive Stickler syndrome |
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| Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome |
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| Fetal pads as a clue to the diagnosis of Pitt–Hopkins syndrome |
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| Homozygous <i>PTEN</i> deletion in neuroblastoma arising in a child with Cowden syndrome |
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| Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8 |
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| Trisomy 18: Experience of a reference hospital from the south of Brazil |
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| In memoriam: Charles J. Epstein |
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| Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature |
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| Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22 |
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| Associated anomalies among infants with oral clefts at birth and during a 1‐year follow‐up |
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| Microdeletion 20p12.3 involving <i>BMP2</i> contributes to syndromic forms of cleft palate |
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| Lateral meningocele syndrome and Hajdu–Cheney syndrome: Different disorders with overlapping phenotypes |
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| Response to Happle a novel X linked phenotype caused by hypomorphic EBP mutation |
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| Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 |
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| Neonatal progeroid syndrome (Wiedemann–Rautenstrauch syndrome): Report of three affected sibs |
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| Efficacy of modafinil on excessive daytime sleepiness in Prader–Willi syndrome |
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| Phenotypic variability of distal 22q11.2 copy number abnormalities |
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| Avascular necrosis of the femoral head due to a novel C propeptide mutation in <i>COL2A1</i> |
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| Adults with Rubinstein–Taybi syndrome |
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| Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome |
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| Are genetic counselors just misunderstood? Thoughts on “The Relationship Between the Genetic Counseling Profession and the Disability Community: A Commentary” |
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| Trisomy 13 and 18 and quality of life: Treading “softly” |
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| Book review |
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| Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis |
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| In memoriam: Ahmad S. Teebi, 1949–2010 |
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| The Pitt‐Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria |
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✓ |
✓ |
Italian origin |
| Response to “Lateral Meningocele Syndrome and Hajdu–Cheney Syndrome: Different Disorders With Overlapping Phenotypes” by Gripp |
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| The role of cytomegalovirus in schizencephaly |
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| Genetic contribution for non‐syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies |
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✓ |
✓ |
ancestry; ethnic background; Brazilian population; local population |
| Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI |
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| Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of <i>ZIC2</i> |
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| Neurofibromatosis 2: A novel risk factor for hypertension? |
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| Rett syndrome: A study of the face |
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✓ |
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| The 3q29 microdeletion syndrome: Report of three new unrelated patients and in silico “RNA binding” analysis of the 3q29 region |
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| A 10.46 Mb 12p11.1–12.1 interstitial deletion coincident with a 0.19 Mb <i>NRXN1</i> deletion detected by array CGH in a girl with scoliosis and autism |
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| A patient with apparently reciprocal translocation and cryptic 10p deletion |
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| Expanding the phenotype of gingival fibromatosis–mental retardation–hypertrichosis (Zimmermann–Laband) syndrome |
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| Isolated oligodontia associated with mutations in <i>EDARADD</i>, <i>AXIN2</i>, <i>MSX1</i>, and <i>PAX9</i> genes |
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✓ |
✓ |
Swedish |
| 5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of <i>RASA1</i> and <i>MEF2C</i> |
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| De novo Xq11.11 microdeletion including <i>ARHGEF9</i> in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features |
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| Prevalence of sleep problems in Smith‐Lemli‐Opitz syndrome |
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| Submicroscopic deletion in 7q31 encompassing <i>CADPS2</i> and <i>TSPAN12</i> in a child with autism spectrum disorder and PHPV |
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| Encephalocraniocutaneous lipomatosis (ECCL): Neuroradiological findings in three patients and a new association with fibrous dysplasia |
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| Fanconi anemia‐like presentation in an infant with constitutional deletion of 21q including the <i>RUNX1</i> gene |
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| Array‐CGH study of partial trisomy 9p without mental retardation |
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| Coming soon: NIH genetic test registry |
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| Corrigendum to “Versteegh FGA, Buma SA, Costin G, Jong WC de, Hennekam RCM, EvC Working Party: 2007. Growth hormone analysis and treatment in Ellis–van Creveld syndrome. Am J Med Genet Part A 143A:211 |
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| Noninvasive prenatal tests for Down syndrome are near |
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|
| American Journal of Medical Genetics Part A: Volume 155, Number 6, June 2011 |
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| In this issue |
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|
|
| Table of Contents, Volume 155, Number 6, June 2011 |
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| A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion |
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| Understanding physicians' attitudes toward people with Down syndrome |
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✓ |
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| Genomic strategy identifies a missense mutation in <i>WD‐repeat domain 65</i> (<i>WDR65</i>) in an individual with Van der Woude syndrome |
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| A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability |
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| Anatomic and etiological classification of congenital limb deficiencies |
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| Additional features of unique Primrose syndrome phenotype |
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| Familial 9q22.3 microduplication spanning <i>PTCH1</i> causes short stature syndrome with mild intellectual disability and dysmorphic features |
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| Ritscher–Schinzel (cranio‐cerebello‐cardiac, 3C) syndrome: Report of four new cases with renal involvement |
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| Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex |
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| <i>TGFBR2</i> deletion in a 20‐month‐old female with developmental delay and microcephaly |
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| Mutations in <i>FKBP10</i> cause both Bruck syndrome and isolated osteogenesis imperfecta in humans |
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✓ |
✓ |
Saudi family |
| GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening |
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✓ |
✓ |
Ashkenazi Jewish community; consanguineous populations; our population |
| Association of ABCA4 and MAFB with non‐syndromic cleft lip with or without cleft palate |
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| Age related change in social behavior in children with Angelman syndrome |
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| Mutation and expression analyses of the ribosomal protein gene <i>RPL10</i> in an extended German sample of patients with autism spectrum disorder |
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| Deletion 2q31.2‐q31.3 in a 4‐year‐old girl with microcephaly and severe mental retardation |
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| Extending the phenotype of lethal skeletal dysplasia type al Gazali |
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| Type 1 collagenopathy presenting with a Russell–Silver phenotype |
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| Late‐onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis |
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| A remarkable <i>APC</i> mosaicism with two mutant alleles in a family with familial adenomatous polyposis |
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| Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: Microcephaly, developmental delay and delayed bone age |
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| 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity |
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| A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family |
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| A new case of maternal lupus‐associated chondrodysplasia punctata with extensive spinal anomalies |
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| Lethal presentation of neurofibromatosis and Noonan syndrome |
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| A patient with Keipert syndrome and isolated fibrous dysplasia of the sphenoid sinus |
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| Mutation in SAM domain of <i>TP63</i> is associated with nonsyndromic cleft lip and palate and cleft palate |
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| High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome) |
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| Craniorachischisis and omphalocele in a stillborn cynomolgus monkey (<i>Macaca fascicularis</i>) |
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| Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q |
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| Toriello‐Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH |
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| The smallest teeth in the world are caused by mutations in the <i>PCNT</i> gene |
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| Obesity in pycnodysostosis due to UPD1: Possible effect of an imprinted gene on chromosome 1 |
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| Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2‐5q35.3: An association with Hunter–McAlpine syndrome? |
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| Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: When more is less |
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| The relationship between the genetic counseling profession and the disability community: A commentary |
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| Maternal vitamin D receptor genetic variation contributes to infant birthweight among black mothers |
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|
✓ |
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|
✓ |
✓ |
non‐Hispanic black (NHB); non‐Hispanic white (NHW) |
| Significant liver disease in a patient with Y116H mutation in the <i>MVK</i> gene |
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| Co‐occurring <i>SHOC2</i> and <i>PTPN11</i> mutations in a patient with severe/complex Noonan syndrome‐like phenotype |
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| Is autosomal recessive Silver–Russel syndrome a separate entity or is it part of the 3‐M syndrome spectrum? |
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| Cancer predisposition in children with Kabuki syndrome |
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| Identification of <i>SPRED1</i> deletions using RT‐PCR, multiplex ligation‐dependent probe amplification and quantitative PCR |
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| Balanced information about Down syndrome: What is essential? |
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| Distinctive phenotype in 9 patients with deletion of chromosome 1q24‐q25 |
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| Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: Report of a new case and further delineation of a new syndrome |
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| Identification of p.A684V missense mutation in the <i>WFS1</i> gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment |
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| Cerebroretinal microangiopathy with calcifications and cysts: Characterization of the skeletal phenotype |
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|
| Response to “The Role of Cytomegalovirus in Schizencephaly” by Spalice et al. |
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| Book review |
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|
| ASD is an incorrect abbreviation for autism spectrum disorders |
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|
| Corrigendum to “Hyperphosphatasia With Seizures, Neurologic Deficit, and Characteristic Facial Features: Five New Patients With Mabry Syndrome” Am J Med Genet 152A: 1661‐1669 |
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|
| Table of Contents, Volume 155, Number 5, May 2011 |
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| Costello syndrome community mourns New Zealand pediatrician |
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| Late onset Pompe disease revealed by newborn screening |
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|
| In this issue |
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|
|
| American Journal of Medical Genetics Part A: Volume 155, Number 5, May 2011 |
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|
|
| Familial ring (18) mosaicism in a 23‐year‐old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypica |
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| Expanding the skeletal phenotype of Loeys‐Dietz syndrome |
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|
| Deletion of the immunoglobulin domain of <i>IL1RAPL1</i> results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism |
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| Left ventricular noncompaction in Sotos syndrome |
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| Homozygosity mapping identifies the Crumbs homologue 1 (<i>Crb1</i>) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos |
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| In‐frame deletion in <i>FLNA</i> causing familial periventricular heterotopia with skeletal dysplasia in males |
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| Co‐occurrence of severe Goltz–Gorlin syndrome and pentalogy of Cantrell – Case report and review of the literature |
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| The Richieri‐Costa and Pereira syndrome: Report of two Brazilian siblings and review of literature |
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| <i>WNT10A</i> and isolated hypodontia |
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| 6q27 subtelomeric deletions: Is there a specific phenotype? |
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| Presenting physical characteristics, medical conditions, and developmental status of long‐term survivors with trisomy 9 mosaicism |
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| Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array‐based comparative genomic hybridization |
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| Two Iranian families with a novel mutation in <i>GJB2</i> causing autosomal dominant nonsyndromic hearing loss |
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| Risk factors for aortic valve disease in bicuspid aortic valve: A family‐based study |
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| LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations |
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✓ |
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two European families; same European background |
| HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31 |
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| Implementing the elements of morphology in the <i>American Journal of Medical Genetics</i> |
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| Differential diagnosis of Smith–Magenis syndrome: 1p36 deletion syndrome |
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| Monozygotic twins of Rubinstein–Taybi syndrome discordant for glaucoma |
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| A de novo deletion of <i>CALN1</i> in a male with a bilateral diaphragmatic defect does not definitely cause this malformation |
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| Wisconsin stillbirth services program: A multifocal approach to stillbirth analysis |
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| A comprehensive description of the severity groups in Cockayne syndrome |
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| Multiple increased osteoclast functions in individuals with neurofibromatosis type 1 |
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| Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21‐22.1 locus |
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| Vestibular dysfunction in DFNB1 deafness |
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| From VACTERL‐H to heterotaxy: Variable expressivity of ZIC3—related disorders |
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| PTPN11 gene mutation associated with abnormal gonadal determination |
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| Epidemiology of Ebstein anomaly: Prevalence and patterns in Texas, 1999–2005 |
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| Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome |
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| der(4)t(Y;4): Three‐generation transmission and sperm meiotic segregation analysis |
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| Commentary: Recognizing syndromes with overlapping features: How difficult is it? Considerations generated by the article on differential diagnosis of Smith–Magenis syndrome by Vieira and colleagues |
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| <i>SMAD4</i> mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction |
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| A deleterious mutation in the <i>LOXHD1</i> gene causes autosomal recessive hearing loss in Ashkenazi Jews |
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✓ |
✓ |
Ashkenazi Jews |
| Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome? |
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✓ |
✓ |
Arab origin |
| Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems |
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| A novel X‐linked phenotype caused by hypomorphic <i>EBP</i> mutations |
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| Book review |
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| Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy) |
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| Short‐term follow‐up of a Brazilian patient with Cantú syndrome |
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| Mental retardation: Is naming the real issue? |
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| Nutritional phases in Prader–Willi syndrome |
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| Book review |
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| The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome? |
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| Wilms tumor in a patient with 22q11.2 microdeletion |
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| American Journal of Medical Genetics Part A: Volume 155, Number 4, April 2011 |
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| Table of Contents, Volume 155, Number 4, April 2011 |
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| Then and now: Past Opitz winners discuss the influence of the award on their careers |
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| Corrigendum |
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| Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia |
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| An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests |
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| AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome |
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| A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby |
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✓ |
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Han Chinese |
| Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature |
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| How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability? |
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| Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2 |
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| Human equivalent of mouse disorganization: Has the case been made? |
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| Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family |
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✓ |
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Portuguese family |
| Prevalence and patterns of choanal atresia and choanal stenosis among pregnancies in Texas, 1999-2004 |
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| An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy |
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| A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX |
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| Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication |
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| Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX |
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| Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature |
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| Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C |
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| Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome |
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| Early pontocerebellar hypoplasia with vanishing testes: A new syndrome? |
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| Congenital isolated leukonychia totalis in three Egyptian sibs |
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| A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX |
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| Infantile cardioencephalopathy due to a COX15 gene defect: Report and review |
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| Ring 21 chromosome presenting with epilepsy and intellectual disability: Clinical report and review of the literature |
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| Ehlers-Danlos type VIII, periodontitis-type: Further delineation of the syndrome in a four-generation pedigree |
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| Mutational analysis of PACT gene in Chinese patients with microtia |
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| Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion |
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| A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia |
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| Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome) |
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| UPD detection using homozygosity profiling with a SNP genotyping microarray |
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| 5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects |
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| Study newsletters, community and ethics advisory boards, and focus group discussions provide ongoing feedback for a large biobank |
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| Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene |
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| Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3′ end of the FBN1 gene |
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| Nosology and classification of genetic skeletal disorders: 2010 revision |
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| Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation |
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| An additional patient with mycophenolate mofetil embryopathy: Cardiac and facial analyses |
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| Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series |
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| Invited comment on terminology |
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| A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination |
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| Spondylometaphyseal dysplasia with cone-rod dystrophy |
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| Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2 |
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| Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume |
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| Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype |
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| Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome |
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| Pulmonary manifestations in Proteus syndrome: Pulmonary varicosities and bullous lung disease |
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| A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene |
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| A comparison of the background, needs, and expectations of patients seeking genetic counseling services |
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| Development of a scale to assess the background, needs, and expectations of genetic counseling clients |
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| Erratum: Polymorphisms in <i>KCNE1</i> or <i>KCNE3</i> are not associated with Ménière disease in the Caucasian population |
✓ |
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| Table of Contents, Volume 155, Number 3, March 2011 |
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| A family with partial duplication/deletion 4p due to a balanced t (4; 15) (p16.2; p11.2) translocation |
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| New test catches most Turner syndrome cases |
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| Fetal genome sequenced from parents' blood samples |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 155, Number 3, March 2011 |
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| Grade 1 microtia, wide anterior fontanel and novel type tracheo‐esophageal fistula in methimazole embryopathy |
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| Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion |
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| Should 22q11 deletion be added to newborn screening panels? |
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| Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype |
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| American Journal of Medical Genetics Part A: Volume 155, Number 1, January 2011 |
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| Table of Contents, Volume 155, Number 1, January 2011 |
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| Alu‐mediated recombination in the <i>HAX1</i> gene as the molecular basis of severe congenital neutropenia |
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| Genetic screening for Krabbe disease: Learning from the past and looking to the future |
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| Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: Genotype–phenotype correlations |
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✓ |
✓ |
Amish |
| Blepharophimosis mental retardation syndrome Say‐Barber/Biesecker/Young‐Simpson type – New findings with neuroimaging |
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| Linking chromosome abnormality and copy number variation |
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| Saving Grace: On the nature of syndromes and the missed Nobel |
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| 500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip |
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| Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome |
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| Molecular cytogenetic and clinical characterization of a patient with a 5.6‐Mb deletion in 7p15 including <i>HOXA</i> cluster |
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| New research highlighted at ASHG meeting |
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| Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1 |
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| Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation |
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| The difficult nosology of blepharophimosis–mental retardation syndromes: Report on two siblings |
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| A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the <i>WNT7A</i> gene causes tetra‐amelia in two Saudi families |
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| Ophthalmic findings in the Greek isolate of Cohen syndrome |
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✓ |
✓ |
Greek, Greek isolate, Greek patients, ethnic group, ethnicities, other ethnicities |
| Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis—Identification of a novel SLC34A3/NaPi‐IIc mutation |
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| A girl with metopic synostosis and trisomy 13 mosaicism: Case report and review of the literature |
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| Comparison of the background, needs, and expectations for genetic counseling of adults with experience with Down syndrome, Marfan syndrome, and neurofibromatosis |
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| The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann–Pick disease type C after therapy with miglustat |
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| In this issue |
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| Craniomicromelic syndrome: First report in a male |
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| A new case of de novo translocation (12;17;18)(q21.2;q22;q21.1) and cranio‐cerebello‐cardiac (3C) syndrome |
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| Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies |
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| Noncompaction is already known in DiGeorge anomaly from 22q11.2 deletion |
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| CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review |
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| Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome |
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| Associated malformations among infants with neural tube defects |
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| Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardium |
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| Hajdu–Cheney syndrome with severe dural ectasia |
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| Genotype–phenotype correlations in the genomic age: Concordance in monozygous twin pairs |
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| Variable expression of neurofibromatosis 1 in monozygotic twins |
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| Genetic dosage compensation in a family with velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome |
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| Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997–2005 |
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✓ |
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| Carnitine and coenzyme Q10 levels in individuals with Prader–Willi syndrome |
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| A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome |
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| The Society of Craniofacial Genetics. Abstracts of the 2010 annual meeting |
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| In this issue |
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| In Memoriam Ihsan Dogramacı (1915–2010) |
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| Prenatal diagnosis and molecular characterization of two constitutional rings derived from one chromosome 22 |
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| 2q23 de novo microdeletion involving the <i>MBD5</i> gene in a patient with developmental delay, postnatal microcephaly and distinct facial features |
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| A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies |
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| Potocki–Lupski syndrome: An inherited dup(17)(p11.2p11.2) with hypoplastic left heart |
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| Department of justice opposes patents on isolated genes |
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| Federal advisory committee on genetics devises final recommendations |
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| American Journal of Medical Genetics Part A: Volume 155, Number 2, February 2011 |
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| Goldenhar syndrome phenotypes and 22q11 deletion |
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| Introduction to growth and development in craniofacial anomalies symposium and society of craniofacial genetics abstracts |
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| Table of Contents, Volume 155, Number 2, February 2011 |
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| Cerebral dysgenesis does not exclude OFD I syndrome |
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| Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12 |
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| De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations |
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| A de novo deletion of 20q11.2–q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty |
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| De novo duplication of 18p11.21–18q12.1 in a female with anorectal malformation |
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| Fanconi–Bickel syndrome: Report of life history and successful pregnancy in an affected patient |
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| Why is the construction: Hypoplastic left heart “syndrome” a misnomer? And: What is a syndrome, anyhow? |
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| Clinical follow‐up of young adults affected by Williams syndrome: Experience of 45 Italian patients |
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| Microdeletion of 17q22q23.2 encompassing <i>TBX2</i> and <i>TBX4</i> in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension |
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| The severe end of the spectrum: Hypoplastic left heart in Potocki‐Lupski syndrome |
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| A translocation between Xq21.33 and 22q13.33 causes an intragenic <i>SHANK3</i> deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism |
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| Array‐based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation |
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