A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
about
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3Understanding the impact of 1q21.1 copy number variantExpanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1Identification of de novo mutations and rare variants in hypoplastic left heart syndromePhenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controlsAutism risk factors: genes, environment, and gene-environment interactionsCNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorderThe Evolving Diagnostic and Genetic Landscapes of Autism Spectrum DisorderCytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variantsFollowing the genes: a framework for animal modeling of psychiatric disordersA genetic model for neurodevelopmental diseaseCopy number variants in obesity-related syndromes: review and perspectives on novel molecular approachesCNVs: harbingers of a rare variant revolution in psychiatric geneticsHuman molecular cytogenetics: From cells to nucleotidesDosage compensation of the sex chromosomesUncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletionsCopy number variations and strokeThe 15q11.2 BP1-BP2 microdeletion syndrome: a reviewPaternal age effect mutations and selfish spermatogonial selection: causes and consequences for human diseaseStructures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disabilityRecurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.The Danish 22q11 research initiativeVariations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populationsA family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutationsA copy number variation morbidity map of developmental delayCopy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders.Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridizationA novel approach for identifying causal models of complex diseases from family dataDiagnostic interpretation of array data using public databases and internet sources.Copy number variants in candidate genes are genetic modifiers of Hirschsprung diseaseWhole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q.Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case.Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsiesTesticular sex cord-stromal tumor in a boy with 2q37 deletion syndrome.Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.Characterising and predicting haploinsufficiency in the human genome.
P2860
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P2860
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A recurrent 16p12.1 microdelet ...... or severe developmental delay.
@ast
A recurrent 16p12.1 microdelet ...... or severe developmental delay.
@en
type
label
A recurrent 16p12.1 microdelet ...... or severe developmental delay.
@ast
A recurrent 16p12.1 microdelet ...... or severe developmental delay.
@en
prefLabel
A recurrent 16p12.1 microdelet ...... or severe developmental delay.
@ast
A recurrent 16p12.1 microdelet ...... or severe developmental delay.
@en
P2093
P2860
P50
P356
P1433
P1476
A recurrent 16p12.1 microdelet ...... or severe developmental delay.
@en
P2093
Alexander Asamoah
Alisha Biser
Andy Itsara
Beatrice N French
Bhuwan P Garg
Blake C Ballif
Bonnie Salbert
Carl Baker
Cindy Hudson
Darren M Farber
P2860
P2888
P304
P356
10.1038/NG.534
P407
P50
P577
2010-02-14T00:00:00Z