A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. - Wikidata - awgldk - TriplyDB

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

http://www.wikidata.org/entity/Q33763087

about

Genome-wide copy number analysis uncovers a new HSCR gene: NRG3 Understanding the impact of 1q21.1 copy number variant Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 Identification of de novo mutations and rare variants in hypoplastic left heart syndrome Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls Autism risk factors: genes, environment, and gene-environment interactions CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1 Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants Following the genes: a framework for animal modeling of psychiatric disorders A genetic model for neurodevelopmental disease Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches CNVs: harbingers of a rare variant revolution in psychiatric genetics Human molecular cytogenetics: From cells to nucleotides Dosage compensation of the sex chromosomes Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions Copy number variations and stroke The 15q11.2 BP1-BP2 microdeletion syndrome: a review Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease Structures 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 disability Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.The Danish 22q11 research initiative Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations A copy number variation morbidity map of developmental delay Copy 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 hybridization A novel approach for identifying causal models of complex diseases from family data Diagnostic interpretation of array data using public databases and internet sources.Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease Whole-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 epilepsies Testicular 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.

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P2860

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

http://www.wikidata.org/entity/Q33763087

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

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2010年論文

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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.

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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

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Nature Genetics

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A recurrent 16p12.1 microdelet ...... or severe developmental delay.

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P2093

Alexander Asamoah

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Alisha Biser

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Andy Itsara

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Beatrice N French

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Bhuwan P Garg

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Blake C Ballif

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Bonnie Salbert

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Carl Baker

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Cindy Hudson

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Darren M Farber

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P2860

Mapping and sequencing of structural variation from eight human genomes

Rare chromosomal deletions and duplications increase risk of schizophrenia

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

Strong association of de novo copy number mutations with autism

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Large recurrent microdeletions associated with schizophrenia

The cardiofaciocutaneous syndrome

Evolutionary toggling of the MAPT 17q21.31 inversion region

Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis

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203-209

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10.1038/NG.534

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3

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42

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Jeffrey M. Kidd

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Sharon Browning

Mary-Claire King

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2010-02-14T00:00:00Z

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41429069

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20154674

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