De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. - Wikidata - wikimedia - TriplyDB

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

http://www.wikidata.org/entity/Q37353964

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Understanding the impact of 1q21.1 copy number variant New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality.Evolutionary history and genome organization of DUF1220 protein domains The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges Cytogenomic Aberrations in Congenital Cardiovascular Malformations Genetic Evaluation and Use of Chromosome Microarray in Patients with Isolated Heart Defects: Benefits and Challenges of a New Model in Cardiovascular Care Array comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta-analysis Congenital heart disease: emerging themes linking genetics and development Genetics of congenital heart disease: the glass half empty Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics Of mice and men: molecular genetics of congenital heart disease What Is New in Genetics of Congenital Heart Defects?Notch signaling in human development and disease The clustering of functionally related genes contributes to CNV-mediated disease Collaboratively charting the gene-to-phenotype network of human congenital heart defects Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot A copy number variation morbidity map of developmental delay Genetics and Genomics of Congenital Heart Disease.Cardiac neural crest orchestrates remodeling and functional maturation of mouse semilunar valves.Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes Identification of copy number variations and common deletion polymorphisms in cattle.Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies Rare de novo copy number variants in patients with congenital pulmonary atresia.Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.Decoding the complex genetic causes of heart diseases using systems biology Chromosome microarray analysis in the investigation of children with congenital heart disease.Embryonic Development of the Bicuspid Aortic Valve.Recent advances in understanding the genetics of congenital heart defects.Complex genetics and the etiology of human congenital heart disease.The importance of copy number variation in congenital heart disease Novel missense variants of ZFPM2/FOG2 identified in conotruncal heart defect patients do not impair interaction with GATA4.Genomics, intellectual disability, and autism Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.Role of glycans and glycosyltransferases in the regulation of Notch signaling Association between reduced copy-number at T-cell receptor gamma (TCRgamma) and childhood allergic asthma: A possible role for somatic mosaicism.

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De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

http://www.wikidata.org/entity/Q37353964

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 13 July 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

De novo copy number variants i ...... sporadic tetralogy of Fallot.

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De novo copy number variants i ...... sporadic tetralogy of Fallot.

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type

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De novo copy number variants i ...... sporadic tetralogy of Fallot.

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De novo copy number variants i ...... sporadic tetralogy of Fallot.

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De novo copy number variants i ...... d sporadic tetralogy of Fallot

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De novo copy number variants i ...... sporadic tetralogy of Fallot.

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De novo copy number variants i ...... sporadic tetralogy of Fallot.

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Nature Genetics

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De novo copy number variants i ...... sporadic tetralogy of Fallot.

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Alexandre C Pereira

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Christine E Seidman

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Emel Ergul

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Jennifer C Lin

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Jessie H Conta

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Jonathan G Seidman

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Joshua M Gorham

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Joshua M Korn

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Maria Alexandra Artunduaga

http://www.w3.org/2001/XMLSchema#string

Maria de Lourdes Quintanilla-Dieck

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P2860

Rare chromosomal deletions and duplications increase risk of schizophrenia

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

Role of TBX1 in human del22q11.2 syndrome

Mutations in NOTCH1 cause aortic valve disease

Congenital heart disease caused by mutations in the transcription factor NKX2-5

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families

Strong association of de novo copy number mutations with autism

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931-935

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scholarly article

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10.1038/NG.415

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8

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41

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David A. Hafler

David Altshuler

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2009-07-13T00:00:00Z

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26666143

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