Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. - Wikidata - awgldk - TriplyDB

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients.

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients.

http://www.wikidata.org/entity/Q34612125

about

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1 Haploinsufficiency of TAB2 causes congenital heart defects in humans 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 Of mice and men: molecular genetics of congenital heart disease Collaboratively charting the gene-to-phenotype network of human congenital heart defects Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate.Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data A male with unilateral microphthalmia reveals a role for TMX3 in eye development Rare de novo copy number variants in patients with congenital pulmonary atresia.Chromosome microarray analysis in the investigation of children with congenital heart disease.Molecular genetics of congenital atrial septal defects Complex genetics and the etiology of human congenital heart disease.The importance of copy number variation in congenital heart disease Genetic basis of congenital cardiovascular malformations Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease.MLPA for confirmation of array CGH results and determination of inheritance.Rare copy number variants contribute to congenital left-sided heart disease.Contribution of rare copy number variants to isolated human malformations.Guidelines for molecular karyotyping in constitutional genetic diagnosis.Patterns of cardiac and extracardiac anomalies in adults with tetralogy of fallot.Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield Investigation of copy number variation in children with conotruncal heart defects.Tetralogy of Fallot and Hypoplastic Left Heart Syndrome - Complex Clinical Phenotypes Meet Complex Genetic Networks Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population New perspectives for the elucidation of genetic disorders Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.Association Between DSCR1 Variations and Congenital Heart Disease Susceptibility.Transcriptional Impact of Rare and Private Copy Number Variants in Hypoplastic Left Heart Syndrome Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities History of Our Understanding of the Causes of Congenital Heart Disease.The Congenital Heart Disease Genetic Network Study: rationale, design, and early results.Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation."FISHed" out the diagnosis: A case of DiGeorge syndrome.Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.Silencing of TBX20 gene expression in rat myocardial and human embryonic kidney cells leads to cell cycle arrest in G2 phase De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with Tetralogy of Fallot.

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P2860

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients.

http://www.wikidata.org/entity/Q34612125

description

2007 nî lūn-bûn

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2007 թուականի Մարտին հրատարակուած գիտական յօդուած

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2007 թվականի մարտին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

Submicroscopic chromosomal imb ...... defects in selected patients.

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Submicroscopic chromosomal imb ...... defects in selected patients.

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Submicroscopic chromosomal imb ...... defects in selected patients.

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Submicroscopic chromosomal imb ...... defects in selected patients.

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Submicroscopic chromosomal imb ...... defects in selected patients.

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Submicroscopic chromosomal imb ...... defects in selected patients.

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P356

P1433

European Heart Journal

P1476

Submicroscopic chromosomal imb ...... defects in selected patients.

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P2093

Benedicte Eyskens

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Derize Boshoff

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Jean-Pierre Fryns

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Joris R Vermeesch

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Koen Devriendt

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Luc Mertens

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Nicole Maas

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Thomy de Ravel

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2778-2784

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scholarly article

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10.1093/EURHEARTJ/EHL560

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22

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28

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Bernard Thienpont

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2007-03-23T00:00:00Z

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6423627

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17384091

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