Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia
about
Developments in our understanding of the genetic basis of birth defectsWhole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic herniaA new scenario of the evolutionary derivation of the mammalian diaphragm from shoulder musclesMolecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.Genetic causes of congenital diaphragmatic herniaRare variants detection with kernel machine learning based on likelihood ratio test.Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.Decreased expression of hepatocyte growth factor in the nitrofen model of congenital diaphragmatic hernia.GATA factors in endocrine neoplasiaFamilial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report.Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity.Development of the diaphragm -- a skeletal muscle essential for mammalian respiration.Progress and challenges in the computational prediction of gene function using networks: 2012-2013 updateCandidate gene prioritization with Endeavour.Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies.Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias.Congenital diaphragmatic hernias: from genes to mechanisms to therapies.PBX transcription factors drive pulmonary vascular adaptation to birth.Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia.Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia.The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia.Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.Sac-Type Congenital Diaphragmatic Hernia: A Case Report of Two Siblingsvariant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development
P2860
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P2860
Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia
description
2012 nî lūn-bûn
@nan
2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Variants in GATA4 are a rare c ...... ongenital diaphragmatic hernia
@ast
Variants in GATA4 are a rare c ...... ongenital diaphragmatic hernia
@en
Variants in GATA4 are a rare c ...... ongenital diaphragmatic hernia
@nl
type
label
Variants in GATA4 are a rare c ...... ongenital diaphragmatic hernia
@ast
Variants in GATA4 are a rare c ...... ongenital diaphragmatic hernia
@en
Variants in GATA4 are a rare c ...... ongenital diaphragmatic hernia
@nl
prefLabel
Variants in GATA4 are a rare c ...... ongenital diaphragmatic hernia
@ast
Variants in GATA4 are a rare c ...... ongenital diaphragmatic hernia
@en
Variants in GATA4 are a rare c ...... ongenital diaphragmatic hernia
@nl
P2093
P2860
P1433
P1476
Variants in GATA4 are a rare c ...... ongenital diaphragmatic hernia
@en
P2093
Brad W Warner
Brian Bucher
Charles Stolar
Dai H Chung
Douglas Potoka
Foong Yen Lim
George B Mychaliska
Julia Wynn
Kenneth S Azarow
P2860
P2888
P304
P356
10.1007/S00439-012-1249-0
P577
2012-11-09T00:00:00Z
P6179
1037654449