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Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDHChromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactylyNew Insights into Congenital Diaphragmatic Hernia - A Surgeon's Introduction to CDH Animal Models.First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotypeSequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic herniaExpression of the Wilm's tumor gene WT1 during diaphragmatic development in the nitrofen model for congenital diaphragmatic hernia.Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patientGenetic aspects of human congenital diaphragmatic hernia.Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes.Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic herniaGenetic causes of congenital diaphragmatic herniaRecurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemiaGenomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic herniaMatthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.Mechanisms of tissue fusion during development.Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.Molecular genetics of congenital diaphragmatic defects.Roundabout receptors are critical for foregut separation from the body wall.Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.Pre- and Postnatal Analysis of Chromosome 15q26.1 and 8p23.1 Deletions in Congenital Diaphragmatic Hernia.Linking animal models to human congenital diaphragmatic hernia.Kif7 is required for the patterning and differentiation of the diaphragm in a model of syndromic congenital diaphragmatic hernia.De novo copy number variants are associated with congenital diaphragmatic hernia.Can we improve outcome of congenital diaphragmatic hernia?Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch.Regulation of the pulmonary circulation in the fetus and newborn.Biology of FGFRL1, the fifth fibroblast growth factor receptor.Developmental and genetic aspects of congenital diaphragmatic hernia.Family-based studies to identify genetic variants that cause congenital heart defects.Pulmonary vascular development goes awry in congenital lung abnormalities.MicroRNAs: pleiotropic players in congenital heart disease and regeneration.Maternal periconceptional exposure to cigarette smoking and alcohol consumption and congenital diaphragmatic hernia.Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias.Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts.Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Decreased expression of GATA4 in the diaphragm of nitrofen-induced congenital diaphragmatic hernia.The role of primary myogenic regulatory factors in the developing diaphragmatic muscle in the nitrofen-induced diaphragmatic hernia.
P2860
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P2860
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Genetic factors in congenital diaphragmatic hernia.
@ast
Genetic factors in congenital diaphragmatic hernia.
@en
type
label
Genetic factors in congenital diaphragmatic hernia.
@ast
Genetic factors in congenital diaphragmatic hernia.
@en
prefLabel
Genetic factors in congenital diaphragmatic hernia.
@ast
Genetic factors in congenital diaphragmatic hernia.
@en
P2093
P2860
P356
P1476
Genetic factors in congenital diaphragmatic hernia.
@en
P2093
P2860
P304
P356
10.1086/513442
P407
P577
2007-04-04T00:00:00Z