Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia
about
Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes.Genetic causes of congenital diaphragmatic herniaMetabolic disturbances of the vitamin A pathway in human diaphragmatic herniaPrevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.Wt1 and β-catenin cooperatively regulate diaphragm development in the mouse.Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.De novo copy number variants are associated with congenital diaphragmatic hernia.Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy.Congenital Diaphragmatic hernia - a review.Genomic microarrays: a technology overview.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.Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Corticothalamic Projection Neuron Development beyond Subtype Specification: Fog2 and Intersectional Controls Regulate Intraclass Neuronal Diversity.Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients.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.Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report.Discordant Anomalies with Combined Features of Pentalogy of Cantrell and OEIS Complex: A Case Report in Monochorionic Twins.HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.
P2860
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P2860
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Genomic alterations that contr ...... ongenital diaphragmatic hernia
@ast
Genomic alterations that contr ...... ongenital diaphragmatic hernia
@en
type
label
Genomic alterations that contr ...... ongenital diaphragmatic hernia
@ast
Genomic alterations that contr ...... ongenital diaphragmatic hernia
@en
prefLabel
Genomic alterations that contr ...... ongenital diaphragmatic hernia
@ast
Genomic alterations that contr ...... ongenital diaphragmatic hernia
@en
P2093
P2860
P356
P1476
Genomic alterations that contr ...... ongenital diaphragmatic hernia
@en
P2093
Anne Slavotinek
Annelies de Klein
Anthony Johnson
Ashley M Holder
Caraciolo J Fernandes
Danielle Veenma
Daryl A Scott
Jacob Hogue
Jeanette J Wat
Katherine A Rauen
P2860
P304
P356
10.1136/JMG.2011.089680
P407
P50
P577
2011-05-01T00:00:00Z