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What Is New in Genetics of Congenital Heart Defects?Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndromeHaploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesHeterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver SyndromeIdentification of copy number variants in whole-genome data using Reference Coverage Profiles.Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.O-GlcNAc on NOTCH1 EGF repeats regulates ligand-induced Notch signaling and vascular development in mammalsNOTCH 1 Mutation in a Patient with Spontaneous and Recurrent Dissections of Extracranial Arteries.Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome.Rare variants in neuronal excitability genes influence risk for bipolar disorder.Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart DiseaseDiagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care.Notch Signaling and the Skeleton.HES factors regulate specific aspects of chondrogenesis and chondrocyte hypertrophy during cartilage developmentNetwork-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic DiseaseFast detection of deletion breakpoints using quantitative PCRNotch signal integration in the vasculature during remodelingThe multiple roles of epidermal growth factor repeat O-glycans in animal development.Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases.The role of Notch signaling in the mammalian ovary.Mapping Sites of O-Glycosylation and Fringe Elongation on Drosophila Notch.Notch signaling in lung diseases: focus on Notch1 and Notch3.Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development.Notch Signaling in Vascular Smooth Muscle Cells.EOGT and O-GlcNAc on secreted and membrane proteins.The Varied Roles of Notch in Cancer.Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt.Endothelial notch signaling is essential to prevent hepatic vascular malformations in miceTransgenerational cardiology: One way to a baby's heart is through the mother.Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.A non-canonical Notch complex regulates adherens junctions and vascular barrier function.Genetic analysis of very obese children with autism spectrum disorder.A Case of Adams-Oliver Syndrome.Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.Congenital heart defects in molecularly proven Kabuki syndrome patients.Taking Systems Medicine to Heart.DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.Loss of Notch2 and Notch3 in vascular smooth muscle causes patent ductus arteriosus.Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway.Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
P2860
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P2860
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Mutations in NOTCH1 cause Adams-Oliver syndrome
@ast
Mutations in NOTCH1 cause Adams-Oliver syndrome
@en
Mutations in NOTCH1 cause Adams-Oliver syndrome
@nl
type
label
Mutations in NOTCH1 cause Adams-Oliver syndrome
@ast
Mutations in NOTCH1 cause Adams-Oliver syndrome
@en
Mutations in NOTCH1 cause Adams-Oliver syndrome
@nl
prefLabel
Mutations in NOTCH1 cause Adams-Oliver syndrome
@ast
Mutations in NOTCH1 cause Adams-Oliver syndrome
@en
Mutations in NOTCH1 cause Adams-Oliver syndrome
@nl
P2093
P2860
P50
P3181
P1476
Mutations in NOTCH1 cause Adams-Oliver syndrome
@en
P2093
Alina Khromykh
Anna-Barbara Stittrich
Benjamin D Solomon
Dale L Bodian
Eyby L Leon
Jared C Roach
Joanne Dixon
John E Niederhuber
Joseph G Vockley
P2860
P304
P3181
P356
10.1016/J.AJHG.2014.07.011
P407
P50
P577
2014-09-04T00:00:00Z