about
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosisAlagille syndrome: pathogenesis, diagnosis and managementAlagille syndrome: clinical perspectivesCholestasis beyond the Neonatal and Infancy PeriodsModeling congenital disease and inborn errors of development in Drosophila melanogasterNotch signaling in human development and diseaseJagged1 (JAG1): Structure, expression, and disease associationsEarly life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndromePathologic lower extremity fractures in children with Alagille syndrome.Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population.Alagille Syndrome Mimicking Biliary Atresia in Early Infancy.CT-defined phenotype of pulmonary artery stenoses in Alagille syndrome.New Genetic Insights into Congenital Heart Disease.Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single centerAn autosomal recessive form of Alagille-like syndrome that is not linked to JAG1.Congenital cholestatic syndromes: what happens when children grow up?A longitudinal study to identify laboratory predictors of liver disease outcome in Alagille syndrome.Biliary disease in children.Renal involvement and the role of Notch signalling in Alagille syndrome.NOTCH2 mutations in Alagille syndrome.Hypertension and Biliary Ductopenia in a Patient with Duplication of Exon 6 of the JAG1 GeneGenetic interactions between hepatocyte nuclear factor-6 and Notch signaling regulate mouse intrahepatic bile duct development in vivo.Clinical utility gene card for: Alagille Syndrome (ALGS)A faithful JAGGED1 haploinsufficiency mouse model of arteriohepatic dysplasia (Alagille syndrome) after all.Human hepatic organoids for the analysis of human genetic diseases.JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.Development of a Novel Tool to Assess the Impact of Itching in Pediatric Cholestasis.Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the Alagille syndrome hepatic phenotype.Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.Renal anomalies in Alagille syndrome: a disease-defining feature.Imaging findings of Alagille syndrome in young infants: differentiation from biliary atresiaAlagille syndrome: experience of a tertiary care center in North India
P2860
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P2860
description
2003 nî lūn-bûn
@nan
2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Consequences of JAG1 mutations.
@ast
Consequences of JAG1 mutations.
@en
Consequences of JAG1 mutations.
@nl
type
label
Consequences of JAG1 mutations.
@ast
Consequences of JAG1 mutations.
@en
Consequences of JAG1 mutations.
@nl
prefLabel
Consequences of JAG1 mutations.
@ast
Consequences of JAG1 mutations.
@en
Consequences of JAG1 mutations.
@nl
P2093
P2860
P356
P1476
Consequences of JAG1 mutations.
@en
P2093
B M Kamath
D A Piccoli
I D Krantz
N B Spinner
P2860
P304
P356
10.1136/JMG.40.12.891
P407
P577
2003-12-01T00:00:00Z