about
Alagille syndrome: clinical perspectivesKick it up a notch: Notch signaling and kidney fibrosisOf mice and men: molecular genetics of congenital heart diseaseRole of Notch signaling in the mammalian heartNeonatal Cholestasis - Differential Diagnoses, Current Diagnostic Procedures, and TreatmentNotch signaling in human development and diseaseJagged1 (JAG1): Structure, expression, and disease associationsMicroarray data reveal relationship between Jag1 and Ddr1 in mouse liver.Turn It Down a NotchNovel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome.Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties.Embryonic Development of the Bicuspid Aortic Valve.Prioritization of neurodevelopmental disease genes by discovery of new mutations.Spectrum of JAG1 gene mutations in Polish patients with Alagille syndromePathological fracture of the femur in Alagille syndrome that was treated with low-intensity pulsed ultrasound stimulation and an Ilizarov ring fixator: a case report.Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variantsIndividual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population.Notch signaling in skeletal health and disease.JAGGED1 gene variations in Chinese twin sisters with Alagille syndrome.Notch1 and Notch2 in Podocytes Play Differential Roles During Diabetic Nephropathy DevelopmentPancreatic insufficiency is not a prevalent problem in Alagille syndromeMutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos diseaseNotch Signaling and the Skeleton.Oncogenic role of the Notch pathway in primary liver cancer.The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.Renal involvement and the role of Notch signalling in Alagille syndrome.Alagille, Notch, and robustness: why duplicating systems does not ensure redundancy.Genetic, environmental, and epigenetic factors involved in CAKUT.The complex role of NOTCH receptors and their ligands in the development of hepatoblastoma, cholangiocarcinoma and hepatocellular carcinoma.Morphogenesis of liver epithelial cells.Mapping Sites of O-Glycosylation and Fringe Elongation on Drosophila Notch.Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation.The Varied Roles of Notch in Cancer.Clinical utility gene card for: Alagille Syndrome (ALGS)Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.Development of a Novel Tool to Assess the Impact of Itching in Pediatric Cholestasis.Alagille syndrome: Genetics and Functional Models.Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.An Atypical Presentation of Alagille Syndrome.
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
NOTCH2 mutations in Alagille syndrome.
@en
NOTCH2 mutations in Alagille syndrome.
@nl
type
label
NOTCH2 mutations in Alagille syndrome.
@en
NOTCH2 mutations in Alagille syndrome.
@nl
prefLabel
NOTCH2 mutations in Alagille syndrome.
@en
NOTCH2 mutations in Alagille syndrome.
@nl
P2093
P2860
P1476
NOTCH2 mutations in Alagille syndrome.
@en
P2093
Anne Hutchinson
Binita Maya Kamath
David A Piccoli
Grace Chao
Ian D Krantz
Jennifer Gerfen
Kathleen M Loomes
Laura Leonard
Nancy Bettina Spinner
Pablo Lapunzina
P2860
P304
P356
10.1136/JMEDGENET-2011-100544
P407
P577
2011-12-29T00:00:00Z