Associated Papers
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Feng X et al.
Scientific Reports, 2024
38245625 (PubMed )
Supplement: 41598_2024_52357_MOESM1_ESM.xlsx › Sheet1
Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.
França MM et al.
Journal of the Endocrine Society, 2020
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Gilbert MA et al.
Human Mutation, 2019
[Target gene sequence capture and next generation sequencing technology to diagnose four children with Alagille syndrome].
Gao ML et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2016
Frequency and distribution of Notch mutations in tumor cell lines.
Mutvei AP et al.
Bmc Cancer, 2015
25907971 (PubMed )
Supplement: 12885_2015_1278_MOESM2_ESM.xlsx › suppdatagrejen
Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.
Lin HC et al.
American Journal of Medical Genetics. Part A, 2012
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