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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 18, 2025. (Total: 235441Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Alagille Syndrome and NOTCH2[original query]
Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.
Acta paediatrica (Oslo, Norway : 1992) 2017 Jul .
Ohashi Kei, Togawa Takao, Sugiura Tokio, Ito Koichi, Endo Takeshi, Aoyama Kohei, Negishi Yutaka, Kudo Toyoichiro, Ito Reiko, Saitoh Shin
THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome. GWAS Catalog
Cellular and molecular gastroenterology and hepatology 2016 Sep 2 (5): 663-675.e2.
Tsai Ellen A, Gilbert Melissa A, Grochowski Christopher M, Underkoffler Lara A, Meng He, Zhang Xiaojie, Wang Michael M, Shitaye Hailu, Hankenson Kurt D, Piccoli David, Lin Henry, Kamath Binita M, Devoto Marcella, Spinner Nancy B, Loomes Kathleen
Alagille Syndrome.
Clinics in liver disease 2018 9 22 (4): 625-641.
Mitchell Ellen, Gilbert Melissa, Loomes Kathleen
Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology.
Human mutation 2018 10 40 (1): 25-30.
Patiño Liliana C, Beau Isabelle, Morel Adrien, Delemer Brigitte, Young Jacques, Binart Nadine, Laissue Pa
Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.
Liver international : official journal of the International Association for the Study of the Liver 2022 5 42 (8): 1836-1848.
Li Zhong-Die, Abuduxikuer Kuerbanjiang, Wang Li, Hao Chen-Zhi, Zhang Jing, Wang Meng-Xuan, Li Li-Ting, Qiu Yi-Ling, Xie Xin-Bao, Lu Yi, Wang Jian-S
Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.
International journal of molecular sciences 2023 7 24 (14): .
Natalia Semenova, Elena Kamenets, Eleonora Annenkova, Andrey Marakhonov, Elena Gusarova, Nina Demina, Daria Guseva, Inga Anisimova, Anna Degtyareva, Natalia Taran, Tatiana Strokova, Ekaterina Zakharo
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
American journal of medical genetics. Part A 2023 3 .
Sok Pagna, Sabo Aniko, Almli Lynn M, Jenkins Mary M, Nembhard Wendy N, Agopian A J, Bamshad Michael J, Blue Elizabeth E, Brody Lawrence C, Brown Austin L, Browne Marilyn L, Canfield Mark A, Carmichael Suzan L, Chong Jessica X, Dugan-Perez Shannon, Feldkamp Marcia L, Finnell Richard H, Gibbs Richard A, Kay Denise M, Lei Yunping, Meng Qingchang, Moore Cynthia A, Mullikin James C, Muzny Donna, Olshan Andrew F, Pangilinan Faith, Reefhuis Jennita, Romitti Paul A, Schraw Jeremy M, Shaw Gary M, Werler Martha M, Harpavat Sanjiv, Lupo Philip J,
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