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Journal Abstract Search

140 related items for PubMed ID: 31522744

  • 1. A novel JAG1 mutation causing Alagille syndrome presenting with giant hepatic nodules and discordant phenotype in monozygotic twins.
    Zhang Y, Xiang B, Yu X.
    Med Clin (Barc); 2020 Dec 11; 155(11):507-509. PubMed ID: 31522744
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  • 3. JAG1 loss‑of‑function mutations contributed to Alagille syndrome in two Chinese families.
    Zhang E, Xu Y, Yu Y, Chen S, Yu Y, Sun K.
    Mol Med Rep; 2018 Aug 11; 18(2):2356-2364. PubMed ID: 29956768
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  • 4. Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors.
    Izumi K, Hayashi D, Grochowski CM, Kubota N, Nishi E, Arakawa M, Hiroma T, Hatata T, Ogiso Y, Nakamura T, Falsey AM, Hidaka E, Spinner NB.
    Am J Med Genet A; 2016 Feb 11; 170A(2):471-475. PubMed ID: 26463753
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  • 8. A novel JAG1 frameshift variant causing Alagille syndrome with incomplete penetrance.
    Yang Y, Wang H.
    Clin Biochem; 2022 Jun 11; 104():19-21. PubMed ID: 35151641
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  • 10. Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.
    Cho JM, Oh SH, Kim HJ, Kim JS, Kim KM, Kim GH, Yu E, Lee BH, Yoo HW.
    Pediatr Int; 2015 Aug 11; 57(4):552-7. PubMed ID: 25676721
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  • 11. Alagille Syndrome.
    Mitchell E, Gilbert M, Loomes KM.
    Clin Liver Dis; 2018 Nov 11; 22(4):625-641. PubMed ID: 30266153
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  • 12. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome.
    McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, Goldmuntz E.
    Circulation; 2002 Nov 12; 106(20):2567-74. PubMed ID: 12427653
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  • 13. Alagille Syndrome Mimicking Biliary Atresia in Early Infancy.
    Dědič T, Jirsa M, Keil R, Rygl M, Šnajdauf J, Kotalová R.
    PLoS One; 2015 Nov 12; 10(11):e0143939. PubMed ID: 26618708
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  • 14. Genetic Diagnosis in an Indian Child with Alagille Syndrome.
    Agrawal S, Chennuri V, Agrawal P.
    Indian J Pediatr; 2015 Jul 12; 82(7):653-4. PubMed ID: 25596152
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  • 15. Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi032-A) carrying a heterozygous mutation (p.Cys682Leufs*7) in the JAG1 gene.
    Hatim O, Pavlinov I, Xu M, Linask K, Beers J, Liu C, Baumgärtel K, Gilbert M, Spinner N, Chen C, Zou J, Zheng W.
    Stem Cell Res; 2023 Dec 12; 73():103231. PubMed ID: 37890331
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  • 16. Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.
    Ohashi K, Togawa T, Sugiura T, Ito K, Endo T, Aoyama K, Negishi Y, Kudo T, Ito R, Saitoh S.
    Acta Paediatr; 2017 Nov 12; 106(11):1817-1824. PubMed ID: 28695677
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  • 17. Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1.
    Li D, Sheppard SE, Peroutka C, Barnes C, Reid JR, Smith CL, Dori Y, Hakonarson H.
    Clin Genet; 2021 May 12; 99(5):742-743. PubMed ID: 33433009
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  • 18. JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.
    Guegan K, Stals K, Day M, Turnpenny P, Ellard S.
    Clin Genet; 2012 Jul 12; 82(1):33-40. PubMed ID: 21752016
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  • 19. Hepatobiliary and Pancreatic: Hepatic arterioportal fistula: A novel and treatable feature of Alagille syndrome.
    Lopez RN, Al Rawahi Y, Stormon M, Chennapragada M, Ooi CY.
    J Gastroenterol Hepatol; 2019 Apr 12; 34(4):633. PubMed ID: 30565330
    [No Abstract] [Full Text] [Related]

  • 20. Generation of JAG1 gene c.1615C > T heterozygous mutation human embryonic stem cell line (SDQLCHe001-A) using cytosine base editor.
    Li Y, Wan Z, Wang B, Zhang H, Guan J, Yang X, Jin X, Ma X, Liu Y.
    Stem Cell Res; 2023 Aug 12; 70():103120. PubMed ID: 37245339
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