BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

251 related articles for article (PubMed ID: 33369123)

  • 1. Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes.
    Schindler EA; Gilbert MA; Piccoli DA; Spinner NB; Krantz ID; Loomes KM
    Am J Med Genet A; 2021 Mar; 185(3):719-731. PubMed ID: 33369123
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report.
    Uddin MS; Al Fulayyih S; Al Denaini FF; Al Hatlani MM
    Am J Case Rep; 2022 Oct; 23():e935840. PubMed ID: 36201396
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
    Gilbert MA; Bauer RC; Rajagopalan R; Grochowski CM; Chao G; McEldrew D; Nassur JA; Rand EB; Krock BL; Kamath BM; Krantz ID; Piccoli DA; Loomes KM; Spinner NB
    Hum Mutat; 2019 Dec; 40(12):2197-2220. PubMed ID: 31343788
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.
    Lin HC; Le Hoang P; Hutchinson A; Chao G; Gerfen J; Loomes KM; Krantz I; Kamath BM; Spinner NB
    Am J Med Genet A; 2012 May; 158A(5):1005-13. PubMed ID: 22488849
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations.
    Andersson ER; Chivukula IV; Hankeova S; Sjöqvist M; Tsoi YL; Ramsköld D; Masek J; Elmansuri A; Hoogendoorn A; Vazquez E; Storvall H; Netušilová J; Huch M; Fischler B; Ellis E; Contreras A; Nemeth A; Chien KC; Clevers H; Sandberg R; Bryja V; Lendahl U
    Gastroenterology; 2018 Mar; 154(4):1080-1095. PubMed ID: 29162437
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Alagille Syndrome.
    Mitchell E; Gilbert M; Loomes KM
    Clin Liver Dis; 2018 Nov; 22(4):625-641. PubMed ID: 30266153
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Alagille syndrome caused by NOTCH2 mutation presented atypical pathological changes.
    ShenTu Y; Mi X; Tang D; Jiang Y; Gao L; Ma X; Zhou B; Yang W; Shi J; Lan D; Chen G; Gong L
    Clin Chim Acta; 2021 Oct; 521():258-263. PubMed ID: 34332988
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Alagille syndrome: an uncommon cause of intrahepatic cholestasis in adults.
    Zhang W; Zhao X; Huang J; Ou X; Jia J
    Rev Esp Enferm Dig; 2019 Apr; 111(4):323-326. PubMed ID: 30746957
    [TBL] [Abstract][Full Text] [Related]  

  • 9. NOTCH2 mutations in Alagille syndrome.
    Kamath BM; Bauer RC; Loomes KM; Chao G; Gerfen J; Hutchinson A; Hardikar W; Hirschfield G; Jara P; Krantz ID; Lapunzina P; Leonard L; Ling S; Ng VL; Hoang PL; Piccoli DA; Spinner NB
    J Med Genet; 2012 Feb; 49(2):138-44. PubMed ID: 22209762
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 57(4):552-7. PubMed ID: 25676721
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.
    Semenova N; Kamenets E; Annenkova E; Marakhonov A; Gusarova E; Demina N; Guseva D; Anisimova I; Degtyareva A; Taran N; Strokova T; Zakharova E
    Int J Mol Sci; 2023 Jul; 24(14):. PubMed ID: 37511516
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Sox9 Is a Modifier of the Liver Disease Severity in a Mouse Model of Alagille Syndrome.
    Adams JM; Huppert KA; Castro EC; Lopez MF; Niknejad N; Subramanian S; Zarrin-Khameh N; Finegold MJ; Huppert SS; Jafar-Nejad H
    Hepatology; 2020 Apr; 71(4):1331-1349. PubMed ID: 31469182
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment.
    Kohut TJ; Gilbert MA; Loomes KM
    Semin Liver Dis; 2021 Nov; 41(4):525-537. PubMed ID: 34215014
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Generation of an induced pluripotent stem cell line (TRNDi031-A) from a patient with Alagille syndrome type 1 carrying a heterozygous p. C312X (c. 936 T > A) mutation in JAGGED-1.
    Brooks BM; Pradhan M; Cheng YS; Gorshkov K; Farkhondeh A; Chen CZ; Beers J; Liu C; Baumgaertel K; Rodems S; Zheng W
    Stem Cell Res; 2021 Jul; 54():102447. PubMed ID: 34198154
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 73():103231. PubMed ID: 37890331
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Generation of iPSC line NCHi012-A from a patient with Alagille syndrome and heterozygous pathogenic variant in the JAG1 gene.
    Cunningham D; Stanberry I; Ye S; Alonzo M; Zhao MT; Garg V; Lilly B
    Stem Cell Res; 2023 Sep; 71():103177. PubMed ID: 37549562
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.
    Li ZD; Abuduxikuer K; Wang L; Hao CZ; Zhang J; Wang MX; Li LT; Qiu YL; Xie XB; Lu Y; Wang JS
    Liver Int; 2022 Aug; 42(8):1836-1848. PubMed ID: 35567760
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Characterization of an induced pluripotent stem cell line NCHi011-A from a 23-year-old female with Alagille Syndrome harboring a heterozygous JAG1 pathogenic variant.
    Stanberry I; Cunningham D; Ye S; Alonzo M; Zhao MT; Garg V; Lilly B
    Stem Cell Res; 2023 Oct; 72():103213. PubMed ID: 37774637
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Alagille syndrome: pathogenesis, diagnosis and management.
    Turnpenny PD; Ellard S
    Eur J Hum Genet; 2012 Mar; 20(3):251-7. PubMed ID: 21934706
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Generation of Alagille syndrome derived induced pluripotent stem cell line carrying heterozygous mutation in the JAGGED-1 gene at splicing site (Chr20: 10,629,709C>A) before exon 11.
    Zhu W; Cheng YS; Xu M; Farkhondeh A; Beers J; Zou J; Liu C; Baumgaertel K; Rodems S; Zheng W
    Stem Cell Res; 2021 May; 53():102366. PubMed ID: 34087995
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.