330 related articles for article (PubMed ID: 22209762)
1. 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]
2. 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]
3. 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]
4. 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]
5. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.
McDaniell R; Warthen DM; Sanchez-Lara PA; Pai A; Krantz ID; Piccoli DA; Spinner NB
Am J Hum Genet; 2006 Jul; 79(1):169-73. PubMed ID: 16773578
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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; 82(1):33-40. PubMed ID: 21752016
[TBL] [Abstract][Full Text] [Related]
8. Renal involvement and the role of Notch signalling in Alagille syndrome.
Kamath BM; Spinner NB; Rosenblum ND
Nat Rev Nephrol; 2013 Jul; 9(7):409-18. PubMed ID: 23752887
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.
Jurkiewicz D; Gliwicz D; Ciara E; Gerfen J; Pelc M; Piekutowska-Abramczuk D; Kugaudo M; Chrzanowska K; Spinner NB; Krajewska-Walasek M
J Appl Genet; 2014 Aug; 55(3):329-36. PubMed ID: 24748328
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency.
McCright B; Lozier J; Gridley T
Development; 2002 Feb; 129(4):1075-82. PubMed ID: 11861489
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Alagille syndrome: understanding the genotype-phenotype relationship and its potential therapeutic impact.
Halma J; Lin HC
Expert Rev Gastroenterol Hepatol; 2023; 17(9):883-892. PubMed ID: 37668532
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Two Novel Mutations in the
Prochazková D; Borská R; Fajkusová L; Konečná P; Hloušková E; Pavlovský Z; Slabý O; Pospíšilová Š
Diagnostics (Basel); 2021 May; 11(6):. PubMed ID: 34071626
[TBL] [Abstract][Full Text] [Related]
20. Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.
Krantz ID; Colliton RP; Genin A; Rand EB; Li L; Piccoli DA; Spinner NB
Am J Hum Genet; 1998 Jun; 62(6):1361-9. PubMed ID: 9585603
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
