358 related articles for article (PubMed ID: 30266153)
1. 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]
2. 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]
3. 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]
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. 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]
6. 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]
7. 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]
8. Alagille Syndrome: Current Understanding of Pathogenesis, and Challenges in Diagnosis and Management.
Ayoub MD; Kamath BM
Clin Liver Dis; 2022 Aug; 26(3):355-370. PubMed ID: 35868679
[TBL] [Abstract][Full Text] [Related]
9. Alagille Syndrome: An Overview.
Jesina D
Neonatal Netw; 2017 Nov; 36(6):343-347. PubMed ID: 29185945
[TBL] [Abstract][Full Text] [Related]
10. 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]
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. 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]
13. An Atypical Presentation of Alagille Syndrome.
Wu KY; Treece AL; Russo PA; Wen JW
Pediatr Dev Pathol; 2018; 21(1):79-83. PubMed ID: 29187043
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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; 106(11):1817-1824. PubMed ID: 28695677
[TBL] [Abstract][Full Text] [Related]
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; 82(1):33-40. PubMed ID: 21752016
[TBL] [Abstract][Full Text] [Related]
19. Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome.
Ponikowska M; Pollak A; Kotwica-Strzalek E; Brodowska-Kania D; Mosakowska M; Ploski R; Niemczyk S
BMC Med Genet; 2020 Oct; 21(1):195. PubMed ID: 33008311
[TBL] [Abstract][Full Text] [Related]
20. Medical management of Alagille syndrome.
Kamath BM; Loomes KM; Piccoli DA
J Pediatr Gastroenterol Nutr; 2010 Jun; 50(6):580-6. PubMed ID: 20479679
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]