245 related articles for article (PubMed ID: 22488849)
1. 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]
2. 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]
3. JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.
Li L; Dong J; Wang X; Guo H; Wang H; Zhao J; Qiu Y; Abuduxikuer K; Wang J
PLoS One; 2015; 10(6):e0130355. PubMed ID: 26076142
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Jagged-1 mutation analysis in Italian Alagille syndrome patients.
Pilia G; Uda M; Macis D; Frau F; Crisponi L; Balli F; Barbera C; Colombo C; Frediani T; Gatti R; Iorio R; Marazzi MG; Marcellini M; Musumeci S; Nebbia G; Vajro P; Ruffa G; Zancan L; Cao A; DeVirgilis S
Hum Mutat; 1999; 14(5):394-400. PubMed ID: 10533065
[TBL] [Abstract][Full Text] [Related]
6. Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome.
Tada M; Itoh S; Ishii-Watabe A; Suzuki T; Kawasaki N
FEBS J; 2012 Jun; 279(12):2096-107. PubMed ID: 22487239
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1.
El-Rassy I; Bou-Abdallah J; Al-Ghadban S; Bitar F; Nemer G
Am J Med Genet A; 2008 Apr; 146A(7):937-9. PubMed ID: 18266235
[No Abstract] [Full Text] [Related]
11. 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]
12. Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
Colliton RP; Bason L; Lu FM; Piccoli DA; Krantz ID; Spinner NB
Hum Mutat; 2001 Feb; 17(2):151-2. PubMed ID: 11180599
[TBL] [Abstract][Full Text] [Related]
13. Renal anomalies in Alagille syndrome: a disease-defining feature.
Kamath BM; Podkameni G; Hutchinson AL; Leonard LD; Gerfen J; Krantz ID; Piccoli DA; Spinner NB; Loomes KM; Meyers K
Am J Med Genet A; 2012 Jan; 158A(1):85-9. PubMed ID: 22105858
[TBL] [Abstract][Full Text] [Related]
14. Clinical utility gene card for: Alagille Syndrome (ALGS).
Leonard LD; Chao G; Baker A; Loomes K; Spinner NB
Eur J Hum Genet; 2014 Mar; 22(3):. PubMed ID: 23881058
[No Abstract] [Full Text] [Related]
15. Analysis of JAG1 gene variant in Chinese patients with Alagille syndrome.
Wang H; Wang X; Li Q; Chen S; Liu L; Wei Z; Wang L; Liu Y; Zhao X; He L; Wang J; Xing Q
Gene; 2012 May; 499(1):191-3. PubMed ID: 22405927
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.
Jurkiewicz D; Popowska E; Gläser C; Hansmann I; Krajewska-Walasek M
Hum Mutat; 2005 Mar; 25(3):321. PubMed ID: 15712272
[TBL] [Abstract][Full Text] [Related]
20. Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.
Grochowski CM; Rajagopalan R; Falsey AM; Loomes KM; Piccoli DA; Krantz ID; Devoto M; Spinner NB
Am J Med Genet A; 2015 Apr; 167A(4):891-3. PubMed ID: 25737299
[No Abstract] [Full Text] [Related]
[Next] [New Search]