179 related articles for article (PubMed ID: 25737299)
1. 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]
2. 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]
3. 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]
4. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
Marchetti D; Iascone MR; Pezzoli L
Hum Genet; 2009 Aug; 126(2):344. PubMed ID: 19694036
[No Abstract] [Full Text] [Related]
5. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
Marchetti D; Iascone MR; Pezzoli L
Hum Genet; 2009 Aug; 126(2):347-8. PubMed ID: 19694049
[No Abstract] [Full Text] [Related]
6. Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.
Samejima H; Torii C; Kosaki R; Kurosawa K; Yoshihashi H; Muroya K; Okamoto N; Watanabe Y; Kosho T; Kubota M; Matsuda O; Goto M; Izumi K; Takahashi T; Kosaki K
Genet Test; 2007; 11(3):216-27. PubMed ID: 17949281
[TBL] [Abstract][Full Text] [Related]
7. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
Marchetti D; Iascone MR; Pezzoli L
Hum Genet; 2009 Aug; 126(2):350. PubMed ID: 19694055
[No Abstract] [Full Text] [Related]
8. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
Marchetti D; Iascone MR; Pezzoli L
Hum Genet; 2009 Aug; 126(2):345-6. PubMed ID: 19694044
[No Abstract] [Full Text] [Related]
9. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
Marchetti D; Iascone MR; Pezzoli L
Hum Genet; 2009 Aug; 126(2):344-5. PubMed ID: 19694039
[No Abstract] [Full Text] [Related]
10. 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]
11. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
Marchetti D; Iascone MR; Pezzoli L
Hum Genet; 2009 Aug; 126(2):346. PubMed ID: 19694046
[No Abstract] [Full Text] [Related]
12. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
Marchetti D; Iascone MR; Pezzoli L
Hum Genet; 2009 Aug; 126(2):347. PubMed ID: 19694048
[No Abstract] [Full Text] [Related]
13. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
Marchetti D; Iascone MR; Pezzoli L
Hum Genet; 2009 Aug; 126(2):345. PubMed ID: 19694043
[No Abstract] [Full Text] [Related]
14. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
Marchetti D; Iascone MR; Pezzoli L
Hum Genet; 2009 Aug; 126(2):350-1. PubMed ID: 19694056
[No Abstract] [Full Text] [Related]
15. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
Marchetti D; Iascone MR; Pezzoli L
Hum Genet; 2009 Aug; 126(2):349-50. PubMed ID: 19694054
[No Abstract] [Full Text] [Related]
16. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
Marchetti D; Iascone MR; Pezzoli L
Hum Genet; 2009 Aug; 126(2):349. PubMed ID: 19694053
[No Abstract] [Full Text] [Related]
17. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
Marchetti D; Iascone MR; Pezzoli L
Hum Genet; 2009 Aug; 126(2):348. PubMed ID: 19694051
[No Abstract] [Full Text] [Related]
18. A novel JAG1 mutation in a patient with Alagille's syndrome.
Wang Y; Yu Y; Wang J; Tsuei SH; Zaho L; Fu Q
Pathology; 2010; 42(5):496-8. PubMed ID: 20632836
[No Abstract] [Full Text] [Related]
19. 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]
20. Gene symbol: JAG1. Disease: Alagille syndrome.
Conidi ME; Michelucci A; Maggiore G; Simi P
Hum Genet; 2008 Oct; 124(3):322. PubMed ID: 18846681
[No Abstract] [Full Text] [Related]
[Next] [New Search]