463 related articles for article (PubMed ID: 21934706)
1. 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]
2. 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]
3. An autosomal recessive form of Alagille-like syndrome that is not linked to JAG1.
Dyack S; Cameron M; Otley A; Greer W
Genet Med; 2007 Aug; 9(8):544-50. PubMed ID: 17700393
[TBL] [Abstract][Full Text] [Related]
4. Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors.
Izumi K; Hayashi D; Grochowski CM; Kubota N; Nishi E; Arakawa M; Hiroma T; Hatata T; Ogiso Y; Nakamura T; Falsey AM; Hidaka E; Spinner NB
Am J Med Genet A; 2016 Feb; 170A(2):471-475. PubMed ID: 26463753
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Alagille syndrome: an overview.
Vajro P; Ferrante L; Paolella G
Clin Res Hepatol Gastroenterol; 2012 Jun; 36(3):275-7. PubMed ID: 22521120
[TBL] [Abstract][Full Text] [Related]
7. [Advances in the diagnosis and treatment of Alagille syndrome].
Ma YL; Song YZ
Zhongguo Dang Dai Er Ke Za Zhi; 2014 Nov; 16(11):1188-92. PubMed ID: 25406571
[TBL] [Abstract][Full Text] [Related]
8. Alagille syndrome. The widening spectrum of arteriohepatic dysplasia.
Crosnier C; Lykavieris P; Meunier-Rotival M; Hadchouel M
Clin Liver Dis; 2000 Nov; 4(4):765-78. PubMed ID: 11232356
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. The genetics and ocular findings of Alagille syndrome.
Kim BJ; Fulton AB
Semin Ophthalmol; 2007; 22(4):205-10. PubMed ID: 18097983
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Bile Ducts in Regenerative Liver Nodules of Alagille Patients Are Not the Result of Genetic Mosaicism.
Rougemont AL; Alvarez F; McLin VA; Guiochon-Mantel A; Bouligand J; Clément S; Tonson La Tour A; Wildhaber BE; Rubbia-Brandt L; Sartelet H
J Pediatr Gastroenterol Nutr; 2015 Jul; 61(1):91-3. PubMed ID: 25643021
[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. 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]
15. 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]
16. Alagille syndrome with a previously undescribed mutation.
Bhatia V; Kumar P
Indian Pediatr; 2014 Apr; 51(4):314-6. PubMed ID: 24825276
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. [From gene to disease: arteriohepatic dysplasia or Alagille syndrome].
Brooks AS; Dooijes D
Ned Tijdschr Geneeskd; 2003 Jun; 147(25):1213-5. PubMed ID: 12848056
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
