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Results: 1 to 20 of 173

1.

Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome.

Kamath BM, Loomes KM, Oakey RJ, Krantz ID.

Am J Med Genet. 2002 Oct 1;112(2):171-5.

PMID:
12244551
[PubMed - indexed for MEDLINE]
2.

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. Review.

PMID:
11232356
[PubMed - indexed for MEDLINE]
3.

JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome.

Crosnier C, AttiƩ-Bitach T, Encha-Razavi F, Audollent S, Soudy F, Hadchouel M, Meunier-Rotival M, Vekemans M.

Hepatology. 2000 Sep;32(3):574-81.

PMID:
10960452
[PubMed - indexed for MEDLINE]
4.

Alagille syndrome and the Jagged1 gene.

Piccoli DA, Spinner NB.

Semin Liver Dis. 2001 Nov;21(4):525-34. Review.

PMID:
11745040
[PubMed - indexed for MEDLINE]
5.

Clinical and molecular genetics of Alagille syndrome.

Krantz ID, Piccoli DA, Spinner NB.

Curr Opin Pediatr. 1999 Dec;11(6):558-64. Review.

PMID:
10590916
[PubMed - indexed for MEDLINE]
6.

Craniosynostosis in Alagille syndrome.

Kamath BM, Stolle C, Bason L, Colliton RP, Piccoli DA, Spinner NB, Krantz ID.

Am J Med Genet. 2002 Oct 1;112(2):176-80.

PMID:
12244552
[PubMed - indexed for MEDLINE]
7.

Jagged1 mutations in patients ascertained with isolated congenital heart defects.

Krantz ID, Smith R, Colliton RP, Tinkel H, Zackai EH, Piccoli DA, Goldmuntz E, Spinner NB.

Am J Med Genet. 1999 May 7;84(1):56-60.

PMID:
10213047
[PubMed - indexed for MEDLINE]
8.

Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality.

Kamath BM, Spinner NB, Emerick KM, Chudley AE, Booth C, Piccoli DA, Krantz ID.

Circulation. 2004 Mar 23;109(11):1354-8. Epub 2004 Mar 1. Review.

PMID:
14993126
[PubMed - indexed for MEDLINE]
Free Article
9.

Alagille syndrome.

Hadchouel M.

Indian J Pediatr. 2002 Sep;69(9):815-8. Review.

PMID:
12420916
[PubMed - indexed for MEDLINE]
10.

Facial features in Alagille syndrome: specific or cholestasis facies?

Kamath BM, Loomes KM, Oakey RJ, Emerick KE, Conversano T, Spinner NB, Piccoli DA, Krantz ID.

Am J Med Genet. 2002 Oct 1;112(2):163-70.

PMID:
12244550
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
9585603
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Alagille syndrome.

Krantz ID, Piccoli DA, Spinner NB.

J Med Genet. 1997 Feb;34(2):152-7. Review.

PMID:
9039994
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Proliferation to paucity: evolution of bile duct abnormalities in a case of Alagille syndrome.

Deutsch GH, Sokol RJ, Stathos TH, Knisely AS.

Pediatr Dev Pathol. 2001 Nov-Dec;4(6):559-63.

PMID:
11826362
[PubMed - indexed for MEDLINE]
14.

Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome.

Raas-Rothschild A, Shteyer E, Lerer I, Nir A, Granot E, Rein AJ.

Am J Med Genet. 2002 Sep 15;112(1):75-8.

PMID:
12239725
[PubMed - indexed for MEDLINE]
15.

Consequences of JAG1 mutations.

Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB.

J Med Genet. 2003 Dec;40(12):891-5.

PMID:
14684686
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

[From gene to disease: arteriohepatic dysplasia or Alagille syndrome].

Brooks AS, Dooijes D.

Ned Tijdschr Geneeskd. 2003 Jun 21;147(25):1213-5. Review. Dutch.

PMID:
12848056
[PubMed - indexed for MEDLINE]
17.

The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome.

Loomes KM, Underkoffler LA, Morabito J, Gottlieb S, Piccoli DA, Spinner NB, Baldwin HS, Oakey RJ.

Hum Mol Genet. 1999 Dec;8(13):2443-9.

PMID:
10556292
[PubMed - indexed for MEDLINE]
Free Article
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. doi: 10.1111/j.1399-0004.2011.01749.x. Epub 2011 Jul 31.

PMID:
21752016
[PubMed - indexed for MEDLINE]
19.

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.

Crosnier C, Driancourt C, Raynaud N, Dhorne-Pollet S, Pollet N, Bernard O, Hadchouel M, Meunier-Rotival M.

Gastroenterology. 1999 May;116(5):1141-8.

PMID:
10220506
[PubMed - indexed for MEDLINE]
20.

A Chinese girl molecularly diagnosed with Alagille syndrome.

Li FB, Chen J, Yu JD, Gao H, Qi M.

World J Pediatr. 2010 Aug;6(3):278-80. doi: 10.1007/s12519-010-0226-8. Epub 2010 Aug 13.

PMID:
20706826
[PubMed - indexed for MEDLINE]

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