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Results: 10

1.

Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.

Bauer RC, Laney AO, Smith R, Gerfen J, Morrissette JJ, Woyciechowski S, Garbarini J, Loomes KM, Krantz ID, Urban Z, Gelb BD, Goldmuntz E, Spinner NB.

Hum Mutat. 2010 May;31(5):594-601. doi: 10.1002/humu.21231.

PMID:
20437614
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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]
3.

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]
4.

Functional role of Notch signaling in the developing and postnatal heart.

Nemir M, Pedrazzini T.

J Mol Cell Cardiol. 2008 Oct;45(4):495-504. doi: 10.1016/j.yjmcc.2008.02.273. Epub 2008 Mar 10. Review.

PMID:
18410944
[PubMed - indexed for MEDLINE]
5.

Jagged1 mutations in alagille syndrome.

Spinner NB, Colliton RP, Crosnier C, Krantz ID, Hadchouel M, Meunier-Rotival M.

Hum Mutat. 2001;17(1):18-33. Review.

PMID:
11139239
[PubMed - indexed for MEDLINE]
6.

[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]
7.

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]
8.

Notch signaling in human development and disease.

Penton AL, Leonard LD, Spinner NB.

Semin Cell Dev Biol. 2012 Jun;23(4):450-7. doi: 10.1016/j.semcdb.2012.01.010. Epub 2012 Jan 28. Review.

PMID:
22306179
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

The genetics and ocular findings of Alagille syndrome.

Kim BJ, Fulton AB.

Semin Ophthalmol. 2007 Oct-Dec;22(4):205-10. Review.

PMID:
18097983
[PubMed - indexed for MEDLINE]
10.

Alagille syndrome: pathogenesis, diagnosis and management.

Turnpenny PD, Ellard S.

Eur J Hum Genet. 2012 Mar;20(3):251-7. doi: 10.1038/ejhg.2011.181. Epub 2011 Sep 21. Review.

PMID:
21934706
[PubMed - indexed for MEDLINE]
Free PMC Article

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