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Items: 10

1.

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB.

Am J Hum Genet. 2006 Jul;79(1):169-73. Epub 2006 May 10.

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. doi: 10.1038/nrneph.2013.102. Epub 2013 Jun 11. Review.

PMID:
23752887
3.

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
4.

[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
5.

Alagille syndrome and the Jagged1 gene.

Piccoli DA, Spinner NB.

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

PMID:
11745040
6.

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.

7.

Arteriohepatic dysplasia (Alagille syndrome; Watson-Alagille syndrome).

MacMillan JC, Shepherd R, Heritage M.

Baillieres Clin Gastroenterol. 1998 Jun;12(2):275-91. Review.

PMID:
9890073
8.

Alagille, Notch, and robustness: why duplicating systems does not ensure redundancy.

Kopan R, Chen S, Liu Z.

Pediatr Nephrol. 2014 Apr;29(4):651-7. doi: 10.1007/s00467-013-2661-y. Epub 2013 Nov 24. Review.

9.

Notch signaling in skeletal health and disease.

Zanotti S, Canalis E.

Eur J Endocrinol. 2013 May 8;168(6):R95-103. doi: 10.1530/EJE-13-0115. Print 2013 Jun. Review.

10.

Hajdu-Cheney syndrome: a review.

Canalis E, Zanotti S.

Orphanet J Rare Dis. 2014 Dec 10;9:200. doi: 10.1186/s13023-014-0200-y. Review.

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