Genetic Conditions > Alagille syndrome >

References

These sources were used to develop the Genetics Home Reference condition summary on Alagille syndrome.

Boyer-Di Ponio J, Wright-Crosnier C, Groyer-Picard MT, Driancourt C, Beau I, Hadchouel M, Meunier-Rotival M. Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling. Hum Mol Genet. 2007 Nov 15;16(22):2683-92. Epub 2007 Aug 24. PubMed citation
Gene Review: Alagille Syndrome
Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB. Consequences of JAG1 mutations. J Med Genet. 2003 Dec;40(12):891-5. PubMed citation
Kim BJ, Fulton AB. The genetics and ocular findings of Alagille syndrome. Semin Ophthalmol. 2007 Oct-Dec;22(4):205-10. Review. PubMed citation
McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet. 2006 Jul;79(1):169-73. Epub 2006 May 10. PubMed citation
OMIM: ALAGILLE SYNDROME 1
Piccoli DA, Spinner NB. Alagille syndrome and the Jagged1 gene. Semin Liver Dis. 2001 Nov;21(4):525-34. Review. PubMed citation
Spinner NB, Colliton RP, Crosnier C, Krantz ID, Hadchouel M, Meunier-Rotival M. Jagged1 mutations in alagille syndrome. Hum Mutat. 2001;17(1):18-33. Review. PubMed citation
Suskind DL, Murray KF. Increasing the mutation rate for Jagged1 mutations in patients with Alagille syndrome. Hepatology. 2007 Aug;46(2):598-9. PubMed citation
Warthen DM, Moore EC, Kamath BM, Morrissette JJ, Sanchez-Lara PA, Piccoli DA, Krantz ID, Spinner NB. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Hum Mutat. 2006 May;27(5):436-43. Erratum in: Hum Mutat. 2013 Feb;34(2):408. Sanchez, P [corrected to Sanchez-Lara, P A]. PubMed citation


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