Rand EB - Search Results

1

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, Nassur JA, Rand EB, Krock BL, Kamath BM, Krantz ID, Piccoli DA, Loomes KM, Spinner NB. Gilbert MA, et al. Among authors: rand eb. Hum Mutat. 2019 Dec;40(12):2197-2220. doi: 10.1002/humu.23879. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31343788 Free PMC article.

2

Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.

Rand EB, Spinner NB, Piccoli DA, Whitington PF, Taub R. Rand EB, et al. Am J Hum Genet. 1995 Nov;57(5):1068-73. Am J Hum Genet. 1995. PMID: 7485156 Free PMC article.

3

Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.

Spinner NB, Rand EB, Fortina P, Genin A, Taub R, Semeraro A, Piccoli DA. Spinner NB, et al. Among authors: rand eb. Am J Hum Genet. 1994 Aug;55(2):238-43. Am J Hum Genet. 1994. PMID: 8037203 Free PMC article.

4

Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization.

Krantz ID, Rand EB, Genin A, Hunt P, Jones M, Louis AA, Graham JM Jr, Bhatt S, Piccoli DA, Spinner NB. Krantz ID, et al. Among authors: rand eb. Am J Med Genet. 1997 May 2;70(1):80-6. Am J Med Genet. 1997. PMID: 9129746

5

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.

Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB. Li L, et al. Among authors: rand eb. Nat Genet. 1997 Jul;16(3):243-51. doi: 10.1038/ng0797-243. Nat Genet. 1997. PMID: 9207788

6

The genetic basis of the Alagille syndrome.

Rand EB. Rand EB. J Pediatr Gastroenterol Nutr. 1998 Feb;26(2):234-6. doi: 10.1097/00005176-199802000-00024. J Pediatr Gastroenterol Nutr. 1998. PMID: 9481647 Review. No abstract available.

7

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. Krantz ID, et al. Among authors: rand eb. Am J Hum Genet. 1998 Jun;62(6):1361-9. doi: 10.1086/301875. Am J Hum Genet. 1998. PMID: 9585603 Free PMC article.

8

Features of Alagille syndrome in 92 patients: frequency and relation to prognosis.

Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA. Emerick KM, et al. Among authors: rand eb. Hepatology. 1999 Mar;29(3):822-9. doi: 10.1002/hep.510290331. Hepatology. 1999. PMID: 10051485

9

Biliary atresia associated with a fatty acid oxidation defect.

Matthews RP, Russo P, Berry GT, Piccoli DA, Rand EB. Matthews RP, et al. Among authors: rand eb. J Pediatr Gastroenterol Nutr. 2002 Nov;35(5):624-8. doi: 10.1097/00005176-200211000-00007. J Pediatr Gastroenterol Nutr. 2002. PMID: 12454576 No abstract available.

10

Relief of intractable pruritus in Alagille syndrome by partial external biliary diversion.

Mattei P, von Allmen D, Piccoli D, Rand E. Mattei P, et al. J Pediatr Surg. 2006 Jan;41(1):104-7; discussion 104-7. doi: 10.1016/j.jpedsurg.2005.10.014. J Pediatr Surg. 2006. PMID: 16410117

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