Spinner NB - Search Results

1

Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study.

Kamath BM, Ye W, Goodrich NP, Loomes KM, Romero R, Heubi JE, Leung DH, Spinner NB, Piccoli DA, Alonso EM, Guthery SL, Karpen SJ, Mack CL, Molleston JP, Murray KF, Rosenthal P, Squires JE, Teckman J, Wang KS, Thompson R, Magee JC, Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN). Kamath BM, et al. Among authors: spinner nb. Hepatol Commun. 2020 Jan 22;4(3):387-398. doi: 10.1002/hep4.1468. eCollection 2020 Mar. Hepatol Commun. 2020. PMID: 33313463 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. Among authors: spinner nb. 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. Am J Hum Genet. 1994 Aug;55(2):238-43. Am J Hum Genet. 1994. PMID: 8037203 Free PMC article.

4

Alagille syndrome.

Krantz ID, Piccoli DA, Spinner NB. Krantz ID, et al. Among authors: spinner nb. J Med Genet. 1997 Feb;34(2):152-7. doi: 10.1136/jmg.34.2.152. J Med Genet. 1997. PMID: 9039994 Free PMC article. Review.

5

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: spinner nb. Am J Med Genet. 1997 May 2;70(1):80-6. Am J Med Genet. 1997. PMID: 9129746

6

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: spinner nb. Nat Genet. 1997 Jul;16(3):243-51. doi: 10.1038/ng0797-243. Nat Genet. 1997. PMID: 9207788

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: spinner nb. 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: spinner nb. Hepatology. 1999 Mar;29(3):822-9. doi: 10.1002/hep.510290331. Hepatology. 1999. PMID: 10051485

9

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. Krantz ID, et al. Among authors: spinner nb. Am J Med Genet. 1999 May 7;84(1):56-60. Am J Med Genet. 1999. PMID: 10213047

10

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. Loomes KM, et al. Among authors: spinner nb. Hum Mol Genet. 1999 Dec;8(13):2443-9. doi: 10.1093/hmg/8.13.2443. Hum Mol Genet. 1999. PMID: 10556292

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