Spinner NB - Search Results

1

Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB. Kamath BM, et al. Among authors: spinner nb. J Med Genet. 2003 Dec;40(12):891-5. doi: 10.1136/jmg.40.12.891. J Med Genet. 2003. PMID: 14684686 Free PMC article.

2

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.

Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MC, et al. Driscoll DA, et al. Among authors: spinner nb. Am J Med Genet. 1992 Sep 15;44(2):261-8. doi: 10.1002/ajmg.1320440237. Am J Med Genet. 1992. PMID: 1360769

3

Frequency of the common fragile site at Xq27.2 under conditions of thymidylate stress: implications for cytogenetic diagnosis of the fragile-X syndrome.

Ramos FJ, Emanuel BS, Spinner NB. Ramos FJ, et al. Among authors: spinner nb. Am J Med Genet. 1992 Apr 1;42(6):835-8. doi: 10.1002/ajmg.1320420618. Am J Med Genet. 1992. PMID: 1532475

4

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.

5

Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism.

Spinner NB, Grace KR, Owens NL, Sovinsky L, Pellegrino JE, McDonald-McGinn D, Zackai E. Spinner NB, et al. Am J Med Genet. 1995 Mar 13;56(1):22-4. doi: 10.1002/ajmg.1320560107. Am J Med Genet. 1995. PMID: 7747780

6

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.

7

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.

8

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

9

Mutations in the human Jagged1 gene are responsible for Alagille syndrome.

Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC. Oda T, et al. Among authors: spinner nb. Nat Genet. 1997 Jul;16(3):235-42. doi: 10.1038/ng0797-235. Nat Genet. 1997. PMID: 9207787

10

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

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