Spinner NB - Search Results

1

Facial features in Alagille syndrome: specific or cholestasis facies?

Kamath BM, Loomes KM, Oakey RJ, Emerick KE, Conversano T, Spinner NB, Piccoli DA, Krantz ID. Kamath BM, et al. Among authors: spinner nb. Am J Med Genet. 2002 Oct 1;112(2):163-70. doi: 10.1002/ajmg.10579. Am J Med Genet. 2002. PMID: 12244550

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

Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13.

Spinner NB, Zackai E, Cheng SD, Knoll JH. Spinner NB, et al. Am J Med Genet. 1995 May 22;57(1):61-5. doi: 10.1002/ajmg.1320570114. Am J Med Genet. 1995. PMID: 7645601

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

Duplication 9q34-->qter identified by chromosome painting.

Spinner NB, Lucas JN, Poggensee M, Jacquette M, Schneider A. Spinner NB, et al. Am J Med Genet. 1993 Mar 1;45(5):609-13. doi: 10.1002/ajmg.1320450519. Am J Med Genet. 1993. PMID: 8456834

8

46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridization.

Spinner NB, Biegel JA, Sovinsky L, McDonald-McGinn D, Rehberg K, Parmiter AH, Zackai EH. Spinner NB, et al. Am J Med Genet. 1993 Apr 1;46(1):95-7. doi: 10.1002/ajmg.1320460116. Am J Med Genet. 1993. PMID: 8494037 Review.

9

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.

10

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

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