Spinner NB - Search Results

1

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.

Leyva-Vega M, Gerfen J, Thiel BD, Jurkiewicz D, Rand EB, Pawlowska J, Kaminska D, Russo P, Gai X, Krantz ID, Kamath BM, Hakonarson H, Haber BA, Spinner NB. Leyva-Vega M, et al. Among authors: spinner nb. Am J Med Genet A. 2010 Apr;152A(4):886-95. doi: 10.1002/ajmg.a.33332. Am J Med Genet A. 2010. PMID: 20358598 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

Holoprosencephaly in a newborn girl with 46,XX,i(18q).

Spinner NB, Eunpu DL, Austria JR, Mamunes P. Spinner NB, et al. Am J Med Genet. 1991 Apr 1;39(1):11-2. doi: 10.1002/ajmg.1320390104. Am J Med Genet. 1991. PMID: 1867253

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

Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

Pellegrino JE, Schnur RE, Kline R, Zackai EH, Spinner NB. Pellegrino JE, et al. Among authors: spinner nb. Hum Genet. 1995 Oct;96(4):485-9. doi: 10.1007/BF00191813. Hum Genet. 1995. PMID: 7557977

6

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

7

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

8

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.

9

De novo interstitial deletion of the long arm of chromosome 3: 46,XX,del(3)(q25.1q26.1).

Robin NH, Magnusson M, McDonald-McGinn D, Zackai EH, Spinner NB. Robin NH, et al. Among authors: spinner nb. Clin Genet. 1993 Dec;44(6):335-7. doi: 10.1111/j.1399-0004.1993.tb03911.x. Clin Genet. 1993. PMID: 8131307

10

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

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