Spinner NB - Search Results

1

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

2

Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9.

Morrissette JJ, Laufer-Cahana A, Medne L, Russell KL, Venditti CP, Kline R, Zackai EH, Spinner NB. Morrissette JJ, et al. Among authors: spinner nb. Am J Med Genet A. 2003 Dec 15;123A(3):279-84. doi: 10.1002/ajmg.a.20293. Am J Med Genet A. 2003. PMID: 14608650

3

Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies.

Venditti CP, Hunt P, Donnenfeld A, Zackai E, Spinner NB. Venditti CP, et al. Among authors: spinner nb. Am J Med Genet A. 2004 Jan 30;124A(3):274-9. doi: 10.1002/ajmg.a.20430. Am J Med Genet A. 2004. PMID: 14708100

4

A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage.

Morrissette JJ, Medne L, Bentley T, Owens NL, Geiger E, Pipan M, Zackai EH, Shaikh T, Spinner NB. Morrissette JJ, et al. Among authors: spinner nb. Am J Med Genet A. 2005 Aug 30;137(2):208-12. doi: 10.1002/ajmg.a.30845. Am J Med Genet A. 2005. PMID: 16082706

5

DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother.

DeBerardinis RJ, Medne L, Spinner NB, Zackai EH. DeBerardinis RJ, et al. Among authors: spinner nb. Am J Med Genet A. 2005 Oct 1;138A(2):155-9. doi: 10.1002/ajmg.a.30913. Am J Med Genet A. 2005. PMID: 16114050

6

A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.

Haldeman-Englert CR, Chapman KA, Kruger H, Geiger EA, McDonald-McGinn DM, Rappaport E, Zackai EH, Spinner NB, Shaikh TH. Haldeman-Englert CR, et al. Among authors: spinner nb. Am J Med Genet A. 2010 Jan;152A(1):196-202. doi: 10.1002/ajmg.a.33176. Am J Med Genet A. 2010. PMID: 20034085 Free PMC article.

7

High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

Callen DF, Eyre H, Lane S, Shen Y, Hansmann I, Spinner N, Zackai E, McDonald-McGinn D, Schuffenhauer S, Wauters J, et al. Callen DF, et al. J Med Genet. 1993 Oct;30(10):828-32. doi: 10.1136/jmg.30.10.828. J Med Genet. 1993. PMID: 8230159 Free PMC article.

8

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

9

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

10

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

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