DeScipio C - Search Results

1

The iddm4 locus segregates with diabetes susceptibility in congenic WF.iddm4 rats.

Mordes JP, Leif J, Novak S, DeScipio C, Greiner DL, Blankenhorn EP. Mordes JP, et al. Among authors: descipio c. Diabetes. 2002 Nov;51(11):3254-62. doi: 10.2337/diabetes.51.11.3254. Diabetes. 2002. PMID: 12401717 Free PMC article.

2

Comparative mapping of rat Iddm4 to segments on HSA7 and MMU6.

Hornum L, DeScipio C, Markholst H, Troutman SA, Novak S, Leif J, Greiner D, Mordes JP, Blankenhorn EP. Hornum L, et al. Among authors: descipio c. Mamm Genome. 2004 Jan;15(1):53-61. doi: 10.1007/s00335-003-3023-z. Mamm Genome. 2004. PMID: 14727142

3

Refinement of the Iddm4 diabetes susceptibility locus reveals TCRVbeta4 as a candidate gene.

Blankenhorn EP, Descipio C, Rodemich L, Cort L, Leif JH, Greiner DL, Mordes JP. Blankenhorn EP, et al. Among authors: descipio c. Ann N Y Acad Sci. 2007 Apr;1103:128-31. doi: 10.1196/annals.1394.020. Epub 2007 Mar 21. Ann N Y Acad Sci. 2007. PMID: 17376830

4

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. Gillis LA, et al. Among authors: descipio c. Am J Hum Genet. 2004 Oct;75(4):610-23. doi: 10.1086/424698. Epub 2004 Aug 18. Am J Hum Genet. 2004. PMID: 15318302 Free PMC article.

5

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. Krantz ID, et al. Among authors: descipio c. Nat Genet. 2004 Jun;36(6):631-5. doi: 10.1038/ng1364. Epub 2004 May 16. Nat Genet. 2004. PMID: 15146186 Free PMC article.

6

Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.

DeScipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, Krantz ID. DeScipio C, et al. Am J Med Genet A. 2005 Sep 1;137A(3):276-82. doi: 10.1002/ajmg.a.30857. Am J Med Genet A. 2005. PMID: 16075459 Free PMC article. Review.

7

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.

Kaur M, DeScipio C, McCallum J, Yaeger D, Devoto M, Jackson LG, Spinner NB, Krantz ID. Kaur M, et al. Among authors: descipio c. Am J Med Genet A. 2005 Sep 15;138(1):27-31. doi: 10.1002/ajmg.a.30919. Am J Med Genet A. 2005. PMID: 16100726 Free PMC article.

8

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID. Descipio C, et al. Am J Med Genet A. 2005 Apr 1;134A(1):3-11. doi: 10.1002/ajmg.a.30573. Am J Med Genet A. 2005. PMID: 15704124 Review.

9

Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20.

Descipio C, Morrissette JD, Conlin LK, Clark D, Kaur M, Coplan J, Riethman H, Spinner NB, Krantz ID. Descipio C, et al. Am J Med Genet A. 2010 Feb;152A(2):373-82. doi: 10.1002/ajmg.a.33219. Am J Med Genet A. 2010. PMID: 20101690 Free PMC article.

10

Update on "two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20".

Descipio C, Morrissette JD, Conlin LK, Clark D, Kaur M, Coplan J, Riethman H, Spinner NB, Krantz ID. Descipio C, et al. Am J Med Genet A. 2010 Jun;152A(6):1599. doi: 10.1002/ajmg.a.33390. Am J Med Genet A. 2010. PMID: 20503345 No abstract available.

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