Shaw CA - Search Results

1

Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.

Ben-Shachar S, Chahrour M, Thaller C, Shaw CA, Zoghbi HY. Ben-Shachar S, et al. Among authors: shaw ca. Hum Mol Genet. 2009 Jul 1;18(13):2431-42. doi: 10.1093/hmg/ddp181. Epub 2009 Apr 15. Hum Mol Genet. 2009. PMID: 19369296 Free PMC article.

2

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG. Yu W, et al. Among authors: shaw ca. Hum Mol Genet. 2003 Sep 1;12(17):2145-52. doi: 10.1093/hmg/ddg230. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915473

3

Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions.

Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG. Ballif BC, et al. Among authors: shaw ca. Hum Mol Genet. 2003 Sep 1;12(17):2153-65. doi: 10.1093/hmg/ddg231. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915474

4

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.

Shaw CJ, Stankiewicz P, Bien-Willner G, Bello SC, Shaw CA, Carrera M, Perez Jurado L, Estivill X, Lupski JR. Shaw CJ, et al. Among authors: shaw ca. Hum Genet. 2004 Jun;115(1):1-7. doi: 10.1007/s00439-004-1119-5. Epub 2004 Apr 20. Hum Genet. 2004. PMID: 15098121

5

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.

Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B. Hermanns P, et al. Hum Mol Genet. 2005 Dec 1;14(23):3723-40. doi: 10.1093/hmg/ddi403. Epub 2005 Oct 27. Hum Mol Genet. 2005. PMID: 16254002

6

A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.

Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY. Lim J, et al. Cell. 2006 May 19;125(4):801-14. doi: 10.1016/j.cell.2006.03.032. Cell. 2006. PMID: 16713569 Free article.

7

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.

Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR. Lee JA, et al. Among authors: shaw ca. Hum Mol Genet. 2006 Jul 15;15(14):2250-65. doi: 10.1093/hmg/ddl150. Epub 2006 Jun 14. Hum Mol Genet. 2006. PMID: 16774974

8

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.

Ou Z, Jarmuz M, Sparagana SP, Michaud J, Décarie JC, Yatsenko SA, Nowakowska B, Furman P, Shaw CA, Shaffer LG, Lupski JR, Chinault AC, Cheung SW, Stankiewicz P. Ou Z, et al. Among authors: shaw ca. Hum Genet. 2006 Sep;120(2):227-37. doi: 10.1007/s00439-006-0200-7. Epub 2006 Jun 22. Hum Genet. 2006. PMID: 16791615

9

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. Potocki L, et al. Am J Hum Genet. 2007 Apr;80(4):633-49. doi: 10.1086/512864. Epub 2007 Feb 26. Am J Hum Genet. 2007. PMID: 17357070 Free PMC article.

10

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU. Sahoo T, et al. Among authors: shaw ca. Eur J Hum Genet. 2007 Sep;15(9):943-9. doi: 10.1038/sj.ejhg.5201859. Epub 2007 May 23. Eur J Hum Genet. 2007. PMID: 17522620 Free article.

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