Shaw CA - Search Results

1

Sustained endocrine profiles of a girl with WAGR syndrome.

Takada Y, Sakai Y, Matsushita Y, Ohkubo K, Koga Y, Akamine S, Torio M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Kagami M, Hara T, Ohga S. Takada Y, et al. Among authors: shaw ca. BMC Med Genet. 2017 Oct 23;18(1):117. doi: 10.1186/s12881-017-0477-5. BMC Med Genet. 2017. PMID: 29061165 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

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.

Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR. Shaw CJ, et al. Among authors: shaw ca. J Med Genet. 2004 Feb;41(2):113-9. doi: 10.1136/jmg.2003.012831. J Med Genet. 2004. PMID: 14757858 Free PMC article.

5

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

6

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.

Probst FJ, Roeder ER, Enciso VB, Ou Z, Cooper ML, Eng P, Li J, Gu Y, Stratton RF, Chinault AC, Shaw CA, Sutton VR, Cheung SW, Nelson DL. Probst FJ, et al. Among authors: shaw ca. Am J Med Genet A. 2007 Jun 15;143A(12):1358-65. doi: 10.1002/ajmg.a.31781. Am J Med Genet A. 2007. PMID: 17506108

7

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.

8

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A. Ben-Shachar S, et al. Among authors: shaw ca. Am J Hum Genet. 2008 Jan;82(1):214-21. doi: 10.1016/j.ajhg.2007.09.014. Am J Hum Genet. 2008. PMID: 18179902 Free PMC article.

9

Low-level mosaicism of trisomy 14: phenotypic and molecular characterization.

Shinawi M, Shao L, Jeng LJ, Shaw CA, Patel A, Bacino C, Sutton VR, Belmont J, Cheung SW. Shinawi M, et al. Among authors: shaw ca. Am J Med Genet A. 2008 Jun 1;146A(11):1395-405. doi: 10.1002/ajmg.a.32287. Am J Med Genet A. 2008. PMID: 18412278

10

Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes.

Chinault AC, Shaw CA, Brundage EK, Tang LY, Wong LJ. Chinault AC, et al. Among authors: shaw ca. Genet Med. 2009 Jul;11(7):518-26. doi: 10.1097/GIM.0b013e3181abd83c. Genet Med. 2009. PMID: 19546809 Free article.

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