Cooper ML - Search Results

1

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: cooper ml. 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

2

Development and validation of a CGH microarray for clinical cytogenetic diagnosis.

Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL. Cheung SW, et al. Among authors: cooper ml. Genet Med. 2005 Jul-Aug;7(6):422-32. doi: 10.1097/01.gim.0000170992.63691.32. Genet Med. 2005. PMID: 16024975 Free article.

3

Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features.

Hwang KS, Pearson MA, Stankiewicz P, Lennon PA, Cooper ML, Wu J, Ou Z, Cai WW, Patel A, Cheung SW. Hwang KS, et al. Among authors: cooper ml. Am J Med Genet A. 2005 Aug 15;137(1):88-93. doi: 10.1002/ajmg.a.30858. Am J Med Genet A. 2005. PMID: 16015583

4

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.

Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, Sullivan CM, Sahoo T, Yatsenko SA, Bacino CA, Stankiewicz P, Ou Z, Chinault AC, Beaudet AL, Lupski JR, Cheung SW, Ward PA. Lu X, et al. Among authors: cooper ml. PLoS One. 2007 Mar 28;2(3):e327. doi: 10.1371/journal.pone.0000327. PLoS One. 2007. PMID: 17389918 Free PMC article.

5

De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23).

Jiang YH, Martinez JE, Ou Z, Cooper ML, Kang SH, Pursley A, Cheung SW. Jiang YH, et al. Among authors: cooper ml. Am J Med Genet A. 2008 Aug 1;146A(15):1986-93. doi: 10.1002/ajmg.a.32408. Am J Med Genet A. 2008. PMID: 18627051

6

Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.

Ou Z, Martin DM, Bedoyan JK, Cooper ML, Chinault AC, Stankiewicz P, Cheung SW. Ou Z, et al. Among authors: cooper ml. Am J Med Genet A. 2008 Oct 1;146A(19):2480-9. doi: 10.1002/ajmg.a.32398. Am J Med Genet A. 2008. PMID: 18666230 Free article.

7

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

Kang SH, Shaw C, Ou Z, Eng PA, Cooper ML, Pursley AN, Sahoo T, Bacino CA, Chinault AC, Stankiewicz P, Patel A, Lupski JR, Cheung SW. Kang SH, et al. Among authors: cooper ml. Am J Med Genet A. 2010 May;152A(5):1111-26. doi: 10.1002/ajmg.a.33278. Am J Med Genet A. 2010. PMID: 20340098 Free PMC article.

8

Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.

Lennon PA, Cooper ML, Curtis MA, Lim C, Ou Z, Patel A, Cheung SW, Bacino CA. Lennon PA, et al. Among authors: cooper ml. Am J Med Genet A. 2006 Jun 1;140(11):1156-63. doi: 10.1002/ajmg.a.31243. Am J Med Genet A. 2006. PMID: 16688748

9

Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization.

Brunetti-Pierri N, Grange DK, Ou Z, Peiffer DA, Peacock SK, Cooper ML, Eng PA, Lalani SR, Chinault AC, Gunderson KL, Craigen WJ, Cheung SW. Brunetti-Pierri N, et al. Among authors: cooper ml. Clin Genet. 2007 Nov;72(5):411-9. doi: 10.1111/j.1399-0004.2007.00896.x. Epub 2007 Oct 3. Clin Genet. 2007. PMID: 17916097

10

Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature.

Erez A, Li J, Geraghty MT, Ben-Shachar S, Cooper ML, Mensing DE, Vonalt KD, Ou Z, Pursley AN, Chinault AC, Patel A, Cheung SW, Sahoo T. Erez A, et al. Among authors: cooper ml. Am J Med Genet A. 2010 Mar;152A(3):732-6. doi: 10.1002/ajmg.a.33269. Am J Med Genet A. 2010. PMID: 20186791 Review.

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