Brothman AR - Search Results

1

Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies.

South ST, Rope AF, Lamb AN, Aston E, Glaus N, Whitby H, Maxwell T, Zhu XL, Brothman AR. South ST, et al. Among authors: brothman ar. J Med Genet. 2008 Jun;45(6):391-5. doi: 10.1136/jmg.2008.057315. Epub 2008 Apr 15. J Med Genet. 2008. PMID: 18413369

2

A new genomic mechanism leading to cri-du-chat syndrome.

South ST, Swensen JJ, Maxwell T, Rope A, Brothman AR, Chen Z. South ST, et al. Among authors: brothman ar. Am J Med Genet A. 2006 Dec 15;140(24):2714-20. doi: 10.1002/ajmg.a.31496. Am J Med Genet A. 2006. PMID: 17103439

3

Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.

Svensson AM, Curry CJ, South ST, Whitby H, Maxwell TM, Aston E, Fisher J, Carmack CE, Scheffer A, Abu-Shamsieh A, Brothman AR. Svensson AM, et al. Among authors: brothman ar. Am J Med Genet A. 2007 Jun 15;143A(12):1348-53. doi: 10.1002/ajmg.a.31775. Am J Med Genet A. 2007. PMID: 17506097

4

Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations.

South ST, Whitby H, Battaglia A, Carey JC, Brothman AR. South ST, et al. Among authors: brothman ar. Eur J Hum Genet. 2008 Jan;16(1):45-52. doi: 10.1038/sj.ejhg.5201915. Epub 2007 Aug 29. Eur J Hum Genet. 2008. PMID: 17726485

5

Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?

Curry CJ, Mao R, Aston E, Mongia SK, Treisman T, Procter M, Chou B, Whitby H, South ST, Brothman AR. Curry CJ, et al. Among authors: brothman ar. Am J Med Genet A. 2008 Aug 1;146A(15):1903-10. doi: 10.1002/ajmg.a.32450. Am J Med Genet A. 2008. PMID: 18627067

6

Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype.

South ST, Whitby H, Maxwell T, Aston E, Brothman AR, Carey JC. South ST, et al. Among authors: brothman ar. Am J Med Genet A. 2008 Oct 15;146A(20):2691-7. doi: 10.1002/ajmg.a.32516. Am J Med Genet A. 2008. PMID: 18798325

7

Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform.

Aston E, Whitby H, Maxwell T, Glaus N, Cowley B, Lowry D, Zhu XL, Issa B, South ST, Brothman AR. Aston E, et al. Among authors: brothman ar. J Med Genet. 2008 May;45(5):268-74. doi: 10.1136/jmg.2007.055319. Epub 2008 Jan 4. J Med Genet. 2008. PMID: 18178633

8

U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements.

Rowe LR, Lee JY, Rector L, Kaminsky EB, Brothman AR, Martin CL, South ST. Rowe LR, et al. Among authors: brothman ar. J Med Genet. 2009 Oct;46(10):694-702. doi: 10.1136/jmg.2008.065052. Epub 2009 Mar 16. J Med Genet. 2009. PMID: 19293169

9

Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.

Stevenson DA, Bleyl SB, Maxwell T, Brothman AR, South ST. Stevenson DA, et al. Among authors: brothman ar. Am J Med Genet A. 2007 May 15;143A(10):1053-9. doi: 10.1002/ajmg.a.31715. Am J Med Genet A. 2007. PMID: 17431905 Free PMC article.

10

How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay.

Saam J, Gudgeon J, Aston E, Brothman AR. Saam J, et al. Among authors: brothman ar. Genet Med. 2008 Mar;10(3):181-6. doi: 10.1097/GIM.0b013e3181634eca. Genet Med. 2008. PMID: 18344707 Free article.

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