South ST - Search Results

1

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: south st. 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

2

Unexpected cytogenetic finding in acute lymphoblastic leukemia: a case of del(5q) with a cryptic t(12;21).

South ST, Frazer JK, Brothman AR, Chen Z. South ST, et al. Cancer Genet Cytogenet. 2006 Jul 15;168(2):177-8. doi: 10.1016/j.cancergencyto.2005.12.005. Cancer Genet Cytogenet. 2006. PMID: 16843112 No abstract available.

3

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. 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

4

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: south st. 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.

5

Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation.

South ST, Bleyl SB, Carey JC. South ST, et al. Am J Med Genet A. 2007 Sep 15;143A(18):2137-42. doi: 10.1002/ajmg.a.31900. Am J Med Genet A. 2007. PMID: 17696124

6

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. 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

7

Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.

Bleyl SB, Byrne JL, South ST, Dries DC, Stevenson DA, Rope AF, Vianna-Morgante AM, Schoenwolf GC, Kivlin JD, Brothman A, Carey JC. Bleyl SB, et al. Among authors: south st. Am J Med Genet A. 2007 Dec 1;143A(23):2785-95. doi: 10.1002/ajmg.a.32036. Am J Med Genet A. 2007. PMID: 17994562

8

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: south st. 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

9

Genomic medicine in prenatal diagnosis.

South ST, Chen Z, Brothman AR. South ST, et al. Clin Obstet Gynecol. 2008 Mar;51(1):62-73. doi: 10.1097/GRF.0b013e3181616509. Clin Obstet Gynecol. 2008. PMID: 18303500 Review.

10

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. 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

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