South ST - Search Results

1

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, Shetty S, Rossi MR, Rudd MK, South ST, Brothman AR, Sanger WG, Iyer RK, Crolla JA, Thorland EC, Aradhya S, Ledbetter DH, Martin CL. Kaminsky EB, et al. Among authors: south st. Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9. Genet Med. 2011. PMID: 21844811 Free PMC article.

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

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

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

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

8

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.

9

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

10

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: south st. 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

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