South ST - Search Results

1

Correspondence regarding SNX8 haploinsufficiency and its potential for cardiac anomalies including tetralogy of Fallot.

Vanzo RJ, Martin MM, Sdano MR, Teta K, South ST. Vanzo RJ, et al. Among authors: south st. Am J Med Genet A. 2014 Aug;164A(8):2136-7. doi: 10.1002/ajmg.a.36572. Epub 2014 Apr 14. Am J Med Genet A. 2014. PMID: 24733602 No abstract available.

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. 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

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.

4

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

5

A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia.

Pallister PD, Pallister AB, South S, Toydemir R, Johnson JP, Beischel L, Opitz JM. Pallister PD, et al. Am J Med Genet A. 2011 Apr;155A(4):833-9. doi: 10.1002/ajmg.a.33876. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21595000

6

Familial KANK1 deletion that does not follow expected imprinting pattern.

Vanzo RJ, Martin MM, Sdano MR, South ST. Vanzo RJ, et al. Among authors: south st. Eur J Med Genet. 2013 May;56(5):256-9. doi: 10.1016/j.ejmg.2013.02.006. Epub 2013 Feb 27. Eur J Med Genet. 2013. PMID: 23454270

7

SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot.

Vanzo RJ, Martin MM, Sdano MR, Teta K, Aggarwal V, South ST. Vanzo RJ, et al. Among authors: south st. Am J Med Genet A. 2014 Feb;164A(2):554-6. doi: 10.1002/ajmg.a.36242. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311514 No abstract available.

8

Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patients.

Sdano MR, Vanzo RJ, Martin MM, Baldwin EE, South ST, Rope AF, Allen WP, Kearney H. Sdano MR, et al. Among authors: south st. J Genet Couns. 2014 Dec;23(6):922-7. doi: 10.1007/s10897-014-9751-2. Epub 2014 Aug 15. J Genet Couns. 2014. PMID: 25120037

9

Variants of unknown significance on chromosomal microarray analysis: parental perspectives.

Jez S, Martin M, South S, Vanzo R, Rothwell E. Jez S, et al. J Community Genet. 2015 Oct;6(4):343-9. doi: 10.1007/s12687-015-0218-4. Epub 2015 Feb 10. J Community Genet. 2015. PMID: 25666435 Free PMC article.

10

Mosaic deletion of 20pter due to rescue by somatic recombination.

Martin MM, Vanzo RJ, Sdano MR, Baxter AL, South ST. Martin MM, et al. Among authors: south st. Am J Med Genet A. 2016 Jan;170A(1):243-8. doi: 10.1002/ajmg.a.37407. Epub 2015 Oct 5. Am J Med Genet A. 2016. PMID: 26436922

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