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Page 1
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.
Bhalla K, Luo Y, Buchan T, Beachem MA, Guzauskas GF, Ladd S, Bratcher SJ, Schroer RJ, Balsamo J, DuPont BR, Lilien J, Srivastava AK. Bhalla K, et al. Among authors: srivastava ak. Am J Hum Genet. 2008 Dec;83(6):703-13. doi: 10.1016/j.ajhg.2008.10.020. Epub 2008 Nov 13. Am J Hum Genet. 2008. PMID: 19012874 Free PMC article.
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
Vieira GH, Rodriguez JD, Carmona-Mora P, Cao L, Gamba BF, Carvalho DR, de Rezende Duarte A, Santos SR, de Souza DH, DuPont BR, Walz K, Moretti-Ferreira D, Srivastava AK. Vieira GH, et al. Among authors: srivastava ak. Eur J Hum Genet. 2012 Feb;20(2):148-54. doi: 10.1038/ejhg.2011.167. Epub 2011 Sep 7. Eur J Hum Genet. 2012. PMID: 21897445 Free PMC article.
AGTR2 mutations in X-linked mental retardation.
Vervoort VS, Beachem MA, Edwards PS, Ladd S, Miller KE, de Mollerat X, Clarkson K, DuPont B, Schwartz CE, Stevenson RE, Boyd E, Srivastava AK. Vervoort VS, et al. Among authors: srivastava ak. Science. 2002 Jun 28;296(5577):2401-3. doi: 10.1126/science.1072191. Science. 2002. PMID: 12089445
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome.
Vieira GH, Rodriguez JD, Boy R, de Paiva IS, DuPont BR, Moretti-Ferreira D, Srivastava AK. Vieira GH, et al. Among authors: srivastava ak. Am J Med Genet A. 2011 May;155A(5):988-92. doi: 10.1002/ajmg.a.33960. Epub 2011 Apr 7. Am J Med Genet A. 2011. PMID: 21480478 No abstract available.
2,103 results