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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.
A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.
Abad C, Cook MM, Cao L, Jones JR, Rao NR, Dukes-Rimsky L, Pauly R, Skinner C, Wang Y, Luo F, Stevenson RE, Walz K, Srivastava AK. Abad C, et al. Among authors: srivastava ak. Biology (Basel). 2018 May 24;7(2):31. doi: 10.3390/biology7020031. Biology (Basel). 2018. PMID: 29794985 Free PMC article.
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.
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.
2,105 results