DuPont BR - Search Results

1

Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.

Dukes-Rimsky L, Guzauskas GF, Holden KR, Griggs R, Ladd S, Montoya Mdel C, DuPont BR, Srivastava AK. Dukes-Rimsky L, et al. Among authors: dupont br. Am J Med Genet A. 2011 Sep;155A(9):2146-53. doi: 10.1002/ajmg.a.34137. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834054 Free PMC article.

2

Interstitial duplication 19p.

Stratton RF, DuPont BR, Olsen AS, Fertitta A, Hoyer M, Moore CM. Stratton RF, et al. Among authors: dupont br. Am J Med Genet. 1995 Jul 17;57(4):562-4. doi: 10.1002/ajmg.1320570409. Am J Med Genet. 1995. PMID: 7573129

3

Interstitial duplication of 7(q22-->q34).

Stratton RF, DuPont BR, Mattern VL, Schelonka RL, Moore CM. Stratton RF, et al. Among authors: dupont br. Am J Med Genet. 1993 Sep 1;47(3):380-2. doi: 10.1002/ajmg.1320470316. Am J Med Genet. 1993. PMID: 8135285

4

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. Science. 2002 Jun 28;296(5577):2401-3. doi: 10.1126/science.1072191. Science. 2002. PMID: 12089445

5

Expansion of the deletion 13q syndrome phenotype: a case report.

Lance EI, DuPont BR, Holden KR. Lance EI, et al. Among authors: dupont br. J Child Neurol. 2007 Sep;22(9):1124-7. doi: 10.1177/0883073807306257. J Child Neurol. 2007. PMID: 17890413

6

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.

Griggs BL, Ladd S, Saul RA, DuPont BR, Srivastava AK. Griggs BL, et al. Among authors: dupont br. Genomics. 2008 Feb;91(2):195-202. doi: 10.1016/j.ygeno.2007.10.011. Epub 2007 Dec 3. Genomics. 2008. PMID: 18060736 Free PMC article.

7

Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant.

Giurgiutiu DV, Espinoza LM, Wood TC, DuPont BR, Holden KR. Giurgiutiu DV, et al. Among authors: dupont br. J Child Neurol. 2008 Jan;23(1):112-7. doi: 10.1177/0883073807307979. J Child Neurol. 2008. PMID: 18184946

8

Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus.

Griggs BL, Ladd S, Decker A, DuPont BR, Asamoah A, Srivastava AK. Griggs BL, et al. Among authors: dupont br. Eur J Hum Genet. 2009 Jan;17(1):30-6. doi: 10.1038/ejhg.2008.183. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854857 Free PMC article.

9

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: dupont br. 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.

10

Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.

Rodriguez JD, Bhat SS, Meloni I, Ladd S, Leslie ND, Doyne EO, Renieri A, Dupont BR, Stevenson RE, Schwartz CE, Srivastava AK. Rodriguez JD, et al. Among authors: dupont br. Am J Med Genet A. 2010 Mar;152A(3):713-7. doi: 10.1002/ajmg.a.33208. Am J Med Genet A. 2010. PMID: 20186809

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