DuPont BR - Search Results

1

Characterization of a human import component of the mitochondrial outer membrane, TOMM70A.

Edmonson AM, Mayfield DK, Vervoort V, DuPont BR, Argyropoulos G. Edmonson AM, et al. Among authors: dupont br. Cell Commun Adhes. 2002 Jan-Feb;9(1):15-27. doi: 10.1080/15419060212186. Cell Commun Adhes. 2002. PMID: 12200962 Free article.

2

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

3

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.

4

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

5

Growth in Phelan-McDermid syndrome.

Rollins JD, Sarasua SM, Phelan K, DuPont BR, Rogers RC, Collins JS. Rollins JD, et al. Among authors: dupont br. Am J Med Genet A. 2011 Sep;155A(9):2324-6. doi: 10.1002/ajmg.a.34158. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834045 No abstract available.

6

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome.

Sarasua SM, Dwivedi A, Boccuto L, Chen CF, Sharp JL, Rollins JD, Collins JS, Rogers RC, Phelan K, DuPont BR. Sarasua SM, et al. Among authors: dupont br. Genet Med. 2014 Apr;16(4):318-28. doi: 10.1038/gim.2013.144. Epub 2013 Oct 17. Genet Med. 2014. PMID: 24136618 Free article.

7

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

8

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.

9

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.

10

Unbalanced translocation involving partial trisomy 9p and partial monosomy yq with neurodevelopmental delays.

Lyons MJ, Fuller JD, Montoya Mdel C, DuPont BR, Holden KR. Lyons MJ, et al. Among authors: dupont br. J Child Neurol. 2013 Apr;28(4):524-6. doi: 10.1177/0883073812446309. Epub 2012 Jun 29. J Child Neurol. 2013. PMID: 22752474

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