Dupont BR - Search Results

1

Deletion of 16q24.1 supports a role for the ATP2C2 gene in specific language impairment.

Smith AW, Holden KR, Dwivedi A, Dupont BR, Lyons MJ. Smith AW, et al. Among authors: dupont br. J Child Neurol. 2015 Mar;30(4):517-21. doi: 10.1177/0883073814545113. Epub 2014 Oct 7. J Child Neurol. 2015. PMID: 25296922

2

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

3

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

4

47, XY, +der(Y),t(X;Y)(p21.1;p11.2): a unique case of XY sex reversal.

Zarate YA, Dwivedi A, Bartel FO, Corning K, Dupont BR. Zarate YA, et al. Among authors: dupont br. Am J Med Genet A. 2011 Feb;155A(2):386-91. doi: 10.1002/ajmg.a.33799. Epub 2010 Dec 22. Am J Med Genet A. 2011. PMID: 21271659

5

Autism in two females with duplications involving Xp11.22-p11.23.

Edens AC, Lyons MJ, Duron RM, Dupont BR, Holden KR. Edens AC, et al. Among authors: dupont br. Dev Med Child Neurol. 2011 May;53(5):463-6. doi: 10.1111/j.1469-8749.2010.03909.x. Epub 2011 Mar 21. Dev Med Child Neurol. 2011. PMID: 21418194 Free article.

6

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).

Armour CM, Bulman DE, Jarinova O, Rogers RC, Clarkson KB, DuPont BR, Dwivedi A, Bartel FO, McDonell L, Schwartz CE, Boycott KM, Everman DB, Graham GE. Armour CM, et al. Among authors: dupont br. Eur J Hum Genet. 2011 Nov;19(11):1144-51. doi: 10.1038/ejhg.2011.97. Epub 2011 Jun 1. Eur J Hum Genet. 2011. PMID: 21629300 Free PMC article.

7

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.

8

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).

Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS. Sarasua SM, et al. Among authors: dupont br. J Med Genet. 2011 Nov;48(11):761-6. doi: 10.1136/jmedgenet-2011-100225. Epub 2011 Oct 7. J Med Genet. 2011. PMID: 21984749

9

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

10

Clinical utility of the X-chromosome array.

Zarate YA, Dwivedi A, Bartel FO, Bellomo MA, Cathey SS, Champaigne NL, Clarkson LK, Dupont BR, Everman DB, Geer JS, Gordon BC, Lichty AW, Lyons MJ, Rogers RC, Saul RA, Schroer RJ, Skinner SA, Stevenson RE. Zarate YA, et al. Among authors: dupont br. Am J Med Genet A. 2013 Jan;161A(1):120-30. doi: 10.1002/ajmg.a.35698. Epub 2012 Dec 3. Am J Med Genet A. 2013. PMID: 23208842

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