DuPont BR - Search Results

1

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

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

Prevalence of aneuploidies in South Carolina in the 1990s.

Collins JS, Olson RL, DuPont BR, Wolff DJ, Best RG, Stevenson RE. Collins JS, et al. Among authors: dupont br. Genet Med. 2002 May-Jun;4(3):131-5. doi: 10.1097/00125817-200205000-00006. Genet Med. 2002. PMID: 12180147 Free article.

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

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.

7

Microcephaly and congenital grouped pigmentation of the retinal pigment epithelium associated with submicroscopic deletions of 13q33.3-q34 and 11p15.4.

Siddiqui AM, Everman DB, Rogers RC, DuPont BR, Smith BT, Seaver LH, Morales A, Varn M, Cohen B, Traboulsi EI. Siddiqui AM, et al. Among authors: dupont br. Ophthalmic Genet. 2009 Sep;30(3):136-41. doi: 10.1080/13816810903085263. Ophthalmic Genet. 2009. PMID: 19941418

8

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

9

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

10

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: dupont br. 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.

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