DuPont BR - Search Results

1

Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.

Sarasua SM, Boccuto L, Sharp JL, Dwivedi A, Chen CF, Rollins JD, Rogers RC, Phelan K, DuPont BR. Sarasua SM, et al. Among authors: dupont br. Hum Genet. 2014 Jul;133(7):847-59. doi: 10.1007/s00439-014-1423-7. Epub 2014 Jan 31. Hum Genet. 2014. PMID: 24481935

2

Identification of cryptic rearrangements in patients with 18q- deletion syndrome.

Brkanac Z, Cody JD, Leach RJ, DuPont BR. Brkanac Z, et al. Among authors: dupont br. Am J Hum Genet. 1998 Jun;62(6):1500-6. doi: 10.1086/301854. Am J Hum Genet. 1998. PMID: 9585582 Free PMC article.

3

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.

4

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.

5

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

6

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

7

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.

8

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.

9

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.

10

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.

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