DuPont B - Search Results

1

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME. Hodge JC, et al. Among authors: dupont b. Mol Psychiatry. 2014 Mar;19(3):368-79. doi: 10.1038/mp.2013.42. Epub 2013 Apr 16. Mol Psychiatry. 2014. PMID: 23587880 Free PMC article.

2

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

3

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. 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

4

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.

Franek KJ, Butler J, Johnson J, Simensen R, Friez MJ, Bartel F, Moss T, DuPont B, Berry K, Bauman M, Skinner C, Stevenson RE, Schwartz CE. Franek KJ, et al. Among authors: dupont b. Am J Med Genet A. 2011 May;155A(5):1109-14. doi: 10.1002/ajmg.a.33833. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484992

5

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.

6

Growth in Phelan-McDermid syndrome.

Rollins JD, Sarasua SM, Phelan K, DuPont BR, Rogers RC, Collins JS. Rollins JD, et al. 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.

7

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. 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

8

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

9

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. 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.

10

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. Hum Genet. 2014 Jul;133(7):847-59. doi: 10.1007/s00439-014-1423-7. Epub 2014 Jan 31. Hum Genet. 2014. PMID: 24481935

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