Dwivedi AC - Search Results

1

Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism.

Dwivedi AC, Lyons MJ, Kwiatkowski K, Bartel FO, Friez MJ, Holden KR, Fung ET, DuPont BR. Dwivedi AC, et al. Mol Cytogenet. 2014 Dec 4;7(1):93. doi: 10.1186/s13039-014-0093-4. eCollection 2014. Mol Cytogenet. 2014. PMID: 25530805 Free PMC article.

2

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. 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

3

Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion.

Dean SJ, Holden KR, Dwivedi A, Dupont BR, Lyons MJ. Dean SJ, et al. Pediatr Neurol. 2014 Jun;50(6):636-9. doi: 10.1016/j.pediatrneurol.2014.01.055. Epub 2014 Feb 10. Pediatr Neurol. 2014. PMID: 24725350

4

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. J Child Neurol. 2015 Mar;30(4):517-21. doi: 10.1177/0883073814545113. Epub 2014 Oct 7. J Child Neurol. 2015. PMID: 25296922

5

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

6

LIS1 duplication: expanding the phenotype.

Lockrow JP, Holden KR, Dwivedi A, Matheus MG, Lyons MJ. Lockrow JP, et al. J Child Neurol. 2012 Jun;27(6):791-5. doi: 10.1177/0883073811425972. Epub 2011 Dec 21. J Child Neurol. 2012. PMID: 22190508

7

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

8

Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2).

Burruss DM, Wood TC, Espinoza L, Dwivedi A, Holden KR. Burruss DM, et al. J Child Neurol. 2012 Jun;27(6):786-90. doi: 10.1177/0883073811425860. Epub 2011 Dec 21. J Child Neurol. 2012. PMID: 22190500

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

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

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