Holden KR - Search Results

1

Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome.

Mooneyham KA, Holden KR, Cathey S, Dwivedi A, Dupont BR, Lyons MJ. Mooneyham KA, et al. Among authors: holden kr. Am J Med Genet A. 2014 Nov;164A(11):2887-91. doi: 10.1002/ajmg.a.36708. Epub 2014 Aug 13. Am J Med Genet A. 2014. PMID: 25123844

2

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: holden kr. J Child Neurol. 2013 Apr;28(4):524-6. doi: 10.1177/0883073812446309. Epub 2012 Jun 29. J Child Neurol. 2013. PMID: 22752474

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. Among authors: holden kr. 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

A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.

Smith JA, Holden KR, Friez MJ, Jones JR, Lyons MJ. Smith JA, et al. Among authors: holden kr. Am J Med Genet A. 2016 Dec;170(12):3313-3318. doi: 10.1002/ajmg.a.37945. Epub 2016 Aug 29. Am J Med Genet A. 2016. PMID: 27570168

5

Expansion of the deletion 13q syndrome phenotype: a case report.

Lance EI, DuPont BR, Holden KR. Lance EI, et al. Among authors: holden kr. J Child Neurol. 2007 Sep;22(9):1124-7. doi: 10.1177/0883073807306257. J Child Neurol. 2007. PMID: 17890413

6

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: holden kr. J Child Neurol. 2008 Jan;23(1):112-7. doi: 10.1177/0883073807307979. J Child Neurol. 2008. PMID: 18184946

7

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: holden kr. 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.

8

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: holden kr. 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.

9

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

10

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. Among authors: holden kr. J Child Neurol. 2012 Jun;27(6):786-90. doi: 10.1177/0883073811425860. Epub 2011 Dec 21. J Child Neurol. 2012. PMID: 22190500

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