Holden KR - Search Results

1

Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.

Zarate YA, Lichty AW, Champion KJ, Clarkson LK, Holden KR, Matheus MG. Zarate YA, et al. Among authors: holden kr. J Child Neurol. 2014 Aug;29(8):NP13-7. doi: 10.1177/0883073813492384. Epub 2013 Jul 21. J Child Neurol. 2014. PMID: 23877478

2

LIS1 duplication: expanding the phenotype.

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

3

Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency: Implications for Diagnosis and Therapies.

Matheus MG, Lehman RK, Bonilha L, Holden KR. Matheus MG, et al. Among authors: holden kr. J Child Neurol. 2015 Oct;30(12):1664-8. doi: 10.1177/0883073815578524. Epub 2015 Apr 21. J Child Neurol. 2015. PMID: 25900139

4

Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.

Davis K, Holden KR, S'Aulis D, Amador C, Matheus MG, Rizzo WB. Davis K, et al. Among authors: holden kr. J Child Neurol. 2013 Oct;28(10):1259-65. doi: 10.1177/0883073812460581. Epub 2012 Oct 3. J Child Neurol. 2013. PMID: 23034980 Free PMC article.

5

Importance of genetic testing in global health during the evaluation of familial microcephaly.

Molinero I, Broman-Fulks J, Lyons MJ, Matheus MG, Chaubey A, DuPont BR, Friez MJ, Skinner SA, Holden KR. Molinero I, et al. Among authors: holden kr. Clin Case Rep. 2016 Aug 26;4(10):968-971. doi: 10.1002/ccr3.669. eCollection 2016 Oct. Clin Case Rep. 2016. PMID: 27761248 Free PMC article.

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

A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype.

Gregory ML, Guzauskas GF, Edgar TS, Clarkson KB, Srivastava AK, Holden KR. Gregory ML, et al. Among authors: holden kr. J Child Neurol. 2008 Dec;23(12):1433-8. doi: 10.1177/0883073808320754. J Child Neurol. 2008. PMID: 19073849

8

Transgenerational Inheritance of Familial Lipomyelomeningocele.

Larrew T, Eskandari R, Holden KR, Chen A, Spellicy CJ, Jones JR, Lee JA, Lyons MJ. Larrew T, et al. Among authors: holden kr. J Child Neurol. 2017 Dec;32(14):1118-1122. doi: 10.1177/0883073817736701. J Child Neurol. 2017. PMID: 29129155

9

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

10

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

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