Kimonis V - Search Results

1

Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes.

Veatch OJ, Malow BA, Lee HS, Knight A, Barrish JO, Neul JL, Lane JB, Skinner SA, Kaufmann WE, Miller JL, Driscoll DJ, Bird LM, Butler MG, Dykens EM, Gold JA, Kimonis V, Bacino CA, Tan WH, Kothare SV, Peters SU, Percy AK, Glaze DG. Veatch OJ, et al. Among authors: kimonis v. Pediatr Neurol. 2021 Oct;123:30-37. doi: 10.1016/j.pediatrneurol.2021.07.009. Epub 2021 Jul 24. Pediatr Neurol. 2021. PMID: 34388423 Free PMC article.

2

Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature.

Baris H, Tan WH, Kimonis VE. Baris H, et al. Am J Med Genet A. 2005 Apr 15;134A(2):220-2. doi: 10.1002/ajmg.a.30612. Am J Med Genet A. 2005. PMID: 15712197 Review.

3

Cockayne syndrome: the developing phenotype.

Tan WH, Baris H, Robson CD, Kimonis VE. Tan WH, et al. Am J Med Genet A. 2005 Jun 1;135(2):214-6. doi: 10.1002/ajmg.a.30731. Am J Med Genet A. 2005. PMID: 15887300

4

Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.

Baris H, Bejjani BA, Tan WH, Coulter DL, Martin JA, Storm AL, Burton BK, Saitta SC, Gajecka M, Ballif BC, Irons MB, Shaffer LG, Kimonis VE. Baris H, et al. Am J Med Genet A. 2006 Sep 1;140A(17):1876-9. doi: 10.1002/ajmg.a.31390. Am J Med Genet A. 2006. PMID: 16892302 No abstract available.

5

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU. Sahoo T, et al. Among authors: kimonis v. Eur J Hum Genet. 2007 Sep;15(9):943-9. doi: 10.1038/sj.ejhg.5201859. Epub 2007 May 23. Eur J Hum Genet. 2007. PMID: 17522620 Free article.

6

Diagnostic utility of array-based comparative genomic hybridization in a clinical setting.

Baris HN, Tan WH, Kimonis VE, Irons MB. Baris HN, et al. Am J Med Genet A. 2007 Nov 1;143A(21):2523-33. doi: 10.1002/ajmg.a.31988. Am J Med Genet A. 2007. PMID: 17910064

7

Genetics of craniosynostosis.

Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Kimonis V, et al. Semin Pediatr Neurol. 2007 Sep;14(3):150-61. doi: 10.1016/j.spen.2007.08.008. Semin Pediatr Neurol. 2007. PMID: 17980312 Review.

8

Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome.

Su H, Fan W, Coskun PE, Vesa J, Gold JA, Jiang YH, Potluri P, Procaccio V, Acab A, Weiss JH, Wallace DC, Kimonis VE. Su H, et al. Among authors: kimonis ve. Neurosci Lett. 2011 Jan 7;487(2):129-33. doi: 10.1016/j.neulet.2009.06.079. Epub 2009 Jun 27. Neurosci Lett. 2011. PMID: 19563863 Free PMC article.

9

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

Butler MG, Sturich J, Myers SE, Gold JA, Kimonis V, Driscoll DJ. Butler MG, et al. Among authors: kimonis v. J Assist Reprod Genet. 2009 Aug;26(8):461-6. doi: 10.1007/s10815-009-9341-7. Epub 2009 Sep 17. J Assist Reprod Genet. 2009. PMID: 19760168 Free PMC article.

10

Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.

Peters SU, Bird LM, Kimonis V, Glaze DG, Shinawi LM, Bichell TJ, Barbieri-Welge R, Nespeca M, Anselm I, Waisbren S, Sanborn E, Sun Q, O'Brien WE, Beaudet AL, Bacino CA. Peters SU, et al. Among authors: kimonis v. Am J Med Genet A. 2010 Aug;152A(8):1994-2001. doi: 10.1002/ajmg.a.33509. Am J Med Genet A. 2010. PMID: 20635355 Free PMC article. Clinical Trial.

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