Kimonis VE - Search Results

1

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.

Kimonis VE, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, Neilan EG, Kartashov A, Forman MS, Tucker S, Kimonis K, Mumm S, Whyte MP, Smith CD, Watts GD. Kimonis VE, et al. Among authors: kimonis k. Am J Med Genet A. 2008 Mar 15;146A(6):745-57. doi: 10.1002/ajmg.a.31862. Am J Med Genet A. 2008. PMID: 18260132 Free PMC article.

2

Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone.

Kimonis VE, Kovach MJ, Waggoner B, Leal S, Salam A, Rimer L, Davis K, Khardori R, Gelber D. Kimonis VE, et al. Genet Med. 2000 Jul-Aug;2(4):232-41. doi: 10.1097/00125817-200007000-00006. Genet Med. 2000. PMID: 11252708 Free PMC article.

3

Genetic heterogeneity in autosomal dominant essential tremor.

Kovach MJ, Ruiz J, Kimonis K, Mueed S, Sinha S, Higgins C, Elble S, Elble R, Kimonis VE. Kovach MJ, et al. Among authors: kimonis k, kimonis ve. Genet Med. 2001 May-Jun;3(3):197-9. doi: 10.1097/00125817-200105000-00009. Genet Med. 2001. PMID: 11388761 Free article.

4

Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.

Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, Shanks CA, Gregg G, Al-Lozi MT, Miller T, Rakowicz W, Lopate G, Florence J, Glosser G, Simmons Z, Morris JC, Whyte MP, Pestronk A, Kimonis VE. Kovach MJ, et al. Among authors: kimonis ve. Mol Genet Metab. 2001 Dec;74(4):458-75. doi: 10.1006/mgme.2001.3256. Mol Genet Metab. 2001. PMID: 11749051 Free PMC article.

5

Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy.

Waggoner B, Kovach MJ, Winkelman M, Cai D, Khardori R, Gelber D, Kimonis VE. Waggoner B, et al. Among authors: kimonis ve. Am J Med Genet. 2002 Mar 15;108(3):187-91. doi: 10.1002/ajmg.10199. Am J Med Genet. 2002. PMID: 11891683 Free article.

6

Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.

Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis VE. Kovach MJ, et al. Among authors: kimonis ve. Am J Med Genet. 2002 Apr 1;108(4):295-303. doi: 10.1002/ajmg.10223. Am J Med Genet. 2002. PMID: 11920834 Free article. Review.

7

Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes.

Watts GD, Thorne M, Kovach MJ, Pestronk A, Kimonis VE. Watts GD, et al. Among authors: kimonis ve. Neuromuscul Disord. 2003 Sep;13(7-8):559-67. doi: 10.1016/s0960-8966(03)00070-1. Neuromuscul Disord. 2003. PMID: 12921793 Free article.

8

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.

Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE. Watts GD, et al. Among authors: kimonis ve. Nat Genet. 2004 Apr;36(4):377-81. doi: 10.1038/ng1332. Epub 2004 Mar 21. Nat Genet. 2004. PMID: 15034582 Free article.

9

Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.

Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B. Kimonis VE, et al. Genet Med. 2004 Nov-Dec;6(6):495-502. doi: 10.1097/01.gim.0000145045.17711.1c. Genet Med. 2004. PMID: 15545745 Free article.

10

Cockayne syndrome: the developing phenotype.

Tan WH, Baris H, Robson CD, Kimonis VE. Tan WH, et al. Among authors: kimonis ve. 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 Free article.

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