Kimonis VE - Search Results

1

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.

2

Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies.

Jonas RE, Kimonis VE, Morales A. Jonas RE, et al. Among authors: kimonis ve. Am J Med Genet. 1997 Dec 12;73(2):184-8. Am J Med Genet. 1997. PMID: 9409870 Review.

3

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

Kovach MJ, Lin JP, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B, Jabs EW, Gelber D, Kimonis VE. Kovach MJ, et al. Among authors: kimonis ve. Am J Hum Genet. 1999 Jun;64(6):1580-93. doi: 10.1086/302420. Am J Hum Genet. 1999. PMID: 10330345 Free PMC article.

4

Mild phenotype due to tandem duplication of l7p11.2.

Schneider MC, Hughes CR, Forrester S, Kimonis V. Schneider MC, et al. Am J Med Genet. 2000 Oct 2;94(4):296-9. doi: 10.1002/1096-8628(20001002)94:4<296::aid-ajmg6>3.0.co;2-b. Am J Med Genet. 2000. PMID: 11038442 Review.

5

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.

6

Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families.

Chen AS, Kovach MJ, Herman K, Avakian A, Frank W, Forrester S, Lin JP, Kimonis V. Chen AS, et al. Genet Med. 2000 Sep-Oct;2(5):283-9. doi: 10.1097/00125817-200009000-00003. Genet Med. 2000. PMID: 11399209 Free article.

7

Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.

Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V. Forrester S, et al. Am J Med Genet. 2001 Jan 1;98(1):92-100. Am J Med Genet. 2001. PMID: 11426460 Free article. Review.

8

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.

9

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

10

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 Review.

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