Dr  Margaret Kovach

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Publications & Abstracts

PUBLICATIONS:
Watts GDJ, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE (2004) Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat. Genet. 23:377-381.
Watts GDJ, Thorne M, Kovach MJ, Pestronk A, Kimonis VE. (2003) Clinical and
Genetic Heterogeneity in Chromosome 9p associated Hereditary Inclusion Body
Myopathy: Exclusion of GNE and three other candidate genes.
Neuromuscul. Disord. 13:559-567
Kovach MJ. Chen AS, Watts GDJ, Kimonis VE. Neurological and Dysmorphic Features in a Family with Hereditary Neuralgic Amyotrophy (HNA). BioMed Central (submitted).
Forrester S, Kovach MJ, Smith RE, Rimer L, Wesson M, Kimonis VE. (2002) Kousseff syndrome caused by deletion of chromosome 22q11-13. Am. J. Med. Genet. 112:338- 342
Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis
VE. (2002) Anticipation in a unique family with Charcot-Marie-Tooth Syndrome and Deafness: Delineation of the clinical feature and review of the literature. Am. J. Med. Genet. 108:295-303.
Kovach MJ, Tirumalai R, Landy A. (2002) Site-specific photo-crosslinking between λ -integrase and its DNA recombination target. J. Biol. Chem. 277:14530- 14538.
Waggoner B, Kovach MJ, Winkelman M, Cai D, Khardori R, Gelber D, Kimonis VE.
(2002) Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. Am. J. Med. Genet. 108:187-191.
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. (2001) 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. Mol. Genet. Metab. 74:458-475.
Kovach MJ, Ruiz J, Kimonis K, Mueed S, Sinha S, Higgins C, Elble S, Elble R, Kimonis VE (2001). Genetic heterogeneity in autosomal dominant essential tremor. Genet. Med. 3:197-199.
Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis VE. Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome (2001). Am. J. Med. Genet. 98:92-100.
Kimonis VE, Kovach MJ, Waggoner B, Leal S, Salam A, Rimer L, Davis K, Khadori R, Gelber D (2000). Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genet. Med. 2:232-241.
Chen AS, Kovach MJ, Herman K, Frank W, Forrester S, Avakian A, Lin J-P, Kimonis VE (2000). Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28- qter linked central Illinois families. Genet. Med. 2:283-289.
Kovach MJ, Lin J-P, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B, Jabs EW, Gelber D, Kimonis VE (1999) A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am. J. Hum. Genet. 64:1580-1593.
Kovach MJ, Carlson JO, Beaty BJ (1992) A Drosophila metallothionein promoter is inducible in mosquito cells. Insect Mol. Biol. 1:31-43.
Monroe TJ, Muhlmann-Diaz MC, Kovach MJ, Carlson JO, Bedford JS, Beaty BJ (1992) Stable transformation of a mosquito cell line results in extraordinarily high copy numbers of the plasmid. Proc. Natl. Acad. Sci. USA 89:5725-5729.
Maroun LE, Kovach MJ, Adams RB, Colliver J, Garvin CM, Mathur S, Mourey-Metcalf ME, Yoa X (1990) Human Chromosome 21 ß-amyloid and SOD-1 gene homologs map to rabbit chromosome 13. Clinical Biotech. 2:33-35.
Maroun LE, Kovach MJ, Adams RB, Colliver J, Garvin CM, Mathur S, Mourey-Metcalf ME, Yoa X (1990) Using restriction fragment length polymorphism for the detection of aneuploidy: A rabbit model for the induction of human chromosome 21 trisomy. Clinical Biotech. 2:36-38.
 
ABSTRACTS:
Chen AS, Kovach MJ, Kimonis VE (1999) Neurological and dysmorphic features in a family with brachial plexus neuropathy. 49th Annual Meeting of the American Society of Human Genetics.
Kovach MJ and Landy A (1997) Characterization of protein:DNA interactions of λ- integrase utilizing photocrosslinking and 4-thio-T modified DNA oligomers. Gordon Research Conference on Plasmid and Chromosome dynamics.
Kovach MJ, Beaty BJ, Carlson JO (1995) Somatic cell genetics of mosquito cells. 1995 Vector Biology Network Scientific Institute.
Kovach MJ, Carlson JO, Beaty BJ (1995) Molecular characterization of repetitive DNA fragments isolated from a nuclear matrix fraction of the Aedes albopictus cell line C6/36. Keystone Symposia on Molecular and Cellular Biology:Towards the genetic manipulation of insects.
Kovach MJ, Carlson JO, Beaty BJ (1993) Mosquito Artificial Chromosomes (MACs): A model for studying DNA replication in mosquitoes. Second International Symposia on Molecular Insect Science.


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