Litt M - Search Results

1

Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.

Jakobs PM, Hanson EL, Crispell KA, Toy W, Keegan H, Schilling K, Icenogle TB, Litt M, Hershberger RE. Jakobs PM, et al. Among authors: litt m. J Card Fail. 2001 Sep;7(3):249-56. doi: 10.1054/jcaf.2001.26339. J Card Fail. 2001. PMID: 11561226

2

Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.

Jakobs PM, Hess JF, FitzGerald PG, Kramer P, Weleber RG, Litt M. Jakobs PM, et al. Among authors: litt m. Am J Hum Genet. 2000 Apr;66(4):1432-6. doi: 10.1086/302872. Epub 2000 Mar 16. Am J Hum Genet. 2000. PMID: 10739768 Free PMC article.

3

Fifty-four new gene-based canine microsatellite markers.

Litt M, Bestwick ML, Winther MJ, Jakobs PM. Litt M, et al. J Hered. 2005;96(7):843-6. doi: 10.1093/jhered/esi090. Epub 2005 Jun 15. J Hered. 2005. PMID: 15958789

4

A new locus for autosomal dominant congenital cataracts maps to chromosome 3.

Kramer PL, LaMorticella D, Schilling K, Billingslea AM, Weleber RG, Litt M. Kramer PL, et al. Among authors: litt m. Invest Ophthalmol Vis Sci. 2000 Jan;41(1):36-9. Invest Ophthalmol Vis Sci. 2000. PMID: 10634598

5

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.

Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG. Litt M, et al. Hum Mol Genet. 1998 Mar;7(3):471-4. doi: 10.1093/hmg/7.3.471. Hum Mol Genet. 1998. PMID: 9467006

6

Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.

Browne DL, Brunt ER, Griggs RC, Nutt JG, Gancher ST, Smith EA, Litt M. Browne DL, et al. Among authors: litt m. Hum Mol Genet. 1995 Sep;4(9):1671-2. doi: 10.1093/hmg/4.9.1671. Hum Mol Genet. 1995. PMID: 8541859 No abstract available.

7

A gene for episodic ataxia/myokymia maps to chromosome 12p13.

Litt M, Kramer P, Browne D, Gancher S, Brunt ER, Root D, Phromchotikul T, Dubay CJ, Nutt J. Litt M, et al. Am J Hum Genet. 1994 Oct;55(4):702-9. Am J Hum Genet. 1994. PMID: 7942848 Free PMC article.

8

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.

Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M. Browne DL, et al. Among authors: litt m. Nat Genet. 1994 Oct;8(2):136-40. doi: 10.1038/ng1094-136. Nat Genet. 1994. PMID: 7842011

9

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.

Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH. Litt M, et al. Hum Mol Genet. 1997 May;6(5):665-8. doi: 10.1093/hmg/6.5.665. Hum Mol Genet. 1997. PMID: 9158139

10

Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3.

Carrero-Valenzuela RD, Klein ML, Weleber RG, Murphey WH, Litt M. Carrero-Valenzuela RD, et al. Among authors: litt m. Arch Ophthalmol. 1996 Jun;114(6):737-8. doi: 10.1001/archopht.1996.01100130729016. Arch Ophthalmol. 1996. PMID: 8639088

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