Kramer P - Search Results

1

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: kramer p. 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.

2

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. Among authors: kramer p. Am J Hum Genet. 1994 Oct;55(4):702-9. Am J Hum Genet. 1994. PMID: 7942848 Free PMC article.

3

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. Among authors: kramer p. Hum Mol Genet. 1997 May;6(5):665-8. doi: 10.1093/hmg/6.5.665. Hum Mol Genet. 1997. PMID: 9158139

4

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. Among authors: kramer p. Hum Mol Genet. 1998 Mar;7(3):471-4. doi: 10.1093/hmg/7.3.471. Hum Mol Genet. 1998. PMID: 9467006

5

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. Invest Ophthalmol Vis Sci. 2000 Jan;41(1):36-9. Invest Ophthalmol Vis Sci. 2000. PMID: 10634598

6

High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus.

Zonana J, Jones M, Browne D, Litt M, Kramer P, Becker HW, Brockdorff N, Rastan S, Davies KP, Clarke A, et al. Zonana J, et al. Among authors: kramer p. Am J Hum Genet. 1992 Nov;51(5):1036-46. Am J Hum Genet. 1992. PMID: 1357963 Free PMC article.

7

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: kramer p. Nat Genet. 1994 Oct;8(2):136-40. doi: 10.1038/ng1094-136. Nat Genet. 1994. PMID: 7842011

8

A microsatellite-based index map of human chromosome 11.

Litt M, Kramer P, Hauge XY, Weber JL, Wang Z, Wilkie PJ, Holt MS, Mishra S, Donis-Keller H, Warnich L, et al. Litt M, et al. Among authors: kramer p. Hum Mol Genet. 1993 Jul;2(7):909-13. doi: 10.1093/hmg/2.7.909. Hum Mol Genet. 1993. PMID: 8364573

9

A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22.

Kramer P, Yount J, Mitchell T, LaMorticella D, Carrero-Valenzuela R, Lovrien E, Maumenee I, Litt M. Kramer P, et al. Genomics. 1996 Aug 1;35(3):539-42. doi: 10.1006/geno.1996.0395. Genomics. 1996. PMID: 8812489 Free article.

10

Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q.

Kramer PL, Luty JA, Litt M. Kramer PL, et al. Genomics. 1992 Jul;13(3):904-5. doi: 10.1016/0888-7543(92)90185-u. Genomics. 1992. PMID: 1639426 No abstract available.

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