Kramer PL - Search Results

1

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.

2

The CEPH consortium linkage map of human chromosome 11.

Litt M, Kramer P, Kort E, Fain P, Cox S, Root D, White R, Weissenbach J, Donis-Keller H, Gatti R, et al. Litt M, et al. Genomics. 1995 May 1;27(1):101-12. doi: 10.1006/geno.1995.1011. Genomics. 1995. PMID: 7665156 Free article.

3

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.

4

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. Am J Hum Genet. 1992 Nov;51(5):1036-46. Am J Hum Genet. 1992. PMID: 1357963 Free PMC article.

5

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

6

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.

7

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. Hum Mol Genet. 1993 Jul;2(7):909-13. doi: 10.1093/hmg/2.7.909. Hum Mol Genet. 1993. PMID: 8364573

8

Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13.

Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, Nardocci N, Davis S, Pineda M, Hattori H, Flett PJ, Cilio MR, Bertini E, Hayflick SJ. Taylor TD, et al. Nat Genet. 1996 Dec;14(4):479-81. doi: 10.1038/ng1296-479. Nat Genet. 1996. PMID: 8944032

9

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

10

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. 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.

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