Stone EM - Search Results

1

Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.

DeLuca AP, Whitmore SS, Barnes J, Sharma TP, Westfall TA, Scott CA, Weed MC, Wiley JS, Wiley LA, Johnston RM, Schnieders MJ, Lentz SR, Tucker BA, Mullins RF, Scheetz TE, Stone EM, Slusarski DC. DeLuca AP, et al. Among authors: stone em. Hum Mol Genet. 2016 Jan 1;25(1):44-56. doi: 10.1093/hmg/ddv446. Epub 2015 Oct 22. Hum Mol Genet. 2016. PMID: 26494905 Free PMC article.

2

Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13.

Stone EM, Kimura AE, Folk JC, Bennett SR, Nichols BE, Streb LM, Sheffield VC. Stone EM, et al. Hum Mol Genet. 1992 Dec;1(9):685-9. doi: 10.1093/hmg/1.9.685. Hum Mol Genet. 1992. PMID: 1284594

3

Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.

Sheffield VC, Fishman GA, Beck JS, Kimura AE, Stone EM. Sheffield VC, et al. Among authors: stone em. Am J Hum Genet. 1991 Oct;49(4):699-706. Am J Hum Genet. 1991. PMID: 1897520 Free PMC article.

4

Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy).

Brown DM, Vandenburgh K, Kimura AE, Weingeist TA, Sheffield VC, Stone EM. Brown DM, et al. Among authors: stone em. Hum Mol Genet. 1995 Jan;4(1):141-2. doi: 10.1093/hmg/4.1.141. Hum Mol Genet. 1995. PMID: 7711727 No abstract available.

5

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.

Sheffield VC, Carmi R, Kwitek-Black A, Rokhlina T, Nishimura D, Duyk GM, Elbedour K, Sunden SL, Stone EM. Sheffield VC, et al. Among authors: stone em. Hum Mol Genet. 1994 Aug;3(8):1331-5. doi: 10.1093/hmg/3.8.1331. Hum Mol Genet. 1994. PMID: 7987310

6

Mutation analysis of the ROM1 gene in retinitis pigmentosa.

Bascom RA, Liu L, Heckenlively JR, Stone EM, McInnes RR. Bascom RA, et al. Among authors: stone em. Hum Mol Genet. 1995 Oct;4(10):1895-902. doi: 10.1093/hmg/4.10.1895. Hum Mol Genet. 1995. PMID: 8595413

7

A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands.

Nystuen A, Benke PJ, Merren J, Stone EM, Sheffield VC. Nystuen A, et al. Among authors: stone em. Hum Mol Genet. 1996 Apr;5(4):525-31. doi: 10.1093/hmg/5.4.525. Hum Mol Genet. 1996. PMID: 8845847

8

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.

Sheffield VC, Pierpont ME, Nishimura D, Beck JS, Burns TL, Berg MA, Stone EM, Patil SR, Lauer RM. Sheffield VC, et al. Among authors: stone em. Hum Mol Genet. 1997 Jan;6(1):117-21. doi: 10.1093/hmg/6.1.117. Hum Mol Genet. 1997. PMID: 9002679

9

Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.

Arbour NC, Zlotogora J, Knowlton RG, Merin S, Rosenmann A, Kanis AB, Rokhlina T, Stone EM, Sheffield VC. Arbour NC, et al. Among authors: stone em. Hum Mol Genet. 1997 May;6(5):689-94. doi: 10.1093/hmg/6.5.689. Hum Mol Genet. 1997. PMID: 9158143

10

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.

Fingert JH, Héon E, Liebmann JM, Yamamoto T, Craig JE, Rait J, Kawase K, Hoh ST, Buys YM, Dickinson J, Hockey RR, Williams-Lyn D, Trope G, Kitazawa Y, Ritch R, Mackey DA, Alward WL, Sheffield VC, Stone EM. Fingert JH, et al. Among authors: stone em. Hum Mol Genet. 1999 May;8(5):899-905. doi: 10.1093/hmg/8.5.899. Hum Mol Genet. 1999. PMID: 10196380

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