Stone EM - Search Results

1

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

Sundaresan P, Vijayalakshmi P, Thompson S, Ko AC, Fingert JH, Stone EM. Sundaresan P, et al. Among authors: stone em. Mol Vis. 2009 Sep 4;15:1781-7. Mol Vis. 2009. PMID: 19753312 Free PMC article.

2

Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1).

Brown J Jr, Fingert JH, Taylor CM, Lake M, Sheffield VC, Stone EM. Brown J Jr, et al. Among authors: stone em. Arch Ophthalmol. 1997 Jan;115(1):95-9. doi: 10.1001/archopht.1997.01100150097016. Arch Ophthalmol. 1997. PMID: 9006432

3

Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1).

Lam BL, Fingert JH, Shutt BC, Singleton EM, Merin LM, Brown HH, Sheffield VC, Stone EM. Lam BL, et al. Among authors: stone em. Ophthalmic Genet. 1997 Dec;18(4):175-84. doi: 10.3109/13816819709041432. Ophthalmic Genet. 1997. PMID: 9457748

4

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A).

Alward WL, Fingert JH, Coote MA, Johnson AT, Lerner SF, Junqua D, Durcan FJ, McCartney PJ, Mackey DA, Sheffield VC, Stone EM. Alward WL, et al. Among authors: stone em. N Engl J Med. 1998 Apr 9;338(15):1022-7. doi: 10.1056/NEJM199804093381503. N Engl J Med. 1998. PMID: 9535666 Free article.

5

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

6

Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly.

Mellott ML, Brown J Jr, Fingert JH, Taylor CM, Keech RV, Sheffield VC, Stone EM. Mellott ML, et al. Among authors: stone em. Arch Ophthalmol. 1999 Dec;117(12):1630-3. doi: 10.1001/archopht.117.12.1630. Arch Ophthalmol. 1999. PMID: 10604668

7

The genetic aspects of adult-onset glaucoma: a perspective from the Greater Toronto area.

Williams-Lyn D, Flanagan J, Buys Y, Trope GE, Fingert J, Stone EM, Héon E. Williams-Lyn D, et al. Among authors: stone em. Can J Ophthalmol. 2000 Feb;35(1):12-7. doi: 10.1016/s0008-4182(00)80103-9. Can J Ophthalmol. 2000. PMID: 10711378

8

Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.

Fingert JH, Clark AF, Craig JE, Alward WL, Snibson GR, McLaughlin M, Tuttle L, Mackey DA, Sheffield VC, Stone EM. Fingert JH, et al. Among authors: stone em. Invest Ophthalmol Vis Sci. 2001 Jan;42(1):145-52. Invest Ophthalmol Vis Sci. 2001. PMID: 11133859

9

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.

Jacobson N, Andrews M, Shepard AR, Nishimura D, Searby C, Fingert JH, Hageman G, Mullins R, Davidson BL, Kwon YH, Alward WL, Stone EM, Clark AF, Sheffield VC. Jacobson N, et al. Among authors: stone em. Hum Mol Genet. 2001 Jan 15;10(2):117-25. doi: 10.1093/hmg/10.2.117. Hum Mol Genet. 2001. PMID: 11152659

10

Mutations in the CRB1 gene cause Leber congenital amaurosis.

Lotery AJ, Jacobson SG, Fishman GA, Weleber RG, Fulton AB, Namperumalsamy P, Héon E, Levin AV, Grover S, Rosenow JR, Kopp KK, Sheffield VC, Stone EM. Lotery AJ, et al. Among authors: stone em. Arch Ophthalmol. 2001 Mar;119(3):415-20. doi: 10.1001/archopht.119.3.415. Arch Ophthalmol. 2001. PMID: 11231775

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