Stone EM - Search Results

1

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

Craig JE, Baird PN, Healey DL, McNaught AI, McCartney PJ, Rait JL, Dickinson JL, Roe L, Fingert JH, Stone EM, Mackey DA. Craig JE, et al. Among authors: stone em. Ophthalmology. 2001 Sep;108(9):1607-20. doi: 10.1016/s0161-6420(01)00654-6. Ophthalmology. 2001. PMID: 11535458

2

Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma.

Johnson AT, Drack AV, Kwitek AE, Cannon RL, Stone EM, Alward WL. Johnson AT, et al. Among authors: stone em. Ophthalmology. 1993 Apr;100(4):524-9. doi: 10.1016/s0161-6420(13)31615-7. Ophthalmology. 1993. PMID: 8479711

3

Identification of a gene that causes primary open angle glaucoma.

Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC. Stone EM, et al. Science. 1997 Jan 31;275(5300):668-70. doi: 10.1126/science.275.5300.668. Science. 1997. PMID: 9005853

4

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

5

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

6

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.

7

Characterization and comparison of the human and mouse GLC1A glaucoma genes.

Fingert JH, Ying L, Swiderski RE, Nystuen AM, Arbour NC, Alward WL, Sheffield VC, Stone EM. Fingert JH, et al. Among authors: stone em. Genome Res. 1998 Apr;8(4):377-84. doi: 10.1101/gr.8.4.377. Genome Res. 1998. PMID: 9548973 Free PMC article.

8

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

9

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

10

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

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