Stone EM - Search Results

1

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

2

Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).

Héon E, Sheth BP, Kalenak JW, Sunden SL, Streb LM, Taylor CM, Alward WL, Sheffield VC, Stone EM. Héon E, et al. Among authors: stone em. Hum Mol Genet. 1995 Aug;4(8):1435-9. doi: 10.1093/hmg/4.8.1435. Hum Mol Genet. 1995. PMID: 7581385

3

Linkage of posterior polymorphous corneal dystrophy to 20q11.

Héon E, Mathers WD, Alward WL, Weisenthal RW, Sunden SL, Fishbaugh JA, Taylor CM, Krachmer JH, Sheffield VC, Stone EM. Héon E, et al. Among authors: stone em. Hum Mol Genet. 1995 Mar;4(3):485-8. doi: 10.1093/hmg/4.3.485. Hum Mol Genet. 1995. PMID: 7795607

4

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

Gorin MB, Jackson KE, Ferrell RE, Sheffield VC, Jacobson SG, Gass JD, Mitchell E, Stone EM. Gorin MB, et al. Among authors: stone em. Ophthalmology. 1995 Feb;102(2):246-55. doi: 10.1016/s0161-6420(95)31029-9. Ophthalmology. 1995. PMID: 7862413 Free article.

5

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

6

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

7

Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.

Piguet B, Héon E, Munier FL, Grounauer PA, Niemeyer G, Butler N, Schorderet DF, Sheffield VC, Stone EM. Piguet B, et al. Among authors: stone em. Ophthalmic Genet. 1996 Dec;17(4):175-86. doi: 10.3109/13816819609057891. Ophthalmic Genet. 1996. PMID: 9010868

8

Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy.

Fishman GA, Stone EM, Alexander KR, Gilbert LD, Derlacki DJ, Butler NS. Fishman GA, et al. Among authors: stone em. Ophthalmology. 1997 Feb;104(2):299-306. doi: 10.1016/s0161-6420(97)30320-0. Ophthalmology. 1997. PMID: 9052636

9

Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.

Alward WL, Semina EV, Kalenak JW, Héon E, Sheth BP, Stone EM, Murray JC. Alward WL, et al. Among authors: stone em. Am J Ophthalmol. 1998 Jan;125(1):98-100. doi: 10.1016/s0002-9394(99)80242-6. Am J Ophthalmol. 1998. PMID: 9437321

10

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

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