Volume 21; Issue 1

Main
Ophthalmic Genetics
Volume 21; Issue 1

Ophthalmic Genetics

Volume 21; Issue 1

1

Morning glory disk anomaly, choroidal coloboma, and congenital constrictive malformations of the internal carotid arteries (moyamoya disease)

Krishnan, Chadrasekharan, Roy, Anindiya, Traboulsi, Elias I.

Journal:

Ophthalmic Genetics

Year:

2000

Language:

english

File:

PDF, 144 KB

english, 2000

2

Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome Type I

Sotirova, Vihra N., Rezaie, Tayebeh, Khoshsorour, M.R., Sarfarazi, Mansoor

Journal:

Ophthalmic Genetics

Year:

2000

Language:

english

File:

PDF, 132 KB

english, 2000

3

Microfibril abnormalities of the lens capsule in patients with Marfan syndrome and ectopia lentis

Traboulsi, Elias I., Whittum-Hudson, Judith A., Mir, Sammy, Maumenee, Irene H.

Journal:

Ophthalmic Genetics

Year:

2000

Language:

english

File:

PDF, 400 KB

english, 2000

4

Summary of heritable ocular disorders and selected systemic conditions with eye findings

MacDonald, I.M., Mah, D.Y.

Journal:

Ophthalmic Genetics

Year:

2000

Language:

english

File:

PDF, 235 KB

english, 2000

5

Familial occurrence of artefactual ocular hypertension from thick corneas and of primary open angle glaucoma in a French Canadian kindred

Dohadwala, Ali A., Damji, Karim F.

Journal:

Ophthalmic Genetics

Year:

2000

Language:

english

File:

PDF, 183 KB

english, 2000

6

List of reviewers 1999

Journal:

Ophthalmic Genetics

Year:

2000

Language:

english

File:

PDF, 25 KB

english, 2000

7

Kabuki syndrome – Report of six cases and review of the literature with emphasis on ocular features

Kluijt, I., van Dorp, D.B., Kwee, M.L., Toutain, A., Keppler-Noreuil, K., Warburg, M., Bitoun, P.

Journal:

Ophthalmic Genetics

Year:

2000

Language:

english

File:

PDF, 309 KB

english, 2000

8

Corneal transplantation in a patient with mucopolysaccharidosis type VII (Sly disease)

Bergwerk, Katherine, Falk, Rena E., Glasgow, Ben J., Rabinowitz, Yaron S.

Journal:

Ophthalmic Genetics

Year:

2000

Language:

english

File:

PDF, 254 KB

english, 2000

9

Haplotype analysis of Japanese families with a superficial variant of granular corneal dystrophy: evidence for multiple origins of R124L mutation of kerato-epithelin

Korvatska, Elena, Yamada, Masakazu, Yamamoto, Shuji, Okada, Masaki, Munier, Francis L., Schorderet, Daniel F., Mashima, Yukihiko

Journal:

Ophthalmic Genetics

Year:

2000

Language:

english

File:

PDF, 85 KB

english, 2000