Volume 32; Issue 1

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Ophthalmic Genetics
Volume 32; Issue 1

Ophthalmic Genetics

Volume 32; Issue 1

1

RPGR: Role in the photoreceptor cilium, human retinal disease, and gene therapy

Hosch, Jutta, Lorenz, Birgit, Stieger, Knut

Journal:

Ophthalmic Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 935 KB

english, 2011

2

Myocilin mt.1 gene promoter single nucleotide polymorphism (-1000C>G) in Brazilian patients with primary open angle glaucoma

Kasahara, Niro, Caixeta-Umbelino, Cristiano, Paolera, Maurício D., Rocha, Mylene N., Richeti, Flávio, Vasconcellos, José P.C., Cohen, Ralph, Costa, Vital P., Longui, Carlos A., Melo, Murilo R., Melo,

Journal:

Ophthalmic Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 574 KB

english, 2011

3

Central retinal vein occlusion as the initial manifestation of LHON / MELAS overlap syndrome with mitochondrial DNA G13513A mutation—Case report and literature review

Hsieh, Yi-Ting, Yang, Ming-Tao, Peng, Yi-Jie, Hsu, Wei-Cherng

Journal:

Ophthalmic Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 992 KB

english, 2011

4

Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract

He, Wei, Li, Xin, Chen, Jiajing, Xu, Ling, Zhang, Feng, Dai, Qiushi, Cui, Hao, Wang, Duen-Mei, Yu, Jun, Hu, Songnian, Lu, Shan

Journal:

Ophthalmic Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 870 KB

english, 2011

5

Expression of double strand DNA breaks repair genes in pterygium

Łękawa–Ilczuk, Anna, Antosz, Halina, Rymgayłło–Jankowska, Beata, Żarnowski, Tomasz

Journal:

Ophthalmic Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 690 KB

english, 2011

6

Giant Macular Hole in Alport Syndrome

Journal:

Ophthalmic Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 471 KB

english, 2011

7

A novel nonsense mutation in Rhodopsin gene in two Indonesian Families with Autosomal Recessive Retinitis Pigmentosa

Kartasasmita, Arief, Fujiki, Keiko, Iskandar, Erwin, Sovani, Iwan, Fujimaki, Takuro, Murakami, Akira

Journal:

Ophthalmic Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2011

8

OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations

Chacon-Camacho, Oscar F., Camarillo-Blancarte, Leyla, Zenteno, Juan C.

Journal:

Ophthalmic Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 1.08 MB

english, 2011

9

Juvenile xanthogranuloma of the corneoscleral limbus: report of two cases

De Keyser, Christophe, Maudgal, Prabhat, Legius, Eric, Van Ginderdeuren, Rita, Casteels, Ingele

Journal:

Ophthalmic Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 636 KB

english, 2011

10

Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): A case-series

Rinaldi, Michele, Buscarini, Elisabetta, Danesino, Cesare, Chiosi, Flavia, De Benedictis, Antonella, Porcellini, Antonio, Costagliola, Ciro

Journal:

Ophthalmic Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 897 KB

english, 2011