Volume 36; Issue 1

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Ophthalmic Genetics
Volume 36; Issue 1

Ophthalmic Genetics

Volume 36; Issue 1

1

A Novel CYP1B1 Mutation with Congenital Glaucoma and Total Aniridia

Alzuhairy, Sultan, Abu-Amero, Khaled K., Al-Shahwan, Sami, Edward, Deepak P.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 168 KB

english, 2015

2

A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from Recessive KCNJ13 Mutations

Khan, Arif O., Bergmann, Carsten, Neuhaus, Christine, Bolz, Hanno J.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 477 KB

english, 2015

3

Recessive Mutations in LEPREL1 Underlie a Recognizable Lens Subluxation Phenotype

Khan, Arif O., Aldahmesh, Mohammed A., Alsharif, Hadeel, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 265 KB

english, 2015

4

Perceptions and Understanding of Genetics and Genetic Eye Disease and Attitudes to Genetic Testing and Gene Therapy in a Primary Eye Care Setting

Ganne, Pratyusha, Garrioch, Robert, Votruba, Marcela

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 289 KB

english, 2015

5

The Effect of MTHFR Ala222Val Polymorphism on Open-angle Glaucoma: A Meta-analysis

Zhao, Rong, Yin, Dongchen, Wang, Enpu, Si, Bingxin

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 427 KB

english, 2015

6

Association of SOD2 Polymorphisms with Primary Open Angle Glaucoma in a Chinese Population

Zhou, Yu, Shuai, Ping, Li, Xiulan, Liu, Xiaoqi, Wang, Jin, Yang, Yin, Hao, Fang, Lin, He, Zhang, Dingding, Gong, Bo

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 226 KB

english, 2015

7

A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1

Reis, Linda M., Tyler, Rebecca C., Zori, Roberto, Burgess, Jennifer, Mueller, Jennifer, Semina, Elena V.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 84 KB

english, 2015

8

Clinical and Genetic Identification of a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa

Yang, Yezhen, Tian, Di, Lee, Janet, Zeng, Jing, Zhang, Huiming, Chen, Siying, Guo, Hui, Xiong, Zhiming, Xia, Kun, Hu, Zhengmao, Luo, Jing

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 415 KB

english, 2015

9

Evaluating the Association between Pathological Myopia and SNPs in RASGRF1. ACTC1 and GJD2 Genes at Chromosome 15q14 and 15q25 in a Chinese Population

Chen, Chong-da, Yu, Zhi-qiang, Chen, Xue-li, Zhou, Jia-qi, Zhou, Xing-tao, Sun, Xing-huai, Chu, Ren-yuan

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 122 KB

english, 2015

10

Cataract and Glaucoma Development in Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)

Nielsen, Anders K., Drack, Arlene V., Ostergaard, John R.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 155 KB

english, 2015

11

De novo Mutations in the Cone-rod Homeobox Gene Associated with Leber Congenital Amaurosis in Chinese Patients

Zou, Xuan, Yao, Fengxia, Liang, Xiaofang, Xu, Fei, Li, Hui, Sui, Ruifang, Dong, Fangtian

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 1.14 MB

english, 2015

12

Oliver-McFarlane Syndrome in a Chinese Boy: Retinitis Pigmentosa, Trichomegaly, Hair Anomalies and Mental Retardation

Sheng, Xunlun, Zhang, Shuang, Peter Boergen, Klaus, Li, Huiping, Liu, Yani

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 824 KB

english, 2015

13

Lens Subluxation and Retinal Dysfunction in a Girl with Homozygous VSX2 Mutation

Khan, Arif O., Aldahmesh, Mohammed A., Noor, Jawaher, Salem, Ahmed, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 742 KB

english, 2015

14

Mosaic Chromosome 18q Partial Deletion Syndrome with Bilateral Full-thickness Corneal Disease: Surgical Intervention and Histopathology

Galvin, Jennifer A., LeBoyer, Russell M., Michelotti, Monica, Monte, Monte A. Del, Elner, Victor M., Mian, Shazad I.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 533 KB

english, 2015

15

Iris Flocculi as an Ocular Marker of ACTA2 Mutation in Familial Thoracic Aortic Aneurysms and Dissections

Chamney, Sarah, McGimpsey, Stuart, McConnell, Vivienne, Willoughby, Colin E.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 533 KB

english, 2015

16

MYOC Mutations in Black South African Patients with Primary Open-angle Glaucoma: Genetic Testing and Cascade Screening

Williams, Susan Eileen Isabella, Carmichael, Trevor Robin, Wainstein, Tasha, Hobbs, Angela, Ramsay, Michele

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 232 KB

english, 2015

17

Independent Origin of c.57 C > T Mutation in MIR184 Associated with Inherited Corneal and Lens Abnormalities

Bykhovskaya, Yelena, Seldin, Michael F., Liu, Yutao, Ransom, Michael, Li, Xiaohui, Rabinowitz, Yaron S.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 100 KB

english, 2015

18

Partial Duplication of Chromosome 19 Associated with Syndromic Duane Retraction Syndrome

Abu-Amero, Khaled K., Kondkar, Altaf A., Al Otaibi, Abdullah, Alorainy, Ibrahim A., Khan, Arif O., Hellani, Ali M., Oystreck, Darren T., Bosley, Thomas M.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 689 KB

english, 2015

19

Macular Cysts in Clinical Cone-rod Dystrophy

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 50 KB

english, 2015

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