Volume 35; Issue 3

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Ophthalmic Genetics
Volume 35; Issue 3

Ophthalmic Genetics

Volume 35; Issue 3

1

Childhood Cone-rod Dystrophy with Macular Cystic Degeneration from Recessive CRB1 Mutation

Khan, Arif O., Aldahmesh, Mohammed A., Abu-Safieh, Leen, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2014

Language:

english

File:

PDF, 577 KB

english, 2014

2

The Role of Fundus Autofluorescence in Late-Onset Retinitis Pigmentosa (LORP) Diagnosis

Lee, Tamara J., Hwang, John C., Chen, Royce W. S., Lima, Luiz H., Wang, Nan-Kai, Tosi, Joaquin, Freund, K. Bailey, Yannuzzi, Lawrence A., Tsang, Stephen H.

Journal:

Ophthalmic Genetics

Year:

2014

Language:

english

File:

PDF, 961 KB

english, 2014

3

Association of Specific Genetic Polymorphisms with Age-related Macular Degeneration in a Northern Chinese Population

Zhuang, Wenjuan, Li, HuiPing, Liu, Yani, Zhao, Jingjing, Ha, Shaoping, Xiang, Wei, Bai, Xuewei, Li, Zili, Han, Ying, Sheng, Xunlun

Journal:

Ophthalmic Genetics

Year:

2014

Language:

english

File:

PDF, 104 KB

english, 2014

4

Genetic Variants in the SKIV2L Gene in Exudative Age-related Macular Degeneration in the Japanese Population

Yoneyama, Seigo, Sakurada, Yoichi, Mabuchi, Fumihiko, Sugiyama, Atsushi, Kubota, Takeo, Iijima, Hiroyuki

Journal:

Ophthalmic Genetics

Year:

2014

Language:

english

File:

PDF, 104 KB

english, 2014

5

Next-generation Sequencing Revealed a Novel Mutation in the Gene Encoding the Beta Subunit of Rod Phosphodiesterase

Shen, Sherry, Sujirakul, Tharikarn, Tsang, Stephen H.

Journal:

Ophthalmic Genetics

Year:

2014

Language:

english

File:

PDF, 863 KB

english, 2014

6

Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant

Savarese, Marco, Spinelli, Elide, Gandolfo, Federico, Lemma, Valentina, Di Fruscio, Giuseppina, Padoan, Rita, Morescalchi, Francesco, D’Agostino, Massimo, Savoldi, Gianfranco, Semeraro, Francesco, Nig

Journal:

Ophthalmic Genetics

Year:

2014

Language:

english

File:

PDF, 174 KB

english, 2014

7

Axial Length’s Role in Intraocular Lens Power Calculation Error in X-linked Megalocornea: A Case-series Analysis

Parra-Colín, Paola De la, Barrientos-Gutierrez, Tonatiuh, Mian, Shahzad I.

Journal:

Ophthalmic Genetics

Year:

2014

Language:

english

File:

PDF, 188 KB

english, 2014

8

Mutational Screening of FOXE3, GDF3, ATOH7 , and ALDH1A3 in Congenital Ocular Malformations. Possible Contribution of the FOXE3 p.VAL201MET Variant to the Risk of Severe Eye Malformations

Garcia-Montalvo, Ivan A., Pelcastre-Luna, Erika, Nelson-Mora, Janikua, Buentello-Volante, Beatriz, Miranda-Duarte, Antonio, Zenteno, Juan C.

Journal:

Ophthalmic Genetics

Year:

2014

Language:

english

File:

PDF, 187 KB

english, 2014

9

Association of Transcription Factor 4 (TCF4 ) and Protein Tyrosine Phosphatase, Receptor Type G (PTPRG ) with Corneal Dystrophies in Southern Chinese

Wang, Kai Jie, Jhanji, Vishal, Chen, Jianhuan, Law, Ricky Wai-Kei, Leung, Alfred Tai-Shing, Zhang, Mingzhi, Wang, Ningli, Pang, Chi-Pui, Yam, Gary Hin-Fai

Journal:

Ophthalmic Genetics

Year:

2014

Language:

english

File:

PDF, 80 KB

english, 2014

10

Microdeletions involving Chromosomes 12 and 22 Associated with Syndromic Duane Retraction Syndrome

Abu-Amero, Khaled K., Kondkar, Altaf A., Oystreck, Darren T., Khan, Arif O., Bosley, Thomas M.

Journal:

Ophthalmic Genetics

Year:

2014

Language:

english

File:

PDF, 705 KB

english, 2014

11

Complete Aniridia with Central Keratopathy and Congenital Glaucoma is a CYP1B1- related Phenotype

Khan, Arif O., Aldahmesh, Mohammed A., Mohamed, Jawahir Y., Hijazi, Hadia, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2014

Language:

english

File:

PDF, 612 KB

english, 2014

12

In Memoriam Maria Musarella

Héon, Elise, Levin, Alex, MacDonald, Ian M.

Journal:

Ophthalmic Genetics

Year:

2014

Language:

english

File:

PDF, 202 KB

english, 2014