Volume 36; Issue 2

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Ophthalmic Genetics
Volume 36; Issue 2

Ophthalmic Genetics

Volume 36; Issue 2

1

Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son

Arcot Sadagopan, Karthikeyan, Battista, Robert, Keep, Rosanne B., Capasso, Jenina E., Levin, Alex V.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

2

Neurodegenerative Genes Polymorphisms of the -491A/T APOE , the -877T/C APP and the Risk of Primary Open-angle Glaucoma in the Polish Population

Nowak, Alicja, Przybylowska-Sygut, Karolina, Gacek, Mira, Kaminska, Anna, Szaflik, Jacek P., Szaflik, Jerzy, Majsterek, Ireneusz

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 148 KB

english, 2015

3

CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia

Abu-Amero, Khaled K., Morales, Jose, Aljasim, Leyla A., Edward, Deepak P.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 96 KB

english, 2015

4

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K)

Katagiri, Satoshi, Hayashi, Takaaki, Yoshitake, Kazutoshi, Sergeev, Yuri, Akahori, Masakazu, Furuno, Masaaki, Nishino, Jo, Ikeo, Kazuho, Tsunoda, Kazushige, Tsuneoka, Hiroshi, Iwata, Takeshi

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 458 KB

english, 2015

5

Ophthalmological Findings in 6p Deletion Syndrome

Cornelis, Tine, Rayyan, Maissa, Devriendt, Koenraad, Casteels, Ingele

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 128 KB

english, 2015

6

The Role of Matrix Metalloproteinases Polymorphisms in Age-Related Macular Degeneration

Liutkeviciene, Rasa, Lesauskaite, Vaiva, Sinkunaite-Marsalkiene, Giedre, Zaliuniene, Dalia, Zaliaduonyte-Peksiene, Diana, Mizariene, Vaida, Gustiene, Olivija, Jasinskas, Vytautas, Jariene, Giedre, Tam

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 148 KB

english, 2015

7

Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population

Hao, Xiao-Dan, Chen, Peng, Chen, Zhao-Li, Li, Su-Xia, Wang, Ye

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 105 KB

english, 2015

8

Familial Moniliform Blepharosis: Clinical, Histopathological and Genetic Correlation*

Ranjan, Pratyush, Mishra, Deepak, Plesec, Thomas, Pratap, Vir B., Singh, Arun D.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 495 KB

english, 2015

9

Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients

Cebulla, Colleen M., Binkley, Elaine M., Pilarski, Robert, Massengill, James B., Rai, Karan, Liebner, David A., Marino, Meghan J., Singh, Arun D., Abdel-Rahman, Mohamed H.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 212 KB

english, 2015

10

Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy

Sodi, Andrea, Murro, Vittoria, Caporossi, Orsola, Passerini, Ilaria, Bacci, Giacomo Maria, Caputo, Roberto, Menchini, Ugo

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 569 KB

english, 2015

11

Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family

Yahalom, Claudia, Sharon, Dror, Dalia, Eli, Simhon, Shiran Ben, Shemesh, Efrat, Blumenfeld, Anat

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 686 KB

english, 2015

12

Bilateral Concordance of the Fundus Hyperautofluorescent Ring in Typical Retinitis Pigmentosa Patients

Sujirakul, Tharikarn, Davis, Richard, Erol, Deniz, Zhang, Lijuan, Schillizzi, Giuseppe, Royo-Dujardin, Leticia, Shen, Sherry, Tsang, Stephen

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 780 KB

english, 2015

13

Association of SOD2 Mutation (c.47T > C) with Various Primary Angle Closure Glaucoma Clinical Indices

Abu-Amero, Khaled K., Azad, Taif Anwar, Mousa, Ahmed, Osman, Essam A., Sultan, Tahira, Al-Obeidan, Saleh A.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 94 KB

english, 2015

14

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome

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

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 499 KB

english, 2015

15

X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8)

Han, Jonathan, Young, Jonathan W., Frausto, Ricardo F., Isenberg, Sherwin J., Aldave, Anthony J.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 1.27 MB

english, 2015

16

Estrogen-related Polymorphisms in Estonian Patients with Age-related Cataract

Škiljić, Dragana, Nilsson, Staffan, Seibt Palmér, Mona, Tasa, Gunnar, Juronen, Erkki, Behndig, Anders, Karlsson, Jan-Olof, Petersen, Anne, Zetterberg, Henrik, Zetterberg, Madeleine

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 398 KB

english, 2015

17

Axial Lengths in Children with Recessive Cornea Plana

Al Hazimi, Amro, Khan, Arif O.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 390 KB

english, 2015