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Retinitis

Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing

Liping Yang, Hui Cui, Xiaobei Yin, Hongliang Dou, Lin Zhao, Ningning Chen, Jinlu Zhang, Huirong Zhang, Genlin Li, Zhizhong Ma

published 23 Oct 2015

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Routine Eye Screening by an Ophthalmologist Is Clinically Useful for HIV-1-Infected Patients with CD4 Count Less than 200 /μL

Takeshi Nishijima, Shigeko Yashiro, Katsuji Teruya, Yoshimi Kikuchi, Naomichi Katai, Shinichi Oka, Hiroyuki Gatanaga

published 16 Sep 2015

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Distilling a Visual Network of Retinitis Pigmentosa Gene-Protein Interactions to Uncover New Disease Candidates

Daniel Boloc, Sergio Castillo-Lara, Gemma Marfany, Roser Gonzàlez-Duarte, Josep F. Abril

published 12 Aug 2015

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Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

Berta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, Yichuan Liu, Michael March, Renata Pellegrino, Ryan Golhar, Marta Corton, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Jianguo Zhang, Brendan Keating, Xun Xu, Hakon Hakonarson, Carmen Ayuso

published 21 Jul 2015

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Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families

Sundaramurthy Srilekha, Tharigopala Arokiasamy, Natarajan N. Srikrupa, Vetrivel Umashankar, Swaminathan Meenakshi, Parveen Sen, Suman Kapur, Nagasamy Soumittra

published 06 Jul 2015

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Subretinal Fluid in Eyes with Active Ocular Toxoplasmosis Observed Using Spectral Domain Optical Coherence Tomography

Yanling Ouyang, Fuqiang Li, Qing Shao, Florian M. Heussen, Pearse A. Keane, Nicole Stübiger, Srinivas R. Sadda, Uwe Pleyer

published 26 May 2015

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Genotypic and Phenotypic Characterization of P23H Line 1 Rat Model

Elise Orhan, Deniz Dalkara, Marion Neuillé, Christophe Lechauve, Christelle Michiels, Serge Picaud, Thierry Léveillard, José-Alain Sahel, Muna I. Naash, Matthew M. Lavail, Christina Zeitz, Isabelle Audo

published 26 May 2015

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Effect of Purified Murine NGF on Isolated Photoreceptors of a Rodent Developing Retinitis Pigmentosa

Maria Luisa Rocco, Bijorn Omar Balzamino, Pamela Petrocchi Passeri, Alessandra Micera, Luigi Aloe

published 21 Apr 2015

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Homogeneity Test for Correlated Binary Data

Changxing Ma, Guogen Shan, Song Liu

published 21 Apr 2015

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Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients

Zied Riahi, Crystel Bonnet, Rim Zainine, Saida Lahbib, Yosra Bouyacoub, Rym Bechraoui, Jihène Marrakchi, Jean-Pierre Hardelin, Malek Louha, Leila Largueche, Salim Ben Yahia, Moncef Kheirallah, Leila Elmatri, Ghazi Besbes, Sonia Abdelhak, Christine Petit

published 23 Mar 2015

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Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

Maleeha Maria, Muhammad Ajmal, Maleeha Azam, Nadia Khalida Waheed, Sorath Noorani Siddiqui, Bilal Mustafa, Humaira Ayub, Liaqat Ali, Shakeel Ahmad, Shazia Micheal, Alamdar Hussain, Syed Tahir Abbas Shah, Syeda Hafiza Benish Ali, Waqas Ahmed, Yar Muhammad Khan, Anneke I. den Hollander, Lonneke Haer-Wigman, Rob W. J. Collin, Muhammad Imran Khan, Raheel Qamar, Frans P. M. Cremers

published 16 Mar 2015

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Distribution and Determinants of Cytomegalovirus Induced End Organ Disease/s among People Living with HIV/AIDS in a Poor Resource Setting: Observation from India

Avirup Chakraborty, Tanmay Mahapatra, Sanchita Mahapatra, Sabbir Ansari, Sattik Siddhanta, Siwalik Banerjee, Dipanjan Banerjee, Rathindra Nath Sarkar, Subhashish Kamal Guha, Nilanjan Chakraborty

published 13 Feb 2015

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Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies

María González-del Pozo, Cristina Méndez-Vidal, Nereida Bravo-Gil, Alicia Vela-Boza, Joaquin Dopazo, Salud Borrego, Guillermo Antiñolo

published 29 Dec 2014

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