Search Results - "inherited retinal dystrophy"

The Impacts of Caregiving for Patients with X-Linked Retinitis Pigmentosa (XLRP): Findings from the EXPLORE XLRP-2 Study

Weber, Michel^{Aff1, Aff2}, Parmeggiani, Francesco^{Aff3, Aff4}, Bremond-Gignac, Dominique^{Aff5, Aff6}, Daly, Avril, Lahaye, Marjolein, Lotery, Andrew, Paudel, Nabin, Ritter, Markus, de la Rúa, Enrique Rodríguez^{Aff11, Aff12}, Rotenstreich, Ygal^{Aff13, Aff14, Aff15}, Sankila, Eeva-Marja, Stingl, Katarina^{Aff17, Aff18}, Van Denderen, Jacqueline, Denee, Tom, Pungor, Katalin^{Aff19, IDs12325025031966_cor1}

Relatively preserved retinal function in RPE65-associated retinopathy: a case report

Mizobuchi, Kei^{Aff1, IDs10633025100074_cor1}, Hayashi, Takaaki^{Aff1, Aff2}, Kameya, Shuhei, Ohta, Yuri, Kuribayashi, Kohei, Shinoda, Kei

The BXD32 Mouse: A High-Fidelity Model of Chronic Retinal Inflammation and Photoreceptor Degeneration

Hollingsworth, T. J.^{Aff14, Aff15, Aff16, Aff17}, Meshkat, Bahar^{Aff14, Aff18}, Wang, Xiangdi^Aff14, White, William A.^Aff14, Marquez-Wilkins, Esther^Aff15, Jablonski, Monica M.^{Aff14, Aff15, Aff17, Aff18, Aff19, Aff20}

Dong, Haidong, Series Editor^Aff1, Radeke, Heinfried H., Series Editor^Aff2, Rezaei, Nima, Series Editor^Aff3, Steinlein, Ortrud, Series Editor^Aff4, Xiao, Junjie, Series Editor^Aff5, Rosenhouse-Dantsker, Avia, Series Editor^Aff6, Gerlai, Robert, Series Editor^Aff7, Bowes Rickman, Catherine, editor^Aff8, Grimm, Christian, editor^Aff9, Anderson, Robert E., editor^Aff10, Ash, John D., editor^Aff11, Pierce, Eric, editor^Aff12, Hollyfield, Joe G., editor^Aff13

Ocular genetics in the Japanese population

Hotta, Yoshihiro^{Aff1, IDs10384024011098_cor1}, Torii, Kaoruko, Takayama, Masakazu

Specification of variant interpretation guidelines for inherited retinal dystrophy in Japan

Fujinami, Kaoru, Nishiguchi, Koji M^{Aff2, IDs10384024010635_cor2}, Oishi, Akio, Akiyama, Masato, Ikeda, Yasuhiro

Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene

Di Iorio, Enzo^{Aff1, Aff2}, Adamo, Ginevra Giovanna, Sorrentino, Ugo^{Aff2, Aff4}, De Nadai, Katia^{Aff3, Aff5}, Barbaro, Vanessa, Mura, Marco^{Aff3, Aff7}, Pellegrini, Marco, Boaretto, Francesca, Tavolato, Marco, Suppiej, Agnese^{Aff5, Aff8}, Nasini, Francesco, Salviati, Leonardo^{Aff2, Aff4}, Parmeggiani, Francesco^{Aff3, Aff5, IDs41598024696409_cor13}

DNA Diagnosis in Case Series of Hereditary Retinal Dystrophy

Vasilyeva, Tatyana, Kadyshev, Vitaly, Marakhonov, Andrey, Zinchenko, Rena

2020 Cognitive Sciences, Genomics and Bioinformatics (CSGB)

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

Oh, Jin Kyun, Vargas Del Valle, José G, Lima de Carvalho, Jose Ronaldo, Sun, Young Joo, Levi, Sarah R, Ryu, Joseph, Yang, Jing, Nagasaki, Takayuki, Emanuelli, Andres, Rasool, Nailyn, Allikmets, Rando, Sparrow, Janet R, Izquierdo, Natalio J, Duncan, Jacque L, Mahajan, Vinit B, Tsang, Stephen H

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Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis

Zhu, Victor, Huang, Tess, Wang, David, Colville, Deb, Mack, Heather, Savige, Judy^{Aff1, IDs0046702306073y_cor6}

An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up

Torrell-Belzach, Nuria^{Aff1, Aff2, IDs10633023099583_cor1}, Miere, Alexandra^{Aff1, Aff2}, Bhouri, Rakia, Srour, Mayer, Souied, Eric H.^{Aff1, Aff2}, Zambrowski, Olivia^{Aff1, Aff3, Aff4}

Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship

Abramowicz, Stéphane^{Aff1, IDs10048023007419_cor1}, Dentel, Alexandre, Chouraqui, Maxime, Bodaghi, Bahram, Touhami, Sara

A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan

Natsuki Higa, Takaaki Hayashi, Kei Mizobuchi, Maki Iwasa, Shingo Kubota, Kazuki Kuniyoshi, Shuhei Kameya, Hiroyuki Kondo, Mineo Kondo, Tadashi Nakano

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The Role of Microglia in Inherited Retinal Diseases

Kumari, Asha^Aff13, Borooah, Shyamanga^Aff13

Crusio, Wim E., Series Editor^Aff1, Dong, Haidong, Series Editor^Aff2, Radeke, Heinfried H., Series Editor^Aff3, Rezaei, Nima, Series Editor^Aff4, Steinlein, Ortrud, Series Editor^Aff5, Xiao, Junjie, Series Editor^Aff6, Ash, John D., editor^Aff7, Pierce, Eric, editor^Aff8, Anderson, Robert E., editor^Aff9, Bowes Rickman, Catherine, editor^Aff10, Hollyfield, Joe G., editor^Aff11, Grimm, Christian, editor^Aff12

Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report

Karl De Geer, Katarzyna Mascianica, Karin Naess, Eliane Sardh, Anna Lindstrand, Erik Björck

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Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function

Xu, Ping, Chen, Zhuolin, Ma, Jianchi, Shan, Yongli, Wang, Yuan, Xie, Bingbing, Zheng, Dandan, Guo, Fuying, Song, Xiaojing, Gao, Guanjie, Ye, Ke, Liu, Yizhi, Pan, Guangjin, Jiang, Bin, Peng, Fuhua^{Aff2, IDs00439023025317_cor15}, Zhong, Xiufeng^{Aff1, IDs00439023025317_cor16}

Exome sequencing in retinal dystrophy patients reveals a novel candidate gene ER membrane protein complex subunit 3

Li, Yan-Ping ^a, Shen, Ren-Juan ^b, Cheng, You-Min ^a, Zhao, Qingqing ^c, Jin, Kangxin ^{b, ∗}, Jin, Zi-Bing ^{a, b, ∗∗}, Zhang, Shaodan ^{d, ∗∗∗}

Single intravitreal administration of a tetravalent siRNA exhibits robust and efficient gene silencing in mouse and pig photoreceptors

Shun-Yun Cheng, Jillian Caiazzi, Annabelle Biscans, Julia F. Alterman, Dimas Echeverria, Nicholas McHugh, Matthew Hassler, Samson Jolly, Delaney Giguere, Joris Cipi, Anastasia Khvorova, Claudio Punzo

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Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype

Anna Esteve-Garcia, Estefania Cobos, Cristina Sau, Ariadna Padró-Miquel, Jaume Català-Mora, Pilar Barberán-Martínez, José M. Millán, Gema García-García, Cinthia Aguilera

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Recombinant protein delivery enables modulation of the phototransduction cascade in mouse retina

Asteriti, Sabrina^{Aff1, Aff2}, Marino, Valerio, Avesani, Anna, Biasi, Amedeo, Dal Cortivo, Giuditta, Cangiano, Lorenzo^{Aff2, IDs00018023050220_cor6}, Dell’Orco, Daniele^{Aff1, IDs00018023050220_cor7}

Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy

Soucy, Megan, Kolesnikova, Masha^{Aff2, Aff3}, Kim, Angela H.^{Aff2, Aff3}, Tsang, Stephen H.^{Aff1, Aff2, Aff4, Aff5, IDs10633022099165_cor4}