Results 151 to 160 of about 37,333 (227)

Childhood cone-rod dystrophy with macular cyst formation in ABCA4 mutation identified by serial spectral-domain optical coherence tomography. [PDF]

Taiwan J Ophthalmol, 2021
Leung KCP, Ko TCS.
europepmc   +1 more source

SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa

, 2016
Rodrigo Matsui, David B. McGuigan, Michaela Gruzensky, Tomás S. Alemán, Sharon Schwartz, Alexander Sumaroka, Robert K. Koenekoop, Artur V. Cideciyan, Samuel G. Jacobson   +8 more
openalex   +1 more source

Cone-Rod Dystrophy and Progressive Visual Loss as the First Manifestation of Neuronal Ceroid Lipofuscinosis Type 7: A Case Report. [PDF]

Clin Case Rep
Hosseini SM, Nejad Shahrokh Abadi R, Babaei M, Eghbal F, Hashemi N.   +4 more
europepmc   +1 more source

Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy [PDF]

, 2014
Saïd El Shamieh, Marion Neuillé, Angélique Terray, Elise Orhan, Christel Condroyer, Vanessa Démontant, Christelle Michiels, Aline Antonio, Fiona Boyard, Marie‐Elise Lancelot, Mélanie Letexier, Jean‐Paul Saraiva, Thierry Léveillard, Saddek Mohand‐Saïd, Olivier Goureau, José‐Alain Sahel, Christina Zeitz, Isabelle Audo   +17 more
openalex   +1 more source

CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family

Ophthalmic Genetics, 2018
D. Kubota, K. Gocho, S. Kikuchi, K. Akeo, M. Miura, K. Yamaki, Hiroshi Takahashi, S. Kameya   +7 more
semanticscholar   +1 more source

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations inALMS1andDYSF

, 2015
Csilla H. Lazar, Adva Kimchi, Prasanthi Namburi, Mousumi Mutsuddi, Lina Zelinger, Avigail Beryozkin, Shiran Ben-Simhon, Alexey Obolensky, Ziva Ben‐Neriah, Zohar Argov, Eli Pikarsky, Yakov Fellig, Devorah Marks-Ohana, Rinki Ratnapriya, Eyal Banin, Dror Sharon, Anand Swaroop   +16 more
openalex   +2 more sources

Targeted Next Generation Sequencing Identifies Novel Mutations inRP1as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy [PDF]

, 2015
Saïd El Shamieh, Élise Boulanger-Scemama, Marie‐Elise Lancelot, Aline Antonio, Vanessa Démontant, Christel Condroyer, Mélanie Letexier, Jean‐Paul Saraiva, Saddek Mohand‐Saïd, José‐Alain Sahel, Isabelle Audo, Christina Zeitz   +11 more
openalex   +1 more source

Assessing rod function in cone dystrophy patients with ABCA4 mutations using rod fractional sensitivity estimates based on ERG a-wave rise time

, 2018
Kristen E Bowles Johnson, Brett G. Jeffrey, Laura J. Frishman   +2 more
openalex   +1 more source

Polyglutamine-Expanded Ataxin-7 Antagonizes CRX Function and Induces Cone-Rod Dystrophy in a Mouse Model of SCA7 [PDF]

, 2001
Albert R. La Spada, Ying‐Hui Fu, Bryce L. Sopher, Randell T. Libby, Xuejiao Wang, Lili Y. Li, David D. Einum, Jing Huang, Daniel E. Possin, Annette C. Smith, Refugio A. Martinez, Kari L. Koszdin, Piper M. Treuting, Carol B. Ware, James B. Hurley, Louis J. Ptáček, Shiming Chen   +16 more
openalex   +1 more source

Elimination of a Retinal Riboflavin Binding Protein Exacerbates Degeneration in a Model of Cone-Rod Dystrophy. [PDF]

Invest Ophthalmol Vis Sci, 2020
Genc AM, Makia MS, Sinha T, Conley SM, Al-Ubaidi MR, Naash MI.   +5 more
europepmc   +1 more source