Results 121 to 130 of about 29,682 (236)

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

, 2004
We identified three consanguineous Austrian kindreds with 15 members affected by autosomal recessive childhood-onset severe retinal dystrophy, a genetically heterogeneous group of disorders characterized by degeneration of the photoreceptor cells.
Janecke, A.R., Huebner, C.A., Bernd Wissinger, Becker, C., Schmid, E., Andreas R Janecke, Franz Rüschendorf, Heckenlively, J., Andreas Gal, Debra A Thompson, Anita R Nair, Gal, A., John Heckenlively, Eduard Schmid, Wissinger, B., Gerd Utermann, Nuernberg, P., Rueschendorf, F., Peter Nürnberg, Christian Becker, Christian A Hübner, Thompson, D.A., Christina L McHenry, McHenry, C.L., Utermann, G., Nair, A.R.   +25 more
core   +1 more source

Body mass index and peripheral neuropathy across the glucose tolerance spectrum in Japanese adults

Journal of Diabetes Investigation, Volume 17, Issue 7, Page 1142-1153, July 2026.
Graphical illustration of participant classification by metabolic status (normoglycemic, IGT, type 2 diabetes mellitus) and BMI with key neurological and metabolic assessments. In Japanese adults, obesity at the Japanese BMI threshold (≥25 kg/m2) is associated with adverse metabolic profiles across all glycemic states but exacerbates peripheral ...
Fukashi Ishibashi, Aiko Kosaka, Harumi Uetake, Darren C. Greenwood, Laura Güdemann, Hassan Fadavi, Mitra Tavakoli   +6 more
wiley   +1 more source

Common Ophthalmic Conditions in Popular Dog Breeds in Japan: Insights From a Survey of 105 Veterinarians Practicing Ophthalmology

Veterinary Ophthalmology, Volume 29, Issue 4, July 2026.
ABSTRACT Objective To identify commonly presented dog breeds and potentially heritable ophthalmic diseases encountered by veterinarians practicing ophthalmology in Japan. Methods A survey was distributed through the Japanese Society of Comparative and Veterinary Ophthalmology.
Victoria Caballero, Arisu Kobayashi, Yasuyoshi Umeda, Susumu Hirashima, Yuichiro Muramatsu, Mitsuharu Ota, Makoto Yamashita, Yukako Kobayashi, Keiko Miyadera   +8 more
wiley   +1 more source

Subretinal delivery of adeno-associated virus serotype 2 results in minimal immune responses that allow repeat vector administration in immunocompetent mice

, 2009
Background: Adeno-associated virus serotype 2 (AAV2) vectors show considerable promise for ocular gene transfer. However, one potential barrier to efficacious long-term therapy is the development of immune responses against the vector or transgene ...
Ali, R.R., Buch, P, Barker, S.E., Robbie, S.J., Natkunarajah, M, Maclaren, Robert, Broderick, CA, Smith, A.J., Natkunarajah, M., Duran, Y, Buch, P., Ali, RR, Maclaren, RE, Balaggan, K.S., Duran, Y., MacLaren, R.E., Bainbridge, J.W. B., Bainbridge, JW, Barker, SE, Broderick, C.A., Robbie, SJ, Balaggan, KS, Smith, AJ   +22 more
core   +1 more source

Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants

Molecular Genetics & Genomic Medicine
Background Biallelic variants in the major facilitator superfamily domain containing 8 gene (MFSD8) are associated with distinct clinical presentations that range from typical late‐infantile neuronal ceroid lipofuscinosis type 7 (CLN7 disease) to ...
Sigurd Dobloug, Ulrika Kjellström, Glenn Anderson, Emily Gardner, Sara E. Mole, Jayesh Sheth, Andreas Puschmann   +6 more
doaj   +1 more source

Towards identifying the ADRP gene in a large South African family with retinitis pigmentosa

, 2000
Bibliography: leaves 162-190.The present study was initiated with the aim of elucidating the molecular genetic basis of the RP phenotype segregating in a large SA family of British origin.
Goliath, René
core  

Choroidal neovascularization in hereditary retinal dystrophy

, 2017
Herediter retina distrofileri farklı geçiş paterni gösteren ve farklı düzeylerde görmeyi etkileyebilen hastalıkları içerir. Sık görülmemesine karşın retina distrofisi zamanla önemli ölçüde ilerleyebilir ve bazı hastalarda maküladaki atrofik ...
Aras, Cengiz
core  

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction [PDF]

, 2009
To describe the clinical findings of a patient with an early onset retinal dystrophy and a novel mutation in OTX2, and to compare these findings with previously reported cases.Methods: Using direct sequencing, we screened 142 patients, who had either ...
Webster, Andrew R, FitzPatrick, David R, Williamson, Kathleen A, Holder, Graham E, Robson, Anthony G, Moore, Anthony T, van Heyningen, Veronica, Henderson, Robert H, Kennedy, Joanna S   +8 more
core   +2 more sources

Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort

Journal of Ophthalmology
Purpose. The aim of the study is to describe the genotype and phenotype of a Mexican cohort with PCARE-related retinal disease. Methods. The study included 14 patients from 11 unrelated pedigrees with retinal dystrophies who were demonstrated to carry ...
Víctor R. López-Rodríguez, Rocío Arce-González, Alan Martínez-Aguilar, Carlos E. Rodríguez-López, Sergio Groman-Lupa, M. Isabel Neria-González, Genaro Rodríguez-Uribe, Juan C. Zenteno   +7 more
doaj   +1 more source

supplement_material – Supplemental material for Retinal dystrophy associated with Danon disease and pathogenic mechanism through LAMP2-mutated retinal pigment epithelium

, 2019
Supplemental material, supplement_material for Retinal dystrophy associated with Danon disease and pathogenic mechanism through LAMP2-mutated retinal pigment epithelium by Masaya Fukushima, Tatsuya Inoue, Takashi Miyai and Ryo Obata in European Journal ...
Takashi Miyai (3030477), Ryo Obata (535491), Masaya Fukushima (6432194), Tatsuya Inoue (2031706)   +3 more
core   +1 more source