Results 91 to 100 of about 264,225 (169)

ATXN7-Related Cone-Rod Dystrophy

ImportanceReliable biomarkers with diagnostic and prognostic values are needed for upcoming gene therapy trials for spinocerebellar ataxias. ObjectiveTo identify ophthalmological biomarkers in a sample of spinocerebellar ataxia type 7 (SCA7) carriers ...
Drine, Karima, Hilab, Rania, Blanchard, Benoit, Lane, Roger, Arnold, H. Moore, Tezenas du Montcel, Sophie, Coarelli, Giulia, Sancho, Serge, Audo, Isabelle, Durr, Alexandra, Nassisi, Marco, Junge, Candice, Dubec-Fleury, Charlotte, Kitic, Nicolas   +13 more
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Progressive cone dystrophy associated with mutation in CNGB3

, 2004
PURPOSE. To determine the molecular basis for phenotypic variability in a three-generation consanguineous family containing a single individual with complete achromatopsia and three individuals with progressive cone dystrophy. METHODS.
Mollon, JD, Moore, AT, Michaelides, M, Good, P, Aligianis, Irene, Ainsworth, John, Maher, Eamonn, Hunt, DM   +7 more
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Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy [PDF]

, 2014
Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and visual impairment caused by cone ...
Kim, Chong A., Baratela, Wagner A.R., Lazar, Monize, Afonso, Clara L., Suzuki, Lisa, Oliveira, Luiz A.N., Bertola, Débora R., Yamamoto, Guilherme L., Almeida, Tatiana F., Oyamada, Maria K., Ramos, Ester S., Passos-Bueno, Maria Rita   +11 more
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Byron Cone Civil War letter

This collection consists of a letter written by Byron Cone while he was serving with the 20th Iowa ...
Cone, Byron D., 1831-1909
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Evaluation of cone function by a handheld non-mydriatic flicker electroretinogram device

Clinical Ophthalmology, 2016
Natsuko Nakamura,1 Kaoru Fujinami,1 Yoshinobu Mizuno,2 Toru Noda,2 Kazushige Tsunoda11Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, 2Department of Ophthalmology, National Hospital Organization ...
Nakamura N, Fujinami K, Mizuno Y, Noda T, Tsunoda K   +4 more
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Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

BMC Medical Genetics, 2017
Background Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic ...
Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
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Central Cone Dystrophy

, 2013
Central cone dystrophy is characterized by visual loss with a normal appearing fundus with an abnormal focal ERG. In 1989, Miyake reported three patients from two generations of the same family with normal fluorescein angiography and normal full field ...
Robert L. Lesser; S. Brodie
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Retinal cone photoreceptors of the deer mouse Peromyscus maniculatus : development, topography, opsin expression and spectral tuning [PDF]

, 2013
A quantitative analysis of photoreceptor properties was performed in the retina of the nocturnal deer mouse, Peromyscus maniculatus, using pigmented (wildtype) and albino animals.
Glösmann Martin, Martin Glösmann, Arbogast, Patrick, Leo Peichl, Arbogast Patrick, Peichl Leo, Peichl, Leo, Glösmann, Martin, Patrick Arbogast   +8 more
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Intellectual and behavioural functioning in boys with Duchenne Muscular Dystrophy : neuropsychological testing and correlation with genotype [PDF]

, 2008
Includes bibliographical references (leaves 76-82).The spectrum of central nervous system manifestations of DMD is less well described than its musculoskeletal aspects. Although international studies have reported intellectual function ranging from above-
Donald, Kirsten Ann Mary
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Establishment of a human induced pluripotent stem cell line (ABi004-A) carrying a compound heterozygous mutation in the KCNV2 gene

Stem Cell Research
Pathogenic variants in the KCNV2 gene can cause a rare retinal dystrophy that can be inherited recessively, known as cone dystrophy with supernormal rod response (CDSRR).
Almaqdad Alsalloum, Kristina Shefer, Pavel Bogdanov, Natalia Mingaleva, Alexander Kim, Sofya Feoktistova, Olga Mityaeva, Pavel Volchkov   +7 more
doaj   +1 more source