Results 121 to 130 of about 10,452 (214)

Studies on muscular dystrophy associated genes [PDF]

, 2007
Muscular dystrophy is a collective group of genetic disorder that results in progressive wasting of skeletal muscle. Dysferlin, the gene responsible for Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM) was found to be a member of
Bakir, Hadil
core  

Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1. [PDF]

Invest Ophthalmol Vis Sci, 2022
Martin-Gutierrez MP, Schiff ER, Wright G, Waseem N, Mahroo OA, Michaelides M, Moore AT, Webster AR, Arno G, Genomics England Research Consortium.   +9 more
europepmc   +1 more source

[From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa]

, 2002
Contains fulltext : 120714.pdf (Publisher’s version ) (Open Access)Autosomal recessive Stargardt disease is caused by mutations in the ABCA4 gene.
Maugeri, A., Klevering, B.J., Hoefsloot, L.H., Cremers, F.P.M., Hoyng, C.B.   +4 more
core  

The molecular genetic basis of human cone, cone-rod and macular dystrophies [PDF]

, 2003
Hereditary retinal disease is a significant cause of visual loss throughout the world. The underlying causes are, however, extremely varied. One group of these disorders preferentially affects the photoreceptors that are essential for colour vision and ...
Johnson, Samantha
core  

A novel locus for autosomal dominant cone-rod dystrophy in a family of gypsy origin

, 2011
Póster, 5 figuras, 2 tablas.Cone-rod dystrophy (CORD [MIM #120970]) is a group of genetically and phenotypically heterogenous retinal disorders characterized by primary degeneration of cone photoreceptors, followed by loss of rod photoreceptors (Fig.1).
Cherninkova, Sylvia, Chakarova, Christina, Romero-Durán, Margarita, Kaneva, Radka, Valdés-Sánchez, María Lourdes, Kremensky, Ivo, Kamenarova, Kunka, Krishna, Abhay, Tournev, Ivailo, Prescott, Quincy, Bhattacharya, Shom Shanker   +10 more
core  

A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature. [PDF]

Ophthalmic Genet, 2022
Chiu N, Lee W, Liu PK, Levi SR, Wang HH, Chen N, Kang EY, Seo GH, Lee H, Liu L, Wu WC, Tsai SH, Wang NK.   +12 more
europepmc   +1 more source

Molecular genetics of cone-rod dystrophy : loss of ADAM9 leads to cone-rod dystrophy; mutations in CNNM4 cause Jalili syndrome, consisting of cone-rod dystrophy and amelogenesis imperfecta

, 2011
The term "cone-rod dystrophy" (CORD) describes a clinically heterogeneous group of progressive retinal dystrophies characterised by predominant or equal loss of cone compared to rod photoreceptors, reduced ' visual acuity, colour vision abnormalities ...
Parry, David Alasdair
core  

Correlation between fundus autofluorescence and visual function in patients with cone-rod dystrophy. [PDF]

Sci Rep, 2021
Kanda S, Hara T, Fujino R, Azuma K, Soga H, Asaoka R, Obata R, Inoue T.   +7 more
europepmc   +1 more source

Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7. [PDF]

Mol Vis, 2021
Zou X, Yao F, Li F, Wu S, Li H, Sun Z, Zhu T, Wei X, Li D, Sui R.   +9 more
europepmc   +1 more source

Modeling Cone/Cone-Rod Dystrophy Pathology by AAV-Mediated Overexpression of Mutant CRX Protein in the Mouse Retina. [PDF]

Transl Vis Sci Technol, 2021
Wang Y, Li X, Yu Y, Liang J, Liu Y, Chen Y, Bai X, Chen J, Wang F, Luo X, Sun X.   +10 more
europepmc   +1 more source