Results 141 to 150 of about 10,452 (214)

A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss. [PDF]

Mol Genet Genomic Med
Scarpato M, Testa F, Nesti A, Zeuli R, Boccia R, Auletta G, Banfi S, Simonelli F, Karali M.   +8 more
europepmc   +1 more source

<i>De novo</i> variant in <i>GUCY2D</i> gene causing atypical cone-rod dystrophy in a consanguineous family and literature review. [PDF]

Int J Ophthalmol
Fang XH, Ke FY, Zou WQ, Zhu DJ, Ma MJ, Lian YY, Wu XL, Wei RH, Sheng XL.   +8 more
europepmc   +1 more source

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

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

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families

, 2005
PURPOSE. To test the incidence of mutations in RPGR ORF15 in six families with X-linked progressive retinal degeneration (cone-rod dystrophy [XLCORD], macular or cone dystrophy) and to undertake a detailed phenotypic assessment of families in whom ORF15 ...
Ebenezer, ND, Maher, ER, Ainsworth, JR, Audo, I, Yates, JR, Holder, GE, Moore, AT, Michaelides, M, Webster, AR, Hardcastle, AJ, Bradshaw, K, Cheetham, ME, Stockman, A, Jenkins, SA   +13 more
core  

Cone and cone-rod dystrophies. [PDF]

Journal of Medical Genetics, 1992
openaire   +2 more sources

Cone-Rod Dystrophy 2 [PDF]

, 2020
openaire   +1 more source

Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families. [PDF]

Int J Mol Sci, 2020
Iarossi G, Marino V, Maltese PE, Colombo L, D'Esposito F, Manara E, Dhuli K, Modarelli AM, Cennamo G, Magli A, Dell'Orco D, Bertelli M.   +11 more
europepmc   +1 more source

Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity. [PDF]

Hum Mol Genet
Aljammal R, Saravanan T, Guan T, Rhodes S, Robichaux MA, Ramamurthy V.   +5 more
europepmc   +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