Results 121 to 130 of about 15,202 (200)

Clinical Validation of a CRX Variant Leading to a Cone-Rod Dystrophy. [PDF]

Cureus
Pagán-Melvin C, Izquierdo N, Alejandro KC.   +2 more
europepmc   +1 more source

Cone-Rod Dystrophy 2 [PDF]

, 2020
openaire   +1 more source

<i>POC1B</i>-associated cone-rod dystrophy with bilateral optic disc swelling: A novel clinical observation. [PDF]

Am J Ophthalmol Case Rep
Bamardouf N, Alsaidi A, Almhmoudi F, Badeeb N, Danish E.   +4 more
europepmc   +1 more source

<i>Atp1b2^Atp1b1</i> Knock-In Mice Exhibit a Cone-Rod Dystrophy-Like Phenotype. [PDF]

Cells
Bartsch S, Atiskova Y, Schlichting S, Becker E, Herrmann M, Bartsch U.   +5 more
europepmc   +1 more source

Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model. [PDF]

Ophthalmic Genet, 2021
Aleman TS, O'Neil EC, O'Connor K, Jiang YY, Aleman IA, Bennett J, Morgan JIW, Toussaint BW.   +7 more
europepmc   +1 more source

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

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