Results 111 to 120 of about 431,670 (160)

Characterization of CRB1 splicing in retinal organoids derived from a patient with adult-onset rod-cone dystrophy caused by the c.1892A>G and c.2548G>A variants. [PDF]

Mol Genet Genomic Med, 2020
Zhang X, Thompson JA, Zhang D, Charng J, Arunachalam S, McLaren TL, Lamey TM, De Roach JN, Jennings L, McLenachan S, Chen FK.   +10 more
europepmc   +1 more source

Peripheral Cone Dystrophy: An Unusual and Rare Form of Cone Dystrophy

, 2014
Cone dystrophy refers to a group of disorders characterized by cone dysfunction and can subdivided into central and peripheral forms. Both are regional cone dystrophies where the cone system is predominately impaired with preservation of the rod system ...
Michael Vaphiades; Jennifer Doyle
core  

Rod-Cone Dystrophy Related WDR34 Is Essential for Ciliary Integrity and Survival of Mammalian Photoreceptor Cells. [PDF]

Invest Ophthalmol Vis Sci
Zou R, Cai J, Fan L, Liu L, Chen C, Chen G, Yang X, Sun K, Zhu X.   +8 more
europepmc   +1 more source

A Rare Case of Hunter Syndrome (Mucopolysaccharidosis II) With Bilateral Maculopathy Associated With Rod-Cone Dystrophy. [PDF]

Cureus
Quaicoe ASP, Cornish EE, Chong R.
europepmc   +1 more source

Homozygous Frameshift Mutation in the BBS10 Gene Causing Bardet-Biedl Syndrome with Rod-Cone Dystrophy: A Case Report. [PDF]

Korean J Ophthalmol
Heo J, Jeong YH, Park SW, Byon I, Kwon HJ.   +4 more
europepmc   +1 more source

Mitochondrial functional impairment in <i>ARL3</i>-mutation related rod-cone dystrophy. [PDF]

FASEB Bioadv
Zhang X, Yao S, Zhang L, Zhang B, Yang M, Guo Q, Xu J, Wang Z, Lei B, Jin X.   +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  

Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9. [PDF]

Curr Issues Mol Biol
Deitch I, Itskov S, Panneman D, Abu Shtaya A, Saban T, Goldberg Y, Ehrenberg M, Cremers FPM, Roosing S, Ben-Yosef T.   +9 more
europepmc   +1 more source

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. [PDF]

BMC Med Genomics
Placidi G, D'Agostino E, Maltese PE, Savastano MC, Gambini G, Rizzo S, Bonetti G, Bertelli M, Chiurazzi P, Falsini B.   +9 more
europepmc   +1 more source

RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily. [PDF]

Medicina (Kaunas)
D'Esposito F, Randazzo V, Vega MI, Esposito G, Maltese PE, Torregrossa S, Scibetta P, Listì F, Gagliano C, Scalia L, Pioppo A, Marino A, Piergentili M, Malvone E, Fioretti T, Vitrano A, Piccione M, Avitabile T, Salvatore F, Bertelli M, Costagliola C, Cordeiro MF, Maggio A, D'Alcamo E.   +23 more
europepmc   +1 more source