Results 141 to 150 of about 264,225 (169)

Analysis of Early Cone Dysfunction in an In Vivo Model of Rod-Cone Dystrophy. [PDF]

Int J Mol Sci, 2020
Hassall MM, McClements ME, Barnard AR, Patricio MÍ, Aslam SA, Maclaren RE.   +5 more
europepmc   +1 more source

Assessing Macular Vessel Density in Iraqi Cone Dystrophy Patients Using Optical Coherence Tomography Angiography (OCTA): A Cross-Sectional Study. [PDF]

Cureus
Abbas M, Al-Wassiti AS.
europepmc   +1 more source

Novel and Previously Known Mutations of the KCNV2 Gene Cause Various Variants of the Clinical Course of Cone Dystrophy with Supernormal Rod Response in Children. [PDF]

J Clin Med
Alsalloum A, Mosin I, Shefer K, Mingaleva N, Kim A, Feoktistova S, Malyugin B, Boiko E, Sultanov S, Mityaeva O, Volchkov P.   +10 more
europepmc   +1 more source

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

Long term follow-up of a family with GUCY2D dominant cone dystrophy. [PDF]

Int J Ophthalmol, 2018
Tsokolas G, Almuhtaseb H, Griffiths H, Shawkat F, Pengelly RJ, Sarah E, Lotery A.   +6 more
europepmc   +1 more source

Spectral-Domain Optical Coherence Tomography Morphological Characteristics in Patients with Cone Dysfunction Disorders: A Retrospective Case Series. [PDF]

Clin Ophthalmol
Khojasteh H, Bazvand F, Haidari M, Akhavanrezayat A, Mahmoudi A, Mohammadi SS, Riazi Esfahani H, Mirghorbani M, Sheikholeslami Salmasi A, Azarkish A, Regenold J, Karaca I, Yavari N, Shen M, Uludag Kirimli G, Or C, Ghoraba HH, Nguyen QD, Leung LB.   +18 more
europepmc   +1 more source

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Optical Coherence Tomography Angiography in Patients with Cone Dystrophy

Seminars in Ophthalmology, 2022
Hayati Yılmaz, Umut Karaca, Ali Hakan Durukan   +2 more
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