Results 241 to 250 of about 48,210 (290)

Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis. [PDF]

Genes (Basel)
Kulyamzin S, Leibu R, Newman H, Ehrenberg M, Goldenberg-Cohen N, Zayit-Soudry S, Mezer E, Rotenstreich Y, Deitch I, Panneman DM, Zur D, Chervinsky E, Shalev SA, Cremers FPM, Sharon D, Roosing S, Ben-Yosef T.   +16 more
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Multidimensional Functional Phenotyping Based on Photoreceptor-Directed Temporal Contrast Sensitivity Defects in Inherited Retinal Diseases. [PDF]

Invest Ophthalmol Vis Sci
Huchzermeyer C, Stingl K, Kremers J.
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Canine models of inherited retinal diseases: from neglect to well-recognized translational value. [PDF]

Mamm Genome
Dufour VL, Aguirre GD.
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Stem cell therapy for inherited retinal diseases: Trends and insights from 2000 to 2024. [PDF]

Cell Transplant
Long J, Xu Z, Hu P, Ye Y, Long D.
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Engineering single-AAV CRISPR-Cas13 RNA base editors for treatment of inherited retinal diseases

Kumar S, Chang H, Aubin D, Hsiao Y, Brunet A, Yang J, Huang L, Luu CD, Hewitt AW, Li F, Fry LE, Carvalho LS, Gonzalez-Cordero A, Liu G.   +13 more
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A Comparative Analysis of Models for AAV-Mediated Gene Therapy for Inherited Retinal Diseases. [PDF]

Cells
Alsalloum A, Gornostal E, Mingaleva N, Pavlov R, Kuznetsova E, Antonova E, Nadzhafova A, Kolotova D, Kadyshev V, Mityaeva O, Volchkov P.   +10 more
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Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases.

JAMA Ophthalmol
Abuzaitoun RO, Branham KH, Lacy GD, Hufnagel RB, Kumar MM, Koskenvuo JW, Tuupanen S, Durham T, Zhao PY, Abalem MF, Andrews CA, Schlegel D, Khan NW, Fahim AT, Heckenlively JR, Musch DC, Jayasundera KT.   +16 more
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Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population.

JAMA Ophthalmol
Shalom S, Ben-Yosef T, Sher I, Zag A, Rotenstreich Y, Poleg T, Birk OS, Gradstein L, Ehrenberg M, Deitch I, Mezer E, Hecht I, Pras E, Ramon D, Khateb S, Zur D, Newman H, Kharouba R, Goldenberg-Cohen N, Leibu R, Soudry S, Perlman I, Banin E, Sharon D.   +23 more
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Splicing mutations in inherited retinal diseases

Progress in Retinal and Eye Research, 2021
Mutations which induce aberrant transcript splicing represent a distinct class of disease-causing genetic variants in retinal disease genes. Such mutations may either weaken or erase regular splice sites or create novel splice sites which alter exon recognition.
Nicole, Weisschuh, Elena, Buena-Atienza, Bernd, Wissinger   +2 more
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Inherited Retinal Diseases

2018
The successful sequencing of the human genome and invention of new molecular tools such as gene modification technologies and virus-mediated gene delivery systems have changed our understanding and treatment approaches toward inherited retinal disorders.
Ala Moshiri, Amirfarbod Yazdanyar
openaire   +1 more source