Search Results - "Jimenez-Rolando B"

Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.

Authors: Perea-Romero I Gordo G Iancu IF et al.

Corporate Authors: Perea-Romero I Gordo G Iancu IF et al.

Source: Scientific reports [Sci Rep] 2021 May 10; Vol. 11 (1), pp. 10340. Date of Electronic Publication: 2021 May 10.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE; PubMed not MEDLINE

Cone–Rod Dystrophy PCARE -Associated Retinopathy.

Authors: Sopena-Pinilla, Maria Arruebo-Muñio, Maria Arias-Alvarez, Marta et al.

Source: Diagnostics (2075-4418). Jul2026, Vol. 16 Issue 13, p1945. 12p.

Retinal Sensitivity Loss and Beyond in KCNV2-Related Retinopathy: The First Genetically Confirmed Case in Türkiye.

Alternate Title: KCNV2 İlişkili Retinopatide Retinal Duyarlılık Kaybı ve Ötesi: Türkiye'de Genetik Kanıtlı İlk Olgu.

Authors: Fatihoğlu, Özlem Ural Oflaz, Ayşe Bozkurt Özkan, Özlem et al.

Source: Turkish Journal of Ophthalmology / Türk Oftalmoloji Dergisi. Dec2025, Vol. 55 Issue 6, p352-356. 5p.

Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.

Authors: Rodilla, Cristina Núñez-Moreno, Gonzalo Benitez, Yolanda et al.

Source: International Journal of Molecular Sciences. Apr2025, Vol. 26 Issue 8, p3825. 16p.

Aging, Rather than Genotype, Is the Principal Contributor to Differential Gene Expression Within Targeted Replacement APOE2, APOE3, and APOE4 Mouse Brain.

Authors: Labuza, Amanda Pidikiti, Harshitha Alldred, Melissa J. et al.

Source: Brain Sciences (2076-3425). Oct2025, Vol. 15 Issue 10, p1117. 19p.

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Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.

Authors: Demas, Nicholas Estrada, Cesar Morales, Paula et al.

Source: BMC Medical Genomics. 8/28/2025, Vol. 18 Issue 1, p1-12. 12p.

Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study.

Authors: Sao Su, Sandy Chan, Choi Mun Bylstra, Yasmin et al.

Source: Ophthalmic Genetics. Jun2025, Vol. 46 Issue 3, p225-236. 12p.

Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGR ORF15 Genetic Variants.

Authors: Bonetti, Gabriele Cozza, William Bernini, Andrea et al.

Source: International Journal of Molecular Sciences. Dec2023, Vol. 24 Issue 23, p16881. 12p.

Prominin-1 and Retinal Degenerative Disorders: Expanding the Biology from Photoreceptors to the Retinal Pigment Epithelium.

Authors: Bhattacharya, Sujoy Ang, Caitlin Soucy, Megan et al.

Source: Biomolecules (2218-273X). May2026, Vol. 16 Issue 5, p635. 21p.

The value of genetic testing in pediatric and adult ophthalmology.

Authors: Kellner, Ulrich Kellner, Simone Weinitz, Silke et al.

Source: Medizinische Genetik. Apr2025, Vol. 37 Issue 1, p11-18. 8p.

The Specific Pathogenicity Pattern of the Different CRB1 Isoforms Conditions Clinical Severity in Inherited Retinal Dystrophies.

Authors: Siles, Laura Ruiz-Nogales, Sheila Méndez-Vendrell, Pilar et al.

Source: International Journal of Molecular Sciences. Dec2025, Vol. 26 Issue 23, p11551. 19p.

A Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa.

Authors: Ogorodova, Natalya Stepanova, Anna Kadyshev, Vitaly et al.

Source: International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 22, p12169. 15p.

Expanding our understanding of synucleinopathies: proteinopathy, proteinopenia, and lipidopathy.

Authors: Flores‐León, Manuel Outeiro, Tiago F.

Source: FEBS Journal. 9/15/2025, Vol. 292 Issue 18, p4774-4788. 15p.

Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.

Authors: Lee, Brian Juin Hsien Tham, Yih-Chung Tan, Tien-En et al.

Source: Ophthalmic Genetics. Apr2023, Vol. 44 Issue 2, p109-118. 10p.

Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene.

Authors: Fernández-Suárez, Elena González-del Pozo, María Méndez-Vidal, Cristina et al.

Source: Mobile DNA. 5/4/2024, Vol. 15 Issue 1, p1-12. 12p.

PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

Authors: Fernández-Caballero, Lidia Martín-Merida, Inmaculada Blanco-Kelly, Fiona et al.

Source: International Journal of Molecular Sciences. Mar2024, Vol. 25 Issue 5, p2913. 18p.

Apolipoprotein E Gene in α-Synucleinopathies: A Narrative Review.

Authors: Liampas, Ioannis Kyriakoulopoulou, Panagiota Siokas, Vasileios et al.

Source: International Journal of Molecular Sciences. Feb2024, Vol. 25 Issue 3, p1795. 13p.

Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.

Authors: Dhoble, Pankaja Robson, Anthony G. Webster, Andrew R. et al.

Source: Ophthalmic Genetics. Feb2024, Vol. 45 Issue 1, p38-43. 6p.

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.

Authors: Dueñas Rey, Alfredo del Pozo Valero, Marta Bouckaert, Manon et al.

Source: Genome Medicine. 1/6/2024, Vol. 16 Issue 1, p1-21. 21p.