Authors : Rodilla C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Subjects: Whole Genome Sequencing*/Whole Genome Sequencing*/Whole Genome Sequencing*/methods ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/genetics ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/diagnosis

Source: International journal of molecular sciences [Int J Mol Sci] 2025 Apr 18; Vol. 26 (8). Date of Electronic Publication: 2025 Apr 18.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

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

Authors : Fernández-Caballero L; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Subjects: Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/genetics ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics; Humans

Source: International journal of molecular sciences [Int J Mol Sci] 2024 Mar 02; Vol. 25 (5). Date of Electronic Publication: 2024 Mar 02.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections.

Authors : Malvasi M; Department of Sense Organs, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00185 Rome, Italy.; Casillo L

Subjects: Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/diagnosis ; Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/genetics ; Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/therapy

Source: International journal of molecular sciences [Int J Mol Sci] 2023 Sep 06; Vol. 24 (18). Date of Electronic Publication: 2023 Sep 06.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Computational Evidence for Digenic Contribution of AIPL1 and BBS2 Rare Variants in Inherited Retinal Dystrophy.

Authors : Alibrandi S; Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.; Department of Biomolecular Strategies, Genetics, Cutting-Edge Therapies, I.E.ME.S.T., Via Michele Miraglia 20, 90139 Palermo, Italy.

Subjects: Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/genetics ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/metabolism ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/pathology

Source: International journal of molecular sciences [Int J Mol Sci] 2025 Sep 26; Vol. 26 (19). Date of Electronic Publication: 2025 Sep 26.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.

Authors : Iancu IF; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28049 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), 28040 Madrid, Spain.

Subjects: Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/diagnosis ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/genetics; Cohort Studies

Source: International journal of molecular sciences [Int J Mol Sci] 2022 Jul 29; Vol. 23 (15). Date of Electronic Publication: 2022 Jul 29.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.

Authors : Nash BM; Eye Genetics Research Unit, Sydney Children's Hospitals Network, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, NSW 2000, Australia.; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.

Subjects: Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/diagnosis ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/genetics; ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/genetics

Source: International journal of molecular sciences [Int J Mol Sci] 2022 Mar 31; Vol. 23 (7). Date of Electronic Publication: 2022 Mar 31.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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CRB1 -Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.

Authors : Mairot K; Department of Ophthalmology, University North Hospital of Marseille, Sensgene Care Network, 13915 Marseille, France.; Smirnov V

Subjects: Mutation*; Ependymoglial Cells/Ependymoglial Cells/Ependymoglial Cells/*pathology ; Eye Proteins/Eye Proteins/Eye Proteins/*genetics

Source: International journal of molecular sciences [Int J Mol Sci] 2021 Nov 23; Vol. 22 (23). Date of Electronic Publication: 2021 Nov 23.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Retinal Inflammation, Cell Death and Inherited Retinal Dystrophies.

Authors : Olivares-González L; Pathophysiology and Therapies for Vision Disorders, Principe Felipe Research Center (CIPF), Eduardo Primo Yúfera 3, 46012 Valencia, Spain.; Joint Research Unit on Rare Diseases CIPF-Health Research Institute Hospital La Fe, IIS-La Fe, 46026 Valencia, Spain.

Subjects: Genetic Diseases, Inborn/Genetic Diseases, Inborn/Genetic Diseases, Inborn/*pathology ; Inflammation/Inflammation/Inflammation/*pathology ; Retina/Retina/Retina/*pathology

Source: International journal of molecular sciences [Int J Mol Sci] 2021 Feb 20; Vol. 22 (4). Date of Electronic Publication: 2021 Feb 20.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.

Authors : Martín-Sánchez M; Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, 41013 Seville, Spain.; Bravo-Gil N

Subjects: Genetic Testing/Genetic Testing/Genetic Testing/*methods ; Retinal Dystrophies/Retinal Dystrophies/Retinal Dystrophies/*genetics ; Exome Sequencing/Exome Sequencing/Exome Sequencing/*methods

Source: International journal of molecular sciences [Int J Mol Sci] 2020 Dec 08; Vol. 21 (24). Date of Electronic Publication: 2020 Dec 08.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Gene Therapy in Retinal Dystrophies.

Authors : Ziccardi L; Fondazione Bietti-IRCCS, Via Livenza 3, 00198 Rome, Italy.; Cordeddu V

Subjects: Genetic Therapy*/Genetic Therapy*/Genetic Therapy*/methods; Retinal Dystrophies/Retinal Dystrophies/Retinal Dystrophies/*genetics ; Retinal Dystrophies/Retinal Dystrophies/Retinal Dystrophies/*therapy

Source: International journal of molecular sciences [Int J Mol Sci] 2019 Nov 14; Vol. 20 (22). Date of Electronic Publication: 2019 Nov 14.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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نتائج البحث

فلترة النتائج

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

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

Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections.

Computational Evidence for Digenic Contribution of AIPL1 and BBS2 Rare Variants in Inherited Retinal Dystrophy.

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.

CRB1 -Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.

Retinal Inflammation, Cell Death and Inherited Retinal Dystrophies.

A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.

Gene Therapy in Retinal Dystrophies.

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