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  • 1-10 ل  376 نتائج ل ""Retinal Dystrophies""
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Academic Journal

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.

  • Authors : Moya R; Department of Ophthalmology, Hospital del Salvador, Universidad de Chile, Santiago 7500922, Chile.; Angée C

Subjects: Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/genetics ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/therapy ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/diagnosis Retinal Dystrophy, Early Onset Severe

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Jun 03; Vol. 25 (11). Date of Electronic Publication: 2024 Jun 03.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.

  • Authors : Parameswarappa DC; Srimati Kanuri Santhamma Center for Vitreoretinal Diseases, Anant Bajaj Retina Institute, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, India.; Bagga DK

Subjects: cis-trans-Isomerases*/cis-trans-Isomerases*/cis-trans-Isomerases*/genetics ; Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/genetics ; Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/diagnosis Retinal Dystrophy, Early Onset Severe

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2024 Jun; Vol. 45 (3), pp. 303-312. Date of Electronic Publication: 2024 Feb 07.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.

  • Authors : Rodriguez-Muñoz A; Molecular, Cellular and Genomics Biomedicine Research Group, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain.; Unidad Mixta de Enfermedades Raras IIS La Fe-Centro de Investigación Príncipe Felipe, Valencia, Spain.

Subjects: Mutation* ; RNA Splicing*; Retinal Dystrophies/Retinal Dystrophies/Retinal Dystrophies/*genetics

  • Source: Scientific reports [Sci Rep] 2022 Jan 07; Vol. 12 (1), pp. 68. Date of Electronic Publication: 2022 Jan 07.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

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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Academic Journal

Normal GCAPs partly compensate for altered cGMP signaling in retinal dystrophies associated with mutations in GUCA1A.

  • Authors : Dell'Orco D; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, I-37134, Verona, Italy. .; Dal Cortivo G

Subjects: Mutation* ; Signal Transduction*; Cyclic GMP/Cyclic GMP/Cyclic GMP/*metabolism

  • Source: Scientific reports [Sci Rep] 2019 Dec 27; Vol. 9 (1), pp. 20105. Date of Electronic Publication: 2019 Dec 27.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.

  • Authors : Abu-Ameerh M; Department of Ophthalmology, Jordan University Hospital, The University of Jordan, Amman, Jordan.; Mohammad H

Subjects: Mutation*; ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/*genetics ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Mar; Vol. 8 (3), pp. e1123. Date of Electronic Publication: 2020 Jan 22.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

  • Authors : Zenteno JC; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico.

Subjects: Genetic Heterogeneity* ; Mutation*; Retinal Dystrophies/Retinal Dystrophies/Retinal Dystrophies/*genetics

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Jan; Vol. 8 (1). Date of Electronic Publication: 2019 Nov 17.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.

  • Authors : Abu Diab A; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.; AlTalbishi A

Subjects: Mutation*; Carboxypeptidases/Carboxypeptidases/Carboxypeptidases/*genetics ; DNA/DNA/DNA/*genetics

  • Source: Acta ophthalmologica [Acta Ophthalmol] 2019 Sep; Vol. 97 (6), pp. e877-e886. Date of Electronic Publication: 2019 Mar 29.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 ل  376 نتائج ل ""Retinal Dystrophies""