Search Results - "Martin-Merida, Inmaculada"

Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.

Authors: Martin-Merida, Inmaculada Avila-Fernandez, Almudena Del Pozo-Valero, Marta et al.

Source: Ophthalmology. Aug2019, Vol. 126 Issue 8, p1181-1188. 8p.

Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene.

Authors: Beigi, Fahimeh Del Pozo-Valero, Marta Martin-Merida, Inmaculada et al.

Source: Ophthalmic Genetics. Feb2020, Vol. 41 Issue 1, p90-92. 3p.

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

Authors: Perea-Romero, Irene Gordo, Gema Iancu, Ionut F. et al.

Source: Scientific Reports. 5/10/2021, Vol. 11 Issue 1, p1-13. 13p.

Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa.

Authors: Beigi, Fahimeh Del Pozo-Valero, Marta Martin-Merida, Inmaculada et al.

Source: Experimental Eye Research. Oct2021, Vol. 211, pN.PAG-N.PAG. 1p.

Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease.

Authors: Beigi, Fahimeh Del Pozo-Valero, Marta Martin-Merida, Inmaculada et al.

Source: Experimental Eye Research. Jun2021, Vol. 207, pN.PAG-N.PAG. 1p.

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

Authors: Perea-Romero, Irene Gordo, Gema Iancu, Ionut F. et al.

Source: Scientific Reports. 5/10/2021, Vol. 11 Issue 1, p1-2. 2p.

RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.

Authors: Lopez-Rodriguez, Rosario Lantero, Esther Blanco-Kelly, Fiona et al.

Source: Experimental Eye Research. Nov2021, Vol. 212, pN.PAG-N.PAG. 1p.

Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders.

Authors: Lorenzana-Blanco, Natalia Jimenez-Rolando, Belen Garcia-Sandoval, Blanca et al.

Source: European journal of ophthalmology Mar2023; Vol. 33 (2).

Journal Info: Publisher: Sage Publications Inc. ISSN: 1120-6721

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.

Authors: Perea-Romero I Solarat C Blanco-Kelly F et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2022 Jul 14; Vol. 7 (1), pp. 41. Date of Electronic Publication: 2022 Jul 14.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.

Authors: Iancu IF Avila-Fernandez A Arteche A et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2021 Feb 23; Vol. 6 (1), pp. 18. Date of Electronic Publication: 2021 Feb 23.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Authors: Del Pozo-Valero M Riveiro-Alvarez R Martin-Merida I et al.

Source: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2022 Feb 01; Vol. 63 (2), pp. 11.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.

Authors: Del Pozo-Valero M Riveiro-Alvarez R Blanco-Kelly F et al.

Source: American journal of ophthalmology [Am J Ophthalmol] 2020 Nov; Vol. 219, pp. 195-204. Date of Electronic Publication: 2020 Jun 30.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE

Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.

Authors: Del Pozo-Valero M Martin-Merida I Jimenez-Rolando B et al.

Source: American journal of ophthalmology [Am J Ophthalmol] 2019 Nov; Vol. 207, pp. 204-214. Date of Electronic Publication: 2019 May 24.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.

Authors: Martin-Merida I Aguilera-Garcia D Fernandez-San Jose P et al.

Source: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2018 May 01; Vol. 59 (6), pp. 2345-2354.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.

Authors: Martin-Merida I Sanchez-Alcudia R Fernandez-San Jose P et al.

Source: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2017 Feb 01; Vol. 58 (2), pp. 1045-1053.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE