Search Results - "Jimenez-Rolando B"

Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy.

Authors: Georgiou M Fujinami K Fujinami-Yokokawa Y et al.

Source: American journal of ophthalmology [Am J Ophthalmol] 2025 Oct; Vol. 278, pp. 73-80. Date of Electronic Publication: 2025 Jun 06.

Publication Type: Journal Article; Multicenter Study

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

Prevalence, multimodal imaging and genotype-phenotype assessment of trauma related subretinal fibrosis in stargardt disease.

Authors: Jimenez-Rolando B Garcia-Sandoval B Del Pozo-Valero M et al.

Source: European journal of ophthalmology [Eur J Ophthalmol] 2022 Nov; Vol. 32 (6), pp. 3201-3207. Date of Electronic Publication: 2022 Apr 14.

Publication Type: Journal Article

Journal Info: Publisher: SAGE Publishing Country of Publication: United States NLM ID: 9110772 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1724-6016 (Electronic) Linking ISSN: 11206721 NLM ISO Abbreviation: Eur J Ophthalmol Subsets: MEDLINE

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

Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.

Authors: Galbis-Martínez L Blanco-Kelly F García-García G et al.

Source: Acta ophthalmologica [Acta Ophthalmol] 2021 Dec; Vol. 99 (8), pp. 922-930. Date of Electronic Publication: 2021 Feb 11.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1755-3768 (Electronic) Linking ISSN: 1755375X NLM ISO Abbreviation: Acta Ophthalmol Subsets: MEDLINE

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

Authors: Fernández-Caballero L Martín-Merida I Blanco-Kelly F et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2024 Mar 02; Vol. 25 (5). Date of Electronic Publication: 2024 Mar 02.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

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

Authors: Lorenzana-Blanco N Jimenez-Rolando B Garcia-Sandoval B et al.

Source: European journal of ophthalmology [Eur J Ophthalmol] 2022 Nov 15, pp. 11206721221138891. Date of Electronic Publication: 2022 Nov 15.

Publication Type: Journal Article

Journal Info: Publisher: SAGE Publishing Country of Publication: United States NLM ID: 9110772 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1724-6016 (Electronic) Linking ISSN: 11206721 NLM ISO Abbreviation: Eur J Ophthalmol Subsets: 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

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2.

Authors: Georgiou M Fujinami K Vincent A et al.

Source: American journal of ophthalmology [Am J Ophthalmol] 2021 Oct; Vol. 230, pp. 1-11. Date of Electronic Publication: 2021 Mar 15.

Publication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; 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

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

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.

Authors: Georgiou M Robson AG Fujinami K et al.

Source: American journal of ophthalmology [Am J Ophthalmol] 2021 May; Vol. 225, pp. 95-107. Date of Electronic Publication: 2020 Dec 11.

Publication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; 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

Multicolor Imaging for the Detection of Inner Nuclear Layer Microcysts Secondary to Optic Nerve Atrophy.

Authors: Jimenez-Rolando B Carreño E Alonso-Peralta MA et al.

Source: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society [J Neuroophthalmol] 2021 Mar 01; Vol. 41 (1), pp. e107-e110.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9431308 Publication Model: Print Cited Medium: Internet ISSN: 1536-5166 (Electronic) Linking ISSN: 10708022 NLM ISO Abbreviation: J Neuroophthalmol Subsets: MEDLINE

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 Jan 15; Vol. 11 (1), pp. 1526. Date of Electronic Publication: 2021 Jan 15.

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

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

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

Next generation sequencing in the diagnosis of Stargardt's disease.

Transliterated Title: La secuenciación masiva (NGS) como método diagnóstico en la enfermedad de Stargardt.

Authors: Jimenez-Rolando B Noval S Rosa-Perez I et al.

Source: Archivos de la Sociedad Espanola de Oftalmologia [Arch Soc Esp Oftalmol (Engl Ed)] 2018 Mar; Vol. 93 (3), pp. 119-125. Date of Electronic Publication: 2017 May 29.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier España Country of Publication: Spain NLM ID: 101715860 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2173-5794 (Electronic) Linking ISSN: 21735794 NLM ISO Abbreviation: Arch Soc Esp Oftalmol (Engl Ed) Subsets: MEDLINE

Cortical Blindness in a Child Secondary to Mycoplasma pneumoniae Infection.

Authors: Garcia Tirado A Jimenez-Rolando B Noval S et al.

Source: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association [J Stroke Cerebrovasc Dis] 2017 Jan; Vol. 26 (1), pp. e12-e13. Date of Electronic Publication: 2016 Oct 24.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Saunders Country of Publication: United States NLM ID: 9111633 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-8511 (Electronic) Linking ISSN: 10523057 NLM ISO Abbreviation: J Stroke Cerebrovasc Dis Subsets: MEDLINE

A large study reveals no association between APOE and Parkinson's disease.

Authors: Federoff M Jimenez-Rolando B Nalls MA et al.

Source: Neurobiology of disease [Neurobiol Dis] 2012 May; Vol. 46 (2), pp. 389-92. Date of Electronic Publication: 2012 Feb 12.

Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE