[HTML][HTML] Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa

…, E Millá, C Ayuso, B García-Sandoval… - … & visual science, 2003 - arvojournals.org
purpose. Mutations in the systemically expressed pre-mRNA splicing-factor genes PRPF3,
PRPF8, and PRPF31 have recently been associated with autosomal dominant retinitis …

Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients

…, A Giménez, B García-Sandoval… - JAMA …, 2015 - jamanetwork.com
Importance A new statistical approach is needed to describe the clinical differences between
type I and type II Usher syndrome and between the 2 most frequent mutations in …

[HTML][HTML] High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

…, S Bernal, B García-Sandoval… - Orphanet journal of rare …, 2013 - Springer
Background CRB1 mutations are reported as cause of severe congenital and early-onset
retinal dystrophies (EORD) with different phenotypic manifestations, including Leber …

Benefits of omega-3 fatty acid dietary supplementation on health-related quality of life in patients with meibomian gland dysfunction

…, B García-Sandoval… - Clinical …, 2014 - Taylor & Francis
Background We assessed the impact of a dietary supplement based on the combination of
omega-3 essential fatty acids and antioxidants on health-related quality of life in patients …

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration

…, C Vazquez, FPM Cremers, B García-Sandoval… - Ophthalmology, 2014 - Elsevier
Objective To identify the genetic causes underlying autosomal recessive retinitis pigmentosa
(arRP) and to describe the associated phenotype. Design Case series. Participants Three …

[HTML][HTML] Comprehensive genotyping and phenotyping analysis of GUCY2D-associated rod-and cone-dominated dystrophies

…, E Carreño, P Minguez, B García-Sandoval… - American Journal of …, 2023 - Elsevier
PURPOSE To describe the genetic and clinical spectrum of GUCY2D-associated
retinopathies and to accurately establish their prevalence in a large cohort of patients …

[HTML][HTML] Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

…, MI López-Molina, B García-Sandoval… - Orphanet journal of rare …, 2014 - Springer
Background Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical
condition caused by missense mutations in PRPS1 that lead to three different phenotypes …

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

…, EC Salas, B García-Sandoval… - Experimental Eye …, 2021 - Elsevier
Introduction Biallelic pathogenic RPE65 variants are related to a spectrum of clinically
overlapping inherited retinal dystrophies (IRD). Most affected individuals progress to severe …

[HTML][HTML] High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population

…, M Muntanyola, MJ Trujillo, B García-Sandoval… - Molecular …, 2007 - ncbi.nlm.nih.gov
Purpose Mutations in the peripherin/retinal degeneration slow (RDS) gene are a known
cause of various types of central retinal dystrophies. The purpose of this study was to …

[HTML][HTML] Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa

…, M Bayés, B GarcíaSandoval… - … & visual science, 2000 - iovs.arvojournals.org
methods. Fifteen exons of the gene were screened by single-strand conformation
polymorphism analysis of 7 (of 49) arRP pedigrees showing cosegregation with TULP1 …