B. García‐Sandoval

发表

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2014, Investigative ophthalmology & visual science.

Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa

R. Wilke, E. Vallespín, C. Ayuso, 2008, Molecular vision.

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families

E. Aller, M. Cortón, I. Mahíllo-Fernández, 2018, PloS one.

Late onset retinitis pigmentosa.

F. Cremers, M. Cortón, C. Ayuso, 2011, Ophthalmology.

Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.

C. Rivolta, M. Cortón, C. Ayuso, 2012, Ophthalmology.

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.

J. Dopazo, F. García-García, M. Cortón, 2015, Human molecular genetics.

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

E. Aller, J. Millán, T. Jaijo, 2015, JAMA ophthalmology.

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

M. Abellanas, E. Carreño, C. Ayuso, 2022, European journal of ophthalmology.

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

M. Cortón, E. Carreño, D. Valverde, 2022, npj Genomic Medicine.

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa

J. Dopazo, F. García-García, M. Cortón, 2016, Scientific Reports.

Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype–phenotype correlation

M. Baiget, C. Ayuso, D. Valverde, 2005, Clinical genetics.

Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa.

G. Antiñolo, C. Ayuso, D. Valverde, 1995, Clinical genetics.

Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.

J. Millán, C. Ayuso, C. Espinós, 1998, Molecular and cellular probes.

Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.

M. Baiget, C. Ayuso, A. Avila-Fernandez, 2009, Investigative ophthalmology & visual science.

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

M. Baiget, I. Hernán, C. Ayuso, 2007, Molecular vision.

Three novel RDS‐peripherin mutations (689delT, 857del17, G208D) in Spanish familes affected with autosomal dominant retinal degenerations

C. Ayuso, C. Ramos, R. Sanz, 1998 .

Risk of Intraocular Lens Opacification After Endothelial Keratoplasty for Different Intraocular Lens Models: A Retrospective Single-Center Cohort Study

I. Mahíllo-Fernández, I. Jiménez‐Alfaro, N. Alejandre-Alba, 2022, Cornea.

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Á. Carracedo, F. Cremers, M. Cortón, 2014, Ophthalmology.

Quantifying and classifying postsurgical pain in pterygium surgery with conjunctival autografts

I. Jiménez‐Alfaro, M. Ariño-Gutiérrez, N. Alejandre-Alba, 2011 .

[Quantifying and classifying postsurgical pain in pterygium surgery with conjunctival autografts].

I. Jiménez‐Alfaro, M. Ariño-Gutiérrez, N. Alejandre-Alba, 2011, Archivos de la Sociedad Espanola de Oftalmologia.

Ischemic optic neuropathy after intraocular lens implantation to correct high myopia in a phakic patient

J. Pérez-Santonja, J. Bueno, M. Zato, 1993, Journal of cataract and refractive surgery.

Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X‐linked ocular albinism

C. Ayuso, Mónica Mártinez-García, D. Cantalapiedra, 2010, Clinical & experimental ophthalmology.

Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation

C. Ayuso, C. Ramos, A. Giménez, 2000, Ophthalmic genetics.

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

G. Antiñolo, M. Baiget, I. Hernán, 2003, Investigative ophthalmology & visual science.

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

S. Jacobson, T. de Ravel, B. Lorenz, 2019, Human mutation.

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

H. Hakonarson, M. Cortón, C. Ayuso, 2018, Scientific Reports.

Genotype-phenotype correlations in a Spanish cohort of 506 families with bi-allelic ABCA4 pathogenic variants.

C. Rivolta, M. Cortón, I. Mahíllo-Fernández, 2020, American journal of ophthalmology.

Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa

S. Balcells, C. Ayuso, A. Martinez-Mir, 2002, Journal of medical genetics.

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

Silvio Alessandro Di Gioia, C. Rivolta, M. Cortón, 2015, Scientific Reports.

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2015, Investigative ophthalmology & visual science.

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

H. Hakonarson, Yiran Guo, Sijie He, 2014, Orphanet Journal of Rare Diseases.

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

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2019, Ophthalmology.

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

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2017, Investigative ophthalmology & visual science.

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

H. Hakonarson, B. Gener, D. Sharon, 2021, Scientific reports.

Clinical Study Novel GUCA 1 A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone , Cone-Rod , and Macular Dystrophy Patients

S. Bhattacharya, M. Cortón, C. Ayuso, 2014 .

Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients

S. Bhattacharya, M. Cortón, C. Ayuso, 2013, BioMed research international.

A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21.

M. Bayés, M. Baiget, D. Grinberg, 1997, Genomics.

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

B. J. Klevering, Silvio Alessandro Di Gioia, C. Rivolta, 2014, Ophthalmology.

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

R. Allikmets, M. Cortón, J. Zernant, 2013, Ophthalmology.

Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2011, Investigative ophthalmology & visual science.

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

H. Hakonarson, Yiran Guo, Jianguo Zhang, 2015, PloS one.

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

M. Baiget, M. Cortón, E. Vallespín, 2013, Orphanet Journal of Rare Diseases.

M. Cortón, C. Ayuso, B. Jimenez-Rolando, 2021, medRxiv.

Autosomal dominant retinitis pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus.

P. Humphries, C. Ayuso, P. Kenna, 1992, Human molecular genetics.

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

C. Rivolta, M. Cortón, C. Ayuso, 2016, PloS one.

Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1.

C. Rivolta, M. Cortón, C. Ayuso, 2019, American journal of ophthalmology.

Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa

J. Rosell, M. Baiget, C. Ayuso, 2003, Journal of medical genetics.

Retinitis pigmentosa in Spain

G. Antiñolo, D. Valverde, M. Carballo, 1995 .

Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa

C. Ayuso, C. Ramos, E. Geán, 1994, Human Genetics.

Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients

C. Ayuso, M. Robledo, C. Ramos, 1996, Human Genetics.

Identification of a novel R552Q mutation in exon 13 of the β‐subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa

M. Baiget, D. Grinberg, S. Balcells, 1996 .

Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies

C. Ayuso, A. Avila-Fernandez, B. García-Sandoval, 2011, Molecular vision.

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

I. Mahíllo-Fernández, Silvia Quintana, I. Jiménez‐Alfaro, 2014, Clinical ophthalmology.

Novel p.M96T variant of NRL and shRNA‐based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa

I. Hernán, C. Ayuso, B. García-Sandoval, 2012, Clinical genetics.

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

E. Zrenner, D. Sharon, K. Tsunoda, 2021, American journal of ophthalmology.

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

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2018, Investigative ophthalmology & visual science.

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

G. Antiñolo, M. Baiget, I. Hernán, 2006, BMC Medical Genetics.

Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2015, Acta ophthalmologica.

Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS‐peripherin gene in autosomal dominant macular dystrophies in Spanish families

C. Ayuso, C. Ramos, A. Giménez, 2001, Human mutation.

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

E. Carreño, C. Ayuso, B. Jimenez-Rolando, 2022, European journal of ophthalmology.

Homozygous and heterozygous Gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa

C. Ayuso, M. Carballo, M. Martínez-Gimeno, 2000, Ophthalmic genetics.

G106R rhodopsin mutation is also present in Spanish ADRP patients.

S. Borrego, G. Antiñolo, C. Ayuso, 1996, Ophthalmic genetics.

Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.

J. Millán, C. Ayuso, M. García-Hoyos, 2006, Investigative ophthalmology & visual science.

Mutational Screening of the RP 2 and RPGR Genes in Spanish Families with X-Linked Retinitis Pigmentosa

J. Millán, C. Ayuso, M. García-Hoyos, 2006 .

Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2)

S. Borrego, G. Antiñolo, M. Baiget, 2000, Ophthalmic genetics.

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

T. Jaijo, E. Carreño, C. Ayuso, 2021, Acta ophthalmologica.

Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa

J. Rosell, M. Baiget, M. García-Hoyos, 2003, Journal of medical genetics.

Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa.

M. Bayés, S. Balcells, C. Ayuso, 2000, Investigative ophthalmology & visual science.

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

H. Hakonarson, L. Tian, M. Cortón, 2018, Scientific Reports.

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

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2018, Investigative ophthalmology & visual science.

M. Cortón, B. Jimenez-Rolando, A. Avila-Fernandez, 2024, International journal of molecular sciences.