about
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterationsGenetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degenerationA Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical PracticeAssociation of the polycystic ovary syndrome with genomic variants related to insulin resistance, type 2 diabetes mellitus, and obesity.2017 update on the relationship between diabetes and colorectal cancer: epidemiology, potential molecular mechanisms and therapeutic implicationsWhole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development.Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 CasesHuman iPSC derived disease model of MERTK-associated retinitis pigmentosaGenotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophyImproving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGHColon cancer modulation by a diabetic environment: A single institutional experience.Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis PigmentosaMutations in IMPG1 cause vitelliform macular dystrophies.Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish familiesIdentification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis PigmentosaPrevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.Improved resolution of the human adipose tissue proteome at alkaline and wide range pH by the addition of hydroxyethyl disulfide.Genetic association study of age-related macular degeneration in the Spanish population.Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg.New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.Identification of PITX3 mutations in individuals with various ocular developmental defects.Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.Implication of non-coding PAX6 mutations in aniridiaIdentification of a novel mutation in the humanPDE6Agene in autosomal recessive retinitis pigmentosa: homology with thenmf28/nmf28mice modelBiallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseToward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families
P50
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P50
description
onderzoeker
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researcher ORCID ID = 0000-0003-0087-1626
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name
Marta Cortón
@ast
Marta Cortón
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Marta Cortón
@es
Marta Cortón
@nl
type
label
Marta Cortón
@ast
Marta Cortón
@en
Marta Cortón
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Marta Cortón
@nl
altLabel
Marta Corton
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prefLabel
Marta Cortón
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Marta Cortón
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Marta Cortón
@es
Marta Cortón
@nl
P106
P21
P31
P496
0000-0003-0087-1626