List of works - Marta Cortón

2017 update on the relationship between diabetes and colorectal cancer: epidemiology, potential molecular mechanisms and therapeutic implications

scientific article

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

scientific article

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

scientific article published on February 2017

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

scientific article published on 21 July 2015

Association of the polycystic ovary syndrome with genomic variants related to insulin resistance, type 2 diabetes mellitus, and obesity

scientific article

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

scientific article published on 31 October 2018

Colon cancer modulation by a diabetic environment: A single institutional experience

scientific article

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

scientific article published on 27 March 2018

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

scientific article

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases

scientific article

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg

scientific article

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

scientific article published on 31 March 2014

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

scientific article

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

scientific article published on 04 July 2018

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

scientific article published on 16 June 2015

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

scientific article

Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1

scientific article published on 05 October 2018

Generation of gene-corrected human induced pluripotent stem cell lines derived from retinitis pigmentosa patient with Ser331Cysfs*5 mutation in MERTK

article

Genetic association study of age-related macular degeneration in the Spanish population

scientific article published on 25 November 2010

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

scientific article (2010)

Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.

scientific article

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

scientific article published on February 5, 2013

Human iPSC derived disease model of MERTK-associated retinitis pigmentosa

scientific article

Identification of PITX3 mutations in individuals with various ocular developmental defects

scientific article published on 6 February 2018

Identification of a novel mutation in the humanPDE6Agene in autosomal recessive retinitis pigmentosa: homology with thenmf28/nmf28mice model

article

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

scientific article published on 13 October 2016

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

scientific article

Implication of non-coding PAX6 mutations in aniridia

scientific article published on 05 October 2018

Improved resolution of the human adipose tissue proteome at alkaline and wide range pH by the addition of hydroxyethyl disulfide.

scientific article published in February 2004

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

scientific article

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

scientific article

Late Onset Retinitis Pigmentosa

scientific article published on 01 December 2011

Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.

scientific article

Molecular evidence of field cancerization initiated by diabetes in colon cancer patients

scientific article published on 16 February 2019

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

scientific article

Mutations in IMPG1 cause vitelliform macular dystrophies.

scientific article published on 29 August 2013

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.

scientific article

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

scientific article published on 20 February 2018

Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.

scientific article published on 14 August 2013

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

scientific article published on 04 June 2013

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

scientific article published on 25 January 2016

Parental Mosaicism in Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

article

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

scientific article

Proteomics and genomics: A hypothesis-free approach to the study of the role of visceral adiposity in the pathogenesis of the polycystic ovary syndrome

scientific article published on 01 March 2008

SARS-CoV-2 Mutant Spectra at Different Depth Levels Reveal an Overwhelming Abundance of Low Frequency Mutations

scientific article published on 8 June 2022

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

scientific article published in April 2015

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye

scientific article published on 17 December 2019

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

article

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

scientific article published on 18 June 2018

Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development

scientific article

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

scientific article

List of works by Marta Cortón

2017 update on the relationship between diabetes and colorectal cancer: epidemiology, potential molecular mechanisms and therapeutic implications

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

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

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

Association of the polycystic ovary syndrome with genomic variants related to insulin resistance, type 2 diabetes mellitus, and obesity

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Colon cancer modulation by a diabetic environment: A single institutional experience

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

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

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg

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

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

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

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

Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1

Generation of gene-corrected human induced pluripotent stem cell lines derived from retinitis pigmentosa patient with Ser331Cysfs*5 mutation in MERTK

Genetic association study of age-related macular degeneration in the Spanish population

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.

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

Human iPSC derived disease model of MERTK-associated retinitis pigmentosa

Identification of PITX3 mutations in individuals with various ocular developmental defects

Identification of a novel mutation in the humanPDE6Agene in autosomal recessive retinitis pigmentosa: homology with thenmf28/nmf28mice model

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

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

Implication of non-coding PAX6 mutations in aniridia

Improved resolution of the human adipose tissue proteome at alkaline and wide range pH by the addition of hydroxyethyl disulfide.

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

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

Late Onset Retinitis Pigmentosa

Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.

Molecular evidence of field cancerization initiated by diabetes in colon cancer patients

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

Mutations in IMPG1 cause vitelliform macular dystrophies.

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.

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

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

Parental Mosaicism in Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

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

Proteomics and genomics: A hypothesis-free approach to the study of the role of visceral adiposity in the pathogenesis of the polycystic ovary syndrome

SARS-CoV-2 Mutant Spectra at Different Depth Levels Reveal an Overwhelming Abundance of Low Frequency Mutations

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

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye

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

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

Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development

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