Lista de obras -

A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis

scientific article published on 29 November 2018

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma

scientific article published on 01 December 2018

A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.

artículo científico publicado en 2017

Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility

artículo científico publicado en 2020

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.

artículo científico publicado en 2017

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

scientific article published on 16 January 2019

Development and implementation of a novel panel consisting 20 markers for the detection of genetic causes of male infertility.

artículo científico publicado en 2017

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.

artículo científico publicado en 2016

Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis

artículo científico publicado en 2018

Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone

scientific article published on 05 April 2018

Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects

artículo científico publicado en 2017

First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru.

artículo científico publicado en 2018

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.

artículo científico publicado en 2016

Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.

artículo científico publicado en 2017

Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

artículo científico publicado en 2018

Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

artículo científico publicado en 2019

Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing

scientific article published on 27 September 2019

Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma

artículo científico publicado en 2019

Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations

artículo científico publicado en 2019

KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family

artículo científico publicado en 2016

Microarray to deep sequencing: transcriptome and miRNA profiling to elucidate molecular pathways in systemic lupus erythematosus

artículo científico

Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability.

artículo científico publicado en 2016

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population

article

Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications

artículo científico publicado en 2017

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

scientific article published on 18 November 2018

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

scientific article published on 03 August 2018

Phenotypic Spectrum of Epidermolysis Bullosa, the Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders

artículo científico publicado en 2018

Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum

artículo científico publicado en 2019

Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes

artículo científico publicado en 2022

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

artículo científico publicado en 2017

Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico

artículo científico publicado en 2018

The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.

artículo científico publicado en 2018

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

scientific article published on 01 August 2018

Lista de obras de

A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma

A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.

Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

Development and implementation of a novel panel consisting 20 markers for the detection of genetic causes of male infertility.

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.

Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis

Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone

Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects

First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru.

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.

Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.

Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing

Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma

Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations

KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family

Microarray to deep sequencing: transcriptome and miRNA profiling to elucidate molecular pathways in systemic lupus erythematosus

Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability.

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population

Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

Phenotypic Spectrum of Epidermolysis Bullosa, the Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders

Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum

Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico

The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses