Lista de obras -

A spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK).

artículo científico publicado en 2014

Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature

scientific article published on 14 February 2019

Accuracy of standard dermoscopy for diagnosing scabies

scientific article published on 13 November 2006

Alitretinoin reduces erythema in inherited ichthyosis.

artículo científico publicado en 2018

Angiosarcoma in patients with xeroderma pigmentosum: less aggressive and not so rare?

artículo científico publicado en 2013

Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling

scientific article published on 22 November 2019

Burden of inherited ichthyosis: a French national survey

artículo científico publicado en 2015

Camptodactlyly in Pediatric Practice: Blau Syndrome

artículo científico publicado en 2020

Childhood pilomatricomas: Associated anomalies

artículo científico publicado en 2018

Chromoblastomycosis: an unusual diagnosis in Europe

artículo científico publicado en 2005

Clinical Profile of Methotrexate-resistant Juvenile Localised Scleroderma

scientific article published on 01 May 2019

Clinical and Therapeutic Aspects of Linear Psoriasis: A Study of 30 Cases

artículo científico publicado en 2018

Continuous increase of Trichophyton tonsurans as a cause of tinea capitis in the urban area of Paris, France: a 5-year-long study

artículo científico publicado en 2016

Direct Microscopy: A Useful Tool to Diagnose Oral Candidiasis in Children and Adolescents

artículo científico

EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa

scientific article published on 27 November 2019

Early-onset atopic dermatitis in children: which are the phenotypes at risk of asthma? Results from the ORCA cohort

artículo científico publicado en 2015

Emergency department diagnosis and management of skin diseases with real-time teledermatologic expertise

artículo científico publicado en 2014

Evaluation of Children with Psoriasis from the BiPe Cohort: Are Patients Using Biotherapies in Real Life Eligible for Phase III Clinical Studies?

artículo científico publicado en 2019

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis

artículo científico publicado en 2015

Factors associated with impaired quality of life in adult patients suffering from ichthyosis

artículo científico publicado en 2014

Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4

artículo científico publicado en 2019

Genetics of Inherited Ichthyoses and Related Diseases

artículo científico publicado en 2020

Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort

artículo científico publicado en 2019

IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases

artículo científico publicado en 2016

IQoL-32: a new ichthyosis-specific measure of quality of life

artículo científico publicado en 2013

Individual variability of the cutaneous larva migrans (CLM) incubation period.

artículo científico publicado en 2010

Infliximab Paradoxical Psoriasis in a Cohort of Children With Inflammatory Bowel Disease

artículo científico publicado en 2019

Liposomal amphotericin B in travelers with cutaneous and muco-cutaneous leishmaniasis: Not a panacea

artículo científico publicado en 2017

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. ⬇️

artículo científico publicado en 2016

Multiple neonatal Staphylococcal cold abscesses in large skin folds: a benign neonatal skin infection

Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36 receptor antagonist and is associated with DITRA syndrome.

artículo científico publicado en 2017

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis

scientific article published on 07 August 2018

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations

artículo científico publicado en 2019

Natural history of allergic sensitization in infants with early-onset atopic dermatitis: results from ORCA Study

artículo científico publicado en 2014

Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial.

artículo científico publicado en 2016

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

artículo científico publicado en 2012

Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex

artículo científico publicado en 2017

Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation

artículo científico publicado en 2019

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

artículo científico publicado en 2010

Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings.

artículo científico publicado en 2016

Specific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis

artículo científico publicado en 2012

Sweet-like reaction due to arthropod bites: a histopathologic pitfall

scientific article published on 01 June 2012

The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature

artículo científico publicado en 2016

Toxocara canis infection: Unusual trigger of systemic lupus erythematosus

artículo científico publicado en 2015

Treatment of heterotopic ossifications secondary to pseudohypoparathyroid.

artículo científico publicado en 2015

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

artículo científico publicado en 2013

Lista de obras de

A spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK).

Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature

Accuracy of standard dermoscopy for diagnosing scabies

Alitretinoin reduces erythema in inherited ichthyosis.

Angiosarcoma in patients with xeroderma pigmentosum: less aggressive and not so rare?

Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling

Burden of inherited ichthyosis: a French national survey

Camptodactlyly in Pediatric Practice: Blau Syndrome

Childhood pilomatricomas: Associated anomalies

Chromoblastomycosis: an unusual diagnosis in Europe

Clinical Profile of Methotrexate-resistant Juvenile Localised Scleroderma

Clinical and Therapeutic Aspects of Linear Psoriasis: A Study of 30 Cases

Continuous increase of Trichophyton tonsurans as a cause of tinea capitis in the urban area of Paris, France: a 5-year-long study

Direct Microscopy: A Useful Tool to Diagnose Oral Candidiasis in Children and Adolescents

EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa

Early-onset atopic dermatitis in children: which are the phenotypes at risk of asthma? Results from the ORCA cohort

Emergency department diagnosis and management of skin diseases with real-time teledermatologic expertise

Evaluation of Children with Psoriasis from the BiPe Cohort: Are Patients Using Biotherapies in Real Life Eligible for Phase III Clinical Studies?

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis

Factors associated with impaired quality of life in adult patients suffering from ichthyosis

Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4

Genetics of Inherited Ichthyoses and Related Diseases

Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort

IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases

IQoL-32: a new ichthyosis-specific measure of quality of life

Individual variability of the cutaneous larva migrans (CLM) incubation period.

Infliximab Paradoxical Psoriasis in a Cohort of Children With Inflammatory Bowel Disease

Liposomal amphotericin B in travelers with cutaneous and muco-cutaneous leishmaniasis: Not a panacea

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. ⬇️

Multiple neonatal Staphylococcal cold abscesses in large skin folds: a benign neonatal skin infection

Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36 receptor antagonist and is associated with DITRA syndrome.

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations

Natural history of allergic sensitization in infants with early-onset atopic dermatitis: results from ORCA Study

Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial.

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex

Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings.

Specific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis

Sweet-like reaction due to arthropod bites: a histopathologic pitfall

The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature

Toxocara canis infection: Unusual trigger of systemic lupus erythematosus

Treatment of heterotopic ossifications secondary to pseudohypoparathyroid.

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.