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List of works by Emmanuelle Bourrat

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

scientific article published on 18 December 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.

scientific article

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

scientific article published in September 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

scientific article published in March 2015

Camptodactlyly in Pediatric Practice: Blau Syndrome

scientific article published on 26 February 2020

Childhood pilomatricomas: Associated anomalies

scientific article published on 01 July 2018

Chromoblastomycosis: an unusual diagnosis in Europe

scientific article published in January 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

scientific article published on 01 August 2018

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

scientific article published on 14 October 2016

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

scientific article published on 02 September 2015

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

scientific article published on 24 June 2015

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

scientific article published on 01 July 2014

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

scientific article published on 01 June 2019

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

scientific article published on 19 November 2015

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

scientific article

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

scientific article published on 06 September 2019

Genetics of Inherited Ichthyoses and Related Diseases

scientific article published on 25 March 2020

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

scientific article published on 23 July 2019

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

scientific article published on 21 May 2016

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

scientific article published on 7 March 2013

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

scientific article published in March 2010

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

scientific article published on 01 August 2019

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

scientific article

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

scientific article published on 14 January 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.

scientific article published on 11 June 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

scientific article published on 06 December 2019

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

scientific article published on 20 November 2014

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

scientific article published on 25 March 2016

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

scientific article

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

scientific article

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

scientific article published on 11 November 2019

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

scientific article

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

scientific article published on February 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

scientific article

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

scientific article

Toxocara canis infection: Unusual trigger of systemic lupus erythematosus

scientific article published on 06 July 2015

Treatment of heterotopic ossifications secondary to pseudohypoparathyroid.

scientific article published on 24 April 2015

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

scientific article published on 25 February 2013

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