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List of works by Juliette Mazereeuw-Hautier

A novel mutation in CDSN causes peeling skin disease in a patient from Morocco ⬇️

scientific article published on November 1, 2011

A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain

scientific article published on 13 January 2015

A randomized, controlled trial of oral propranolol in infantile hemangioma.

scientific article

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

scientific article published on 14 February 2019

Alitretinoin reduces erythema in inherited ichthyosis.

scientific article

Angiolymphoid hyperplasia with eosinophilia treated with low-dose methotrexate

scientific article published on 27 September 2015

Azathioprine Hypersensitivity Syndrome: Two Cases of Febrile Neutrophilic Dermatosis Induced by Azathioprine.

scientific article

Bilateral facial capillary malformation associated with eye and brain abnormalities

scientific article published in August 2006

Burden of inherited ichthyosis: a French national survey

scientific article published in March 2015

Childhood pilomatricomas: Associated anomalies

scientific article published on 01 July 2018

Clinical Profile of Methotrexate-resistant Juvenile Localised Scleroderma

scientific article published on 01 May 2019

Clinical characteristics, outcome of scleromyxoedema: a retrospective multicentre study ⬇️

scientific article published on September 28, 2010

Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome

scientific article (publication date: July 2006)

Cutis marmorata telangiectatica congenita: report of two persistent cases

scientific article published in November 2002

Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26.

scientific article published in October 2009

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients

scientific article published on 30 September 2018

Development and validation of the K-VSCOR for scoring Koebner's phenomenon in vitiligo/non-segmental vitiligo

scientific article

Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosis

scientific article published on 20 May 2010

Enzalutamide induced acute generalized exanthematous pustulosis.

scientific article published on 13 November 2016

Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment

scientific article published on 02 December 2018

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

Factors influencing quality of life in children with low-flow vascular malformations: a qualitative study using focus groups

scientific article published on 19 November 2020

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

scientific article

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

scientific article published on 7 March 2013

Identification of the first nonsenseCDSNmutation with expression of a truncated protein causing peeling skin syndrome type B ⬇️

scientific article published on December 1, 2013

LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome

scientific article

Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe

scientific article published on 01 September 2014

Management of congenital ichthyoses: European guidelines of care, part one

scientific article published on 03 December 2018

Management of congenital ichthyoses: European guidelines of care, part two

scientific article published on 03 December 2018

Medial fronto-facial capillary malformations.

scientific article published on 16 December 2010

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

scientific article published on 2 February 2017

Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients.

scientific article published on 15 March 2017

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

scientific article

PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier.

scientific article

Porphyria cutanea tarda in a child undergoing bone marrow grafting ⬇️

scientific article published on August 23, 2010

Prevalence and risk factors of vitamin D deficiency in inherited ichthyosis: a French prospective observational study performed in a reference center

scientific article

Prevalence of inherited ichthyosis in France: a study using capture-recapture method

scientific article published on 06 January 2014

Production of lysophosphatidic acid in blister fluid: involvement of a lysophospholipase D activity

scientific article published in September 2005

Prognosis and response to laser treatment of early-onset hypertrophic port-wine stains (PWS).

scientific article

Propranolol for severe infantile hemangiomas: follow-up report

scientific article published on 10 August 2009

Propranolol for treatment of ulcerated infantile hemangiomas.

scientific article published on 25 February 2011

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation

scientific article published on 10 October 2013

Re-emergence of papulonodular napkin dermatitis with use of reusable diapers: report of 5 cases

scientific article published in April 2013

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

scientific article

Risk of lymphoma in patients with atopic dermatitis and the role of topical treatment: A systematic review and meta-analysis.

scientific article published on April 2015

Safety of Oral Propranolol for the Treatment of Infantile Hemangioma: A Systematic Review

scientific article

Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results From the French National Paediatric Cohort CONAPE.

scientific article published on 7 November 2017

Skin Patterns Associated with Upper Airway Infantile Haemangiomas: A Retrospective Multicentre Study

scientific article published on 2 February 2016

Special Considerations in Children with Vitiligo

scientific article published on April 2017

Systemic allergic contact dermatitis caused by methyl aminolaevulinate in a patient with keratosis-ichthyosis-deafness syndrome.

scientific article published on March 2017

TOPICOP©: a new scale evaluating topical corticosteroid phobia among atopic dermatitis outpatients and their parents

scientific article

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

scientific article

Topical Corticosteroid Concerns Among Parents of Children with Psoriasis versus Atopic Dermatitis: A French Multicenter Cross-Sectional Study.

scientific article published on 28 August 2017

Transcriptomic analysis of two Cdsn-deficient mice reveals gene signatures biologically relevant for Peeling Skin Disease

scientific article published on 22 December 2017

Treatment of voluminous and complicated superficial slow-flow vascular malformations with sirolimus (PERFORMUS): protocol for a multicenter phase 2 trial with a randomized observational-phase design.

scientific article

Update on the epidermal differentiation complex.

scientific article published on January 2012

What's new about infantile hemangiomas? ⬇️

scientific article published on April 28, 2013

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