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List of works by Pierre Vabres

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Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

scientific article (publication date: 25 May 2000)
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

scientific article
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

scientific article
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

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

scientific article
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease

article
First-line rituximab combined with short-term prednisone versus prednisone alone for the treatment of pemphigus (Ritux 3): a prospective, multicentre, parallel-group, open-label randomised trial

scientific article published on 22 March 2017
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

scientific article published on 12 March 2011
Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosis

scientific article published on 20 May 2010
Propranolol for treatment of ulcerated infantile hemangiomas.

scientific article published on 25 February 2011
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

scientific article
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity

scientific article published on 28 March 2007
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

scientific article published on 2 November 2017
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

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
Integrating longitudinal serum IL-17 and IL-23 follow-up, along with autoantibodies variation, contributes to predict bullous pemphigoid outcome

scientific article
Prospective multicenter study of pegylated liposomal doxorubicin treatment in patients with advanced or refractory mycosis fungoides or Sézary syndrome

scientific article published in June 2008
The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq.

scientific article
Mutational spectrum of NSDHL in CHILD syndrome

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

scientific article published on 2 February 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
Clinical and immunologic factors associated with bullous pemphigoid relapse during the first year of treatment: a multicenter, prospective study

scientific article published on 01 January 2014
The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28

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

scientific article published on 13 January 2015
SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia

scientific article published on 27 January 2014
Diagnostic and predictive value of skin testing in platinum salt hypersensitivity

scientific article published on 25 January 2007
Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.

scientific article
Segmental and nonsegmental childhood vitiligo has distinct clinical characteristics: a prospective observational study

scientific article published on 01 June 2010
Prevalence of inherited ichthyosis in France: a study using capture-recapture method

scientific article published on 06 January 2014
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

scientific article published on 15 October 2014
Calculation of cut-off values based on the Autoimmune Bullous Skin Disorder Intensity Score (ABSIS) and Pemphigus Disease Area Index (PDAI) pemphigus scoring systems for defining moderate, significant and extensive types of pemphigus.

scientific article
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

scientific article published on 18 March 2013
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

scientific article published on 27 December 2018
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.

scientific article published on 18 August 2011
Successful switch to dabrafenib after vemurafenib-induced toxic epidermal necrolysis

scientific article published on 15 March 2015
Next-generation sequencing of nevus spilus-type congenital melanocytic nevus: exquisite genotype-phenotype correlation in mosaic RASopathies.

scientific article published on 21 April 2014
Psoriasis and obesity in French children: a case-control, multicentre study

scientific article published on 22 March 2015
The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma

scientific article published on 8 July 2008
Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family

scientific article published on 26 July 2012
Reconstruction of hyperspectral cutaneous data from an artificial neural network-based multispectral imaging system

scientific article published on August 9, 2010
Efficacy and tolerability of methotrexate in severe childhood alopecia areata

scientific article published on 01 August 2011
Anetoderma: an altered balance between metalloproteinases and tissue inhibitors of metalloproteinases

scientific article published on 01 April 2002
Retinal angioma in a patient with Cowden disease

scientific article
Treatment of port wine stains with pulsed dye laser and topical timolol: a multicenter randomized controlled trial.

scientific article
Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review.

scientific article
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

scientific article published on 26 March 2014
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

scientific article published on 01 October 2018
Large International Validation of ABSIS and PDAI Pemphigus Severity Scores

scientific article published on 06 October 2018
Bazex-Dupré-Christol syndrome: a possible diagnosis for basal cell carcinomas, coarse sparse hair, and milia.

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

scientific article

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