Search filters

List of works by Pierre Vabres

2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

article

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

scientific article

A Typical Vascular and Pigmentary Dermoscopic Pattern of Capillary Malformations in Capillary Malformation-Arteriovenous Malformation Syndrome: Report of Four Cases

scientific article published on 2 August 2016

A hypothesis on the pathogeny of rounded and linear epidermal nevi (nevoid acanthosis nigricans) ⬇️

scientific article published on January 28, 2012

A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix

scientific article published on 01 September 2000

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

ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies

scientific article published on 10 May 2021

Absence of Lisch nodules in sporadic neurofibromatosis type 1 may reflect somatic mosaicism

scientific article published on 01 June 2002

Active tuberculosis in psoriasis patients treated with TNF antagonists: a French nationwide retrospective study

scientific article published on 3 June 2016

Anetoderma of prematurity: an iatrogenic consequence of neonatal intensive care

scientific article published on 01 May 2010

Anetoderma: an altered balance between metalloproteinases and tissue inhibitors of metalloproteinases

scientific article published on 01 April 2002

Angiomatous and cerulodermic macules: early cutaneous signs of neurofibromatosis type I

scientific article published in September 1998

Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study

scientific article published in April 2014

Atypical Lyme borreliosis in an HIV-infected man

scientific article published on 01 September 1997

Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome.

scientific article published on 30 March 2017

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

scientific article published on 01 March 2020

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

scientific article published on 01 November 2019

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

scientific article published on 15 October 2014

Bazex-Dupré-Christol syndrome: a possible diagnosis for basal cell carcinomas, coarse sparse hair, and milia.

scientific article

Bejel: an unusual cause of stomatitis in the child

scientific article published in January 1999

Bi-acromial dimples: a series of seven cases

scientific article published on 01 September 2005

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

scientific article published on 06 February 2019

Burden of inherited ichthyosis: a French national survey

scientific article published in March 2015

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

Childhood dermatosis due to microchimerism

scientific article published on 01 January 2005

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

article

Clinical and haemodynamic risk factors associated with discrepancies in lower limb length with capillary malformations: data from the national paediatric French cohort CONAPE.

scientific article published on 30 September 2017

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

Clinical polymorphism of lupus erythematosus

scientific article published in January 1991

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

Congenital Plaque-Type Glomuvenous Malformations Associated with Fetal Pleural Effusion and Ascites

scientific article published on 07 December 2010

Cutaneous B-cell lymphoblastic lymphoma in children: A rare diagnosis ⬇️

scientific article published on July 13, 2011

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

scientific article published on 26 August 2019

Dermoscopy of longitudinal leukonychia in Hailey-Hailey disease

scientific article published on 01 October 2010

Diagnostic and predictive value of skin testing in platinum salt hypersensitivity

scientific article published on 25 January 2007

Diagnostic value of nail examination in Hailey-Hailey disease

scientific article published in September 2014

Diversity of the clinical presentation of the MMR gene biallelic mutations

scientific article published on 01 March 2014

Dramatic response of recalcitrant warts as a side effect of colorectal cancer treatment with oral capecitabine

scientific article published on 01 September 2011

Efficacy and tolerability of methotrexate in severe childhood alopecia areata

scientific article published on 01 August 2011

Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosis

scientific article published on 20 May 2010

Endemic Treponemal Infections in International Adoptees and Immigrant Children: How Common are they? ⬇️

scientific article published on March 1, 2011

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

scientific article published on 02 December 2018

Erratum: Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

scientific article published in Nature

Erythema multiforme majus and Chlamydia pneumoniae infection

scientific article published on December 2006

Etiologies and prognostic factors of leukocytoclastic vasculitis with skin involvement: A retrospective study in 112 patients

scientific article published on July 2016

Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis

scientific article published on 23 September 2018

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

scientific article

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

Febrile toxiderma in children

scientific article published on September 1997

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

Fixed eruption due to quinine contained in tonic water: positive patch-testing

scientific article published in October 2009

Flexural agminated eruptive nevi in Langerhans cell histiocytosis

scientific article published in May 2013

Genetic Testing for Melanoma-Where Are We With Moderate-Penetrance Genes?

scientific article published in April 2016

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)

Genotypes and phenotypes of 162 families with a glomulin mutation

scientific article published on 26 March 2013

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

scientific article

HIV infection associated with leprosy

scientific article published in March 1991

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

scientific article

Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.

scientific article

Hyaluronan, embryogenesis and morphogenesis

scientific article published in April 2010

Impact of sex and age on the clinical and epidemiological aspects of childhood psoriasis: Data from a French cross-sectional multicentre study

scientific article

Imported cutaneous leishmaniasis caused by Leishmania infantum confirmed with immunoassay

scientific article published in October 2001

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

scientific article

Incontinentia pigmenti: late sequelae and genotypic diagnosis: a three-generation study of four patients.

scientific article

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

scientific article

Johanson-Blizzard syndrome: a case report

scientific article published in November 2002

Juvenile xanthogranuloma and nevus anemicus in the diagnosis of neurofibromatosis type 1.

scientific article published on January 2014

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti

scientific article published on 26 February 2017

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

scientific article

Large International Validation of ABSIS and PDAI Pemphigus Severity Scores

scientific article published on 06 October 2018

Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms

scientific article published on 01 September 2002

Linear atrophoderma of moulin associated with antinuclear antibodies

scientific article published on 14 July 2009

Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis

article

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

scientific article published on 27 December 2018

Medial fronto-facial capillary malformations.

scientific article published on 16 December 2010

Methotrexate in Severe Childhood Alopecia Areata: Long-term Follow-up

scientific article published on 01 January 2016

Microchimerism from a dizygotic twin in juvenile ulcerative lichen planus

scientific article published on 01 May 2002

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

scientific article published on 2 February 2017

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

scientific article published on 14 January 2016

Mosaic abnormalities of the skin: review and guidelines from the European Reference Network for rare skin diseases

scientific article published on 18 July 2019

Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus.

scientific article

Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia

scientific article published on 30 September 2018

Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis.

scientific article

Multiple anaemic macules and diffuse erythrocyanosis revealing mixed cryoglobulinaemia

scientific article published on 01 March 2011

Mutation analysis of the DKC1 gene in incontinentia pigmenti

scientific article published in November 1999

Mutational spectrum of NSDHL in CHILD syndrome

scientific article

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

scientific article

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

scientific article published on 9 November 2016

Mycosis fungoides presenting as annular erythema

scientific article published in January 2005

Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome

scientific article published on 07 September 2016

Next-generation sequencing of nevus spilus-type congenital melanocytic nevus: exquisite genotype-phenotype correlation in mosaic RASopathies.

scientific article published on 21 April 2014

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

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

Oral erythromycin therapy in epidermolysis bullosa simplex generalized severe

scientific article published on 10 June 2015

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

scientific article

Physiopathology of scalp disorders

scientific article published on 01 June 2000

Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia

scientific article published on 01 September 2002

Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia.

scientific article

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

scientific article published on 30 September 2019

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

scientific article published on 06 January 2014

Primary cutaneous B-cell lymphoma mimicking pyoderma gangrenosum: first-line treatment with rituximab

scientific article published on 01 July 2004

Propranolol for treatment of ulcerated infantile hemangiomas.

scientific article published on 25 February 2011

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

Prospective study of the evolution of blood lymphoid immune parameters during dacarbazine chemotherapy in metastatic and locally advanced melanoma patients

scientific article

Psoriasis and obesity in French children: a case-control, multicentre study

scientific article published on 22 March 2015

Quinoline Yellow dye-induced fixed food-and-drug eruption

scientific article published on 01 March 2013

Reconstruction of hyperspectral cutaneous data from an artificial neural network-based multispectral imaging system ⬇️

scientific article published on August 9, 2010

Reliability, validity and feasibility of nail ultrasonography in psoriatic arthritis

scientific article published on 10 December 2015

Retinal angioma in a patient with Cowden disease

scientific article

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

scientific article

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

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

scientific article published on 01 October 2018

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

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

scientific article published on 26 March 2014

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

scientific article published on 24 April 2019

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

scientific article published on 01 June 2010

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

scientific article published on 28 March 2007

Severe X-linked chondrodysplasia punctata in nine new female fetuses

scientific article published on 30 March 2015

Severe gynaecological involvement in Proteus Syndrome

scientific article published on 10 August 2018

Skin elastic fibers in Williams syndrome

scientific article

Successful switch to dabrafenib after vemurafenib-induced toxic epidermal necrolysis

scientific article published on 15 March 2015

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

scientific article published on 18 March 2013

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.

scientific article published on 18 August 2011

The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma

scientific article published on 8 July 2008

The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq.

scientific article

The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28

article

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

scientific article published on 10 December 2018

The prognostic impact of the extent of lymph node dissection in patients with stage III melanoma

scientific article published on 05 July 2006

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

scientific article

Tongue psoriasis: Clinical aspects and analysis of epidemiological associations in 313 children, with a systematic literature review.

scientific article published on 14 May 2018

Treatment of granuloma annulare with the 595-nm pulsed dye laser, a multicentre retrospective study with long-term follow-up

scientific article published on 21 December 2011

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

scientific article

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

Two unusual tumors in a patient with xeroderma pigmentosum: atypical fibroxanthoma and basosquamous carcinoma.

scientific article published on October 1999

Use of topical cutaneous N-acetylcysteine in the treatment of major bilateral ectropion in an infant with lamellar ichthyosis

scientific article published in April 2005

Validation of a clinical evaluation score for irritative dermatitis: SCOREPI

scientific article published on 22 August 2012

[Acute arthritis during isotretinoin treatment]

scientific article published on 01 January 1994

[Animal and human genetic skin diseases. Parallelism and use]

scientific article published on 01 January 1996

[Buttocks dermatitis in infants]

scientific article published on 01 November 2002

[Collodion baby syndrome]

scientific article published on 01 March 2001

[Congenital cutaneous aplasia in the surviving monozygotic twin]

scientific article published on 01 January 1993

[Congenital melanotic macules of the tongue].

scientific article

[Cowden's disease in an adolescent]

scientific article published on 01 February 2002

[Dragged disc syndrome in a patient presenting neurofibromatosis type II: a case study]

scientific article published on 01 May 2005

[Genetic susceptibility to skin cancers].

scientific article

[Granulocytic sarcoma ("chloroma")]

scientific article published on 01 May 2005

[In vivo reflectance confocal microscopy in dermatology: a proposal concerning French terminology].

scientific article published on 26 September 2013

[Pigmented Paget's disease of the male nipple]

scientific article published on 01 May 2001

[Recessive epidermolysis bullosa due to composite heterozygote mutations in the COL7A1 gene]

scientific article published on 12 February 2015

[Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma].

scientific article

[Severe microbial skin infections]

scientific article published on 01 May 2001

[Skin manifestations of protein glycosylation deficiency, the CDG (carbohydrate deficient glycoprotein) type 1 syndrome]

scientific article published on 01 October 1998

[Vulvovaginitis in childhood]

scientific article published on 01 October 2004

[What's new in pediatric dermatology?]

scientific article published on 01 December 2008

[X-linked genodermatoses]

scientific article published on 01 January 1995

‘Matchstick’ eyebrow hairs: a dermoscopic clue to the diagnosis of Netherton syndrome

scientific article published on 15 October 2009

Paulina is supported by:

About Paulina

Help