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Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.

Kuentz P, Engel C, Laeng M, Chevarin M, Duffourd Y, Martel J, Piard J, Morice-Picard F, Aubert H, Bessis D, Guerrot AM, Maruani A, Boccara O, Mazereeuw-Hautier J, Ott H, Phan A, Puzenat E, Quelin C, Thauvin-Robinet C, Faivre L, Vabres P

Br J Dermatol. 2024 04 16;:

Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Engel C, Chevarin M, Piard J, Abad M, Thomas Q, Carmignac V, Duffourd Y, Lemesle-Martin M, Tarris G, Thauvin-Robinet C, Vabres P, Faivre L, Kuentz P

Clin Genet. 2024 02 20;:

Sustained Remission Without Corticosteroids Among Patients With Pemphigus Who Had Rituximab as First-Line Therapy: Follow-Up of the Ritux 3 Trial.

Tedbirt B, Maho-Vaillant M, Houivet E, Mignard C, Golinski ML, Calbo S, Prost-Squarcioni C, Labeille B, Picard-Dahan C, Chaby G, Richard MA, Tancrede-Bohin E, Duvert-Lehembre S, Delaporte E, Bernard P, Caux F, Alexandre M, Musette P, Ingen-Housz-Oro S, Vabres P, Quereux G, Dupuy A, Debarbieux S, Avenel-Audran M, D'Incan M, Bédane C, Bénéton N, Jullien D, Dupin N, Misery L, Machet L, Beylot-Barry M, Dereure O, Sassolas B, Benichou J, Joly P, Hébert V,

JAMA Dermatol. 2024 01 24;:

Alpelisib for Treatment of Patients With PIK3CA-Related Overgrowth Spectrum (PROS).

Canaud G, Gutierrez JCL, Irvine AD, Vabres P, Hansford JR, Ankrah N, Branle F, Papadimitriou A, Ridolfi A, O'Connell P, Turner S, Adams DM

Genet Med. 2023 08 24;:100969

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Faivre L, Crépin JC, Réda M, Nambot S, Carmignac V, Abadie C, Mirault T, Faure-Conter C, Mazereeuw-Hautier J, Maza A, Puzenat E, Collonge-Rame MA, Bursztejn AC, Philippe C, Thauvin-Robinet C, Chevarin M, Abasq-Thomas C, Amiel J, Arpin S, Barbarot S, Baujat G, Bessis D, Bourrat E, Boute O, Chassaing N, Coubes C, Demeer B, Edery P, El Chehadeh S, Goldenberg A, Hadj-Rabia S, Haye D, Isidor B, Jacquemont ML, Van Kien PK, Lacombe D, Lehalle D, Lambert L, Martin L, Maruani A, Morice-Picard F, Petit F, Phan A, Pinson L, Rossi M, Touraine R, Vanlerberghe C, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Verkarre V, Devalland C, Devouassoux-Shisheboran M, Abad M, Rioux-Leclercq N, Bonniaud B, Duffourd Y, Martel J, Binquet C, Kuentz P, Vabres P

Clin Genet. 2023 08 14;:

Intramuscular capillary-type hemangioma: Diagnosis, treatment, and outcomes. A French multicentric retrospective study of 66 cases.

Orly J, Bisdorff A, Fraissenon A, Joly A, Boulouis G, Guibaud L, Tavernier E, Mallet S, Marcelin C, Miquel J, Martin L, Droitcourt C, Gusdorf L, Abasq C, Dadban A, Chiaverini C, Vabres P, Herbreteau D, Boccara O, Wassef M, Maruani A

Eur J Radiol. 2023 07 4;165:110962

Anti-BP180 IgG antibody ELISA values correlate with adverse pregnancy outcomes in pemphigoid gestationis.

Cordel N, Flament J, Jouen F, Seta V, Tancrède-Bohin E, Picard Dahan C, Konstantinou MP, Dereure O, Quéreux G, Prost C, Bedane C, Debarbieux S, Lacour JP, Dompmartin A, Wierzbicka-Hainaut E, Bourgault Villada I, Ingen Housz Oro S, Vabres P, Richard MA, Delaporte E, Pham-Ledard A, Leccia MT, Litrowski N, Michel C, Lagrange B, D'Incan M, Abasq C, Duvert-Lehembre S, Dupuy A, Alcaraz I, Breton-Guitarian AL, Lombart F, Estève E, Machet L, Del Giudice P, Fenot M, Belmondo T, Morin F, Guérin O, Benichou J, Tressières B, Joly P,

J Eur Acad Dermatol Venereol. 2023 02 18;:

Infantile hemangioma in a 17 century painting.

Kluger N, Vabres P

J Eur Acad Dermatol Venereol. 2022 12 22;:

PTPN11 mosaicism causes a spectrum of pigmentary and vascular neurocutaneous disorders and predisposes to melanoma.

Polubothu S, Bender N, Muthiah S, Zecchin D, Demetriou C, Martin SB, Malhotra S, Travnickova J, Zeng Z, Böhm M, Barbarot S, Cottrell C, Davies O, Baselga E, Burrows NP, Carmignac V, Diaz JS, Fink C, Haenssle HA, Happle R, Harland M, Majerowski J, Vabres P, Vincent M, Newton-Bishop JA, Bishop DT, Siegel D, Patton EE, Topf M, Rajan N, Drolet B, Kinsler VA

J Invest Dermatol. 2022 12 22;:

Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism.

Di Rocco F, Licci ML, Garde A, Mottolese C, Thauvin-Robinet C, Chevarin M, Guibaud L, Vabres P, Kuentz P, Faivre L

Eur J Med Genet. 2022 12 8;:104678

A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.

Garret P, Chevarin M, Vitobello A, Verdez S, Fournier C, Verloes A, Tisserant E, Vabres P, Prevel O, Philippe C, Denommé-Pichon AS, Bruel AL, Mau-Them FT, Safraou H, Boughalem A, Costa JM, Trost D, Thauvin-Robinet C, Faivre L, Duffourd Y

Eur J Hum Genet. 2022 12 1;:

Muscle hemihypertrophy syndrome with gene mutation associated with Tourette syndrome.

Hayoun-Vigouroux M, Audebert S, Vabres P, Boddaert N, Misery L, Abasq-Thomas C

JAAD Case Rep. 2022 12;30:128-130

Becker's Naevus Syndrome with Breast Aplasia Due to Postzygotic Mutation of ACTB.

Ramspacher J, Carmignac V, Vabres P, Mazereeuw-Hautier J

Acta Derm Venereol. 2022 08 16;:

Quality of life of children with capillary malformations of the lower limbs: Evolution and associated factors. Data from the French national paediatric cohort, CONAPE.

Robert J, Marchand A, Mazereeuw-Hautier J, Boccara O, Martin L, Chiaverini C, Beneton N, Vabres P, Balguerie X, Plantin P, Bessis D, Barbarot S, Dadban A, Droitcourt C, Samimi M, Morel B, Caille A, Maruani A, Leducq S,

Ann Dermatol Venereol. 2022 07 6;:

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Lehalle D, Bruel AL, Vitobello A, Denommé-Pichon AS, Duffourd Y, Assoum M, Amiel J, Baujat G, Bessieres B, Bigoni S, Burglen L, Captier G, Dard R, Edery P, Fortunato F, Geneviève D, Goldenberg A, Guibaud L, Héron D, Holder-Espinasse M, Lederer D, Lopez Grondona F, Grotto S, Marlin S, Nadeau G, Picard A, Rossi M, Roume J, Sanlaville D, Saugier-Veber P, Triau S, Valenzuela Palafoll MI, Vanlerberghe C, Van Maldergem L, Vezain M, Vincent-Delorme C, Zivi E, Thevenon J, Vabres P, Thauvin-Robinet C, Callier P, Faivre L

Am J Med Genet A. 2022 Apr 21;:

"Dermoscopic and clinical features of congenital or congenital-type nail matrix nevi: a multicenter prospective cohort study by the International Dermoscopy Society".

Pham F, Boespflug A, Duru G, Phan A, Poulalhon N, Weiler L, Tanaka M, Lallas A, Ogata D, Davaine AC, Bahadoran P, Balguerie X, Kamińska-Winciorek G, Tromme I, Correia O, Kim MB, Marghoob AA, Martin L, Guitera P, Meziane M, Miquel J, Mun JH, Argenziano G, Bessis D, Bourke J, Mijuskovic Z, Chiaverini C, Corven-Benoit C, Droitcourt C, Skowron F, Marque M, Zalaudek I, Rosendahl C, Moreno-Ramirez D, Vabres P, Haenssle H, Malvehy J, Puig S, Robert C, Schopf TR, Scope A, Dalle S, Thomas L

J Am Acad Dermatol. 2022 Jan 29;:

Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial.

Maruani A, Tavernier E, Boccara O, Mazereeuw-Hautier J, Leducq S, Bessis D, Guibaud L, Vabres P, Carmignac V, Mallet S, Barbarot S, Chiaverini C, Droitcourt C, Bursztejn AC, Lengellé C, Woillard JB, Herbreteau D, Le Touze A, Joly A, Léauté-Labrèze C, Powell J, Bourgoin H, Gissot V, Giraudeau B, Morel B

JAMA Dermatol. 2021 Sep 15;:

Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study.

Luu M, Vabres P, Devilliers H, Loffroy R, Phan A, Martin L, Morice-Picard F, Petit F, Willems M, Bessis D, Jacquemont ML, Maruani A, Chiaverini C, Mirault T, Clayton-Smith J, Carpentier M, Fleck C, Maurer A, Yousfi M, Parker VER, Semple RK, Bardou M, Faivre L

Genet Med. 2021 Aug 12;:

Health care transition for patients with vascular malformations: a French multicenter cross-sectional study.

Vermersch C, Boccara O, Chiaverini C, Mazereeuw-Hautier J, Sigg N, Mallet S, Vabres P, Herbreteau D, Le Touze A, Maruani A, Leducq S,

Orphanet J Rare Dis. 2021 Aug 6;16(1):352

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Geneviève D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Rivière JB, Kinsler VA, Faivre L, Vabres P

Genet Med. 2021 08;23(8):1484-1491

Skin conditions among 20 century politicians and world leaders.

Kluger N, Perciaccante A, Charlier P, Vabres P

J Eur Acad Dermatol Venereol. 2021 Jul 26;:

A standard of care for individuals with PIK3CA-related disorders: an international expert consensus statement.

Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, de Wit MY, Graham JM, Clayton-Smith J, Mirzaa GM, Biesecker LG

Clin Genet. 2021 Jul 8;:

Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in nevus comedonicus syndrome.

Carmignac V, Salomon G, Severino-Freire M, Duffourd Y, Chevarin M, Vabres P, Mazereeuw-Hautier J

Br J Dermatol. 2021 Jun 29;:

Clinical and molecular data in case of prenatal localized overgrowth disorders: major implication of genetic variants in the PI3K-AKT-mTOR signaling pathway.

Bourgon N, Carmignac V, Sorlin A, Duffourd Y, Philippe C, Thauvin-Robinet C, Guibaud L, Faivre L, Vabres P, Kuentz P,

Ultrasound Obstet Gynecol. 2021 Jun 25;:

Expanding the clinical spectrum of mosaic BRAF skin phenotypes.

Sorlin A, Carmignac V, Amiel J, Boccara O, Fraitag S, Maruani A, Theiler M, Weibel L, Duffourd Y, Philippe C, Thauvin-Robinet C, Faivre L, Rivière JB, Vabres P, Kuentz P

J Eur Acad Dermatol Venereol. 2021 May 29;:

Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review.

Agopiantz M, Sorlin A, Vabres P, Leheup B, Carmignac V, Malaplate-Armand C, Diligent C, Bonnet C, Gauchotte G

J Gynecol Obstet Hum Reprod. 2021 May 25;50(9):102171

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

Park HS, Papanastasi E, Blanchard G, Chiticariu E, Bachmann D, Plomann M, Morice-Picard F, Vabres P, Smahi A, Huber M, Pich C, Hohl D

Commun Biol. 2021 May 10;4(1):544

Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations.

Theiler M, Weibel L, Christen-Zaech S, Carmignac V, Sorlin A, Neuhaus K, Chevarin M, Thauvin-Robinet C, Philippe C, Faivre L, Vabres P, Kuentz P

J Eur Acad Dermatol Venereol. 2021 Apr 30;:

Complete agenesis of the corpus callosum in phacomatosis pigmentovascularis cesioflammea: a manifestation of mosaicism?

Abasq-Thomas C, Audebert S, Carmignac V, Brosseau-Beauvir A, Brenaut E, Misery L, Vabres P

Eur J Dermatol. 2021 Apr 1;31(2):248-249

Acute acral eruptions in children during the COVID-19 pandemic: Characteristics of 103 children and their family clusters.

Hubiche T, Phan A, Leducq S, Rapp J, Fertitta L, Aubert H, Barbarot S, Chiaverini C, Giraudeau B, Lasek A, Mallet S, Labarelle A, Piram M, McCuaig C, Martin L, Monitor L, Nicol I, Bissuel M, Bellissen A, Jullien D, Lesort C, Vabres P, Maruani A,

Ann Dermatol Venereol. 2021 Jan 9;:

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: a survey to evaluate relevant endpoints for future clinical trials.

Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw-Hautier J, Chassaing N, Lacombe D, Morice-Picard F, Toutain A, Arpin S, Boccara O, Touraine R, Blanchet P, Coubes C, Willems M, Pinson L, Khau Van Kien P, Chiaverini C, Giuliano F, Alessandri JL, Mathieu-Dramard M, Morin G, Bursztejn AC, Mignot C, Doummar D, Di Rocco F, Cornaton J, Nicolas C, Gautier E, Luu M, Bardou M, Sorlin A, Philippe C, Edery P, Rossi M, Carmignac V, Thauvin-Robinet C, Vabres P, Faivre L

Clin Genet. 2021 Jan 7;:

[CDAGS syndrome (craniostenosis, deafness, anal abnormalities and genitourinary malformations with skin rash)].

Cohen-Sors R, Devauchelle B, Vabres P, Jain M, Demeer B, Carmi E

Ann Dermatol Venereol. 2020 Oct 30;:

Limb overgrowth associated with a mosaic TSC2 second-hit in tuberous sclerosis complex.

Tessarech M, Malinge MC, Carmignac V, Vabres P, Petit F

Am. J. Med. Genet. A. 2020 Aug 17;:

Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation.

Hadouiri N, Darmency V, Guibaud L, Arzimanoglou A, Sorlin A, Carmignac V, Rivière JB, Huet F, Luu M, Bardou M, Thauvin-Robinet C, Vabres P, Faivre L

Eur J Med Genet. 2020 Aug 14;:104036

Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutation.

Briand C, Galmiche-Rolland L, Vabres P, Couloigner V, Audebert S, Misery L, Abasq-Thomas C

Pediatr Dermatol. 2020 Aug 8;:

Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation.

Da Costa R, De Almeida S, Chevarin M, Hadj-Rabia S, Leclerc-Mercier S, Thauvin-Robinet C, Garrido C, Faivre L, Vabres P, Duplomb L, Jego G

Biochem. Biophys. Res. Commun.. 2020 Jun 30;:

mutations in the X-linked gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.

Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, Torti E, Abe Y, Bartolomaeus T, Clayton-Smith J, Cogné B, Cusco I, Duplomb L, De Bont E, Duffourd Y, Duijkers F, Elpeleg O, Fattal A, Geneviève D, Guillen Sacoto MJ, Guimier A, Harris DJ, Hempel M, Isidor B, Jouan T, Kuentz P, Koshimizu E, Lichtenbelt K, Loik Ramey V, Maik M, Miyakate S, Murakami Y, Pasquier L, Pedro H, Simone L, Sondergaard-Schatz K, St-Onge J, Thevenon J, Valenzuela I, Abou Jamra R, van Gassen K, van Haelst MM, van Koningsbruggen S, Verdura E, Whelan Habela C, Zacher P, Rivière JB, Thauvin-Robinet C, Betschinger J, Faivre L

J. Med. Genet.. 2020 May 14;:

Kosaki overgrowth syndrome: a novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.

Foster A, Chalot B, Antoniadi T, Schaefer E, Keelagher R, Ryan G, Thomas Q, Philippe C, Bruel AL, Sorlin A, Thauvin-Robinet C, Bardou M, Luu M, Quenardelle V, Wolff V, Woodley J, Vabres P, Lim D, Igbokwe R, Joseph A, Walker H, Jester A, Ellenbogen J, Johnson D, Rooke B, Moss C, Cole T, Faivre L

Clin. Genet.. 2020 Apr 14;:

Factors Associated With Short-term Relapse in Patients With Pemphigus Who Receive Rituximab as First-line Therapy: A Post Hoc Analysis of a Randomized Clinical Trial.

Mignard C, Maho-Vaillant M, Golinski ML, Balayé P, Prost-Squarcioni C, Houivet E, Calbo SB, Labeille B, Picard-Dahan C, Konstantinou MP, Chaby G, Richard MA, Bouaziz JD, Duvert-Lehembre S, Delaporte E, Bernard P, Caux F, Alexandre M, Ingen-Housz-Oro S, Vabres P, Quereux G, Dupuy A, Debarbieux S, Avenel-Audran M, D'Incan M, Bédane C, Bénéton N, Jullien D, Dupin N, Misery L, Machet L, Beylot-Barry M, Dereure O, Sassolas B, Benichou J, Joly P, Hébert V,

JAMA Dermatol. 2020 Mar 18;:

Topical sirolimus 0.1% for treating cutaneous microcystic lymphatic malformations in children and adults (TOPICAL): protocol for a multicenter phase 2, within-person, randomized, double-blind, vehicle-controlled clinical trial.

Leducq S, Caille A, Barbarot S, Bénéton N, Bessis D, Boccara O, Bursztejn AC, Chiaverini C, Dompmartin A, Droitcourt C, Gissot V, Goga D, Guibaud L, Herbreteau D, Le Touze A, Léauté-Labrèze C, Lorette G, Mallet S, Martin L, Mazereeuw-Hautier J, Phan A, Plantin P, Quéré I, Vabres P, Bourgoin H, Giraudeau B, Maruani A,

Trials. 2019 Dec 17;20(1):739

Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation.

Jordan M, Carmignac V, Sorlin A, Kuentz P, Albuisson J, Borradori L, Bourrat E, Boute O, Bukvic N, Bursztejn AC, Chiaverini C, Delobel B, Fournet M, Martel J, Goldenberg A, Hadj-Rabia S, Mahé A, Maruani A, Mazereeuw J, Mignot C, Morice-Picard F, Moutard ML, Petit F, Pasteur J, Phan A, Whalen S, Willems M, Philippe C, Vabres P

J. Invest. Dermatol.. 2019 Nov 11;:

Follow-Up of Patients With Complete Remission of Locally Advanced Basal Cell Carcinoma After Vismodegib Discontinuation: A Multicenter French Study of 116 Patients.

Herms F, Lambert J, Grob JJ, Haudebourg L, Bagot M, Dalac S, Dutriaux C, Guillot B, Jeudy G, Mateus C, Monestier S, Mortier L, Poulalhon N, Prey S, Robert C, Vabres P, Lebbe C, Meyer N, Basset-Seguin N

J. Clin. Oncol.. 2019 Oct 14;:JCO1800794

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Rivière JB

Nat. Genet.. 2019 Sep 30;:

Rituximab is an Effective Treatment in Patients with Pemphigus Vulgaris and Demonstrates a Steroid-Sparing Effect.

Chen DM, Odueyungbo A, Csinady E, Gearhart L, Lehane P, Cheu M, Maho-Vaillant M, Prost-Squarcioni C, Hebert V, Houivet E, Calbo S, Caillot F, Golinski ML, Labeille B, Picard-Dahan C, Paul C, Richard MA, Bouaziz JD, Duvert-Lehembre S, Bernard P, Caux F, Alexandre M, Ingen-Housz-Oro S, Vabres P, Delaporte E, Quereux G, Dupuy A, Debarbieux S, Avenel-Audran M, D'Incan M, Bedane C, Bénéton N, Jullien D, Dupin N, Misery L, Machet L, Beylot-Barry M, Dereure O, Sassolas B, Benichou J, Musette P, Joly P,

Br. J. Dermatol.. 2019 Sep 5;:

Deciphering exome sequencing data: bringing mitochondrial DNA variants to light.

Garret P, Bris C, Procaccio V, Bonneau PA, Vabres P, Houcinat N, Tisserant E, Feillet F, Bruel AL, Quéré V, Philippe C, Sorlin A, Mau-Them FT, Vitobello A, Costa JM, Boughalem A, Trost D, Faivre L, Thauvin-Robinet C, Duffourd Y

Hum. Mutat.. 2019 Aug 5;:

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

Ballin N, Hotz A, Bourrat E, Küsel J, Oji V, Bouadjar B, Brognoli D, Hickman G, Heinz L, Vabres P, Marrakchi S, Leclerc-Mercier S, Irvine A, Tadini G, Hamm H, Has C, Blume-Peytavi U, Mitter D, Reitenbach M, Hausser I, Zimmer AD, Alter S, Fischer J

Hum. Mutat.. 2019 Jul 26;:

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

Thauvin-Robinet C, Thevenon J, Nambot S, Delanne J, Kuentz P, Bruel AL, Chassagne A, Cretin E, Pelissier A, Peyron C, Gautier E, Lehalle D, Jean-Marçais N, Callier P, Mosca-Boidron AL, Vitobello A, Sorlin A, Tran Mau-Them F, Philippe C, Vabres P, Demougeot L, Poé C, Jouan T, Chevarin M, Lefebvre M, Bardou M, Tisserant E, Luu M, Binquet C, Deleuze JF, Verstuyft C, Duffourd Y, Faivre L

Eur. J. Hum. Genet.. 2019 Apr 24;:

Mosaic abnormalities of the skin - review and guidelines from the European Reference Network for rare skin diseases (ERN-Skin).

Kinsler VA, Boccara O, Fraitag S, Torrelo A, Vabres P, Diociauti A

Br. J. Dermatol.. 2019 Mar 28;:

[Alopecia, deformed ear and mental retardation associated with terminal 21q deletion].

Lafabregue E, Chaby G, Vabres P, Carmi E

Ann Dermatol Venereol. 2019 Mar 25;:

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

Besnard T, Sloboda N, Goldenberg A, Küry S, Cogné B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn AC, Carmignac V, Datta AN, Delignières A, Faivre L, Gardie B, Guéant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamazière A, Bézieau S, Feillet F, Isidor B

Genet. Med.. 2019 Feb 6;:

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

Villegas F, Lehalle D, Mayer D, Rittirsch M, Stadler MB, Zinner M, Olivieri D, Vabres P, Duplomb-Jego L, De Bont ESJM, Duffourd Y, Duijkers F, Avila M, Geneviève D, Houcinat N, Jouan T, Kuentz P, Lichtenbelt KD, Thauvin-Robinet C, St-Onge J, Thevenon J, van Gassen KLI, van Haelst M, van Koningsbruggen S, Hess D, Smallwood SA, Rivière JB, Faivre L, Betschinger J

Cell Stem Cell. 2018 Dec 23;:

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

Bruel AL, Vitobello A, Mau-Them FT, Nambot S, Duffourd Y, Quéré V, Kuentz P, Garret P, Thevenon J, Moutton S, Lehalle D, Jean-Marçais N, , Garde A, Delanne J, Lefebvre M, Lecoquierre F, Trost D, Cho M, Begtrup A, Telegrafi A, Vabres P, Mosca-Boidron AL, Callier P, Philippe C, Faivre L, Thauvin-Robinet C

Genet. Med.. 2018 Dec 19;:

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

Lehalle D, Altunoglu U, Bruel AL, Assoum M, Duffourd Y, Masurel A, Baujat G, Bessieres B, Captier G, Edery P, Elçioğlu NH, Geneviève D, Goldenberg A, Héron D, Grotto S, Marlin S, Putoux A, Rossi M, Saugier-Veber P, Triau S, Cabrol C, Vézain M, Vincent-Delorme C, Thauvin-Robinet C, Thevenon J, Vabres P, Callier P, Kayserili H, Faivre L

Am. J. Med. Genet. A. 2018 Dec 10;:

Large International Validation of ABSIS and PDAI Pemphigus Severity Scores.

Hebert V, Boulard C, Houivet E, Duvert Lehembre S, Borradori L, Della Torre R, Feliciani C, Fania L, Zambruno G, Camaioni DB, Didona B, Marinovic B, Schmidt E, Schumacher N, Hünefeld C, Schanz S, Kern JS, Hofmann S, Bouyeure AC, Picard-Dahan C, Prost-Squarcioni C, Caux F, Alexandre M, Ingen-Housz-Oro S, Bagot M, Tancrede-Bohin E, Bouaziz JD, Franck N, Vabres P, Labeille B, Richard MA, Delaporte E, Dupuy A, D'Incan M, Quereux G, Skowro F, Paul C, Livideanu CB, Beylot-Barry M, Doutre MS, Avenel-Audran M, Bedane C, Bernard P, Machet L, Maillard H, Jullien D, Debarbieux S, Sassolas B, Misery L, Abasq C, Dereure O, Lagoutte P, Ferranti V, Werth VP, Murrell DF, Hertl M, Benichou J, Joly P, ,

J. Invest. Dermatol.. 2018 Oct 6;:

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

Parker VER, Keppler-Noreuil KM, Faivre L, Luu M, Oden NL, De Silva L, Sapp JC, Andrews K, Bardou M, Chen KY, Darling TN, Gautier E, Goldspiel BR, Hadj-Rabia S, Harris J, Kounidas G, Kumar P, Lindhurst MJ, Loffroy R, Martin L, Phan A, Rother KI, Widemann BC, Wolters PL, Coubes C, Pinson L, Willems M, Vincent-Delorme C, , Vabres P, Semple RK, Biesecker LG

Genet. Med.. 2018 Oct 1;:

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

Lefebvre M, Beaufrere AM, Francannet C, Laurichesse H, Poe C, Jouan T, Troude B, Dechelotte P, Vabres P, Briard M, Mosca-Boidron AL, Duffourd Y, Faivre L, Thevenon J, Thauvin-Robinet C

Am. J. Med. Genet. A. 2018 Sep 23;:

Severe gynaecological involvement in Proteus Syndrome.

Severino-Freire M, Maza A, Kuentz P, Duffourd Y, Fiavre L, Brazet E, Chassaing N, Mery-Lemarche E, Vabres P, Mazereeuw-Hautier J

Eur J Med Genet. 2018 Aug 10;:

Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia.

Heinz L, Bourrat E, Vabres P, Thevenon J, Hotz A, Hörer S, Küsel J, Zimmer AD, Alter S, Happle R, Fischer J

Br. J. Dermatol.. 2018 Jul 19;:

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.

Maruani A, Boccara O, Bessis D, Guibaud L, Vabres P, Mazereeuw-Hautier J, Barbarot S, Chiaverini C, Blaise S, Droitcourt C, Mallet S, Martin L, Lorette G, Woillard JB, Jonville-Bera AP, Rollin J, Gruel Y, Herbreteau D, Goga D, le Touze A, Leducq S, Gissot V, Morel B, Tavernier E, Giraudeau B,

Trials. 2018 Jun 27;19(1):340

Epidermolysis bullosa simplex generalized severe induces a Th17 response and is improved by Apremilast treatment.

Castela E, Tulic MK, Rozières A, Bourrat E, Nicolas JF, Kanitakis J, Vabres P, Bessis D, Mazereeuw J, Morice-Picard F, Baty D, Berard F, Lacour JP, Passeron T, Chiaverini C

Br. J. Dermatol.. 2018 Jun 22;:

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

Pourchot D, Chiaverini C, Bourrat E, Barbarot S, Vabres P, Hubiche T, Droicourt C, Piram M, Kupfer-Bessaguet I, Ferneiny M, Puzenat E, Balguérie X, Beauchet A, Bursztejn AC, Mahé E,

Ann Dermatol Venereol. 2018 May 14;:

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

Nambot S, Thevenon J, Kuentz P, Duffourd Y, Tisserant E, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Lehalle D, Jean-Marçais N, Lefebvre M, Vabres P, El Chehadeh-Djebbar S, Philippe C, Tran Mau-Them F, St-Onge J, Jouan T, Chevarin M, Poé C, Carmignac V, Vitobello A, Callier P, Rivière JB, Faivre L, Thauvin-Robinet C,

Genet. Med.. 2017 Nov 2;:

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

Samimi M, Durieux-Verde M, Caille A, Mazereeuw-Hautier J, Boccara O, Martin L, Chiaverini C, Eschard C, Beneton N, Vabres P, Balguerie X, Plantin P, Bessis D, Barbarot S, Dadban A, Droitcourt C, Leducq S, Lorette G, Morel B, Maruani A,

Br. J. Dermatol.. 2017 Sep;:

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

Bal E, Park HS, Belaid-Choucair Z, Kayserili H, Naville M, Madrange M, Chiticariu E, Hadj-Rabia S, Cagnard N, Kuonen F, Bachmann D, Huber M, Le Gall C, Côté F, Hanein S, Rosti RÖ, Aslanger AD, Waisfisz Q, Bodemer C, Hermine O, Morice-Picard F, Labeille B, Caux F, Mazereeuw-Hautier J, Philip N, Levy N, Taieb A, Avril MF, Headon DJ, Gyapay G, Magnaldo T, Fraitag S, Crollius HR, Vabres P, Hohl D, Munnich A, Smahi A

Nat. Med.. 2017 Sep;:

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

Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco MR, Chung WK, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks DG, Dupont J, González-Enseñat MA, Frieden IJ, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quéré I, Salhi A, Turner AM, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M

Circulation. 2017 Jul;:

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

Brun J, Chiaverini C, Devos C, Leclerc-Mercier S, Mazereeuw J, Bourrat E, Maruani A, Mallet S, Abasq C, Phan A, Vabres P, Martin L, Bodemer C, Lagrange S, Lacour JP,

Orphanet J Rare Dis. 2017 Jun;12(1):119

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

Polubothu S, Scott RH, Vabres P, Kinsler VA

Br. J. Dermatol.. 2017 Mar;:

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.

Joly P, Maho-Vaillant M, Prost-Squarcioni C, Hebert V, Houivet E, Calbo S, Caillot F, Golinski ML, Labeille B, Picard-Dahan C, Paul C, Richard MA, Bouaziz JD, Duvert-Lehembre S, Bernard P, Caux F, Alexandre M, Ingen-Housz-Oro S, Vabres P, Delaporte E, Quereux G, Dupuy A, Debarbieux S, Avenel-Audran M, D'Incan M, Bedane C, Bénéton N, Jullien D, Dupin N, Misery L, Machet L, Beylot-Barry M, Dereure O, Sassolas B, Vermeulin T, Benichou J, Musette P,

Lancet. 2017 Mar;:

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

Bessis D, Bigorre M, Malissen N, Captier G, Chiaverini C, Abasq C, Barbarot S, Boccara O, Bourrat E, El Fertit H, Eschard C, Hubiche T, Lacour JP, Leboucq N, Mahé E, Mallet S, Marque M, Martin L, Mazereeuw-Hautier J, Milla N, Phan A, Plantin P, Picot MC, Puzenat E, Rigau V, Vabres P, Fraitag S, Boralevi F,

J. Am. Acad. Dermatol.. 2017 Mar;76(3):478-487

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

Bal E, Laplantine E, Hamel Y, Dubosclard V, Boisson B, Pesacatore A, Picard C, Hadj-Rabia S, Royer G, Steffann J, Bonnefont JP, Ursini VM, Vabres P, Munnich A, Casanova JL, Bodemer C, Weil R, Agou F, Smahi A

J. Allergy Clin. Immunol.. 2017 Feb;:

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

Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB

Genet. Med.. 2017 Feb;:

Mosaicism for a KITLG mutation in linear and whorled nevoid hypermelanosis.

Sorlin A, Maruani A, Aubriot-Lorton MH, Kuentz P, Duffourd Y, Teysseire S, Carmignac V, St-Onge J, Chevarin M, Jouan T, Thauvin-Robinet C, Thevenon J, Faivre L, Rivière JB, Vabres P

J. Invest. Dermatol.. 2017 Feb;:

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

Kuentz P, Fraitag S, Gonzales M, Dhombres F, St-Onge J, Duffourd Y, Joyé N, Jouannic JM, Picard A, Marle N, Thevenon J, Thauvin-Robinet C, Faivre L, Rivière JB, Vabres P

Br. J. Dermatol.. 2017 Jan;176(1):204-208

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

Miguet M, Thevenon J, Laugel V, Lefebvre M, Bourchany A, Rivière JB, Duffourd Y, Schaefer E, Antal MC, Abida R, Weingertner AS, Kremer V, Vabres P, Morice-Picard F, Gonzales M, Lipsker D, Fraitag S, Mandel JL, Chelly J, Dollfus H, Faivre L, Thauvin-Robinet C, Calmels N, El Chehadeh S

Prenat. Diagn.. 2016 Dec;36(13):1276-1279

Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome.

Bou-Assi E, Bonniaud B, Grimaldi M, Faivre L, Vabres P

Pediatr Dermatol. 2016 Nov;33(6):e351-e352

Reliability, validity and feasibility of nail ultrasonography in psoriatic arthritis.

Arbault A, Devilliers H, Laroche D, Cayot A, Vabres P, Maillefert JF, Ornetti P

Joint Bone Spine. 2016 Oct;83(5):539-44

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

Gandon C, Bonniaud B, Collet E, Dalac S, Jeudy G, Vabres P

Pediatr Dermatol. 2016 Sep;33(5):e337-41

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

Guinard E, Bulai Livideanu C, Barthélémy H, Viguier M, Reguiai Z, Richard MA, Jullien D, Beneton N, Bara C, Vabres P, Grandvuillemin A, Marguery MC, Amelot F, Konstantinou MP, Bagheri H, Paul C,

J Eur Acad Dermatol Venereol. 2016 Aug;30(8):1336-41

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.

Boulard C, Duvert Lehembre S, Picard-Dahan C, Kern JS, Zambruno G, Feliciani C, Marinovic B, Vabres P, Borradori L, Prost-Squarcioni C, Labeille B, Richard MA, Ingen-Housz-Oro S, Houivet E, Werth VP, Murrell DF, Hertl M, Benichou J, Joly P,

Br. J. Dermatol.. 2016 Jul;175(1):142-9

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

Bouiller K, Audia S, Devilliers H, Collet E, Aubriot MH, Leguy-Seguin V, Berthier S, Bonniaud P, Chavanet P, Besancenot JF, Vabres P, Martin L, Samson M, Bonnotte B

Medicine (Baltimore). 2016 Jul;95(28):e4238

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

Kuentz P, Mignot C, St-Onge J, Duffourd Y, Bonniaud B, Faivre L, Rivière JB, Vabres P

J. Invest. Dermatol.. 2016 May;136(5):1060-2

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

Bonigen J, Phan A, Hadj-Rabia S, Boralévi F, Bursztejn AC, Bodemer C, Ferneiny M, Souillet AL, Chiavérini C, Bourrat E, Miquel J, Vabres P, Barbarot S, Bessis D, Eschard C, Mazereeuw-Hautier J, Piram M, Plantin P, Abasq C, Lasek-Duriez A, Maruani A, Beauchet A, Mahé E,

Ann Dermatol Venereol. 2016 May;143(5):354-63

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

Bressac-de Paillerets B, Vabres P, Thomas L

JAMA Dermatol. 2016 Apr;152(4):375-6

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

Thomas AC, Zeng Z, Rivière JB, O'Shaughnessy R, Al-Olabi L, St-Onge J, Atherton DJ, Aubert H, Bagazgoitia L, Barbarot S, Bourrat E, Chiaverini C, Chong WK, Duffourd Y, Glover M, Groesser L, Hadj-Rabia S, Hamm H, Happle R, Mushtaq I, Lacour JP, Waelchli R, Wobser M, Vabres P, Patton EE, Kinsler VA

J. Invest. Dermatol.. 2016 Apr;136(4):770-8

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

Chiaverini C, Roger C, Fontas E, Bourrat E, Bourdon-Lanoy E, Labrèze C, Mazereeuw J, Vabres P, Bodemer C, Lacour JP

Orphanet J Rare Dis. 2016 Mar;11:31

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

Plée J, Le Jan S, Giustiniani J, Barbe C, Joly P, Bedane C, Vabres P, Truchetet F, Aubin F, Antonicelli F, Bernard P

Sci Rep. 2015 Dec;5:18001

Lok C, Vabres P, Beylot-Barry M, Wolkenstein P

Ann Dermatol Venereol. 2015 Apr 3. pii: S0151-9638(15)00092-7

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

Dutkiewicz AS, Ezzedine K, Mazereeuw-Hautier J, Lacour JP, Barbarot S, Vabres P, Miquel J, Balguerie X, Martin L, Boralevi F, Bessou P, Chateil JF, Leaute-Labreze C

J Am Acad Dermatol. 2015 Mar;72(3):473-80

Burden of inherited ichthyosis: a French national survey.

Dreyfus I, Pauwels C, Bourrat E, Bursztejn AC, Maruani A, Chiaverini C, Maza A, Mallet S, Bessis D, Barbarot S, Ezzedine K, Vabres P, Mazereeuw-Hautier J

Acta Derm Venereol. 2015 Mar;95(3):326-8

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

Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C

Clin. Genet.. 2015 Mar;87(3):244-51

Severe X-linked chondrodysplasia punctata in 9 new female fetuses.

Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joye N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Herve P, Lamaziere A, Riviere JB, Faivre L, Laurent N, Thauvin-Robinet C

Prenat Diagn. 2015 Mar 9

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

Leaute-Labreze C, Hoeger P, Mazereeuw-Hautier J, Guibaud L, Baselga E, Posiunas G, Phillips RJ, Caceres H, Lopez Gutierrez JC, Ballona R, Friedlander SF, Powell J, Perek D, Metz B, Barbarot S, Maruani A, Szalai ZZ, Krol A, Boccara O, Foelster-Holst R, Febrer Bosch MI, Su J, Buckova H, Torrelo A, Cambazard F, Grantzow R, Wargon O, Wyrzykowski D, Roessler J, Bernabeu-Wittel J, Valencia AM, Przewratil P, Glick S, Pope E, Birchall N, Benjamin L, Mancini AJ, Vabres P, Souteyrand P, Frieden IJ, Berul CI, Mehta CR, Prey S, Boralevi F, Morgan CC, Heritier S, Delarue A, Voisard JJ

N Engl J Med. 2015 Feb 19;372(8):735-46

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

Abdou A, Daoui L, Charlesworth A, Chiaverini C, Algros MP, Puzenat E, Chantegret C, Vabres P, Lacour JP, Aubin F

Ann Dermatol Venereol. 2015 Feb 12. pii: S0151-9638(15)00010-1

Oral erythromycin therapy in epidermolysis bullosa simplex generalized severe.

Chiaverini C, Fontas E, Vabres P, Bessis D, Mazereeuw J, Charlesworth A, Meneguzzi G, Lacour JP

Br J Dermatol. 2015 Jan 20

SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia.

Pasmant E, Gilbert-Dussardier B, Petit A, de Laval B, Luscan A, Gruber A, Lapillonne H, Deswarte C, Goussard P, Laurendeau I, Uzan B, Pflumio F, Brizard F, Vabres P, Naguibvena I, Fasola S, Millot F, Porteu F, Vidaud D, Landman-Parker J, Ballerini P

Oncogene. 2015 Jan 29;34(5):631-8

Successful switch to dabrafenib after vemurafenib-induced toxic epidermal necrolysis.

Jeudy G, Dalac-Rat S, Bonniaud B, Hervieu A, Petrella T, Collet E, Vabres P

Br. J. Dermatol.. 2015 ;172(5):1454-5

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

Avril MF, Bahadoran P, Cabaret O, Caron O, de la Fouchardiere A, Demenais F, Desjardins L, Frebourg T, Hammel P, Leccia MT, Lesueur F, Mahe E, Martin L, Maubec E, Remenieras A, Richard S, Robert C, Soufir N, Stoppa-Lyonnet D, Thomas L, Vabres P, Bressac-de Paillerets B

Ann Dermatol Venereol. 2015 Jan;142(1):26-36

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

Courcet JB, Elalaoui SC, Duplomb L, Tajir M, Riviere JB, Thevenon J, Gigot N, Marle N, Aral B, Duffourd Y, Sarasin A, Naim V, Courcet-Degrolard E, Aubriot-Lorton MH, Martin L, Abrid JE, Thauvin C, Sefiani A, Vabres P, Faivre L

Eur J Hum Genet. 2014 Oct 15

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

Kinsler VA, Krengel S, Riviere JB, Waelchli R, Chapusot C, Al-Olabi L, Faivre L, Haenssle HA, Weibel L, Jeudy G, Vabres P

J Invest Dermatol. 2014 Oct;134(10):2658-60

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

Mahe E, Beauchet A, Bodemer C, Phan A, Bursztejn AC, Boralevi F, Souillet AL, Chiaverini C, Bourrat E, Miquel J, Vabres P, Barbarot S, Bessis D, Eschard C, Hadj-Rabia S

Br J Dermatol. 2014 Oct 31

Diagnostic value of nail examination in Hailey-Hailey disease.

Bel B, Soudry-Faure A, Vabres P

Eur J Dermatol. 2014 Sep-Oct;24(5):628-9

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

Chiaverini C, Charlesworth A, Fernandez A, Barbarot S, Bessis D, Bodemer C, Bursztejn AC, Cobo AM, Del Rio M, D'Incan M, Labreze C, Langlet C, Mazereeuw J, Miquel J, Vabres P, Meneguzzi G, Lacour JP

Br J Dermatol. 2014 Apr;170(4):901-6

Diversity of the clinical presentation of the MMR gene biallelic mutations.

Bougeard G, Olivier-Faivre L, Baert-Desurmont S, Tinat J, Martin C, Bouvignies E, Vasseur S, Huet F, Couillault G, Vabres P, Le Pessot F, Chapusot C, Malka D, Bressac-de Paillerets B, Tosi M, Frebourg T

Fam Cancer. 2014 Mar;13(1):131-5

Clinical and immunologic factors associated with bullous pemphigoid relapse during the first year of treatment: a multicenter, prospective study.

Fichel F, Barbe C, Joly P, Bedane C, Vabres P, Truchetet F, Aubin F, Michel C, Jegou J, Grange F, Antonicelli F, Bernard P

JAMA Dermatol. 2014 Jan;150(1):25-33

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

Ferrari F, Masurel A, Olivier-Faivre L, Vabres P

JAMA Dermatol. 2014 Jan;150(1):42-6

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

Dreyfus I, Chouquet C, Ezzedine K, Henner S, Chiaverini C, Maza A, Pascal S, Rodriguez L, Vabres P, Martin L, Mallet S, Barbarot S, Dupuis J, Mazereeuw-Hautier J

Orphanet J Rare Dis. 2014 Jan 6;9:1

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

Mignot G, Hervieu A, Vabres P, Dalac S, Jeudy G, Bel B, Apetoh L, Ghiringhelli F

PLoS One. 2014 Aug 29;9(8):e105907

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

Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue MA, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk PS, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor MC, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron AL, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L

Clin Genet. 2013 Dec;84(6):507-21

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

Passeron T, Maza A, Fontas E, Toubel G, Vabres P, Livideanu C, Mazer JM, Rossi B, Boukari F, Harmelin Y, Dreyfus I, Mazereeuw-Hautier J, Lacour JP

Br J Dermatol. 2013 Dec 6

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

Kanitakis J, Bahadoran P, Braun R, Debarbieux S, Labeille B, Perrot JL, Vabres P

Ann Dermatol Venereol. 2013 Nov;140(11):678-86

Validation of a clinical evaluation score for irritative dermatitis: SCOREPI.

Le Maitre M, Crickx B, Lacour JP, Bagot M, Chevallier JM, Cribier B, Doutre MS, Giordano-Labadie F, Guillot B, Joly P, Schmutz JL, Vabres P, Bensimon D

J Eur Acad Dermatol Venereol. 2013 Sep;27(9):1138-42

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

Passeron T, Fusade T, Vabres P, Bousquet-Rouaud R, Collet-Vilette AM, Dahan S, Toubel G

J Eur Acad Dermatol Venereol. 2013 Jun;27(6):785-8

Flexural agminated eruptive nevi in Langerhans cell histiocytosis.

Surinach C, Bahadoran P, Vabres P, Chiaverini C, Montaudie H, Erfan N, Deville A, Ben Signor C, Benchetrit M, Passeron T, Lacour JP

JAMA Dermatol. 2013 May;149(5):635-7

Genotypes and phenotypes of 162 families with a glomulin mutation.

Brouillard P, Boon LM, Revencu N, Berg J, Dompmartin A, Dubois J, Garzon M, Holden S, Kangesu L, Labreze C, Lynch SA, McKeown C, Meskauskas R, Quere I, Syed S, Vabres P, Wassef M, Mulliken JB, Vikkula M

Mol Syndromol. 2013 Apr;4(4):157-64

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

Leleu C, Boulitrop C, Bel B, Jeudy G, Vabres P, Collet E

Contact Dermatitis. 2013 Mar;68(3):187-8

Dacarbazine-mediated upregulation of NKG2D ligands on tumor cells activates NK and CD8 T cells and restrains melanoma growth.

Hervieu A, Rébé C, Végran F, Chalmin F, Bruchard M, Vabres P, Apetoh L, Ghiringhelli F, Mignot G

J. Invest. Dermatol.. 2013 Feb;133(2):499-508

Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family.

Maubec E, Chaudru V, Mohamdi H, Blondel C, Margaritte-Jeannin P, Forget S, Corda E, Boitier F, Dalle S, Vabres P, Perrot JL, Lyonnet DS, Zattara H, Mansard S, Grange F, Leccia MT, Vincent-Fetita L, Martin L, Crickx B, Joly P, Thomas L, Bressac-de Paillerets B, Avril MF, Demenais F

J Am Acad Dermatol. 2012 Dec;67(6):1257-64

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

Carmignac V, Thevenon J, Ades L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Riviere JB, Boileau C, De Paepe A, Faivre L

Am J Hum Genet. 2012 Nov 2;91(5):950-7

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

Vabres P

Ann Dermatol Venereol. 2012 Mar;139(3):177-9

Cutaneous B-cell lymphoblastic lymphoma in children: a rare diagnosis.

Boccara O, Laloum-Grynberg E, Jeudy G, Aubriot-Lorton MH, Vabres P, de Prost Y, Pacquement H, Brousse N, Fraitag S, Bodemer C

J Am Acad Dermatol. 2012 Jan;66(1):51-7

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

Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, Puzenat E, Goldenberg A, Toutain A, Franques J, MacDermot K, Bessis D, Boute O, Callier P, Gueneau L, Huet F, Vabres P, Catteau B, Faivre L, Thauvin-Robinet C

Eur J Med Genet. 2012 Jan;55(1):8-11

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

Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardiere A, Molinie V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugieres L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanche H, Zelenika D, Galan P, Aubin F, Bachollet B, Becuwe C, Berthet P, Bignon YJ, Bonadona V, Bonafe JL, Bonnet-Dupeyron MN, Cambazard F, Chevrant-Breton J, Coupier I, Dalac S, Demange L, d'Incan M, Dugast C, Faivre L, Vincent-Fetita L, Gauthier-Villars M, Gilbert B, Grange F, Grob JJ, Humbert P, Janin N, Joly P, Kerob D, Lasset C, Leroux D, Levang J, Limacher JM, Livideanu C, Longy M, Lortholary A, Stoppa-Lyonnet D, Mansard S, Mansuy L, Marrou K, Mateus C, Maugard C, Meyer N, Nogues C, Souteyrand P, Venat-Bouvet L, Zattara H, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B

Nature. 2011 Oct 19;480(7375):94-8

Congenital plaque-type glomuvenous malformations associated with fetal pleural effusion and ascites.

Goujon E, Cordoro KM, Barat M, Rousseau T, Brouillard P, Vikkula M, Frieden IJ, Vabres P

Pediatr Dermatol. 2011 Sep-Oct;28(5):528-31

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

Bel B, Lorton MH, Darut-Jouve A, Vabres P

Eur J Dermatol. 2011 Sep-Oct;21(5):789-90.

Efficacy and tolerability of methotrexate in severe childhood alopecia areata.

Royer M, Bodemer C, Vabres P, Pajot C, Barbarot S, Paul C, Mazereeuw J

Br J Dermatol. 2011 Aug;165(2):407-10

Medial fronto-facial capillary malformations.

Sillard L, Leaute-Labreze C, Mazereeuw-Hautier J, Viseux V, Barbarot S, Vabres P, Bessis D, Martin L, Lorette G, Berthier F, Lacour JP

J Pediatr. 2011 May;158(5):836-41

Propranolol for treatment of ulcerated infantile hemangiomas.

Saint-Jean M, Leaute-Labreze C, Mazereeuw-Hautier J, Bodak N, Hamel-Teillac D, Kupfer-Bessaguet I, Lacour JP, Naouri M, Vabres P, Hadj-Rabia S, Nguyen JM, Stalder JF, Barbarot S

J Am Acad Dermatol. 2011 May;64(5):827-32

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.

Gardie B, Remenieras A, Kattygnarath D, Bombled J, Lefevre S, Perrier-Trudova V, Rustin P, Barrois M, Slama A, Avril MF, Bessis D, Caron O, Caux F, Collignon P, Coupier I, Cremin C, Dollfus H, Dugast C, Escudier B, Faivre L, Field M, Gilbert-Dussardier B, Janin N, Leport Y, Leroux D, Lipsker D, Malthieu F, McGilliwray B, Maugard C, Mejean A, Mortemousque I, Plessis G, Poppe B, Pruvost-Balland C, Rooker S, Roume J, Soufir N, Steinraths M, Tan MH, Theodore C, Thomas L, Vabres P, Van Glabeke E, Meric JB, Verkarre V, Lenoir G, Joulin V, Deveaux S, Cusin V, Feunteun J, Teh BT, Bressac-de Paillerets B, Richard S

J Med Genet. 2011 Apr;48(4):226-34

Endemic treponemal infections in international adoptees and immigrant children: how common are they?

Vabres P

Pediatr Dermatol. 2011 Mar-Apr;28(2):214-5

Multiple anaemic macules and diffuse erythrocyanosis revealing mixed cryoglobulinaemia.

Binois R, Galliot C, Audia S, Aubriot-Lorton MH, Collet E, Dalac-Rat S, Vabres P

Eur J Dermatol. 2011 Mar-Apr;21(2):269-70.

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

Jolivot R, Vabres P, Marzani F

Comput Med Imaging Graph. 2011 Mar;35(2):85-8

Dermoscopy of longitudinal leukonychia in Hailey-Hailey disease.

Bel B, Jeudy G, Vabres P

Arch Dermatol. 2010 Oct;146(10):1204.

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

Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taieb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H

J Am Acad Dermatol. 2010 Oct;63(4):607-41.

Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosis.

Mazereeuw-Hautier J, Hoeger PH, Benlahrech S, Ammour A, Broue P, Vial J, Ohanessian G, Leaute-Labreze C, Labenne M, Vabres P, Rossler J, Bodemer C

J Pediatr. 2010 Aug;157(2):340-2

'Matchstick' eyebrow hairs: a dermoscopic clue to the diagnosis of Netherton syndrome.

Goujon E, Beer F, Fraitag S, Hovnanian A, Vabres P

J Eur Acad Dermatol Venereol. 2010 Jun;24(6):740-1

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

Mazereeuw-Hautier J, Bezio S, Mahe E, Bodemer C, Eschard C, Viseux V, Labreze C, Plantin P, Barbarot S, Vabres P, Martin L, Paul C, Lacour JP

J Am Acad Dermatol. 2010 Jun;62(6):945-9

Anetoderma of prematurity: an iatrogenic consequence of neonatal intensive care.

Goujon E, Beer F, Gay S, Sandre D, Gouyon JB, Vabres P

Arch Dermatol. 2010 May;146(5):565-7.

[Hyaluronan, embryogenesis and morphogenesis]

Vabres P

Ann Dermatol Venereol. 2010 Apr;137 Suppl 1:S9-S14.

Linear atrophoderma of moulin associated with antinuclear antibodies.

Ripert C, Vabres P

J Eur Acad Dermatol Venereol. 2010 Jan;24(1):108-9

Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations.

Banneau G, Guedj M, MacGrogan G, de Mascarel I, Velasco V, Schiappa R, Bonadona V, David A, Dugast C, Gilbert-Dussardier B, Ingster O, Vabres P, Caux F, de Reynies A, Iggo R, Sevenet N, Bonnet F, Longy M

Breast Cancer Res. 2010;12(4):R63

Polyethylenimine-mediated in vivo gene transfer of a transmembrane superantigen fusion construct inhibits B16 murine melanoma growth.

Jeudy G, Salvadori F, Chauffert B, Solary E, Vabres P, Chluba J

Cancer Gene Ther. 2008 Nov;15(11):742-9

[Genetic susceptibility to skin cancers]

Vabres P

Presse Med. 2008 Oct;37(10):1480-3

[Congenital melanotic macules of the tongue]

Marque M, Vabres P, Prigent F, Guillot B, Bessis D

Ann Dermatol Venereol. 2008 Aug-Sep;135(8-9):567-70

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

Quereux G, Marques S, Nguyen JM, Bedane C, D'incan M, Dereure O, Puzenat E, Claudy A, Martin L, Joly P, Delaunay M, Beylot-Barry M, Vabres P, Celerier P, Sasolas B, Grange F, Khammari A, Dreno B

Arch Dermatol. 2008 Jun;144(6):727-33.