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Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 244, doi. 10.1111/cge.12361
By:
- 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, A. F.;
- Boralevi, F.;
- González‐Enseñat, M. A.;
- Rio, M.;
- Bodemer, C.;
- Philip, N.
Publication type:
Article
SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia.
Published in:
Oncogene, 2015, v. 34, n. 5, p. 631, doi. 10.1038/onc.2013.587
By:
- 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
Publication type:
Article
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway.
Published in:
Ultrasound in Obstetrics & Gynecology, 2022, v. 59, n. 4, p. 532, doi. 10.1002/uog.23715
By:
- Bourgon, N.;
- Carmignac, V.;
- Sorlin, A.;
- Duffourd, Y.;
- Philippe, C.;
- Thauvin‐Robinet, C.;
- Guibaud, L.;
- Faivre, L.;
- Vabres, P.;
- Kuentz, P.;
- Tisserand, Emilie;
- Chevarin, Martin;
- Delanne, Julian;
- Jouan, Thibaud;
- Pöe, Charlotte;
- Abel, Carine;
- Allory, Patrick;
- Amram, Daniel;
- Attie‐Bitach, Tania;
- Aziza, Jacqueline
Publication type:
Article
OC18.04: Clinical and molecular data in case of prenatal localised overgrowth disorders: major implication of variants in the PI3K‐AKT‐mTOR signalling pathway.
Published in:
Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 52, doi. 10.1002/uog.23909
By:
- Bourgon, N.;
- Carmignac, V.;
- Sorlin, A.;
- Duffour, Y.;
- Philippe, C.;
- Thauvin, C.;
- Guibaud, L.;
- Faivre, L.;
- Vabres, P.;
- Kuentz, P.
Publication type:
Article
Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome.
Published in:
British Journal of Dermatology, 2021, v. 185, n. 6, p. 1247, doi. 10.1111/bjd.20603
By:
- Carmignac, V.;
- Salomon, G.;
- Severino‐Freire, M.;
- Duffourd, Y.;
- Chevarin, M.;
- Vabres, P.;
- Mazereeuw‐Hautier, J.
Publication type:
Article
‘Matchstick’ eyebrow hairs: a dermoscopic clue to the diagnosis of Netherton syndrome.
Published in:
2010
By:
- Goujon, E.;
- Beer, F.;
- Fraitag, S.;
- Hovnanian, A.;
- Vabres, P.
Publication type:
Letter
Linear atrophoderma of moulin associated with antinuclear antibodies.
Published in:
2010
By:
- Ripert, C.;
- Vabres, P.
Publication type:
Letter
Incontinentia Pigmenti: Late Sequelae and Genotypic Diagnosis: A Three-Generation Study of Four Patients.
Published in:
Pediatric Dermatology, 1995, v. 12, n. 2, p. 107, doi. 10.1111/j.1525-1470.1995.tb00135.x
By:
- Dutheil, P.;
- Vabres, P.;
- Cayla, M. C. Hors;
- Enjolras, O.
Publication type:
Article
Polyethylenimine-mediated in vivo gene transfer of a transmembrane superantigen fusion construct inhibits B16 murine melanoma growth.
Published in:
Cancer Gene Therapy, 2008, v. 15, n. 11, p. 742, doi. 10.1038/cgt.2008.42
By:
- Jeudy, G.;
- Salvadori, F.;
- Chauffert, B.;
- Solary, E.;
- Vabres, P.;
- Chluba, J.
Publication type:
Article
Skin conditions among 20th century politicians and world leaders.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2021, v. 35, n. 12, p. 2346, doi. 10.1111/jdv.17545
By:
- Kluger, N.;
- Perciaccante, A.;
- Charlier, P.;
- Vabres, P.
Publication type:
Article
Expanding the clinical spectrum of mosaic BRAF skin phenotypes.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2021, v. 35, n. 10, p. e690, doi. 10.1111/jdv.17413
By:
- 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, J.‐B.;
- Vabres, P.;
- Kuentz, P.
Publication type:
Article
Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2021, v. 35, n. 10, p. 2085, doi. 10.1111/jdv.17319
By:
- 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.
Publication type:
Article
Active tuberculosis in psoriasis patients treated with TNF antagonists: a French nationwide retrospective study.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2016, v. 30, n. 8, p. 1336, doi. 10.1111/jdv.13633
By:
- Guinard, E.;
- Bulai Livideanu, C.;
- Barthélémy, H.;
- Viguier, M.;
- Reguiai, Z.;
- Richard, M.A.;
- Jullien, D.;
- Beneton, N.;
- Bara, C.;
- Vabres, P.;
- Grandvuillemin, A.;
- Marguery, M.C.;
- Amelot, F.;
- Konstantinou, M.P.;
- Bagheri, H.;
- Paul, C.
Publication type:
Article
Validation of a clinical evaluation score for irritative dermatitis: SCOREPI.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2013, v. 27, n. 9, p. 1138, doi. 10.1111/j.1468-3083.2012.04678.x
By:
- Le Maître, M.;
- Crickx, B.;
- Lacour, J.P.;
- Bagot, M.;
- Chevallier, J. ‐ M.;
- Cribier, B.;
- Doutre, M. ‐ S.;
- Giordano ‐ Labadie, F.;
- Guillot, B.;
- Joly, P.;
- Schmutz, J. ‐ L.;
- Vabres, P.;
- BENsimon, D.
Publication type:
Article
Treatment of granuloma annulare with the 595-nm pulsed dye laser, a multicentre retrospective study with long-term follow-up.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2013, v. 27, n. 6, p. 785, doi. 10.1111/j.1468-3083.2011.04402.x
By:
- Passeron, T.;
- Fusade, T.;
- Vabres, P.;
- Bousquet ‐ Rouaud, R.;
- Collet ‐ Vilette, A. ‐ M.;
- Dahan, S.;
- Toubel, G.
Publication type:
Article
Atypical Lyme borreliosis in an HIV -- infected man.
Published in:
British Journal of Dermatology, 1997, v. 137, n. 3, p. 437, doi. 10.1111/j.1365-2133.1997.tb03754.x
By:
- Cordoliani, F.;
- Vignon-Pennamen, M. D.;
- Assous, M. V.;
- Vabres, P.;
- Dronne, P.;
- Rybojad, M.;
- Morel, P.
Publication type:
Article
Two unusual tumors in a patient with xeroderma pigmentosum: atypical fibroxanthoma and basosquamous carcinoma.
Published in:
Journal of Cutaneous Pathology, 1999, v. 26, n. 9, p. 430, doi. 10.1111/j.1600-0560.1999.tb01870.x
By:
- Youssef, N.;
- Vabres, P.;
- Buisson, T.;
- Brousse, N.;
- Fraitag, S.
Publication type:
Article
皮肤镶嵌综述.
Published in:
British Journal of Dermatology, 2020, v. 182, n. 3, p. e107, doi. 10.1111/bjd.18838
By:
- Kinsler, V.A.;
- Boccara, O.;
- Fraitag, S.;
- Torrelo, A.;
- Vabres, P.;
- Diociauti, A.
Publication type:
Article
A review of cutaneous mosaicism.
Published in:
British Journal of Dermatology, 2020, v. 182, n. 3, p. e94, doi. 10.1111/bjd.18825
By:
- Kinsler, V.A.;
- Boccara, O.;
- Fraitag, S.;
- Torrelo, A.;
- Vabres, P.;
- Diociauti, A.
Publication type:
Article
Mosaic abnormalities of the skin: review and guidelines from the European Reference Network for rare skin diseases.
Published in:
British Journal of Dermatology, 2020, v. 182, n. 3, p. 552, doi. 10.1111/bjd.17924
By:
- Kinsler, V.A.;
- Boccara, O.;
- Fraitag, S.;
- Torrelo, A.;
- Vabres, P.;
- Diociaiuti, A.
Publication type:
Article
局灶性真皮发育不全女性中的嵌合现象.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 3, p. e97, doi. 10.1111/bjd.17569
By:
- Heinz, L.;
- Bourrat, E.;
- Vabres, P.;
- Thevenon, J.;
- Hotz, A.;
- Hörer, S.;
- Küsel, J.;
- Zimmer, A.D.;
- Alter, S.;
- Happle, R.;
- Fischer, J.
Publication type:
Article
Mosaicism in women with focal dermal hypoplasia.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 3, p. e81, doi. 10.1111/bjd.17553
By:
- Heinz, L.;
- Bourrat, E.;
- Vabres, P.;
- Thevenon, J.;
- Hotz, A.;
- Hörer, S.;
- Küsel, J.;
- Zimmer, A.D.;
- Alter, S.;
- Happle, R.;
- Fischer, J.
Publication type:
Article
Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 3, p. 657, doi. 10.1111/bjd.17024
By:
- Heinz, L.;
- Bourrat, E.;
- Vabres, P.;
- Thevenon, J.;
- Hotz, A.;
- Hörer, S.;
- Küsel, J.;
- Zimmer, A.D.;
- Alter, S.;
- Happle, R.;
- Fischer, J.
Publication type:
Article
泛发重度 EBS 是一种炎症性疾病.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 2, p. e57, doi. 10.1111/bjd.17488
By:
- Castela, E.;
- Tulic, M.K.;
- Rozières, A.;
- Bourrat, E.;
- Nicolas, J.‐F.;
- Kanitakis, J.;
- Vabres, P.;
- Bessis, D.;
- Mazereeuw, J.;
- Morice‐Picard, F.;
- Baty, D.;
- Berard, F.;
- Lacour, J.‐P.;
- Passeron, T.;
- Chiaverini, C.
Publication type:
Article
EBS generalized severe is an inflammatory disease.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 2, p. e44, doi. 10.1111/bjd.17475
By:
- Castela, E.;
- Tulic, M.K.;
- Rozières, A.;
- Bourrat, E.;
- Nicolas, J.‐F.;
- Kanitakis, J.;
- Vabres, P.;
- Bessis, D.;
- Mazereeuw, J.;
- Morice‐Picard, F.;
- Baty, D.;
- Berard, F.;
- Lacour, J.‐P.;
- Passeron, T.;
- Chiaverini, C.
Publication type:
Article
Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 2, p. 357, doi. 10.1111/bjd.16897
By:
- Castela, E.;
- Tulic, M.K.;
- Rozières, A.;
- Bourrat, E.;
- Nicolas, J.‐F.;
- Kanitakis, J.;
- Vabres, P.;
- Bessis, D.;
- Mazereeuw, J.;
- Morice‐Picard, F.;
- Baty, D.;
- Berard, F.;
- Lacour, J.‐P.;
- Passeron, T.;
- Chiaverini, C.
Publication type:
Article
Clinical and haemodynamic risk factors associated with discrepancies in lower limb length with capillary malformations: data from the national paediatric French cohort CONAPE.
Published in:
British Journal of Dermatology, 2018, v. 178, n. 2, p. 520, doi. 10.1111/bjd.16017
By:
- 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.
Publication type:
Article
Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome.
Published in:
British Journal of Dermatology, 2017, v. 177, n. 5, p. e185, doi. 10.1111/bjd.15532
By:
- Polubothu, S.;
- Scott, R.H.;
- Vabres, P.;
- Kinsler, V.A.
Publication type:
Article
Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus.
Published in:
British Journal of Dermatology, 2017, v. 176, n. 1, p. 204, doi. 10.1111/bjd.14681
By:
- Kuentz, P.;
- Fraitag, S.;
- Gonzales, M.;
- Dhombres, F.;
- St ‐ Onge, J.;
- Duffourd, Y.;
- Joyé, N.;
- Jouannic, J. ‐ M.;
- Picard, A.;
- Marle, N.;
- Thevenon, J.;
- Thauvin ‐ Robinet, C.;
- Faivre, L.;
- Rivière, J. ‐ B.;
- Vabres, P.
Publication type:
Article
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.
Published in:
British Journal of Dermatology, 2016, v. 175, n. 1, p. 142, doi. 10.1111/bjd.14405
By:
- Boulard, C.;
- Duvert Lehembre, S.;
- Picard ‐ Dahan, C.;
- Kern, J.S.;
- Zambruno, G.;
- Feliciani, C.;
- Marinovic, B.;
- Vabres, P.;
- Borradori, L.;
- Prost ‐ Squarcioni, C.;
- Labeille, B.;
- Richard, M.A.;
- Ingen ‐ Housz ‐ Oro, S.;
- Houivet, E.;
- Werth, V.P.;
- Murrell, D.F.;
- Hertl, M.;
- Benichou, J.;
- Joly, P.;
- Hofmann, S.
Publication type:
Article
Oral erythromycin therapy in epidermolysis bullosa simplex generalized severe.
Published in:
British Journal of Dermatology, 2015, v. 173, n. 2, p. 563, doi. 10.1111/bjd.13672
By:
- Chiaverini, C.;
- Fontas, E.;
- Vabres, P.;
- Bessis, D.;
- Mazereeuw, J.;
- Charlesworth, A.;
- Meneguzzi, G.;
- Lacour, J.‐P.
Publication type:
Article
Psoriasis and obesity in French children: a case-control, multicentre study.
Published in:
British Journal of Dermatology, 2015, v. 172, n. 6, p. 1593, doi. 10.1111/bjd.13507
By:
- Mahé, E.;
- Beauchet, A.;
- Bodemer, C.;
- Phan, A.;
- Bursztejn, A.‐C.;
- Boralevi, F.;
- Souillet, A.‐L.;
- Chiaverini, C.;
- Bourrat, E.;
- Miquel, J.;
- Vabres, P.;
- Barbarot, S.;
- Bessis, D.;
- Eschard, C.;
- Hadj‐Rabia, S.
Publication type:
Article
Successful switch to dabrafenib after vemurafenib-induced toxic epidermal necrolysis.
Published in:
British Journal of Dermatology, 2015, v. 172, n. 5, p. 1454, doi. 10.1111/bjd.13522
By:
- Jeudy, G.;
- Dalac‐Rat, S.;
- Bonniaud, B.;
- Hervieu, A.;
- Petrella, T.;
- Collet, E.;
- Vabres, P.
Publication type:
Article
Treatment of port wine stains with pulsed dye laser and topical timolol: a multicenter randomized controlled trial.
Published in:
British Journal of Dermatology, 2014, v. 170, n. 6, p. 1350, doi. 10.1111/bjd.12772
By:
- Passeron, T.;
- Maza, A.;
- Fontas, E.;
- Toubel, G.;
- Vabres, P.;
- Livideanu, C.;
- Mazer, J. ‐ M.;
- Rossi, B.;
- Boukari, F.;
- Harmelin, Y.;
- Dreyfus, I.;
- Mazereeuw ‐ Hautier, J.;
- Lacour, J. ‐ P.
Publication type:
Article
Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study.
Published in:
British Journal of Dermatology, 2014, v. 170, n. 4, p. 901, doi. 10.1111/bjd.12741
By:
- Chiaverini, C.;
- Charlesworth, A.;
- Fernandez, A.;
- Barbarot, S.;
- Bessis, D.;
- Bodemer, C.;
- Bursztejn, A.‐C.;
- Cobo, A.‐M.;
- Del Rio, M.;
- D'Incan, M.;
- Labrèze, C.;
- Langlet, C.;
- Mazereeuw, J.;
- Miquel, J.;
- Vabres, P.;
- Meneguzzi, G.;
- Lacour, J.‐P.
Publication type:
Article
Efficacy and tolerability of methotrexate in severe childhood alopecia areata.
Published in:
British Journal of Dermatology, 2011, v. 165, n. 2, p. 407, doi. 10.1111/j.1365-2133.2011.10383.x
By:
- Royer, M.;
- Bodemer, C.;
- Vabres, P.;
- Pajot, C.;
- Barbarot, S.;
- Paul, C.;
- Mazereeuw, J.
Publication type:
Article
Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review.
Published in:
British Journal of Dermatology, 2005, v. 153, n. 2, p. 310, doi. 10.1111/j.1365-2133.2005.06664.x
By:
- Boralevi, F.;
- Haftek, M.;
- Vabres, P.;
- Lepreux, S.;
- Goizet, C.;
- Leaute-Labreze, C.;
- Taieb, A.
Publication type:
Article
Primary cutaneous B-cell lymphoma mimicking pyoderma gangrenosum: first-line treatment with rituximab.
Published in:
2004
By:
- Lami, M.-C.;
- Vabres, P.;
- Dreyfus, B.;
- Germain, T.;
- Guillet, G.
Publication type:
Letter
The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.
Published in:
Human Molecular Genetics, 1994, v. 3, n. 2, p. 273
By:
- Smahl, A.;
- Hyden-Granskog, C.;
- Peterlin, B.;
- Vabres, P.;
- Heuertz, S.;
- Fulchlgnoni-Lataud, M.C.;
- Dahl, N.;
- Labrune, P.;
- Marec, B.Le;
- PIussan, C.;
- Taleb, A.;
- Koskul, H.von;
- Hors-Cayla, M.C.
Publication type:
Article
Genotypes and Phenotypes of 162 Families with a Glomulin Mutation.
Published in:
Molecular Syndromology, 2013, v. 4, n. 4, p. 157, doi. 10.1159/000348675
By:
- Brouillard, P.;
- Boon, L.M.;
- Revencu, N.;
- Berg, J.;
- Dompmartin, A.;
- Dubois, J.;
- Garzon, M.;
- Holden, S.;
- Kangesu, L.;
- Labrèze, C.;
- Lynch, S.A.;
- McKeown, C.;
- Meskauskas, R.;
- Quere, I.;
- Syed, S.;
- Vabres, P.;
- Wassef, M.;
- Mulliken, J.B.;
- Vikkula, M.
Publication type:
Article

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