Search Results - "Vabres, P."

Mosaic abnormalities of the skin: review and guidelines from the European Reference Network for rare skin diseases by Kinsler, V.A., Boccara, O., Fraitag, S., Torrelo, A., Vabres, P., Diociaiuti, A.

“…Summary Background Cutaneous mosaicism is an area of dermatology in which there has been an explosion of knowledge within the current decade. This has led to…”
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Skin conditions among 20th century politicians and world leaders by Kluger, N., Perciaccante, A., Charlier, P., Vabres, P.

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皮肤镶嵌综述 by Kinsler, V.A., Boccara, O., Fraitag, S., Torrelo, A., Vabres, P., Diociauti, A.

“…Summary 皮肤镶嵌是一组疾病的术语,患者皮肤内并行存在两个或多个基因不同的细胞群。这属于皮肤病学领域,在最近十年期间,这一领域的知识激增。这使得对该领域疾病的理解发生了根本性变化,治疗镶嵌性皮肤病的方法也不断发生变化。 在这项专业综述中,作为欧洲参考网络项目 (ERN‐Skin)…”
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A review of cutaneous mosaicism by Kinsler, V.A., Boccara, O., Fraitag, S., Torrelo, A., Vabres, P., Diociauti, A.

“…Summary Cutaneous mosaicism is a term used for a group of disorders in which a person has two or more genetically different populations of cells existing side…”
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Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment 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.

“…Summary Background Epidermolysis bullosa simplex generalized severe (EBS‐gen sev) is a genetic disorder caused by mutation in the KRT5 or KRT14 genes. Although…”
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OC18.04: Clinical and molecular data in case of prenatal localised overgrowth disorders: major implication of variants in the PI3K‐AKT‐mTOR signalling pathway by Bourgon, N., Carmignac, V., Sorlin, A., Duffour, Y., Philippe, C., Thauvin, C., Guibaud, L., Faivre, L., Vabres, P., Kuentz, P.

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Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome by Carmignac, V., Salomon, G., Severino‐Freire, M., Duffourd, Y., Chevarin, M., Vabres, P., Mazereeuw‐Hautier, J.

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

“…Background Postzygotic mutations in FGFR2 have been identified in mosaic forms of acne, keratinocytic epidermal nevi, nevoid acanthosis nigricans / rounded and…”
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Efficacy and tolerability of methotrexate in severe childhood alopecia areata by Royer, M., Bodemer, C., Vabres, P., Pajot, C., Barbarot, S., Paul, C., Mazereeuw, J.

“…Summary Background  Alopecia areata (AA) occurring in childhood is associated with a poorer prognosis than adult AA and may severely affect quality of life…”
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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 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.

“…Summary Background Two pemphigus severity scores, Autoimmune Bullous Skin Disorder Intensity Score (ABSIS) and Pemphigus Disease Area Index (PDAI), have been…”
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Alopecia, deformed ear and mental retardation associated with terminal 21q deletion by Lafabregue, E, Chaby, G, Vabres, P, Carmi, E

“…Partial 21q monosomy is a rare condition with only a few cases being described in the literature. We report a new case associating congenital alopecia with 21q…”
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Successful switch to dabrafenib after vemurafenib-induced toxic epidermal necrolysis by Jeudy, G., Dalac-Rat, S., Bonniaud, B., Hervieu, A., Petrella, T., Collet, E., Vabres, P.

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

“…ABSTRACT Purpose PIK3CA pathogenic variants in the PIK3CA-related overgrowth spectrum (PROS) activate phosphoinositide 3-kinase signaling, providing a…”
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Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia by Heinz, L., Bourrat, E., Vabres, P., Thevenon, J., Hotz, A., Hörer, S., Küsel, J., Zimmer, A.D., Alter, S., Happle, R., Fischer, J.

“…Summary Focal dermal hypoplasia (FDH, Goltz syndrome, MIM #305600) constitutes a rare multisystem genetic disorder of the skin, skeleton, teeth and eyes with…”
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Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome by Polubothu, S., Scott, R.H., Vabres, P., Kinsler, V.A.

“…A twenty-three month old female presented with abnormal pigmentation since birth. She had a past history of mediastinal non-Hodgkin's lymphoma diagnosed at the…”
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Hyaluronan, embryogenesis and morphogenesis by Vabres, P

“…Hyaluronan is a major carbohydrate component of the extracellular matrix. Besides its structural role, it also appears to regulate cell transformation and…”
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Psoriasis and obesity in French children: a case-control, multicentre study 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.

“…Summary Background Obesity is more common in adults with psoriasis than in the general population, but there is a lack of data available regarding this…”
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Expanding the clinical spectrum of mosaic BRAF skin phenotypes 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.

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

“…Constitutional dominant loss-of-function mutations in the SPRED1 gene cause a rare phenotype referred as neurofibromatosis type 1 (NF1)-like syndrome or Legius…”
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Mosaicism in women with focal dermal hypoplasia by Heinz, L., Bourrat, E., Vabres, P., Thevenon, J., Hotz, A., Hörer, S., Küsel, J., Zimmer, A.D., Alter, S., Happle, R., Fischer, J.

“…Summary This report from Germany and France describes four women with focal dermal hypoplasia (FDH), a genetic condition affecting the skin, skeleton, teeth…”
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