Management of congenital ichthyoses

Autor: Khaled Ezzedine, Emmanuelle Bourrat, Anette Bygum, Anders Vahlquist, Christine Bodemer, A. Pietrzak, Smail Hadj-Rabia, Judith Fischer, C. Gouveia, Andrea Diociaiuti, Hagen Ott, Juliette Mazereeuw-Hautier, D.G. Paige, A. Audouze, Robert Gruber, Michael C. Rodriguez, Heiko Traupe, Matthias Schmuth, C. Amaro, D. Maier, G. Wehr, Edel A. O'Toole, M. El Hachem, M. Moreen, J.C. Sitek, Daniel Hohl, Ángela Hernández‐Martín, Agneta Gånemo, Vinzenz Oji, Nathalie Jonca, Isabelle Dreyfus, Raman Malhotra, Mateja Dolenc-Voljč, M. Aldwin, P.M. Steijlen, F. Poot

Publikováno v: British Journal of Dermatology, 180(3), 484-495. Wiley
British Journal of Dermatology
British Journal of Dermatology, Wiley, 2019, 180 (3), pp.484-495. ⟨10.1111/bjd.16882⟩
Mazereeuw-Hautier, J, Hernandez-Martin, A, O'Toole, E A, Bygum, A, Amaro, C, Aldwin, M, Audouze, A, Bodemer, C, Bourrat, E, Diociaiuti, A, Dolenc-Voljc, M, Dreyfus, I, El Hachem, M, Fischer, J, Ganemo, A, Gouveia, C, Gruber, R, Hadj-Rabia, S, Hohl, D, Jonca, N, Ezzedine, K, Maier, D, Malhotra, R, Rodriguez, M, Ott, H, Paige, D G, Pietrzak, A, Poot, F, Schmuth, M, Sitek, J C, Steijlen, P, Wehr, G, Moreen, M, Vahlquist, A, Traupe, H & Oji, V 2019, ' Management of congenital ichthyoses : European guidelines of care: Part Two ', British Journal of Dermatology, vol. 180, no. 3, pp. 484-495 . https://doi.org/10.1111/bjd.16882

These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016, and a consensus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d90b030e94f155c32b0dd13839b8759d
https://doi.org/10.1111/bjd.16882

Congenital ichthyoses: European guidelines of care, part two

Autor: Edel A. O'Toole, F. Poot, C. Amaro, Angela Hernández-Martín, Raman Malhotra, Mateja Dolenc-Voljč, Christine Bodemer, M. Moreen, A. Pietrzak, J. Fischer, Juliette Mazereeuw-Hautier, M. Aldwin, P.M. Steijlen, Agneta Gånemo, Vinzenz Oji, D. Maier, Geske Wehr, Hagen Ott, Michael C. Rodriguez, Matthias Schmuth, M. El Hachem, Khaled Ezzedine, Daniel Hohl, Nathalie Jonca, Anette Bygum, J.C. Sitek, D. Paige, Robert Gruber, A. Audouze, Anders Vahlquist, Andrea Diociaiuti, Emmanuelle Bourrat, Heiko Traupe, C. Gouveia, Isabelle Dreyfus, Smail Hadj-Rabia

Publikováno v: British Journal of Dermatology. 180

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::836f520fcbe2f5bfc42bd257dd30d571
https://doi.org/10.1111/bjd.17552

Whole-exome sequencing for diagnosis of hereditary ichthyosis

Autor: K.B. Rypdal, L. Retterstøl, Ying Sheng, M.A. Kulseth, J.C. Sitek, T. Skodje

Publikováno v: Journal of the European Academy of Dermatology and Venereology : JEADV. 32(6)

BACKGROUND Hereditary ichthyosis constitutes a diverse group of cornification disorders. Identification of the molecular cause facilitates optimal patient care. OBJECTIVE We wanted to estimate the diagnostic yield of applying whole-exome sequencing (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc00168c3464eef16476c0e4e52f4035
https://pubmed.ncbi.nlm.nih.gov/29444371

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