New developments in the molecular treatment of ichthyosis: review of the literature
Joosten, M D W, Clabbers, J M K, Jonca, N, Mazereeuw-Hautier, J, Gostyński, A H
Published in Orphanet journal of rare diseases (15.07.2022)
Published in Orphanet journal of rare diseases (15.07.2022)
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Journal Article
Management of congenital ichthyoses: European guidelines of care, part one
Mazereeuw‐Hautier, J., Vahlquist, A., Traupe, H., Bygum, A., Amaro, C., Aldwin, M., Audouze, A., Bodemer, C., Bourrat, E., Diociaiuti, A., Dolenc‐Voljc, M., Dreyfus, I., El Hachem, M., Fischer, J., Gånemo, 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., O'Toole, E.A., Oji, V., Hernandez‐Martin, A.
Published in British journal of dermatology (1951) (01.02.2019)
Published in British journal of dermatology (1951) (01.02.2019)
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Journal Article
Management of congenital ichthyoses: European guidelines of care, part two
Mazereeuw‐Hautier, J., Hernández‐Martín, A., O'Toole, E.A., Bygum, A., Amaro, C., Aldwin, M., Audouze, A., Bodemer, C., Bourrat, E., Diociaiuti, A., Dolenc‐Voljč, 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.
Published in British journal of dermatology (1951) (01.03.2019)
Published in British journal of dermatology (1951) (01.03.2019)
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Journal Article
Patients with autosomal recessive congenital ichthyosis present a distinctive pattern of alopecia
Challamel, C, Hernandez-Martin, A, Tchitchiama, C, Jonca, N, Rossel, S V J, Gostyński, A, Mazereeuw-Hautier, J
Published in Journal of the European Academy of Dermatology and Venereology (01.11.2023)
Published in Journal of the European Academy of Dermatology and Venereology (01.11.2023)
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Journal Article
A retrospective study on the liver toxicity of oral retinoids in Chanarin–Dorfman syndrome
Valette, C., Jonca, N., Fischer, J., Pernin‐Grandjean, J., Granier Tournier, C., Diociaiuti, A., Neri, I., Dreyfus, I., Furman, M., Giehl, K., Wollenberg, A., Mallet, S., Martin, L., Martin‐Santiago, A., Onnis, G., Broue, P., Leclerc‐Mercier, S., Schmuth, M., Sprecher, E., Gruber, R., Suessmuth, K., Bourrat, E., Komlosi, K., Hill, S., O'Toole, E. A., Schischmanoff, O., Caux, F., Mazereeuw‐Hautier, J.
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2023)
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2023)
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Journal Article
French national protocol for the management of congenital ichthyosis
Severino-Freire, M., Granier Tournier, C., Chiaverini, C., Audouze, A., Morice-Picard, F., Texier, H., Dreyfus, I., Bing-Lecointe, A.-C., Mallet, S., Bodemer, C., Fischer, J., Jonca, N., Mazereeuw-Hautier, J.
Published in Annales de dermatologie et de vénéréologie (01.03.2024)
Published in Annales de dermatologie et de vénéréologie (01.03.2024)
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Journal Article
KLICK syndrome: an unusual phenotype
Onnis, G., Bourrat, E., Jonca, N., Dreyfus, I., Severino‐Freire, M., Pichery, M., Fischer, J., Mazereeuw‐Hautier, J.
Published in British journal of dermatology (1951) (01.06.2018)
Published in British journal of dermatology (1951) (01.06.2018)
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Journal Article
Acantholytic dyskeratotic epidermal naevus and striate palmoplantar keratoderma associated with DSG1 mutation: evidence for segmental type 2 mosaicism
Blecic, A.‐S., Pernin, J., Jonca, N., Mazereeuw‐Hautier, J., Jullie, M.‐L., Cario‐André, M., Léauté‐Labrèze, C., Boralevi, F., Morice‐Picard, F.
Published in Journal of the European Academy of Dermatology and Venereology (01.06.2021)
Published in Journal of the European Academy of Dermatology and Venereology (01.06.2021)
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Journal Article
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis
Hotz, Alrun, Oji, Vinzenz, Bourrat, Emmanuelle, Jonca, Nathalie, Mazereeuw-Hautier, Juliette, Betz, Regina C, Blume-Peytavi, Ulrike, Stieler, Karola, Morice-Picard, Fanny, Schönbuchner, Ines, Markus, Susanne, Schlipf, Nina, Fischer, Judith
Published in Acta dermato-venereologica (01.01.2016)
Published in Acta dermato-venereologica (01.01.2016)
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Journal Article
Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B
Mallet, A., Kypriotou, M., George, K., Leclerc, E., Rivero, D., Mazereeuw-Hautier, J., Serre, G., Huber, M., Jonca, N., Hohl, D.
Published in British journal of dermatology (1951) (01.12.2013)
Published in British journal of dermatology (1951) (01.12.2013)
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Journal Article
A novel mutation in CDSN causes peeling skin disease in a patient from Morocco
Mazereeuw-Hautier, J., Leclerc, E.A., Simon, M., Serre, G., Jonca, N.
Published in British journal of dermatology (1951) (01.11.2011)
Published in British journal of dermatology (1951) (01.11.2011)
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Journal Article
先天性鱼鳞病 : 欧洲护理指南, 第二部分
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.
Published in British journal of dermatology (1951) (01.03.2019)
Published in British journal of dermatology (1951) (01.03.2019)
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Journal Article
Congenital ichthyoses: European guidelines of care, part two
Mazereeuw‐Hautier, J., Hernández‐Martín, A., O'Toole, E.A., Bygum, A., Amaro, C., Aldwin, M., Audouze, A., Bodemer, C., Bourrat, E., Diociaiuti, A., Dolenc‐Voljč, 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.
Published in British journal of dermatology (1951) (01.03.2019)
Published in British journal of dermatology (1951) (01.03.2019)
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Journal Article
Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis
Maier, D., Mazereeuw-Hautier, J., Tilinca, M., Cosgarea, R., Jonca, N.
Published in Clinical and experimental dermatology (01.04.2016)
Published in Clinical and experimental dermatology (01.04.2016)
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Journal Article
Ichthyosis prematurity syndrome: Two new cases
Severino-Freire, M, Bing Lecointe, A-C, Bourrat, E, Pichery, M, Jonca, N, Chiaverini, C, Mazereeuw-Hautier, J
Published in Annales de dermatologie et de vénéréologie (01.10.2018)
Published in Annales de dermatologie et de vénéréologie (01.10.2018)
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Journal Article
KLICK syndrome: recognizable phenotype and hot‐spot POMP mutation
Morice‐Picard, F., Jonca, N., Pichery, M., Mermin, D., Leauté‐Labrèze, C., Taïeb, A., Mazereeuw‐Hautier, J., Boralevi, F.
Published in Journal of the European Academy of Dermatology and Venereology (01.03.2017)
Published in Journal of the European Academy of Dermatology and Venereology (01.03.2017)
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Journal Article
Alterations in the desquamation-related proteolytic cleavage of corneodesmosin and other corneodesmosomal proteins in psoriatic lesional epidermis
Simon, M., Tazi-Ahnini, R., Jonca, N., Caubet, C., Cork, M.J., Serre, G.
Published in British journal of dermatology (1951) (01.07.2008)
Published in British journal of dermatology (1951) (01.07.2008)
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Journal Article
Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe
Mazereeuw-Hautier, Juliette, Chiaverini, Christine, Jonca, Nathalie, Bieth, Eric, Dreyfus, Isabelle, Maza, Aude, Cardot-Leccia, Nathalie, Perrin, Christophe, Lacour, Jean-Philippe
Published in Acta dermato-venereologica (01.01.2014)
Published in Acta dermato-venereologica (01.01.2014)
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Journal Article
The collodion baby
Mazereeuw-Hautier, J, Dreyfus, I, Corset, I, Leclerc-Mercier, S, Jonca, N, Bodemer, C
Published in Annales de dermatologie et de vénéréologie (01.03.2016)
Published in Annales de dermatologie et de vénéréologie (01.03.2016)
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Journal Article
759 Slowing down of skin aging by strengthening the cornified envelope with LCE6A biomimetic green peptide
Leignadier, J., Pancarte, M., Jonca, N., Serre, G., Attia, J.
Published in Journal of investigative dermatology (01.05.2023)
Published in Journal of investigative dermatology (01.05.2023)
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