Importance of therapeutic patient education in ichthyosis: results of a prospective single reference center study

por Dufresne, Helene, Hadj-Rabia, Smail, Taïeb, Charles, Bodemer, Christine
Publicado 2013

A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement

por Schneider, Holm, Schweikl, Christine, Faschingbauer, Florian, Hadj-Rabia, Smail, Schneider, Pascal
Publicado 2023

The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score

por DUFRESNE, Hélène, MAINCENT, Oriane, TAIEB, Charles, BODEMER, Christine, HADJ-RABIA, Smail
Publicado 2023

Incontinentia pigmenti burden scale: designing a family burden questionnaire

por Taieb, Charles, Hadj-Rabia, Smail, Monnet, Jacques, Bennani, Mohammed, Bodemer, Christine
Publicado 2019

Family burden in inherited ichthyosis: creation of a specific questionnaire

por Dufresne, Hélène, Hadj-Rabia, Smail, Méni, Cécile, Sibaud, Vincent, Bodemer, Christine, Taïeb, Charles
Publicado 2013

The Fate of Epidermal Tight Junctions in the stratum corneum: Their Involvement in the Regulation of Desquamation and Phenotypic Expression of Certain Skin Conditions

por Haftek, Marek, Oji, Vinzenz, Feldmeyer, Laurence, Hohl, Daniel, Hadj-Rabia, Smaïl, Abdayem, Rawad
Publicado 2022

Challenges in Treating Genodermatoses: New Therapies at the Horizon

por Morren, Marie-Anne, Legius, Eric, Giuliano, Fabienne, Hadj-Rabia, Smail, Hohl, Daniel, Bodemer, Christine
Publicado 2022

Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia

por ALSAFRI, Maleha S., CHARBIT-HENRION, Fabienne, LACAILLE, Florence, BOURRAT, Emmanuelle, STEFFANN, Julie, HADJ-RABIA, Smail
Publicado 2020

Early management of sight threatening retinopathy in incontinentia pigmenti

por Michel, Sarah, Reynaud, Clothilde, Daruich, Alejandra, Hadj-Rabia, Smail, Bremond-Gignac, Dominique, Bodemer, Christine, Robert, Matthieu P.
Publicado 2020

Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype

por Fertitta, Laura, Charbit-Henrion, Fabienne, Leclerc-Mercier, Stéphanie, Nguyen-Khoa, Thao, Baran, Robert, Alby, Caroline, Steffann, Julie, Sermet-Gaudelus, Isabelle, Hadj-Rabia, Smail
Publicado 2022

Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study

por Sbidian, Emilie, Hadj-Rabia, Smaïl, Riccardi, Vincent M, Valeyrie-Allanore, Laurence L, Barbarot, Sébastien, Chosidow, Olivier, Ferkal, Salah, Rodriguez, Diana, Wolkenstein, Pierre, Bastuji-Garin, Sylvie
Publicado 2012

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation

por Moreno-Artero, Ester, Morice-Picard, Fanny, Lasseaux, Eulalie, Robert, Matthieu P., Coste, Valentine, Michaud, Vincent, Leclerc-Mercier, Stéphanie, Bremond-Gignac, Dominique, Arveiler, Benoit, Hadj-Rabia, Smail
Publicado 2022

Improvement of epidermal covering on AEC patients with severe skin erosions by PRIMA-1(MET)/APR-246

por Aberdam, Edith, Roux, Lauriane N., Secrétan, Philippe-Henri, Boralevi, Franck, Schlatter, Joël, Morice-Picard, Fanny, Sol, Stefano, Bodemer, Christine, Missero, Caterina, Cisternino, Salvatore, Aberdam, Daniel, Hadj-Rabia, Smail
Publicado 2020

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma*

por HARJAMA, Liisa, KETTUNEN, Kaisa, ELOMAA, Outi, EINARSDOTTIR, Elisabet, HEIKKILÄ, Hannele, KIVIRIKKO, Sirpa, LAPPALAINEN, Katriina, SAARELA, Janna, ALBY, Caroline, RANKI, Annamari, KERE, Juha, HADJ-RABIA, Smail, HANNULA-JOUPPI, Katariina
Publicado 2020

Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France

por Duong, Tu Anh, Sbidian, Emilie, Valeyrie-Allanore, Laurence, Vialette, Cédric, Ferkal, Salah, Hadj-Rabia, Smaïl, Glorion, Christophe, Lyonnet, Stanislas, Zerah, Michel, Kemlin, Isabelle, Rodriguez, Diana, Bastuji-Garin, Sylvie, Wolkenstein, Pierre
Publicado 2011

Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia

por Schneider, Holm, Hadj-Rabia, Smail, Faschingbauer, Florian, Bodemer, Christine, Grange, Dorothy K., Norton, Mary E., Cavalli, Riccardo, Tadini, Gianluca, Stepan, Holger, Clarke, Angus, Guillén-Navarro, Encarna, Maier-Wohlfart, Sigrun, Bouroubi, Athmane, Porte, Florence
Publicado 2023

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

por Hadj-Rabia, Smail, Callewaert, Bert L, Bourrat, Emmanuelle, Kempers, Marlies, Plomp, Astrid S, Layet, Valerie, Bartholdi, Deborah, Renard, Marjolijn, Backer, Julie De, Malfait, Fransiska, Vanakker, Olivier M, Coucke, Paul J, De Paepe, Anne M, Bodemer, Christine
Publicado 2013

Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update

por Peschel, Nicolai, Wright, John T., Koster, Maranke I., Clarke, Angus J., Tadini, Gianluca, Fete, Mary, Hadj-Rabia, Smail, Sybert, Virginia P., Norderyd, Johanna, Maier-Wohlfart, Sigrun, Fete, Timothy J., Pagnan, Nina, Visinoni, Atila F., Schneider, Holm
Publicado 2022

Impact of claudin‐10 deficiency on amelogenesis: Lesson from a HELIX tooth

por Obtel, Nicolas, Le Cabec, Adeline, Nguyen, Thè Nghia, Giabicani, Eloise, Van Malderen, Stijn J. M., Garrevoet, Jan, Percot, Aline, Paris, Céline, Dean, Christopher, Hadj‐Rabia, Smail, Houillier, Pascal, Breiderhoff, Tilman, Bardet, Claire, Coradin, Thibaud, Ramirez Rozzi, Fernando, Chaussain, Catherine
Publicado 2022

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

por El Hachem, May, Zambruno, Giovanna, Bourdon-Lanoy, Eva, Ciasulli, Annalisa, Buisson, Christiane, Hadj-Rabia, Smail, Diociaiuti, Andrea, Gouveia, Carolina F, Hernández-Martín, Angela, de Lucas Laguna, Raul, Dolenc-Voljč, Mateja, Tadini, Gianluca, Salvatori, Guglielmo, De Ranieri, Cristiana, Leclerc-Mercier, Stephanie, Bodemer, Christine
Publicado 2014