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

od Dufresne, Helene, Hadj-Rabia, Smail, Taïeb, Charles, Bodemer, Christine
Wydane 2013

Incontinentia pigmenti burden scale: designing a family burden questionnaire

od Taieb, Charles, Hadj-Rabia, Smail, Monnet, Jacques, Bennani, Mohammed, Bodemer, Christine
Wydane w Orphanet J Rare Dis (2019)

Family burden in inherited ichthyosis: creation of a specific questionnaire

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

Early management of sight threatening retinopathy in incontinentia pigmenti

od Michel, Sarah, Reynaud, Clothilde, Daruich, Alejandra, Hadj-Rabia, Smail, Bremond-Gignac, Dominique, Bodemer, Christine, Robert, Matthieu P.
Wydane w Orphanet J Rare Dis (2020)

Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations

od Greco, Céline, Leclerc-Mercier, Stéphanie, Chaumon, Sarah, Doz, François, Hadj-Rabia, Smail, Molina, Thierry, Boucheix, Claude, Bodemer, Christine
Wydane w JAMA Dermatol (2020)

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

od 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
Wydane 2012-09-01

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

od 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
Wydane 2012

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

od 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
Wydane w Cell Death Dis (2020)

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

od 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
Wydane 2011

Homozygosity Mapping of a Locus for a Novel Syndromic Ichthyosis to Chromosome 3q27–q28

od Baala, Lekbir, Hadj-Rabia, Smaïl, Hamel-Teillac, Dominique, Hadchouel, Michelle, Prost, Catherine, Leal, Suzanne M., Jacquemin, Emmanuel, Sefiani, Abdelaziz, de Prost, Yves, Courtois, Gilles, Munnich, Arnold, Lyonnet, Stanislas, Vabres, Pierre
Wydane w J Invest Dermatol (2002)

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

od 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
Wydane 2013

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome

od Pacault, Mathilde, Vincent, Marie, Besnard, Thomas, Kannengiesser, Caroline, Bénéteau, Claire, Barbarot, Sébastien, Latypova, Xénia, Belabbas, Khaldia, Lamazière, Antonin, Winer, Norbert, Joubert, Madeleine, Bézieau, Stéphane, Isidor, Bertrand, Mercier, Sandra, Nizon, Mathilde, Leclerc-Mercier, Stéphanie, Hadj-Rabia, Smail, Dufernez, Fabienne
Wydane w Eur J Hum Genet (2018)

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

od 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
Wydane 2014

More than keratitis, ichthyosis, and deafness: multisystem effects of lethal GJB2 mutations

od Lilly, Evelyn, Bunick, Christopher G., Maley, Alexander M., Zhang, Shali, Spraker, Mary K, Theos, Amy J, Vivar, Karina L, Seminario-Vidal, Lucia, Bennett, Adam E, Sidbury, Robert, Ogawa, Yasushi, Akiyama, Masashi, Binder, Barbara, Hadj-Rabia, Smail, Morotti, Raffaella A., Glusac, Earl J., Choate, Keith A., Richard, Gabriele, Milstone, Leonard M
Wydane w J Am Acad Dermatol (2018)

Epithelial barrier dysfunction in desmoglein-1 deficiency

od Polivka, Laura, Hadj-Rabia, Smail, Bal, Elodie, Leclerc-Mercier, Stéphanie, Madrange, Marine, Hamel, Yamina, Bonnet, Damien, Mallet, Stéphanie, Lepidi, Hubert, Ovaert, Caroline, Barbet, Patrick, Dupont, Christophe, Neven, Bénédicte, Munnich, Arnold, Godsel, Lisa M., Campeotto, Florence, Weil, Robert, Laplantine, Emmanuel, Marchetto, Sylvie, Borg, Jean-Paul, Weis, William I., Casanova, Jean-Laurent, Puel, Anne, Green, Kathleen J., Bodemer, Christine, Smahi, Asma
Wydane w J Allergy Clin Immunol (2018)

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis

od Thomas, Anna C., Zeng, Zhiqiang, Rivière, Jean-Baptiste, O’Shaughnessy, Ryan, Al-Olabi, Lara, St.-Onge, Judith, Atherton, David J., Aubert, Hélène, Bagazgoitia, Lorea, Barbarot, Sébastien, Bourrat, Emmanuelle, Chiaverini, Christine, Chong, W. Kling, Duffourd, Yannis, Glover, Mary, Groesser, Leopold, Hadj-Rabia, Smail, Hamm, Henning, Happle, Rudolf, Mushtaq, Imran, Lacour, Jean-Philippe, Waelchli, Regula, Wobser, Marion, Vabres, Pierre, Patton, E. Elizabeth, Kinsler, Veronica A.
Wydane w J Invest Dermatol (2016)

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

od Nitschke, Yvonne, Baujat, Geneviève, Botschen, Ulrike, Wittkampf, Tanja, du Moulin, Marcel, Stella, Jacqueline, Le Merrer, Martine, Guest, Geneviève, Lambot, Karen, Tazarourte-Pinturier, Marie-Frederique, Chassaing, Nicolas, Roche, Olivier, Feenstra, Ilse, Loechner, Karen, Deshpande, Charu, Garber, Samuel J., Chikarmane, Rashmi, Steinmann, Beat, Shahinyan, Tatevik, Martorell, Loreto, Davies, Justin, Smith, Wendy E., Kahler, Stephen G., McCulloch, Mignon, Wraige, Elizabeth, Loidi, Lourdes, Höhne, Wolfgang, Martin, Ludovic, Hadj-Rabia, Smaïl, Terkeltaub, Robert, Rutsch, Frank
Wydane 2012

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

od Parker, Victoria E. R., Keppler-Noreuil, Kim M., Faivre, Laurence, Luu, Maxime, Oden, Neal L., De Silva, Leena, Sapp, Julie C., Andrews, Katrina, Bardou, Marc, Chen, Kong Y., Darling, Thomas N., Gautier, Elodie, Goldspiel, Barry R., Hadj-Rabia, Smail, Harris, Julie, Kounidas, Georgios, Kumar, Parag, Lindhurst, Marjorie J., Loffroy, Romaric, Martin, Ludovic, Phan, Alice, Rother, Kristina I., Widemann, Brigitte C., Wolters, Pamela L., Coubes, Christine, Pinson, Lucile, Willems, Marjolaine, Vincent-Delorme, Catherine, Vabres, Pierre, Semple, Robert K., Biesecker, Leslie G.
Wydane w Genet Med (2018)