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

מאת Dufresne, Helene, Hadj-Rabia, Smail, Taïeb, Charles, Bodemer, Christine
יצא לאור 2013

Incontinentia pigmenti burden scale: designing a family burden questionnaire

מאת Taieb, Charles, Hadj-Rabia, Smail, Monnet, Jacques, Bennani, Mohammed, Bodemer, Christine
הוצא לאור ב Orphanet J Rare Dis (2019)

Family burden in inherited ichthyosis: creation of a specific questionnaire

מאת Dufresne, Hélène, Hadj-Rabia, Smail, Méni, Cécile, Sibaud, Vincent, Bodemer, Christine, Taïeb, Charles
יצא לאור 2013

Early management of sight threatening retinopathy in incontinentia pigmenti

מאת Michel, Sarah, Reynaud, Clothilde, Daruich, Alejandra, Hadj-Rabia, Smail, Bremond-Gignac, Dominique, Bodemer, Christine, Robert, Matthieu P.
הוצא לאור ב 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

מאת Greco, Céline, Leclerc-Mercier, Stéphanie, Chaumon, Sarah, Doz, François, Hadj-Rabia, Smail, Molina, Thierry, Boucheix, Claude, Bodemer, Christine
הוצא לאור ב JAMA Dermatol (2020)

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

מאת 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
יצא לאור 2012-09-01

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

מאת 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
יצא לאור 2012

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

מאת 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
הוצא לאור ב Cell Death Dis (2020)

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

מאת 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
יצא לאור 2011

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

מאת 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
הוצא לאור ב J Invest Dermatol (2002)

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

מאת 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
יצא לאור 2013

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

מאת 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
הוצא לאור ב Eur J Hum Genet (2018)

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

מאת 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
יצא לאור 2014

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

מאת 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
הוצא לאור ב J Am Acad Dermatol (2018)

Epithelial barrier dysfunction in desmoglein-1 deficiency

מאת 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
הוצא לאור ב J Allergy Clin Immunol (2018)

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

מאת 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.
הוצא לאור ב J Invest Dermatol (2016)

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

מאת 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
יצא לאור 2012

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

מאת 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.
הוצא לאור ב Genet Med (2018)