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

Bằng Dufresne, Helene, Hadj-Rabia, Smail, Taïeb, Charles, Bodemer, Christine
Được phát hành 2013

Incontinentia pigmenti burden scale: designing a family burden questionnaire

Bằng Taieb, Charles, Hadj-Rabia, Smail, Monnet, Jacques, Bennani, Mohammed, Bodemer, Christine
Xuất bản năm Orphanet J Rare Dis (2019)

Family burden in inherited ichthyosis: creation of a specific questionnaire

Bằng Dufresne, Hélène, Hadj-Rabia, Smail, Méni, Cécile, Sibaud, Vincent, Bodemer, Christine, Taïeb, Charles
Được phát hành 2013

Early management of sight threatening retinopathy in incontinentia pigmenti

Bằng Michel, Sarah, Reynaud, Clothilde, Daruich, Alejandra, Hadj-Rabia, Smail, Bremond-Gignac, Dominique, Bodemer, Christine, Robert, Matthieu P.
Xuất bản năm 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

Bằng Greco, Céline, Leclerc-Mercier, Stéphanie, Chaumon, Sarah, Doz, François, Hadj-Rabia, Smail, Molina, Thierry, Boucheix, Claude, Bodemer, Christine
Xuất bản năm JAMA Dermatol (2020)

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

Bằng 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
Được phát hành 2012-09-01

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

Bằng 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
Được phát hành 2012

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

Bằng 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
Xuất bản năm Cell Death Dis (2020)

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

Bằng 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
Được phát hành 2011

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

Bằng 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
Xuất bản năm J Invest Dermatol (2002)

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

Bằng 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
Được phát hành 2013

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

Bằng 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
Xuất bản năm Eur J Hum Genet (2018)

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

Bằng 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
Được phát hành 2014

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

Bằng 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
Xuất bản năm J Am Acad Dermatol (2018)

Epithelial barrier dysfunction in desmoglein-1 deficiency

Bằng 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
Xuất bản năm J Allergy Clin Immunol (2018)

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

Bằng 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.
Xuất bản năm J Invest Dermatol (2016)

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

Bằng 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
Được phát hành 2012

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

Bằng 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.
Xuất bản năm Genet Med (2018)