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

ανά Dufresne, Helene, Hadj-Rabia, Smail, Taïeb, Charles, Bodemer, Christine
Έκδοση 2013

Incontinentia pigmenti burden scale: designing a family burden questionnaire

ανά Taieb, Charles, Hadj-Rabia, Smail, Monnet, Jacques, Bennani, Mohammed, Bodemer, Christine
Τόπος έκδοσης Orphanet J Rare Dis (2019)

Family burden in inherited ichthyosis: creation of a specific questionnaire

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

Early management of sight threatening retinopathy in incontinentia pigmenti

ανά Michel, Sarah, Reynaud, Clothilde, Daruich, Alejandra, Hadj-Rabia, Smail, Bremond-Gignac, Dominique, Bodemer, Christine, Robert, Matthieu P.
Τόπος έκδοσης 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

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

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

ανά 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
Έκδοση 2012-09-01

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

ανά 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
Έκδοση 2012

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

ανά 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
Τόπος έκδοσης Cell Death Dis (2020)

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

ανά 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
Έκδοση 2011

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

ανά 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
Τόπος έκδοσης J Invest Dermatol (2002)

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

ανά 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
Έκδοση 2013

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

ανά 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
Τόπος έκδοσης Eur J Hum Genet (2018)

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

ανά 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
Έκδοση 2014

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

ανά 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
Τόπος έκδοσης J Am Acad Dermatol (2018)

Epithelial barrier dysfunction in desmoglein-1 deficiency

ανά 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
Τόπος έκδοσης J Allergy Clin Immunol (2018)

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

ανά 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.
Τόπος έκδοσης J Invest Dermatol (2016)

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

ανά 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
Έκδοση 2012

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

ανά 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.
Τόπος έκδοσης Genet Med (2018)