Limb overgrowth associated with a mosaic TSC2 second‐hit in tuberous sclerosis complex von Tessarech, Marine, Malinge, Marie‐Claire, Carmignac, Virginie, Vabres, Pierre, Petit, Florence

Volltext

CFTR‐France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants von Claustres, Mireille, Thèze, Corinne, des Georges, Marie, Baux, David, Girodon, Emmanuelle, Bienvenu, Thierry, Audrezet, Marie‐Pierre, Dugueperoux, Ingrid, Férec, Claude, Lalau, Guy, Pagin, Adrien, Kitzis, Alain, Thoreau, Vincent, Gaston, Véronique, Bieth, Eric, Malinge, Marie‐Claire, Reboul, Marie‐Pierre, Fergelot, Patricia, Lemonnier, Lydie, Mekki, Chadia, Fanen, Pascale, Bergougnoux, Anne, Sasorith, Souphatta, Raynal, Caroline, Bareil, Corinne

Volltext

Long-term treatment of cutaneous manifestations of tuberous sclerosis complex with topical 1% sirolimus cream: A prospective study of 25 patients von Malissen, Nausicaa, MD, Vergely, Laurence, PharmD, Simon, Marguerite, PharmD, Roubertie, Agathe, MD, PhD, Malinge, Marie-Claire, MD, Bessis, Didier, MD

Volltext

Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects von Baide-Mairena, Heidy, Coget, Arthur, Leboucq, Nicolas, Procaccio, Vincent, Blanluet, Maud, Meyer, Pierre, Malinge, Marie-Claire, François-Heude, Marie-Céline, Moreno, Mathis, Geneviève, David, Marelli, Cecilia, Roubertie, Agathe

Volltext

A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing von Benquey, Thibaut, Pion, Emmanuelle, Cossée, Mireille, Krahn, Martin, Stojkovic, Tanya, Perrin, Aurélien, Cerino, Mathieu, Molon, Annamaria, Lia, Anne-Sophie, Magdelaine, Corinne, Francou, Bruno, Guiochon-Mantel, Anne, Malinge, Marie-Claire, Leguern, Eric, Lévy, Nicolas, Attarian, Shahram, Latour, Philippe, Bonello-Palot, Nathalie

Volltext

Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease von Loiseau, Dominique, Chevrollier, Arnaud, Verny, Christophe, Guillet, Virginie, Gueguen, Naïg, Pou De Crescenzo, Marie-Anne, Ferré, Marc, Malinge, Marie-Claire, Guichet, Agnès, Nicolas, Guillaume, Amati-Bonneau, Patrizia, Malthièry, Yves, Bonneau, Dominique, Reynier, Pascal

Volltext

Exophiala dermatitidis Revealing Cystic Fibrosis in Adult Patients with Chronic Pulmonary Disease von Grenouillet, Frédéric, Cimon, Bernard, Pana-Katatali, Heloise, Person, Christine, Gainet-Brun, Marie, Malinge, Marie-Claire, Le Govic, Yohann, Richaud-Thiriez, Bénédicte, Bouchara, Jean-Philippe

Volltext

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France von Claustres, Mireille, Guittard, Caroline, Bozon, Dominique, Chevalier, Françoise, Verlingue, Claudine, Ferec, Claude, Girodon, Emanuelle, Cazeneuve, Cécile, Bienvenu, Thierry, Lalau, Guy, Dumur, Viviane, Feldmann, Delphine, Bieth, Eric, Blayau, Martine, Clavel, Christine, Creveaux, Isabelle, Malinge, Marie-Claire, Monnier, Nicole, Malzac, Perrine, Mittre, Hervé, Chomel, Jean-Claude, Bonnefont, Jean-Paul, Iron, Albert, Chery, Michèle, Georges, Marie Des

Volltext

CFTR genotypes in patients with normal or borderline sweat chloride levels von Feldmann, Delphine, Couderc, Remy, Audrezet, Marie-Pierre, Ferec, Claude, Bienvenu, Thierry, Desgeorges, Marie, Claustres, Mireille, Mittre, Hervé, Blayau, Martine, Bozon, Dominique, Malinge, Marie-Claire, Monnier, Nicole, Bonnefont, Jean-Paul, Iron, Albert, Bieth, Eric, Dumur, Viviane, Clavel, Christine, Cazeneuve, Cécile, Girodon, Emmanuelle

Volltext

Molecular characterization of corona radiata cells from patients with diminished ovarian reserve using microarray and microfluidic-based gene expression profiling von May-Panloup, Pascale, Ferré-L'Hôtellier, Véronique, Morinière, Catherine, Marcaillou, Charles, Lemerle, Sophie, Malinge, Marie-Claire, Coutolleau, Anne, Lucas, Nicolas, Reynier, Pascal, Descamps, Philippe, Guardiola, Philippe

Volltext

French recommendations for the diagnosis and management of lymphangioleiomyomatosis von Cottin, Vincent, Blanchard, Elodie, Kerjouan, Mallorie, Lazor, Romain, Reynaud-Gaubert, Martine, Taille, Camille, Uzunhan, Yurdagül, Wemeau, Lidwine, Andrejak, Claire, Baud, Dany, Bonniaud, Philippe, Brillet, Pierre-Yves, Calender, Alain, Chalabreysse, Lara, Court-Fortune, Isabelle, Desbaillets, Nicolas Pierre, Ferretti, Gilbert, Guillemot, Anne, Hardelin, Laurane, Kambouchner, Marianne, Leclerc, Violette, Lederlin, Mathieu, Malinge, Marie-Claire, Mancel, Alain, Marchand-Adam, Sylvain, Maury, Jean-Michel, Naccache, Jean-Marc, Nasser, Mouhamad, Nunes, Hilario, Pagnoux, Gaële, Prévot, Grégoire, Rousset-Jablonski, Christine, Rouviere, Olivier, Si-Mohamed, Salim, Touraine, Renaud, Traclet, Julie, Turquier, Ségolène, Vagnarelli, Stéphane, Ahmad, Kaïs

Volltext

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K) von Cassereau, Julien, Chevrollier, Arnaud, Gueguen, Naïg, Malinge, Marie-Claire, Letournel, Franck, Nicolas, Guillaume, Richard, Laurence, Ferre, Marc, Verny, Christophe, Dubas, Frédéric, Procaccio, Vincent, Amati-Bonneau, Patrizia, Bonneau, Dominique, Reynier, Pascal

Volltext

Microchimerism from a dizygotic twin in juvenile ulcerative lichen planus von Vabres, Pierre, Malinge, Marie-Claire, Larrègue, Marc, Bonneau, Dominique

Volltext

Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature von Milon, Vincent, Malinge, Marie-Claire, Blanluet, Maud, Tessarech, Marine, Battault, Clarisse, Prestwich, Sarah, Vary, Béatrice, Gueracher, Pierre, Legoff, Louis, Barth, Magalie, Houdayer, Clara, Guichet, Agnès, Rousseau, Audrey, Bonneau, Dominique, Procaccio, Vincent, Bris, Céline, Colin, Estelle

Volltext

Correction: Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature von Milon, Vincent, Malinge, Marie-Claire, Blanluet, Maud, Tessarech, Marine, Battault, Clarisse, Prestwich, Sarah, Vary, Béatrice, Gueracher, Pierre, Legoff, Louis, Barth, Magalie, Houdayer, Clara, Guichet, Agnès, Rousseau, Audrey, Bonneau, Dominique, Procaccio, Vincent, Bris, Céline, Colin, Estelle

Volltext

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects von Laquérriere, Annie, Maluenda, Jérome, Camus, Adrien, Fontenas, Laura, Dieterich, Klaus, Nolent, Flora, Zhou, Jié, Monnier, Nicole, Latour, Philippe, Gentil, Damien, Héron, Delphine, Desguerres, Isabelle, Landrieu, Pierre, Beneteau, Claire, Delaporte, Benoit, Bellesme, Céline, Baumann, Clarisse, Capri, Yline, Goldenberg, Alice, Lyonnet, Stanislas, Bonneau, Dominique, Estournet, Brigitte, Quijano-Roy, Susana, Francannet, Christine, Odent, Sylvie, Saint-Frison, Marie-Hélène, Sigaudy, Sabine, Figarella-Branger, Dominique, Gelot, Antoinette, Mussini, Jean-Marie, Lacroix, Catherine, Drouin-Garraud, Valerie, Malinge, Marie-Claire, Attié-Bitach, Tania, Bessieres, Bettina, Bonniere, Maryse, Encha-Razavi, Ferechte, Beaufrère, Anne-Marie, Khung-Savatovsky, Suonary, Perez, Marie José, Vasiljevic, Alexandre, Mercier, Sandra, Roume, Joelle, Trestard, Laetitia, Saugier-Veber, Pascale, Cordier, Marie-Pierre, Layet, Valérie, Legendre, Marine, Vigouroux-Castera, Adeline, Lunardi, Joel, Bayes, Monica, Jouk, Pierre S, Rigonnot, Luc, Granier, Michèle, Sternberg, Damien, Warszawski, Josiane, Gut, Ivo, Gonzales, Marie, Tawk, Marcel, Melki, Judith

Volltext

SIMULTANEOUS MFN2 AND GDAP1 MUTATIONS CAUSE MAJOR MITOCHONDRIAL DEFECTS IN A PATIENT WITH CMT von CASSEREAU, J, CASASNOVAS, C, PROCACCIO, V, CHEVROLLIER, A, GUEGUEN, N, MALINGE, M.-C, GUILLET, V, REYNIER, P, BONNEAU, D, AMATI-BONNEAU, P, BANCHS, I, VOLPINI, V

Volltext

Infantile‐onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects von Baide-Mairena, Heidy, Coget, Arthur, Leboucq, Nicolas, Procaccio, Vincent, Blanluet, Maud, Meyer, Pierre, Malinge, Marie‐claire, François-Heude, Marie‐céline, Moreno, Mathis, Geneviève, David, Marelli, Cecilia, Roubertie, Agathe

Volltext

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis von Ekong, Rosemary, Nellist, Mark, Hoogeveen-Westerveld, Marianne, Wentink, Marjolein, Panzer, Jessica, Sparagana, Steven, Emmett, Warren, Dawson, Natalie L., Malinge, Marie Claire, Nabbout, Rima, Carbonara, Caterina, Barberis, Marco, Padovan, Sergio, Futema, Marta, Plagnol, Vincent, Humphries, Steve E., Migone, Nicola, Povey, Sue

Volltext

Pure bulbar motor neuron involvement linked to an abnormal CAG repeat expansion in the androgen receptor gene von Praline, Julien, Guennoc, Anne-Marie, Malinge, Marie-Claire, de Toffol, Bertrand, Corcia, Philippe

Volltext