CFTR‐France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants
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
Published in Human mutation (01.10.2017)
Published in Human mutation (01.10.2017)
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Long-term treatment of cutaneous manifestations of tuberous sclerosis complex with topical 1% sirolimus cream: A prospective study of 25 patients
Malissen, Nausicaa, MD, Vergely, Laurence, PharmD, Simon, Marguerite, PharmD, Roubertie, Agathe, MD, PhD, Malinge, Marie-Claire, MD, Bessis, Didier, MD
Published in Journal of the American Academy of Dermatology (01.09.2017)
Published in Journal of the American Academy of Dermatology (01.09.2017)
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Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects
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
Published in Annals of clinical and translational neurology (01.10.2023)
Published in Annals of clinical and translational neurology (01.10.2023)
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Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease
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
Published in Annals of neurology (01.04.2007)
Published in Annals of neurology (01.04.2007)
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Exophiala dermatitidis Revealing Cystic Fibrosis in Adult Patients with Chronic Pulmonary Disease
Grenouillet, Frédéric, Cimon, Bernard, Pana-Katatali, Heloise, Person, Christine, Gainet-Brun, Marie, Malinge, Marie-Claire, Le Govic, Yohann, Richaud-Thiriez, Bénédicte, Bouchara, Jean-Philippe
Published in Mycopathologia (1975) (01.02.2018)
Published in Mycopathologia (1975) (01.02.2018)
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A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing
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
Published in Genes (09.02.2022)
Published in Genes (09.02.2022)
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Journal Article
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
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
Published in Human mutation (01.08.2000)
Published in Human mutation (01.08.2000)
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Journal Article
CFTR genotypes in patients with normal or borderline sweat chloride levels
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
Published in Human mutation (01.10.2003)
Published in Human mutation (01.10.2003)
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Molecular characterization of corona radiata cells from patients with diminished ovarian reserve using microarray and microfluidic-based gene expression profiling
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
Published in Human reproduction (Oxford) (01.03.2012)
Published in Human reproduction (Oxford) (01.03.2012)
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Journal Article
Microchimerism from a dizygotic twin in juvenile ulcerative lichen planus
Vabres, Pierre, Malinge, Marie-Claire, Larrègue, Marc, Bonneau, Dominique
Published in The Lancet (British edition) (25.05.2002)
Published in The Lancet (British edition) (25.05.2002)
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Journal Article
French recommendations for the diagnosis and management of lymphangioleiomyomatosis
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
Published in Respiratory medicine and research (01.06.2023)
Published in Respiratory medicine and research (01.06.2023)
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Journal Article
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)
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
Published in Neurogenetics (01.04.2009)
Published in Neurogenetics (01.04.2009)
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Journal Article
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature
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
Published in European journal of human genetics : EJHG (28.05.2024)
Published in European journal of human genetics : EJHG (28.05.2024)
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Journal Article
Correction: Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature
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
Published in European journal of human genetics : EJHG (22.07.2024)
Published in European journal of human genetics : EJHG (22.07.2024)
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Journal Article
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects
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
Published in Human molecular genetics (01.05.2014)
Published in Human molecular genetics (01.05.2014)
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Quantitative determination of the hybrid Bcr-Abl RNA in patients with chronic myelogenous leukaemia under interferon therapy
Malinge, M C, Mahon, F X, Delfau, M H, Daheron, L, Kitzis, A, Guilhot, F, Tanzer, J, Grandchamp, B
Published in British journal of haematology (01.12.1992)
Published in British journal of haematology (01.12.1992)
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Journal Article
Infantile‐onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects
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
Published in Annals of clinical and translational neurology (25.07.2023)
Published in Annals of clinical and translational neurology (25.07.2023)
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Journal Article
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis
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
Published in Human mutation (01.04.2016)
Published in Human mutation (01.04.2016)
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