Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications
Wolfe, Kate, McQuillin, Andrew, Alesi, Viola, Boudry Labis, Elise, Cutajar, Peter, Dallapiccola, Bruno, Dentici, Maria Lisa, Dieux‐Coeslier, Anne, Duban‐Bedu, Benedicte, Duelund Hjortshøj, Tina, Goel, Himanshu, Loddo, Sara, Morrogh, Deborah, Mosca‐Boidron, Anne‐Laure, Novelli, Antonio, Olivier‐Faivre, Laurence, Parker, Jennifer, Parker, Michael J., Patch, Christine, Pelling, Anna L., Smol, Thomas, Tümer, Zeynep, Vanakker, Olivier, van Haeringen, Arie, Vanlerberghe, Clémence, Strydom, Andre, Skuse, David, Bass, Nick
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2018)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2018)
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Journal Article
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway
Dubourg, Christèle, Carré, Wilfrid, Hamdi-Rozé, Houda, Mouden, Charlotte, Roume, Joëlle, Abdelmajid, Benmansour, Amram, Daniel, Baumann, Clarisse, Chassaing, Nicolas, Coubes, Christine, Faivre-Olivier, Laurence, Ginglinger, Emmanuelle, Gonzales, Marie, Levy-Mozziconacci, Annie, Lynch, Sally-Ann, Naudion, Sophie, Pasquier, Laurent, Poidvin, Amélie, Prieur, Fabienne, Sarda, Pierre, Toutain, Annick, Dupé, Valérie, Akloul, Linda, Odent, Sylvie, de Tayrac, Marie, David, Véronique
Published in Human mutation (01.12.2016)
Published in Human mutation (01.12.2016)
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WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
Mignot, Cyril, Lambert, Laetitia, Pasquier, Laurent, Bienvenu, Thierry, Delahaye-Duriez, Andrée, Keren, Boris, Lefranc, Jérémie, Saunier, Aline, Allou, Lila, Roth, Virginie, Valduga, Mylène, Moustaïne, Aissa, Auvin, Stéphane, Barrey, Catherine, Chantot-Bastaraud, Sandra, Lebrun, Nicolas, Moutard, Marie-Laure, Nougues, Marie-Christine, Vermersch, Anne-Isabelle, Héron, Bénédicte, Pipiras, Eva, Héron, Delphine, Olivier-Faivre, Laurence, Guéant, Jean-Louis, Jonveaux, Philippe, Philippe, Christophe
Published in Journal of medical genetics (01.01.2015)
Published in Journal of medical genetics (01.01.2015)
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Journal Article
POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum
Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Murch, Oliver, Irving, Rachel, Lynch, Sally A., Mehta, Sarju G., Carmichael, Jenny, Zonneveld‐Huijssoon, Evelien, Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M., Westphall, Ian T., Hughes, Susan S., Smithson, Sarah, Evans, Julie, Dudding‐Byth, Tracy, Simon, Marleen, Binsbergen, Ellen, Herkert, Johanna C., Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S., Rubboli, Guido, Bayat, Allan
Published in Clinical genetics (01.08.2023)
Published in Clinical genetics (01.08.2023)
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Journal Article
Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age
Sénémaud, Jean, Gaudry, Marine, Jouve, Elisabeth, Blanchard, Arnaud, Milleron, Olivier, Dulac, Yves, Olivier-Faivre, Laurence, Stephan, Dominique, Odent, Sylvie, Lanéelle, Damien, Dupuis-Girod, Sophie, Jondeau, Guillaume, Bal-Theoleyre, Laurence
Published in Journal of clinical medicine (17.04.2023)
Published in Journal of clinical medicine (17.04.2023)
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Diversity of the clinical presentation of the MMR gene biallelic mutations
Bougeard, Gaëlle, Olivier-Faivre, Laurence, Baert-Desurmont, Stéphanie, Tinat, Julie, Martin, Cosette, Bouvignies, Emilie, Vasseur, Stéphanie, Huet, Frédéric, Couillault, Gérard, Vabres, Pierre, Le Pessot, Florence, Chapusot, Caroline, Malka, David, Bressac-de Paillerets, Brigitte, Tosi, Mario, Frebourg, Thierry
Published in Familial cancer (01.03.2014)
Published in Familial cancer (01.03.2014)
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Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome
Bonadona, Valérie, Bonaïti, Bernard, Olschwang, Sylviane, Grandjouan, Sophie, Huiart, Laetitia, Longy, Michel, Guimbaud, Rosine, Buecher, Bruno, Bignon, Yves-Jean, Caron, Olivier, Colas, Chrystelle, Noguès, Catherine, Lejeune-Dumoulin, Sophie, Olivier-Faivre, Laurence, Polycarpe-Osaer, Florence, Nguyen, Tan Dat, Desseigne, Françoise, Saurin, Jean-Christophe, Berthet, Pascaline, Leroux, Dominique, Duffour, Jacqueline, Manouvrier, Sylvie, Frébourg, Thierry, Sobol, Hagay, Lasset, Christine, Bonaïti-Pellié, Catherine, French Cancer Genetics Network, for the
Published in JAMA : the journal of the American Medical Association (08.06.2011)
Published in JAMA : the journal of the American Medical Association (08.06.2011)
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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
Redin, Claire, Gérard, Bénédicte, Lauer, Julia, Herenger, Yvan, Muller, Jean, Quartier, Angélique, Masurel-Paulet, Alice, Willems, Marjolaine, Lesca, Gaétan, El-Chehadeh, Salima, Le Gras, Stéphanie, Vicaire, Serge, Philipps, Muriel, Dumas, Michaël, Geoffroy, Véronique, Feger, Claire, Haumesser, Nicolas, Alembik, Yves, Barth, Magalie, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Doray, Bérénice, Delrue, Marie-Ange, Drouin-Garraud, Valérie, Flori, Elisabeth, Fradin, Mélanie, Francannet, Christine, Goldenberg, Alice, Lumbroso, Serge, Mathieu-Dramard, Michèle, Martin-Coignard, Dominique, Lacombe, Didier, Morin, Gilles, Polge, Anne, Sukno, Sylvie, Thauvin-Robinet, Christel, Thevenon, Julien, Doco-Fenzy, Martine, Genevieve, David, Sarda, Pierre, Edery, Patrick, Isidor, Bertrand, Jost, Bernard, Olivier-Faivre, Laurence, Mandel, Jean-Louis, Piton, Amélie
Published in Journal of medical genetics (01.11.2014)
Published in Journal of medical genetics (01.11.2014)
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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
Kuentz, Paul, St-Onge, Judith, Duffourd, Yannis, Courcet, Jean-Benoît, Carmignac, Virginie, Jouan, Thibaud, Sorlin, Arthur, Abasq-Thomas, Claire, Albuisson, Juliette, Amiel, Jeanne, Amram, Daniel, Arpin, Stéphanie, Attie-Bitach, Tania, Bahi-Buisson, Nadia, Barbarot, Sébastien, Baujat, Geneviève, Bessis, Didier, Boccara, Olivia, Bonnière, Maryse, Boute, Odile, Bursztejn, Anne-Claire, Chiaverini, Christine, Cormier-Daire, Valérie, Coubes, Christine, Delobel, Bruno, Edery, Patrick, Chehadeh, Salima El, Francannet, Christine, Geneviève, David, Goldenberg, Alice, Haye, Damien, Isidor, Bertrand, Jacquemont, Marie-Line, Khau Van Kien, Philippe, Lacombe, Didier, Martin, Ludovic, Martinovic, Jelena, Maruani, Annabel, Mathieu-Dramard, Michèle, Mazereeuw-Hautier, Juliette, Michot, Caroline, Mignot, Cyril, Miquel, Juliette, Morice-Picard, Fanny, Petit, Florence, Phan, Alice, Rossi, Massimiliano, Touraine, Renaud, Verloes, Alain, Vincent, Marie, Vincent-Delorme, Catherine, Whalen, Sandra, Willems, Marjolaine, Marle, Nathalie, Lehalle, Daphné, Thevenon, Julien, Thauvin-Robinet, Christel, Hadj-Rabia, Smaïl, Faivre, Laurence, Vabres, Pierre, Rivière, Jean-Baptiste
Published in Genetics in medicine (01.09.2017)
Published in Genetics in medicine (01.09.2017)
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Exome sequencing in the etiologic assessment of the stroke of the young
Mania-Pâris, Loraine, Thomas, Quentin, Vitobello, Antonio, Mau-Them, Frédéric Tran, Duffourd, Yannis, Graber, Mathilde, Hervieu-Begue, Marie, Osseby, Guy Victor, Mohr, Sophie, Labarre, Christelle Blanc, Nambot, Sophie, Bruel, Ange-Line, Denomme-Pichon, Anne-Sophie, Thauvin-Robinet, Christel, Olivier-Faivre, Laurence, Bejot, Yannick
Published in Journal of the neurological sciences (01.12.2023)
Published in Journal of the neurological sciences (01.12.2023)
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Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors
Lhussiez, Vincent, Dubus, Elisabeth, Cesar, Quénol, Acar, Niyazi, Nandrot, Emeline F, Simonutti, Manuel, Audo, Isabelle, Lizé, Eléonore, Nguyen, Sylvie, Geissler, Audrey, Bouchot, André, Ansar, Muhammad, Picaud, Serge, Thauvin-Robinet, Christel, Olivier-Faivre, Laurence, Duplomb, Laurence, Da Costa, Romain
Published in Investigative ophthalmology & visual science (01.09.2020)
Published in Investigative ophthalmology & visual science (01.09.2020)
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How Many Patients Have Congenital Neutropenia? a Population-Based Estimation from the Nationwide French Severe Chronic Neutropenia Registry
Donadieu, Jean, Beaupain, Blandine, Lapillonne, Hélène, Fenneteau, Odile, Sicre de Fontbrune, Flore, Bertrand, Yves, Aladjidi, Nathalie, Barlogis, Vincent, Abou Chahla, Wadih, Lamy, Thierry, Moignet Autrel, Aline, Fieschi, Claire, Leblanc, Thierry, Moshous, Despina, Soulier, Jean, cohen Beaussant, Sarah, Delhommeau, Francois, Cavé, Helene, Paillard, Catherine, Gouache, Elodie, bou Mitri, Fares, Bonnet, Damien, Olivier Faivre, Laurence, Labrune, Philippe, Pasquet, Marlène, Gandemer, Virginie, Mahlaoui, Nizar, Balabanian, Karl, Bachelerie, Francoise, Bellanne-Chantelot, Christine
Published in Blood (05.11.2020)
Published in Blood (05.11.2020)
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Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis
Sorlin, Arthur, Maruani, Annabel, Aubriot-Lorton, Marie-Hélène, Kuentz, Paul, Duffourd, Yannis, Teysseire, Sandra, Carmignac, Virginie, St-Onge, Judith, Chevarin, Martin, Jouan, Thibaud, Thauvin-Robinet, Christel, Thevenon, Julien, Faivre, Laurence, Rivière, Jean-Baptiste, Vabres, Pierre
Published in Journal of investigative dermatology (01.07.2017)
Published in Journal of investigative dermatology (01.07.2017)
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First prenatal PI3K-AKT-mTOR pathway related overgrowth spectrum cohort: Phenotypic and molecular characterization
Bourgon, Nicolas, Kuentz, Paul, Carmignac, Virginie, Sorlin, Arthur, Duffourd, Yannis, Chevarin, Martin, Jouan, Thibaud, Thauvin, Christel, Vabres, Pierre, Olivier-Faivre, Laurence
Published in European journal of obstetrics & gynecology and reproductive biology (01.03.2019)
Published in European journal of obstetrics & gynecology and reproductive biology (01.03.2019)
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Journal Article
Arterial Disease Beyond The Aorta and Vascular Risk Assessment in Marfan Syndrome
Senemaud, Jean, Gaudry, Marine, Blanchard, Arnaud, Milleron, Olivier, Dulac, Yves, Olivier-Faivre, Laurence, Stephan, Dominique, Odent, Sylvie, Lanéelle, Damien, Dupuis-Girod, Sophie, Jondeau, Guillaume, Bal, Laurence
Published in AORTA (01.06.2022)
Published in AORTA (01.06.2022)
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Conference Proceeding
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
Heide, Solveig, MD, Keren, Boris, MD, PhD, Billette de Villemeur, Thierry, MD, PhD, Chantot-Bastaraud, Sandra, MD, Depienne, Christel, PhD, Nava, Caroline, MD, PhD, Mignot, Cyril, MD, PhD, Jacquette, Aurélia, MD, Fonteneau, Eric, Lejeune, Elodie, Mach, Corinne, Marey, Isabelle, MD, Whalen, Sandra, MD, Lacombe, Didier, MD, PhD, Naudion, Sophie, MD, Rooryck, Caroline, MD, PhD, Toutain, Annick, MD, PhD, Caignec, Cédric Le, MD, PhD, Haye, Damien, MD, Olivier-Faivre, Laurence, MD, PhD, Masurel-Paulet, Alice, MD, Thauvin-Robinet, Christel, MD, PhD, Lesne, Fabien, CRA, Faudet, Anne, CRA, Ville, Dorothée, MD, des Portes, Vincent, MD, PhD, Sanlaville, Damien, MD, PhD, Siffroi, Jean-Pierre, MD, PhD, Moutard, Marie-Laure, MD, Héron, Delphine, MD
Published in The Journal of pediatrics (01.06.2017)
Published in The Journal of pediatrics (01.06.2017)
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Journal Article
Effect of chemoprevention by low-dose aspirin of new or recurrent colorectal adenomas in patients with Lynch syndrome (AAS-Lynch): study protocol for a multicenter, double-blind, placebo-controlled randomized controlled trial
Soualy, Adil, Deutsch, David, Benallaoua, Mourad, Ait-Omar, Amal, Mary, Florence, Helfen, Sabine, Boubaya, Marouane, Levy, Vincent, Benamouzig, Robert, Aït Omar, Amal, Al-Khafaji, Semaher, Demare, Noémie, Perkins, Géraldine, Laurent-Puig, Pierre, Saurin, Jean-Christophe, Raby, Naouele, Venat-Bouvet, Laurence, Penaud, Corinne, Bonnet, Delphine, Sicart, Virginie, Pomes, Chloé, Lecomte, Thierry, Jollivet, Claire, Caulet, Morgane, Chaussade, Stanislas, Dhooge, Marion, Maksimovic, Fanny, Grandval, Philippe, Olschwang, Sylvie, Saussereau, Maud, Bellanger, Jérôme, Netter-Coti, Anne, Delhomelle, Hélène, Buecher, Bruno, Mehdi, Lydia, Lejeune, Sophie, Brahimi, Afane, Cattan, Stéphane, Bellengier, Laurence, Tougeron, David, Rafert, Sandrine, Barouk Simonet, Emmanuelle, Cornelis, François, Serova-Erard, Anna, Malka, David, Gesta, Paul, Oddoz, Jeanne, Mari, Véronique, Lesourd, Samuel, Kergoat, Gaëlle, Crivelli, Louise, Sobhani, Iradj, Amiot, Aurélien, Lepage, Côme, Faivre-Olivier, Laurence, Jouve, Jean-Louis, Drouillard, Antoine, Perot, Nora, Bardou, Marc, Nambot, Sophie, Mekahli, Nadia, Lortholary, Alain, Lenne, Carole, Lagasse, Jean-Paul, Ouahrani, Brahim, Frebourg, Thierry, Parodi, Nathalie, Branchaud, Maud, Desseigne, Françoise, Grinand, Elodie, Ingster, Olivier, Semelin, Benoit, Fein, Francine, Lourenco, Nelson, Aparicio, Thomas, Brasseur, Mathilde, Lopez, Anthony
Published in Current controlled trials in cardiovascular medicine (04.09.2020)
Published in Current controlled trials in cardiovascular medicine (04.09.2020)
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Journal Article
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway: HUMAN MUTATION
Dubourg, Christèle, Carré, Wilfrid, Hamdi-Rozé, Houda, Mouden, Charlotte, Roume, Joëlle, Abdelmajid, Benmansour, Amram, Daniel, Baumann, Clarisse, Chassaing, Nicolas, Coubes, Christine, Faivre-Olivier, Laurence, Ginglinger, Emmanuelle, Gonzales, Marie, Levy-Mozziconacci, Annie, Lynch, Sally-Ann, Naudion, Sophie, Pasquier, Laurent, Poidvin, Amélie, Prieur, Fabienne, Sarda, Pierre, Toutain, Annick, Dupé, Valérie, Akloul, Linda, Odent, Sylvie, de Tayrac, Marie, David, Véronique
Published in Human mutation (01.12.2016)
Published in Human mutation (01.12.2016)
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Journal Article
Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome
Detaint, Delphine, Aegerter, Philippe, Tubach, Florence, Hoffman, Isabelle, Plauchu, Henri, Dulac, Yves, Faivre, Laurence Olivier, Delrue, Marie-Ange, Collignon, Patrick, Odent, Sylvie, Tchitchinadze, Maria, Bouffard, Catherine, Arnoult, Florence, Gautier, Mathieu, Boileau, Catherine, Jondeau, Guillaume
Published in Archives of cardiovascular diseases (01.05.2010)
Published in Archives of cardiovascular diseases (01.05.2010)
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Journal Article