Efficacy and safety of intravenous bevacizumab on severe bleeding associated with hemorrhagic hereditary telangiectasia: A national, randomized multicenter trial
Dupuis‐Girod, Sophie, Rivière, Sophie, Lavigne, Christian, Fargeton, Anne‐Emmanuelle, Gilbert‐Dussardier, Brigitte, Grobost, Vincent, Leguy‐Seguin, Vanessa, Maillard, Hélène, Mohamed, Shirine, Decullier, Evelyne, Roux, Adeline, Bernard, Lorraine, Saurin, Jean‐Christophe, Saroul, Nicolas, Faure, Frédéric, Cartier, Cesar, Altwegg, Romain, Laccourreye, Laurent, Oberti, Frédéric, Beaudoin, Marjolaine, Dhelens, Carole, Desvignes, Céline, Azzopardi, Nicolas, Paintaud, Gilles, Hermann, Ruben, Chinet, Thierry
Published in Journal of internal medicine (01.12.2023)
Published in Journal of internal medicine (01.12.2023)
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12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A
Niclass, Tanguy, Le Guyader, Gwenael, Beneteau, Claire, Joubert, Madeleine, Pizzuti, Antonio, Giuffrida, Maria Grazia, Bernardini, Laura, Gilbert‐Dussardier, Brigitte, Bilan, Frederic, Egloff, Matthieu
Published in American journal of medical genetics. Part A (01.09.2020)
Published in American journal of medical genetics. Part A (01.09.2020)
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Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes
Mary, Laura, Chennen, Kirsley, Stoetzel, Corinne, Antin, Manuela, Leuvrey, Anne, Nourisson, Elsa, Alanio‐Detton, Elisabeth, Antal, Maria C., Attié‐Bitach, Tania, Bouvagnet, Patrice, Bouvier, Raymonde, Buenerd, Annie, Clémenson, Alix, Devisme, Louise, Gasser, Bernard, Gilbert‐Dussardier, Brigitte, Guimiot, Fabien, Khau Van Kien, Philippe, Leroy, Brigitte, Loget, Philippe, Martinovic, Jelena, Pelluard, Fanny, Perez, Marie‐Josée, Petit, Florence, Pinson, Lucile, Rooryck‐Thambo, Caroline, Poch, Olivier, Dollfus, Hélène, Schaefer, Elise, Muller, Jean
Published in Clinical genetics (01.03.2019)
Published in Clinical genetics (01.03.2019)
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A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature
Couloigner, Loïc, Planes, Marc, Ka, Chandran, Audebert‐Bellanger, Séverine, Redon, Sylvia, Benech, Caroline, Rouault, Karen, Küry, Sebastien, Peudenier, Sylviane, Autret, Sandrine, Gourlaouen, Isabelle, Bonneau, Dominique, Odent, Sylvie, Bézieau, Stéphane, Gilbert‐Dussardier, Brigitte, Toutain, Annick, Boland, Anne, Deleuze, Jean‐François, Le Marechal, Cédric, Le Gac, Gérald, Ferec, Claude, Uguen, Kevin
Published in Clinical genetics (01.03.2023)
Published in Clinical genetics (01.03.2023)
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A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett‐like phenotype
Vuillaume, Marie‐Laure, Jeanne, Médéric, Xue, Li, Blesson, Sophie, Denommé‐Pichon, Anne‐Sophie, Alirol, Servane, Brulard, Céline, Colin, Estelle, Isidor, Bertrand, Gilbert‐Dussardier, Brigitte, Odent, Sylvie, Parent, Philippe, Donnart, Audrey, Redon, Richard, Bézieau, Stéphane, Rondard, Philippe, Laumonnier, Frédéric, Toutain, Annick
Published in Annals of neurology (01.02.2018)
Published in Annals of neurology (01.02.2018)
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Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females
Depienne, Christel, Trouillard, Oriane, Bouteiller, Delphine, Gourfinkel-An, Isabelle, Poirier, Karine, Rivier, François, Berquin, Patrick, Nabbout, Rima, Chaigne, Denys, Steschenko, Dominique, Gautier, Agnès, Hoffman-Zacharska, Dorota, Lannuzel, Annie, Lackmy-Port-Lis, Marilyn, Maurey, Hélène, Dusser, Anne, Bru, Marie, Gilbert-Dussardier, Brigitte, Roubertie, Agathe, Kaminska, Anna, Whalen, Sandra, Mignot, Cyril, Baulac, Stéphanie, Lesca, Gaetan, Arzimanoglou, Alexis, LeGuern, Eric
Published in Human mutation (01.01.2011)
Published in Human mutation (01.01.2011)
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Absent CNKSR2 causes seizures and intellectual, attention, and language deficits
Vaags, Andrea K., Bowdin, Sarah, Smith, Mary-Lou, Gilbert-Dussardier, Brigitte, Brocke-Holmefjord, Katja S., Sinopoli, Katia, Gilles, Cindy, Haaland, Tove B., Vincent-Delorme, Catherine, Lagrue, Emmanuelle, Harbuz, Radu, Walker, Susan, Marshall, Christian R., Houge, Gunnar, Kalscheuer, Vera M., Scherer, Stephen W., Minassian, Berge A.
Published in Annals of neurology (01.11.2014)
Published in Annals of neurology (01.11.2014)
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Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly
Uguen, Kévin, Krysiak, Kilannin, Audebert‐Bellanger, Séverine, Redon, Sylvia, Benech, Caroline, Viora‐Dupont, Eléonore, Tran Mau‐Them, Frederic, Rondeau, Sophie, Elsharkawi, Ibrahim, Granadillo, Jorge L., Neidich, Julie, Soares, Celia Azevedo, Tkachenko, Natáliya, M. Amudhavalli, Shivarajan, Engleman, Kendra, Boland, Anne, Deleuze, Jean‐François, Bezieau, Stéphane, Odent, Sylvie, Toutain, Annick, Bonneau, Dominique, Gilbert‐Dussardier, Brigitte, Faivre, Laurence, Rio, Marlène, Le Marechal, Cedric, Ferec, Claude, Repnikova, Elena, Cao, Yang
Published in Clinical genetics (01.10.2021)
Published in Clinical genetics (01.10.2021)
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Twenty‐four‐hour ambulatory ECG monitoring relevancy in myotonic dystrophy type 1 follow‐up: Prognostic value and heart rate variability evolution
Gamet, Alexandre, Degand, Bruno, Le Gal, François, Bidegain, Nicolas, Delaubier, Anne, Gilbert‐Dussardier, Brigitte, Christiaens, Luc, Garcia, Rodrigue
Published in Annals of noninvasive electrocardiology (01.01.2019)
Published in Annals of noninvasive electrocardiology (01.01.2019)
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The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD
Richard, Anne Claire, Rovelet-Lecrux, Anne, Delaby, Elsa, Charbonnier, Camille, Thiruvahindrapuram, Bhooma, Hatchwell, Eli, Eis, Peggy S., Afenjar, Alexandra, Gilbert Dussardier, Brigitte, Scherer, Stephen W., Betancur, Catalina, Campion, Dominique
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2016)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2016)
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Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
Lupiáñez, Darío G., Kraft, Katerina, Heinrich, Verena, Krawitz, Peter, Brancati, Francesco, Klopocki, Eva, Horn, Denise, Kayserili, Hülya, Opitz, John M., Laxova, Renata, Santos-Simarro, Fernando, Gilbert-Dussardier, Brigitte, Wittler, Lars, Borschiwer, Marina, Haas, Stefan A., Osterwalder, Marco, Franke, Martin, Timmermann, Bernd, Hecht, Jochen, Spielmann, Malte, Visel, Axel, Mundlos, Stefan
Published in Cell (21.05.2015)
Published in Cell (21.05.2015)
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NBEA: Developmental disease gene with early generalized epilepsy phenotypes
Mulhern, Maureen S., Stumpel, Constance, Stong, Nicholas, Brunner, Han G., Bier, Louise, Lippa, Natalie, Riviello, James, Rouhl, Rob P. W., Kempers, Marlies, Pfundt, Rolph, Stegmann, Alexander P. A., Kukolich, Mary K., Telegrafi, Aida, Lehman, Anna, Lopez‐Rangel, Elena, Houcinat, Nada, Barth, Magalie, den Hollander, Nicolette, Hoffer, Mariette J. V., Weckhuysen, Sarah, Roovers, Jolien, Djemie, Tania, Barca, Diana, Ceulemans, Berten, Craiu, Dana, Lemke, Johannes R., Korff, Christian, Mefford, Heather C., Meyers, Candace T., Siegler, Zsuzsanna, Hiatt, Susan M., Cooper, Gregory M., Bebin, E. Martina, Snijders Blok, Lot, Veenstra‐Knol, Hermine E., Baugh, Evan H., Brilstra, Eva H., Volker‐Touw, Catharina M. L., van Binsbergen, Ellen, Revah‐Politi, Anya, Pereira, Elaine, McBrian, Danielle, Pacault, Mathilde, Isidor, Bertrand, Le Caignec, Cedric, Gilbert‐Dussardier, Brigitte, Bilan, Frederic, Heinzen, Erin L., Goldstein, David B., Stevens, Servi J. C., Sands, Tristan T.
Published in Annals of neurology (01.11.2018)
Published in Annals of neurology (01.11.2018)
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Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome
Busa, Tiffany, Legendre, Marine, Bauge, Marie, Quarello, Edwin, Bretelle, Florence, Bilan, Frederic, Sigaudy, Sabine, Gilbert-Dussardier, Brigitte, Philip, Nicole
Published in Prenatal diagnosis (01.06.2016)
Published in Prenatal diagnosis (01.06.2016)
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Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
Marttila, Minttu, Lehtokari, Vilma-Lotta, Marston, Steven, Nyman, Tuula A., Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, Özge, Cintas, Pascal, Gerard, Marion, Gilbert-Dussardier, Brigitte, Hogue, Jacob S., Longman, Cheryl, Eymard, Bruno, Frydman, Moshe, Kang, Peter B., Klinge, Lars, Kolski, Hanna, Lochmüller, Hans, Magy, Laurent, Manel, Véronique, Mayer, Michèle, Mercuri, Eugenio, North, Kathryn N., Peudenier-Robert, Sylviane, Pihko, Helena, Probst, Frank J., Reisin, Ricardo, Stewart, Willie, Taratuto, Ana Lia, de Visser, Marianne, Wilichowski, Ekkehard, Winer, John, Nowak, Kristen, Laing, Nigel G., Winder, Tom L., Monnier, Nicole, Clarke, Nigel F., Pelin, Katarina, Grönholm, Mikaela, Wallgren-Pettersson, Carina
Published in Human mutation (01.07.2014)
Published in Human mutation (01.07.2014)
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Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT
Le, Thi Thao Truc, Martinent, Guillaume, Dupuis-Girod, Sophie, Parrot, Antoine, Contis, Anne, Riviere, Sophie, Chinet, Thierry, Grobost, Vincent, Espitia, Olivier, Dussardier-Gilbert, Brigitte, Alric, Laurent, Armengol, Guillaume, Maillard, Hélène, Leguy-Seguin, Vanessa, Leroy, Sylvie, Rondeau-Lutz, Murielle, Lavigne, Christian, Mohamed, Shirine, Chaussavoine, Laurent, Magro, Pascal, Seguier, Julie, Kerjouan, Mallorie, Fourdrinoy, Sylvie
Published in Orphanet journal of rare diseases (19.07.2022)
Published in Orphanet journal of rare diseases (19.07.2022)
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Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1
Mansour-Hendili, Lamisse, Blanchard, Anne, Le Pottier, Nelly, Roncelin, Isabelle, Lourdel, Stéphane, Treard, Cyrielle, González, Wendy, Vergara-Jaque, Ariela, Morin, Gilles, Colin, Estelle, Holder-Espinasse, Muriel, Bacchetta, Justine, Baudouin, Véronique, Benoit, Stéphane, Bérard, Etienne, Bourdat-Michel, Guylhène, Bouchireb, Karim, Burtey, Stéphane, Cailliez, Mathilde, Cardon, Gérard, Cartery, Claire, Champion, Gerard, Chauveau, Dominique, Cochat, Pierre, Dahan, Karin, De la Faille, Renaud, Debray, François-Guillaume, Dehoux, Laurenne, Deschenes, Georges, Desport, Estelle, Devuyst, Olivier, Dieguez, Stella, Emma, Francesco, Fischbach, Michel, Fouque, Denis, Fourcade, Jacques, François, Hélène, Gilbert-Dussardier, Brigitte, Hannedouche, Thierry, Houillier, Pascal, Izzedine, Hassan, Janner, Marco, Karras, Alexandre, Knebelmann, Bertrand, Lavocat, Marie-Pierre, Lemoine, Sandrine, Leroy, Valérie, Loirat, Chantal, Macher, Marie-Alice, Martin-Coignard, Dominique, Morin, Denis, Niaudet, Patrick, Nivet, Hubert, Nobili, François, Novo, Robert, Faivre, Laurence, Rigothier, Claire, Roussey-Kesler, Gwenaëlle, Salomon, Remi, Schleich, Andreas, Sellier-Leclerc, Anne-Laure, Soulami, Kenza, Tiple, Aurélien, Ulinski, Tim, Vanhille, Philippe, Van Regemorter, Nicole, Jeunemaître, Xavier, Vargas-Poussou, Rosa
Published in Human mutation (01.08.2015)
Published in Human mutation (01.08.2015)
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Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD)
Hyon, Capucine, Chantot-Bastaraud, Sandra, Harbuz, Radu, Bhouri, Rakia, Perrot, Nicolas, Peycelon, Matthieu, Sibony, Mathilde, Rojo, Sandra, Piguel, Xavier, Bilan, Frederic, Gilbert-Dussardier, Brigitte, Kitzis, Alain, McElreavey, Ken, Siffroi, Jean-Pierre, Bashamboo, Anu
Published in American journal of medical genetics. Part A (01.08.2015)
Published in American journal of medical genetics. Part A (01.08.2015)
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The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A
Mansard, Luke, Baux, David, Vaché, Christel, Blanchet, Catherine, Meunier, Isabelle, Willems, Marjolaine, Faugère, Valérie, Baudoin, Corinne, Moclyn, Melody, Bianchi, Julie, Dollfus, Helene, Gilbert-Dussardier, Brigitte, Dupin-Deguine, Delphine, Bonneau, Dominique, Drumare, Isabelle, Odent, Sylvie, Zanlonghi, Xavier, Claustres, Mireille, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne-Françoise
Published in International journal of molecular sciences (10.12.2021)
Published in International journal of molecular sciences (10.12.2021)
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Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Küry, Sébastien, Zhang, Jinwei, Besnard, Thomas, Caro-Llopis, Alfonso, Zeng, Xue, Robert, Stephanie M, Josiah, Sunday S, Kiziltug, Emre, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Kundishora, Adam J, Hao, Le T, Li, Hong, Stevenson, Roger E, Louie, Raymond J, Deb, Wallid, Torti, Erin, Vignard, Virginie, McWalter, Kirsty, Raymond, F Lucy, Rajabi, Farrah, Ranza, Emmanuelle, Grozeva, Detelina, Coury, Stephanie A, Blanc, Xavier, Brischoux-Boucher, Elise, Keren, Boris, Õunap, Katrin, Reinson, Karit, Ilves, Pilvi, Wentzensen, Ingrid M, Barr, Eileen E, Guihard, Solveig Heide, Charles, Perrine, Seaby, Eleanor G, Monaghan, Kristin G, Rio, Marlène, van Bever, Yolande, van Slegtenhorst, Marjon, Chung, Wendy K, Wilson, Ashley, Quinquis, Delphine, Bréhéret, Flora, Retterer, Kyle, Lindenbaum, Pierre, Scalais, Emmanuel, Rhodes, Lindsay, Stouffs, Katrien, Pereira, Elaine M, Berger, Sara M, Milla, Sarah S, Jaykumar, Ankita B, Cobb, Melanie H, Panchagnula, Shreyas, Duy, Phan Q, Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill A, Friez, Michael J, Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E, Schwartz, Charles E, Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T, Isidor, Bertrand
Published in Genetics in medicine (01.09.2022)
Published in Genetics in medicine (01.09.2022)
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Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine
Heddar, Abdelkader, Ogur, Cagri, Da Costa, Sabrina, Braham, Inès, Billaud-Rist, Line, Findikli, Necati, Beneteau, Claire, Reynaud, Rachel, Mahmoud, Khaled, Legrand, Stéphanie, Marchand, Maud, Cedrin-Durnerin, Isabelle, Cantalloube, Adèle, Peigne, Maeliss, Bretault, Marion, Dagher-Hayeck, Benedicte, Perol, Sandrine, Droumaguet, Celine, Cavkaytar, Sabri, Nicolas-Bonne, Carole, Elloumi, Hanen, Khrouf, Mohamed, Rougier-LeMasle, Charlotte, Fradin, Melanie, Le Boette, Elsa, Luigi, Perrine, Guerrot, Anne-Marie, Ginglinger, Emmanuelle, Zampa, Amandine, Fauconnier, Anais, Auger, Nathalie, Paris, Françoise, Brischoux-Boucher, Elise, Cabrol, Christelle, Brun, Aurore, Guyon, Laura, Berard, Melanie, Riviere, Axelle, Gruchy, Nicolas, Odent, Sylvie, Gilbert-Dussardier, Brigitte, Isidor, Bertrand, Piard, Juliette, Lambert, Laetitia, Hamamah, Samir, Guedj, Anne Marie, Brac de la Perriere, Aude, Fernandez, Hervé, Raffin-Sanson, Marie-Laure, Polak, Michel, Letur, Hélène, Epelboin, Sylvie, Plu-Bureau, Genevieve, Wołczyński, Sławomir, Hieronimus, Sylvie, Aittomaki, Kristiina, Catteau-Jonard, Sophie, Misrahi, Micheline
Published in EBioMedicine (01.10.2022)
Published in EBioMedicine (01.10.2022)
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