A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia
Słabicki, Mikołaj, Theis, Mirko, Krastev, Dragomir B, Samsonov, Sergey, Mundwiller, Emeline, Junqueira, Magno, Paszkowski-Rogacz, Maciej, Teyra, Joan, Heninger, Anne-Kristin, Poser, Ina, Prieur, Fabienne, Truchetto, Jérémy, Confavreux, Christian, Marelli, Cécilia, Durr, Alexandra, Camdessanche, Jean Philippe, Brice, Alexis, Shevchenko, Andrej, Pisabarro, M Teresa, Stevanin, Giovanni, Buchholz, Frank
Published in PLoS biology (01.06.2010)
Published in PLoS biology (01.06.2010)
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A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels
Abidi, Affef, Devaux, Jérôme J, Molinari, Florence, Alcaraz, Gisèle, Michon, François-Xavier, Sutera-Sardo, Julie, Becq, Hélène, Lacoste, Caroline, Altuzarra, Cécilia, Afenjar, Alexandra, Mignot, Cyril, Doummar, Diane, Isidor, Bertrand, Guyen, Sylvie N, Colin, Estelle, De La Vaissière, Sabine, Haye, Damien, Trauffler, Adeline, Badens, Catherine, Prieur, Fabienne, Lesca, Gaetan, Villard, Laurent, Milh, Mathieu, Aniksztejn, Laurent
Published in Neurobiology of disease (01.08.2015)
Published in Neurobiology of disease (01.08.2015)
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Prognosis factors for survival in fetuses with prenatally diagnosed megacystis
Grimal, Lucile, Raia-Barjat, Tiphaine, Faisant, Marie-Caroline, Coston, Anne-Laure, Riethmuller, Didier, Rabattu, Pierre-Yves, Varlet, Marie-Noëlle, Prieur, Fabienne, Varlet, François, Hoffmann, Pascale, Scalabre, Aurélien
Published in Journal of perinatology (01.05.2022)
Published in Journal of perinatology (01.05.2022)
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A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH
Poirsier, Céline, Besseau-Ayasse, Justine, Schluth-Bolard, Caroline, Toutain, Jérôme, Missirian, Chantal, Le Caignec, Cédric, Bazin, Anne, de Blois, Marie Christine, Kuentz, Paul, Catty, Marie, Choiset, Agnès, Plessis, Ghislaine, Basinko, Audrey, Letard, Pascaline, Flori, Elisabeth, Jimenez, Mélanie, Valduga, Mylène, Landais, Emilie, Lallaoui, Hakima, Cartault, François, Lespinasse, James, Martin-Coignard, Dominique, Callier, Patrick, Pebrel-Richard, Céline, Portnoi, Marie-France, Busa, Tiffany, Receveur, Aline, Amblard, Florence, Yardin, Catherine, Harbuz, Radu, Prieur, Fabienne, Le Meur, Nathalie, Pipiras, Eva, Kleinfinger, Pascale, Vialard, François, Doco-Fenzy, Martine
Published in European journal of human genetics : EJHG (01.06.2016)
Published in European journal of human genetics : EJHG (01.06.2016)
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High-grade childhood intra-parenchymal brain tumor clustering with ATRT and expanding the cancer spectrum related to inherited SMARCE1 truncating variations
Forest, Fabien, Masliah-Planchon, Julien, Berger, Claire, Prieur, Fabienne, Girard, Elodie, Burel-Vandenbos, Fanny, Boutet, Claire, Vassal, François, Bourdeaut, Franck, Godfraind, Catherine
Published in Acta neuropathologica communications (14.02.2022)
Published in Acta neuropathologica communications (14.02.2022)
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MLH1 promoter hypermethylation: are you absolutely sure about the absence of MLH1 germline mutation? About a new case
Kientz, Caroline, Prieur, Fabienne, Clemenson, Alix, Joly, Marie-Odile, Stachowicz, Marie-Laure, Auclair, Jessie, Attignon, Valéry, Schiappa, Renaud, Wang, Qing
Published in Familial cancer (2020)
Published in Familial cancer (2020)
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A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients
Curie, Aurore, Brun, Amandine, Cheylus, Anne, Reboul, Anne, Nazir, Tatjana, Bussy, Gérald, Delange, Karine, Paulignan, Yves, Mercier, Sandra, David, Albert, Marignier, Stéphanie, Merle, Lydie, de Fréminville, Bénédicte, Prieur, Fabienne, Till, Michel, Mortemousque, Isabelle, Toutain, Annick, Bieth, Eric, Touraine, Renaud, Sanlaville, Damien, Chelly, Jamel, Kong, Jian, Ott, Daniel, Kassai, Behrouz, Hadjikhani, Nouchine, Gollub, Randy L, des Portes, Vincent
Published in PloS one (26.02.2016)
Published in PloS one (26.02.2016)
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Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
Cheillan, David, Joncquel-Chevalier Curt, Marie, Briand, Gilbert, Salomons, Gajja S, Mention-Mulliez, Karine, Dobbelaere, Dries, Cuisset, Jean-Marie, Lion-François, Laurence, Portes, Vincent Des, Chabli, Allel, Valayannopoulos, Vassili, Benoist, Jean-François, Pinard, Jean-Marc, Simard, Gilles, Douay, Olivier, Deiva, Kumaran, Afenjar, Alexandra, Héron, Delphine, Rivier, François, Chabrol, Brigitte, Prieur, Fabienne, Cartault, François, Pitelet, Gaëlle, Goldenberg, Alice, Bekri, Soumeya, Gerard, Marion, Delorme, Richard, Tardieu, Marc, Porchet, Nicole, Vianey-Saban, Christine, Vamecq, Joseph
Published in Orphanet journal of rare diseases (13.12.2012)
Published in Orphanet journal of rare diseases (13.12.2012)
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First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia
Da Costa, Lydie, Chanoz‐Poulard, Geneviève, Simansour, Maud, French, Martine, Bouvier, Raymonde, Prieur, Fabienne, Couque, Nathalie, Delezoide, Anne Lise, Leblanc, Thierry, Mohandas, Narla, Touraine, Renaud
Published in American journal of hematology (01.02.2013)
Published in American journal of hematology (01.02.2013)
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Netrin G1 Mutations Are an Uncommon Cause of Atypical Rett Syndrome With or Without Epilepsy
Nectoux, Juliette, PhD, Girard, Benoit, MSc, Bahi-Buisson, Nadia, MD, PhD, Prieur, Fabienne, MD, Afenjar, Alexandra, MD, Rosas-Vargas, Haydee, PhD, Chelly, Jamel, MD, PhD, Bienvenu, Thierry, PhD
Published in Pediatric neurology (01.10.2007)
Published in Pediatric neurology (01.10.2007)
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Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling
Simon-Bouy, Brigitte, Taillandier, Agnès, Fauvert, Delphine, Brun-Heath, Isabelle, Serre, Jean-Louis, Armengod, Carmen G., Bialer, Martin G., Mathieu, Michèle, Cousin, Jacques, Chitayat, David, Liebelt, Jan, Feldman, Barbara, Gérard-Blanluet, Marion, Körtge-Jung, Stefani, King, Cath, Laivuori, Hannele, Le Merrer, Martine, Mehta, Sarju, Jern, Christina, Sharif, Saba, Prieur, Fabienne, Gillessen-Kaesbach, Gabriele, Zankl, Andreas, Mornet, Etienne
Published in Prenatal diagnosis (01.11.2008)
Published in Prenatal diagnosis (01.11.2008)
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Aberrant transcription caused by an intronic non-canonical CDH1 variant
Bouras, Ahmed, Grand-Masson, Chloé, Lefol, Cedrick, Ruano, Eric, Prieur, Fabienne, Wang, Qing
Published in Familial cancer (04.02.2024)
Published in Familial cancer (04.02.2024)
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Hereditary Colorectal Cancer and Polyposis Syndromes Caused by Variants in Uncommon Genes
Bouras, Ahmed, Fabre, Aurélie, Zattara, Hélène, Handallou, Sandrine, Desseigne, Françoise, Kientz, Caroline, Prieur, Fabienne, Peysselon, Magalie, Legrand, Clémentine, Calavas, Laura, Saurin, Jean‐Christophe, Wang, Qing
Published in Genes chromosomes & cancer (01.08.2024)
Published in Genes chromosomes & cancer (01.08.2024)
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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klaus, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanislas, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulus, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Louis, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith
Published in Journal of medical genetics (01.06.2022)
Published in Journal of medical genetics (01.06.2022)
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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
Zufferey, Flore, Sherr, Elliott H, Beckmann, Noam D, Hanson, Ellen, Maillard, Anne M, Hippolyte, Loyse, Macé, Aurélien, Ferrari, Carina, Kutalik, Zoltán, Andrieux, Joris, Aylward, Elizabeth, Barker, Mandy, Bernier, Raphael, Bouquillon, Sonia, Conus, Philippe, Delobel, Bruno, Faucett, W Andrew, Goin-Kochel, Robin P, Grant, Ellen, Harewood, Louise, Hunter, Jill V, Lebon, Sébastien, Ledbetter, David H, Martin, Christa Lese, Männik, Katrin, Martinet, Danielle, Mukherjee, Pratik, Ramocki, Melissa B, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Spiro, John E, Reymond, Alexandre, Beckmann, Jacques S, Chung, Wendy K, Jacquemont, Sébastien
Published in Journal of medical genetics (01.10.2012)
Published in Journal of medical genetics (01.10.2012)
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
Stessman, Holly A.F., Willemsen, Marjolein H., Fenckova, Michaela, Penn, Osnat, Hoischen, Alexander, Xiong, Bo, Wang, Tianyun, Hoekzema, Kendra, Vives, Laura, Vogel, Ida, Brunner, Han G., van der Burgt, Ineke, Ockeloen, Charlotte W., Schuurs-Hoeijmakers, Janneke H., Klein Wassink-Ruiter, Jolien S., Stumpel, Connie, Stevens, Servi J.C., Vles, Hans S., Marcelis, Carlo M., van Bokhoven, Hans, Cantagrel, Vincent, Colleaux, Laurence, Nicouleau, Michael, Lyonnet, Stanislas, Bernier, Raphael A., Gerdts, Jennifer, Coe, Bradley P., Romano, Corrado, Alberti, Antonino, Grillo, Lucia, Scuderi, Carmela, Nordenskjöld, Magnus, Kvarnung, Malin, Guo, Hui, Xia, Kun, Piton, Amélie, Gerard, Bénédicte, Genevieve, David, Delobel, Bruno, Lehalle, Daphne, Perrin, Laurence, Prieur, Fabienne, Thevenon, Julien, Gecz, Jozef, Shaw, Marie, Pfundt, Rolph, Keren, Boris, Jacquette, Aurelia, Schenck, Annette, Eichler, Evan E., Kleefstra, Tjitske
Published in American journal of human genetics (03.03.2016)
Published in American journal of human genetics (03.03.2016)
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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
Schluth-Bolard, Caroline, Diguet, Flavie, Chatron, Nicolas, Rollat-Farnier, Pierre-Antoine, Bardel, Claire, Afenjar, Alexandra, Amblard, Florence, Amiel, Jeanne, Blesson, Sophie, Callier, Patrick, Capri, Yline, Collignon, Patrick, Cordier, Marie-Pierre, Coubes, Christine, Demeer, Benedicte, Chaussenot, Annabelle, Demurger, Florence, Devillard, Françoise, Doco-Fenzy, Martine, Dupont, Céline, Dupont, Jean-Michel, Dupuis-Girod, Sophie, Faivre, Laurence, Gilbert-Dussardier, Brigitte, Guerrot, Anne-Marie, Houlier, Marine, Isidor, Bertrand, Jaillard, Sylvie, Joly-Hélas, Géraldine, Kremer, Valérie, Lacombe, Didier, Le Caignec, Cédric, Lebbar, Aziza, Lebrun, Marine, Lesca, Gaetan, Lespinasse, James, Levy, Jonathan, Malan, Valérie, Mathieu-Dramard, Michele, Masson, Julie, Masurel-Paulet, Alice, Mignot, Cyril, Missirian, Chantal, Morice-Picard, Fanny, Moutton, Sébastien, Nadeau, Gwenaël, Pebrel-Richard, Céline, Odent, Sylvie, Paquis-Flucklinger, Véronique, Pasquier, Laurent, Philip, Nicole, Plutino, Morgane, Pons, Linda, Portnoï, Marie-France, Prieur, Fabienne, Puechberty, Jacques, Putoux, Audrey, Rio, Marlène, Rooryck-Thambo, Caroline, Rossi, Massimiliano, Sarret, Catherine, Satre, Véronique, Siffroi, Jean-Pierre, Till, Marianne, Touraine, Renaud, Toutain, Annick, Toutain, Jérome, Valence, Stéphanie, Verloes, Alain, Whalen, Sandra, Edery, Patrick, Tabet, Anne-Claude, Sanlaville, Damien
Published in Journal of medical genetics (01.08.2019)
Published in Journal of medical genetics (01.08.2019)
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Treacher Collins syndrome: a clinical and molecular study based on a large series of patients
Vincent, Marie, Geneviève, David, Ostertag, Agnès, Marlin, Sandrine, Lacombe, Didier, Martin-Coignard, Dominique, Coubes, Christine, David, Albert, Lyonnet, Stanislas, Vilain, Catheline, Dieux-Coeslier, Anne, Manouvrier, Sylvie, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Layet, Valérie, Naudion, Sophie, Odent, Sylvie, Pasquier, Laurent, Pelras, Sybille, Philip, Nicole, Pierquin, Geneviève, Prieur, Fabienne, Aboussair, Nisrine, Attie-Bitach, Tania, Baujat, Geneviève, Blanchet, Patricia, Blanchet, Catherine, Dollfus, Hélène, Doray, Bérénice, Schaefer, Elise, Edery, Patrick, Giuliano, Fabienne, Goldenberg, Alice, Goizet, Cyril, Guichet, Agnès, Herlin, Christian, Lambert, Laetitia, Leheup, Bruno, Martinovic, Jelena, Mercier, Sandra, Mignot, Cyril, Moutard, Marie-Laure, Perez, Marie-José, Pinson, Lucile, Puechberty, Jacques, Willems, Marjolaine, Randrianaivo, Hanitra, Szaskon, Kateline, Toutain, Annick, Verloes, Alain, Vigneron, Jacqueline, Sanchez, Elodie, Sarda, Pierre, Laplanche, Jean-Louis, Collet, Corinne
Published in Genetics in medicine (01.01.2016)
Published in Genetics in medicine (01.01.2016)
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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
McEntagart, Meriel, Williamson, Kathleen A., Rainger, Jacqueline K., Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L. Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I. Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H., Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A., Elmslie, Frances, FitzPatrick, David R.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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