Rezultati pretrage - Piton, Amélie

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing od Piton, Amélie, Redin, Claire, Mandel, Jean-Louis

Preuzmi cijeli tekst Preuzmi cijeli tekst

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing od Piton, Amélie, Redin, Claire, Mandel, Jean-Louis

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability od Weil, Dominique, Piton, Amélie, Lessel, Davor, Standart, Nancy

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

Analysis of the effects of rare variants on splicing identifies alterations in GABA(A) receptor genes in autism spectrum disorder individuals od Piton, Amélie, Jouan, Loubna, Rochefort, Daniel, Dobrzeniecka, Sylvia, Lachapelle, Karine, Dion, Patrick A, Gauthier, Julie, Rouleau, Guy A

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

VaRank: a simple and powerful tool for ranking genetic variants od Geoffroy, Véronique, Pizot, Cécile, Redin, Claire, Piton, Amélie, Vasli, Nasim, Stoetzel, Corinne, Blavier, André, Laporte, Jocelyn, Muller, Jean

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia od Wirth, Thomas, Méneret, Aurélie, Drouot, Nathalie, Rudolf, Gabrielle, Lagha Boukbiza, Ouhaid, Chelly, Jamel, Tranchant, Christine, Piton, Amélie, Roze, Emmanuel, Anheim, Mathieu

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth od Corradi, Anna, Fadda, Manuela, Piton, Amélie, Patry, Lysanne, Marte, Antonella, Rossi, Pia, Cadieux-Dion, Maxime, Gauthier, Julie, Lapointe, Line, Mottron, Laurent, Valtorta, Flavia, Rouleau, Guy A., Fassio, Anna, Benfenati, Fabio, Cossette, Patrick

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis od Mattioli, Francesca, Schaefer, Elise, Magee, Alex, Mark, Paul, Mancini, Grazia M., Dieterich, Klaus, Von Allmen, Gretchen, Alders, Marielle, Coutton, Charles, van Slegtenhorst, Marjon, Vieville, Gaëlle, Engelen, Mark, Cobben, Jan Maarten, Juusola, Jane, Pujol, Aurora, Mandel, Jean-Louis, Piton, Amélie

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus od Blanchet, Patricia, Bebin, Martina, Bruet, Shaam, Cooper, Gregory M., Thompson, Michelle L., Duban-Bedu, Benedicte, Gerard, Benedicte, Piton, Amelie, Suckno, Sylvie, Deshpande, Charu, Clowes, Virginia, Vogt, Julie, Turnpenny, Peter, Williamson, Michael P., Alembik, Yves, Glasgow, Eric, McNeill, Alisdair

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

Sex-specific impact of prenatal androgens on social brain default mode subsystems od Lombardo, Michael V., Auyeung, Bonnie, Pramparo, Tiziano, Quartier, Angélique, Courraud, Jérémie, Holt, Rosemary J., Waldman, Jack, Ruigrok, Amber N. V., Mooney, Natasha, Bethlehem, Richard A. I., Lai, Meng-Chuan, Kundu, Prantik, Bullmore, Edward T., Mandel, Jean-Louis, Piton, Amélie, Baron-Cohen, Simon

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment od Hamdan, Fadi F., Daoud, Hussein, Rochefort, Daniel, Piton, Amélie, Gauthier, Julie, Langlois, Mathieu, Foomani, Gila, Dobrzeniecka, Sylvia, Krebs, Marie-Odile, Joober, Ridha, Lafrenière, Ronald G., Lacaille, Jean-Claude, Mottron, Laurent, Drapeau, Pierre, Beauchamp, Miriam H., Phillips, Michael S., Fombonne, Eric, Rouleau, Guy A., Michaud, Jacques L.

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing od Myers, Rachel A., Casals, Ferran, Gauthier, Julie, Hamdan, Fadi F., Keebler, Jon, Boyko, Adam R., Bustamante, Carlos D., Piton, Amelie M., Spiegelman, Dan, Henrion, Edouard, Zilversmit, Martine, Hussin, Julie, Quinlan, Jacklyn, Yang, Yan, Lafrenière, Ronald G., Griffing, Alexander R., Stone, Eric A., Rouleau, Guy A., Awadalla, Philip

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition od Piton, Amélie, Poquet, Hélène, Redin, Claire, Masurel, Alice, Lauer, Julia, Muller, Jean, Thevenon, Julien, Herenger, Yvan, Chancenotte, Sophie, Bonnet, Marlène, Pinoit, Jean-Michel, Huet, Frédéric, Thauvin-Robinet, Christel, Jaeger, Anne-Sophie, Le Gras, Stéphanie, Jost, Bernard, Gérard, Bénédicte, Peoc'h, Katell, Launay, Jean-Marie, Faivre, Laurence, Mandel, Jean-Louis

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability od Montagne, Louise, Derhourhi, Mehdi, Piton, Amélie, Toussaint, Bénédicte, Durand, Emmanuelle, Vaillant, Emmanuel, Thuillier, Dorothée, Gaget, Stefan, De Graeve, Franck, Rabearivelo, Iandry, Lansiaux, Amélie, Lenne, Bruno, Sukno, Sylvie, Desailloud, Rachel, Cnop, Miriam, Nicolescu, Ramona, Cohen, Lior, Zagury, Jean-François, Amouyal, Mélanie, Weill, Jacques, Muller, Jean, Sand, Olivier, Delobel, Bruno, Froguel, Philippe, Bonnefond, Amélie

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy od Kannan, Meghna, Bayam, Efil, Wagner, Christel, Rinaldi, Bruno, Kretz, Perrine F., Tilly, Peggy, Roos, Marna, McGillewie, Lara, Bär, Séverine, Minocha, Shilpi, Chevalier, Claire, Po, Chrystelle, Chelly, Jamel, Mandel, Jean-Louis, Borgatti, Renato, Piton, Amélie, Kinnear, Craig, Loos, Ben, Adams, David J., Hérault, Yann, Collins, Stephan C., Friant, Sylvie, Godin, Juliette D., Yalcin, Binnaz

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis od Mary, Laura, Piton, Amélie, Schaefer, Elise, Mattioli, Francesca, Nourisson, Elsa, Feger, Claire, Redin, Claire, Barth, Magali, El Chehadeh, Salima, Colin, Estelle, Coubes, Christine, Faivre, Laurence, Flori, Elisabeth, Geneviève, David, Capri, Yline, Perrin, Laurence, Fabre-Teste, Jennifer, Timbolschi, Dana, Verloes, Alain, Olaso, Robert, Boland, Anne, Deleuze, Jean-François, Mandel, Jean-Louis, Gerard, Bénédicte, Giurgea, Irina

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome od Chater-Diehl, Eric, Ejaz, Resham, Cytrynbaum, Cheryl, Siu, Michelle T., Turinsky, Andrei, Choufani, Sanaa, Goodman, Sarah J., Abdul-Rahman, Omar, Bedford, Melanie, Dorrani, Naghmeh, Engleman, Kendra, Flores-Daboub, Josue, Genevieve, David, Mendoza-Londono, Roberto, Meschino, Wendy, Perrin, Laurence, Safina, Nicole, Townshend, Sharron, Scherer, Stephen W., Anagnostou, Evdokia, Piton, Amelie, Deardorff, Matthew, Brudno, Michael, Chitayat, David, Weksberg, Rosanna

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder od Mattioli, Francesca, Hayot, Gaelle, Drouot, Nathalie, Isidor, Bertrand, Courraud, Jérémie, Hinckelmann, Maria-Victoria, Mau-Them, Frederic Tran, Sellier, Chantal, Goldman, Alica, Telegrafi, Aida, Boughton, Alicia, Gamble, Candace, Moutton, Sebastien, Quartier, Angélique, Jean, Nolwenn, Van Ness, Paul, Grotto, Sarah, Nambot, Sophie, Douglas, Ganka, Si, Yue Cindy, Chelly, Jamel, Shad, Zohra, Kaplan, Elisabeth, Dineen, Richard, Golzio, Christelle, Charlet-Berguerand, Nicolas, Mandel, Jean-Louis, Piton, Amélie

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency od Saunier, Chloé, Støve, Svein Isungset, Popp, Bernt, Gérard, Bénédicte, Blenski, Marina, AhMew, Nicholas, de Bie, Charlotte, Goldenberg, Paula, Isidor, Bertrand, Keren, Boris, Leheup, Bruno, Lampert, Laetitia, Mignot, Cyril, Tezcan, Kamer, Mancini, Grazia M.S., Nava, Caroline, Wasserstein, Melissa, Bruel, Ange‐Line, Thevenon, Julien, Masurel, Alice, Duffourd, Yannis, Kuentz, Paul, Huet, Frédéric, Rivière, Jean‐Baptiste, van Slegtenhorst, Marjon, Faivre, Laurence, Piton, Amélie, Reis, André, Arnesen, Thomas, Thauvin‐Robinet, Christel, Zweier, Christiane

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome od Quartier, Angélique, Poquet, Hélène, Gilbert-Dussardier, Brigitte, Rossi, Massimiliano, Casteleyn, Anne-Sophie, Portes, Vincent des, Feger, Claire, Nourisson, Elsa, Kuentz, Paul, Redin, Claire, Thevenon, Julien, Mosca-Boidron, Anne-Laure, Callier, Patrick, Muller, Jean, Lesca, Gaetan, Huet, Frédéric, Geoffroy, Véronique, El Chehadeh, Salima, Jung, Matthieu, Trojak, Benoit, Le Gras, Stéphanie, Lehalle, Daphné, Jost, Bernard, Maury, Stéphanie, Masurel, Alice, Edery, Patrick, Thauvin-Robinet, Christel, Gérard, Bénédicte, Mandel, Jean-Louis, Faivre, Laurence, Piton, Amélie

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst