Quantification and prediction of water uptake by soot deposited on ventilation filters during fire events

Por Lintis, Laura, Ouf, François-Xavier, Parent, Philippe, Ferry, Daniel, Laffon, Carine, Vallières, Cécile
Publicado no J Hazard Mater (2021)

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Por Del Giudice, Ennio, Macca, Marina, Imperati, Floriana, D’Amico, Alessandra, Parent, Philippe, Pasquier, Laurent, Layet, Valerie, Lyonnet, Stanislas, Stamboul-Darmency, Veronique, Thauvin-Robinet, Christel, Franco, Brunella
Publicado em 2014

Time and space clusters of the French-Canadian MIV phenylketonuria mutation in France

Por Lyonnet, Stanislas, Melle, Dominique, de Braekeleer, Marc, Laframboise, Rachel, Rey, Françoise, John, Simon W. M., Berthelon, Monique, Berthelot, Jacques, Journel, Hubert, Le Marec, Bernard, Parent, Philippe, de Parscau, Loïc, Saudubray, Jean-Marie, Rozen, Rima, Rey, Jean, Munnich, Arnold, Scriver, Charles R.
Publicado em 1992

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

Por Mercier, Sandra, Toutain, Annick, Toussaint, Aurélie, Raynaud, Martine, de Barace, Claire, Marcorelles, Pascale, Pasquier, Laurent, Blayau, Martine, Espil, Caroline, Parent, Philippe, Journel, Hubert, Lazaro, Leila, Andoni Urtizberea, Jon, Moerman, Alexandre, Faivre, Laurence, Eymard, Bruno, Maincent, Kim, Gherardi, Romain, Chaigne, Denys, Ben Yaou, Rabah, Leturcq, France, Chelly, Jamel, Desguerre, Isabelle
Publicado em 2013

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

Por Mercier, Sandra, Toutain, Annick, Toussaint, Aurélie, Raynaud, Martine, de Barace, Claire, Marcorelles, Pascale, Pasquier, Laurent, Blayau, Martine, Pénisson-Besnier, Isabelle, Romero, Norma, Espil, Caroline, Parent, Philippe, Journel, Hubert, Lazaro, Leila, Andoni Urtizberea, Jon, Moerman, Alexandre, Faivre, Laurence, Eymard, Bruno, Maincent, Kim, Gherardi, Romain, Chaigne, Denys, Ben Yaou, Rabah, Leturcq, France, Chelly, Jamel, Desguerre, Isabelle
Publicado em 2013

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Por Jaglin, Xavier Hubert, Poirier, Karine, Saillour, Yoann, Buhler, Emmanuelle, Tian, Guoling, Bahi-Buisson, Nadia, Fallet-Bianco, Catherine, Phan-Dinh-Tuy, Françoise, Kong, Xiang Peng, Bomont, Pascale, Castelnau-Ptakhine, Laëtitia, Odent, Sylvie, Loget, Philippe, Kossorotoff, Manoelle, Snoeck, Irina, Plessis, Ghislaine, Parent, Philippe, Beldjord, Cherif, Cardoso, Carlos, Represa, Alfonso, Flint, Jonathan, Keays, David Anthony, Cowan, Nicholas Justin, Chelly, Jamel
Publicado em 2009

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing

Por Taillandier, Agnès, Domingues, Christelle, De Cazanove, Clémence, Porquet-Bordes, Valérie, Monnot, Sophie, Kiffer-Moreira, Tina, Rothenbuhler, Agnès, Guggenbuhl, Pascal, Cormier, Catherine, Baujat, Geneviève, Debiais, Françoise, Capri, Yline, Cohen-Solal, Martine, Parent, Philippe, Chiesa, Jean, Dieux, Anne, Petit, Florence, Roume, Joelle, Isnard, Monica, Cormier-Daire, Valérie, Linglart, Agnès, Millán, José Luis, Salles, Jean-Pierre, Muti, Christine, Simon-Bouy, Brigitte, Mornet, Etienne
Publicado no Mol Genet Metab (2015)

Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

Por Baala, Lekbir , Audollent, Sophie , Martinovic, Jéléna , Ozilou, Catherine , Babron, Marie-Claude , Sivanandamoorthy, Sivanthiny , Saunier, Sophie , Salomon, Rémi , Gonzales, Marie , Rattenberry, Eleanor , Esculpavit, Chantal , Toutain, Annick , Moraine, Claude , Parent, Philippe , Marcorelles, Pascale , Dauge, Marie-Christine , Roume, Joëlle , Merrer, Martine Le , Meiner, Vardiella , Meir, Karen , Menez, Françoise , Beaufrère, Anne-Marie , Francannet, Christine , Tantau, Julia , Sinico, Martine , Dumez, Yves , MacDonald, Fiona , Munnich, Arnold , Lyonnet, Stanislas , Gubler, Marie-Claire , Génin, Emmanuelle , Johnson, Colin A. , Vekemans, Michel , Encha-Razavi, Férechté , Attié-Bitach, Tania 
Publicado em 2007

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Por Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, SaintPierre, Benjamin, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N’Guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J., Bahi-Buisson, Nadia, Chelly, Jamel
Publicado em 2013

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Por Küry, Sébastien, Besnard, Thomas, Ebstein, Frédéric, Khan, Tahir N., Gambin, Tomasz, Douglas, Jessica, Bacino, Carlos A., Sanders, Stephan J., Lehmann, Andrea, Latypova, Xénia, Khan, Kamal, Pacault, Mathilde, Sacharow, Stephanie, Glaser, Kimberly, Bieth, Eric, Perrin-Sabourin, Laurence, Jacquemont, Marie-Line, Cho, Megan T., Roeder, Elizabeth, Denommé-Pichon, Anne-Sophie, Monaghan, Kristin G., Yuan, Bo, Xia, Fan, Simon, Sylvain, Bonneau, Dominique, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Pasquier, Laurent, Barbouth, Deborah, Shaw, Chad A., Patel, Ankita, Smith, Janice L., Bi, Weimin, Schmitt, Sébastien, Deb, Wallid, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Rooryck, Caroline, Malan, Valérie, Briceño, Ignacio, Gómez, Alberto, Nugent, Kimberly M., Gibson, James B., Cogné, Benjamin, Lupski, James R., Stessman, Holly A.F., Eichler, Evan E., Retterer, Kyle, Yang, Yaping, Redon, Richard, Katsanis, Nicholas, Rosenfeld, Jill A., Kloetzel, Peter-Michael, Golzio, Christelle, Bézieau, Stéphane, Stankiewicz, Paweł, Isidor, Bertrand
Publicado no Am J Hum Genet (2017)

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Por Küry, Sébastien, Besnard, Thomas, Ebstein, Frédéric, Khan, Tahir N., Gambin, Tomasz, Douglas, Jessica, Bacino, Carlos A., Craigen, William J., Sanders, Stephan J., Lehmann, Andrea, Latypova, Xénia, Khan, Kamal, Pacault, Mathilde, Sacharow, Stephanie, Glaser, Kimberly, Bieth, Eric, Perrin-Sabourin, Laurence, Jacquemont, Marie-Line, Cho, Megan T., Roeder, Elizabeth, Denommé-Pichon, Anne-Sophie, Monaghan, Kristin G., Yuan, Bo, Xia, Fan, Simon, Sylvain, Bonneau, Dominique, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Pasquier, Laurent, Barbouth, Deborah, Shaw, Chad A., Patel, Ankita, Smith, Janice L., Bi, Weimin, Schmitt, Sébastien, Deb, Wallid, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Rooryck, Caroline, Malan, Valérie, Briceño, Ignacio, Gómez, Alberto, Nugent, Kimberly M., Gibson, James B., Cogné, Benjamin, Lupski, James R., Stessman, Holly A.F., Eichler, Evan E., Retterer, Kyle, Yang, Yaping, Redon, Richard, Katsanis, Nicholas, Rosenfeld, Jill A., Kloetzel, Peter-Michael, Golzio, Christelle, Bézieau, Stéphane, Stankiewicz, Paweł, Isidor, Bertrand
Publicado no Am J Hum Genet (2017)

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Por Küry, Sébastien, van Woerden, Geeske M., Besnard, Thomas, Proietti Onori, Martina, Latypova, Xénia, Towne, Meghan C., Cho, Megan T., Prescott, Trine E., Ploeg, Melissa A., Sanders, Stephan, Stessman, Holly A.F., Pujol, Aurora, Distel, Ben, Robak, Laurie A., Bernstein, Jonathan A., Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A., Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje W.M., Waugh, Jeff L., Deardorff, Matthew, Hoganson, George E., Bosanko, Katherine B., Johnson, Diana S., Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J., Terhal, Paulien A., Grange, Dorothy K., van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J., Douglas, Jessica, Santani, Avni B., Nesbitt, Addie I., Helbig, Katherine L., Andrews, Marisa V., Begtrup, Amber, Tang, Sha, van Gassen, Koen L.I., Juusola, Jane, Foss, Kimberly, Enns, Gregory M., Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H., Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B., Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia A.L., Hahn, Sihoun, Brownstein, Catherine A., Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R., Thies, Jenny, Peart-Vissers, Lisenka E.L.M., Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M., Dubourg, Christèle, Tan, Wen-Hann, Verbeek, Nienke E., Granzow, Martin, Santen, Gijs W.E., Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W., Kleefstra, Tjitske, Cogné, Benjamin, Petrovski, Slavé, Retterer, Kyle, Eichler, Evan E., Rosenfeld, Jill A., Agrawal, Pankaj B., Bézieau, Stéphane, Odent, Sylvie, Elgersma, Ype, Mercier, Sandra
Publicado no Am J Hum Genet (2017)