New Insight on FGFR3-Related Chondrodysplasias Molecular Physiopathology Revealed by Human Chondrocyte Gene Expression Profiling

Por Schibler, Laurent, Gibbs, Linda, Benoist-Lasselin, Catherine, Decraene, Charles, Martinovic, Jelena, Loget, Philippe, Delezoide, Anne-Lise, Gonzales, Marie, Munnich, Arnold, Jais, Jean-Philippe, Legeai-Mallet, Laurence
Publicado em 2009

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

Por Morcel, Karine, Watrin, Tanguy, Pasquier, Laurent, Rochard, Lucie, Le Caignec, Cédric, Dubourg, Christèle, Loget, Philippe, Paniel, Bernard-Jean, Odent, Sylvie, David, Véronique, Pellerin, Isabelle, Bendavid, Claude, Guerrier, Daniel
Publicado em 2011

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases

Por Mercier, Sandra, Dubourg, Christèle, Garcelon, Nicolas, Campillo-Gimenez, Boris, Gicquel, Isabelle, Belleguic, Marion, Ratié, Leslie, Pasquier, Laurent, Loget, Philippe, Bendavid, Claude, Jaillard, Sylvie, Rochard, Lucie, Quélin, Chloé, Dupé, Valérie, David, Véronique, Odent, Sylvie
Publicado em 2011

Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

Por Madariaga, Leire, Morinière, Vincent, Jeanpierre, Cécile, Bouvier, Raymonde, Loget, Philippe, Martinovic, Jelena, Dechelotte, Pierre, Leporrier, Nathalie, Thauvin-Robinet, Christel, Jensen, Uffe Birk, Gaillard, Dominique, Mathieu, Michele, Turlin, Bruno, Attie-Bitach, Tania, Salomon, Rémi, Gübler, Marie-Claire, Antignac, Corinne, Heidet, Laurence
Publicado em 2013

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

Por Fallet-Bianco, Catherine, Laquerrière, Annie, Poirier, Karine, Razavi, Ferechte, Guimiot, Fabien, Dias, Patricia, Loeuillet, Laurence, Lascelles, Karine, Beldjord, Cherif, Carion, Nathalie, Toussaint, Aurélie, Revencu, Nicole, Addor, Marie-Claude, Lhermitte, Benoit, Gonzales, Marie, Martinovich, Jelena, Bessieres, Bettina, Marcy-Bonnière, Maryse, Jossic, Frédérique, Marcorelles, Pascale, Loget, Philippe, Chelly, Jamel, Bahi-Buisson, Nadia
Publicado no Acta Neuropathol Commun (2014)

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

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

Por Vuillaumier-Barrot, Sandrine, Bouchet-Séraphin, Céline, Chelbi, Malika, Devisme, Louise, Quentin, Samuel, Gazal, Steven, Laquerrière, Annie, Fallet-Bianco, Catherine, Loget, Philippe, Odent, Sylvie, Carles, Dominique, Bazin, Anne, Aziza, Jacqueline, Clemenson, Alix, Guimiot, Fabien, Bonnière, Maryse, Monnot, Sophie, Bole-Feysot, Christine, Bernard, Jean-Pierre, Loeuillet, Laurence, Gonzales, Marie, Socha, Koryna, Grandchamp, Bernard, Attié-Bitach, Tania, Encha-Razavi, Férechté, Seta, Nathalie
Publicado em 2012

Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

Por Karmous-Benailly, Houda, Martinovic, Jelena, Gubler, Marie-Claire, Sirot, Yoann, Clech, Laure, Ozilou, Catherine, Augé, Joëlle, Brahimi, Nora, Etchevers, Heather, Detrait, Eric, Esculpavit, Chantal, Audollent, Sophie, Goudefroye, Géraldine, Gonzales, Marie, Tantau, Julia, Loget, Philippe, Joubert, Madeleine, Gaillard, Dominique, Jeanne-Pasquier, Corinne, Delezoide, Anne-Lise, Peter, Marie-Odile, Plessis, Ghislaine, Simon-Bouy, Brigitte, Dollfus, Hélène, Le Merrer, Martine, Munnich, Arnold, Encha-Razavi, Férechté, Vekemans, Michel, Attié-Bitach, Tania
Publicado em 2005

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

Por Mougou-Zerelli, Soumaya, Thomas, Sophie, Szenker, Emmanuelle, Audollent, Sophie, Elkhartoufi, Nadia, Babarit, Candice, Romano, Stéphane, Salomon, Rémi, Amiel, Jeanne, Esculpavit, Chantal, Gonzales, Marie, Escudier, Estelle, Leheup, Bruno, Loget, Philippe, Odent, Sylvie, Roume, Joëlle, Gérard, Marion, Delezoide, Anne-Lise, Khung, Suonavy, Patrier, Sophie, Cordier, Marie-Pierre, Bouvier, Raymonde, Martinovic, Jéléna, Gubler, Marie-Claire, Boddaert, Nathalie, Munnich, Arnold, Encha-Razavi, Férechté, Valente, Enza Maria, Saad, Ali, Saunier, Sophie, Vekemans, Michel, Attié-Bitach, Tania
Publicado em 2009

Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies

Por Iannicelli, Miriam, Brancati, Francesco, Mougou-Zerelli, Soumaya, Mazzotta, Annalisa, Thomas, Sophie, Elkhartoufi, Nadia, Travaglini, Lorena, Gomes, Céline, Ardissino, Gian Luigi, Bertini, Enrico, Boltshauser, Eugen, Castorina, Pierangela, D'Arrigo, Stefano, Fischetto, Rita, Leroy, Brigitte, Loget, Philippe, Bonnière, Maryse, Starck, Lena, Tantau, Julia, Gentilin, Barbara, Majore, Silvia, Swistun, Dominika, Flori, Elizabeth, Lalatta, Faustina, Pantaleoni, Chiara, Johannes.Penzien, Grammatico, Paola, Dallapiccola, Bruno, Gleeson, Joseph G., Attie-Bitach, Tania, Valente, Enza Maria
Publicado em 2010

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

Por Thauvin-Robinet, Christel, Lee, Jaclyn S., Lopez, Estelle, Herranz-Pérez, Vicente, Shida, Toshinobu, Franco, Brunella, Jego, Laurence, Ye, Fan, Pasquier, Laurent, Loget, Philippe, Gigot, Nadège, Aral, Bernard, Lopes, Carla A.M., St-Onge, Judith, Bruel, Ange-Line, Thevenon, Julien, González-Granero, Susana, Alby, Caroline, Munnich, Arnold, Vekemans, Michel, Huet, Frédéric, Fry, Andrew M., Saunier, Sophie, Rivière, Jean-Baptiste, Attié-Bitach, Tania, Garcia-Verdugo, Jose Manuel, Faivre, Laurence, Mégarbané, André, Nachury, Maxence V.
Publicado em 2014