Twin-to-Twin Transfusion Syndrome : Role of the Fetal Renin-Angiotensin System

Por Mahieu-Caputo, Dominique, Dommergues, Marc, Delezoide, Anne-Lise, Lacoste, Mireille, Cai, Yi, Narcy, Françoise, Jolly, Dominique, Gonzales, Marie, Dumez, Yves, Gubler, Marie-Claire
Publicado em 2000

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

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

Por Maluenda, Jérôme, Manso, Constance, Quevarec, Loic, Vivanti, Alexandre, Marguet, Florent, Gonzales, Marie, Guimiot, Fabien, Petit, Florence, Toutain, Annick, Whalen, Sandra, Grigorescu, Romulus, Coeslier, Anne Dieux, Gut, Marta, Gut, Ivo, Laquerrière, Annie, Devaux, Jérôme, Melki, Judith
Publicado no Am J Hum Genet (2016)

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)

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

Por Heidet, Laurence, Morinière, Vincent, Henry, Charline, De Tomasi, Lara, Reilly, Madeline Louise, Humbert, Camille, Alibeu, Olivier, Fourrage, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Tores, Frédéric, Bras, Marc, Jeanpierre, Marc, Pietrement, Christine, Gaillard, Dominique, Gonzales, Marie, Novo, Robert, Schaefer, Elise, Roume, Joëlle, Martinovic, Jelena, Malan, Valérie, Salomon, Rémi, Saunier, Sophie, Antignac, Corinne, Jeanpierre, Cécile
Publicado no J Am Soc Nephrol (2017)

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

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita

Por Xue, Shifeng, Maluenda, Jérôme, Marguet, Florent, Shboul, Mohammad, Quevarec, Loïc, Bonnard, Carine, Ng, Alvin Yu Jin, Tohari, Sumanty, Tan, Thong Teck, Kong, Mung Kei, Monaghan, Kristin G., Cho, Megan T., Siskind, Carly E., Sampson, Jacinda B., Rocha, Carolina Tesi, Alkazaleh, Fawaz, Gonzales, Marie, Rigonnot, Luc, Whalen, Sandra, Gut, Marta, Gut, Ivo, Bucourt, Martine, Venkatesh, Byrappa, Laquerrière, Annie, Reversade, Bruno, Melki, Judith
Publicado no Am J Hum Genet (2017)

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

Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

Por Eggermann, Thomas, Brioude, Frédéric, Russo, Silvia, Lombardi, Maria P, Bliek, Jet, Maher, Eamonn R, Larizza, Lidia, Prawitt, Dirk, Netchine, Irène, Gonzales, Marie, Grønskov, Karen, Tümer, Zeynep, Monk, David, Mannens, Marcel, Chrzanowska, Krystyna, Walasek, Malgorzata K, Begemann, Matthias, Soellner, Lukas, Eggermann, Katja, Tenorio, Jair, Nevado, Julián, Moore, Gudrun E, Mackay, Deborah JG, Temple, Karen, Gillessen-Kaesbach, Gabriele, Ogata, Tsutomu, Weksberg, Rosanna, Algar, Elizabeth, Lapunzina, Pablo
Publicado no Eur J Hum Genet (2016)

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

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

Por De Tomasi, Lara, David, Pierre, Humbert, Camille, Silbermann, Flora, Arrondel, Christelle, Tores, Frédéric, Fouquet, Stéphane, Desgrange, Audrey, Niel, Olivier, Bole-Feysot, Christine, Nitschké, Patrick, Roume, Joëlle, Cordier, Marie-Pierre, Pietrement, Christine, Isidor, Bertrand, Khau Van Kien, Philippe, Gonzales, Marie, Saint-Frison, Marie-Hélène, Martinovic, Jelena, Novo, Robert, Piard, Juliette, Cabrol, Christelle, Verma, Ishwar C., Puri, Ratna, Journel, Hubert, Aziza, Jacqueline, Gavard, Laurent, Said-Menthon, Marie-Hélène, Heidet, Laurence, Saunier, Sophie, Jeanpierre, Cécile
Publicado no Am J Hum Genet (2017)

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

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Por Putoux, Audrey, Thomas, Sophie, Coene, Karlien L M, Davis, Erica E, Alanay, Yasemin, Ogur, Gönül, Uz, Elif, Buzas, Daniela, Gomes, Céline, Patrier, Sophie, Bennett, Christopher L, Elkhartoufi, Nadia, Frison, Marie-Hélène Saint, Rigonnot, Luc, Joyé, Nicole, Pruvost, Solenn, Utine, Gulen Eda, Boduroglu, Koray, Nitschke, Patrick, Fertitta, Laura, Thauvin-Robinet, Christel, Munnich, Arnold, Cormier-Daire, Valérie, Hennekam, Raoul, Colin, Estelle, Akarsu, Nurten Ayse, Bole-Feysot, Christine, Cagnard, Nicolas, Schmitt, Alain, Goudin, Nicolas, Lyonnet, Stanislas, Encha-Razavi, Férechté, Siffroi, Jean-Pierre, Winey, Mark, Katsanis, Nicholas, Gonzales, Marie, Vekemans, Michel, Beales, Philip L, Attié-Bitach, Tania
Publicado em 2011

New insights into genotype–phenotype correlation for GLI3 mutations

Por Démurger, Florence, Ichkou, Amale, Mougou-Zerelli, Soumaya, Le Merrer, Martine, Goudefroye, Géraldine, Delezoide, Anne-Lise, Quélin, Chloé, Manouvrier, Sylvie, Baujat, Geneviève, Fradin, Mélanie, Pasquier, Laurent, Megarbané, André, Faivre, Laurence, Baumann, Clarisse, Nampoothiri, Sheela, Roume, Joëlle, Isidor, Bertrand, Lacombe, Didier, Delrue, Marie-Ange, Mercier, Sandra, Philip, Nicole, Schaefer, Elise, Holder, Muriel, Krause, Amanda, Laffargue, Fanny, Sinico, Martine, Amram, Daniel, André, Gwenaelle, Liquier, Alain, Rossi, Massimiliano, Amiel, Jeanne, Giuliano, Fabienne, Boute, Odile, Dieux-Coeslier, Anne, Jacquemont, Marie-Line, Afenjar, Alexandra, Van Maldergem, Lionel, Lackmy-Port-Lis, Marylin, Vincent- Delorme, Catherine, Chauvet, Marie-Liesse, Cormier-Daire, Valérie, Devisme, Louise, Geneviève, David, Munnich, Arnold, Viot, Géraldine, Raoul, Odile, Romana, Serge, Gonzales, Marie, Encha-Razavi, Ferechte, Odent, Sylvie, Vekemans, Michel, Attie-Bitach, Tania
Publicado no Eur J Hum Genet (2015)