Lack of Renal 11 Beta-Hydroxysteroid Dehydrogenase Type 2 at Birth, a Targeted Temporal Window for Neonatal Glucocorticoid Action in Human and Mice

Por Martinerie, Laetitia, Pussard, Eric, Meduri, Geri, Delezoide, Anne-Lise, Boileau, Pascal, Lombès, Marc
Publicado em 2012

Parathyroid Hormone Receptor Type 1/Indian Hedgehog Expression Is Preserved in the Growth Plate of Human Fetuses Affected with Fibroblast Growth Factor Receptor Type 3 Activating M...

Por Cormier, Sarah, Delezoide, Anne-Lise, Benoist-Lasselin, Catherine, Legeai-Mallet, Laurence, Bonaventure, Jacky, Silve, Caroline
Publicado em 2002

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

Por Teixeira, Luis, Guimiot, Fabien, Dodé, Catherine, Fallet-Bianco, Catherine, Millar, Robert P., Delezoide, Anne-Lise, Hardelin, Jean-Pierre
Publicado em 2010

Low renal mineralocorticoid receptor expression at birth contributes to partial aldosterone resistance in neonates

Por Martinerie, Laetitia, Viengchareun, Say, Delezoïde, Anne-Lise, Jaubert, Francis, Sinico, Martine, Prevot, Sophie, Boileau, Pascal, Meduri, Géri, Lombès, Marc
Publicado em 2009

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

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Por Dagoneau, Nathalie, Goulet, Marie, Geneviève, David, Sznajer, Yves, Martinovic, Jelena, Smithson, Sarah, Huber, Céline, Baujat, Geneviève, Flori, Elisabeth, Tecco, Laura, Cavalcanti, Denise, Delezoide, Anne-Lise, Serre, Valérie, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie
Publicado em 2009

Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

Por Huber, Céline, Faqeih, Eissa Ali, Bartholdi, Deborah, Bole-Feysot, Christine, Borochowitz, Zvi, Cavalcanti, Denise P., Frigo, Amandine, Nitschke, Patrick, Roume, Joelle, Santos, Heloísa G., Shalev, Stavit A., Superti-Furga, Andrea, Delezoide, Anne-Lise, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie
Publicado em 2013

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry

Por Beaussant Cohen, Sarah, Fenneteau, Odile, Plouvier, Emmanuel, Rohrlich, Pierre-Simon, Daltroff, Gerard, Plantier, Isabelle, Dupuy, Alain, Kerob, Delphine, Beaupain, Blandine, Bordigoni, Pierre, Fouyssac, Fanny, Delezoide, Anne-Lise, Devouassoux, Gilles, Nicolas, Jean François, Bensaid, Philippe, Bertrand, Yves, Balabanian, Karl, Chantelot, Christine Bellanne, Bachelerie, Françoise, Donadieu, Jean
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

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

Por El Khattabi, Laïla, Guimiot, Fabien, Pipiras, Eva, Andrieux, Joris, Baumann, Clarisse, Bouquillon, Sonia, Delezoide, Anne-Lise, Delobel, Bruno, Demurger, Florence, Dessuant, Hélène, Drunat, Séverine, Dubourg, Christelle, Dupont, Céline, Faivre, Laurence, Holder-Espinasse, Muriel, Jaillard, Sylvie, Journel, Hubert, Lyonnet, Stanislas, Malan, Valérie, Masurel, Alice, Marle, Nathalie, Missirian, Chantal, Moerman, Alexandre, Moncla, Anne, Odent, Sylvie, Palumbo, Orazio, Palumbo, Pietro, Ravel, Aimé, Romana, Serge, Tabet, Anne-Claude, Valduga, Mylène, Vermelle, Marie, Carella, Massimo, Dupont, Jean-Michel, Verloes, Alain, Benzacken, Brigitte, Delahaye, Andrée
Publicado no Eur J Hum Genet (2015)

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)

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Por Barat-Houari, Mouna, Dumont, Bruno, Fabre, Aurélie, Them, Frédéric TM, Alembik, Yves, Alessandri, Jean-Luc, Amiel, Jeanne, Audebert, Séverine, Baumann-Morel, Clarisse, Blanchet, Patricia, Bieth, Eric, Brechard, Marie, Busa, Tiffany, Calvas, Patrick, Capri, Yline, Cartault, François, Chassaing, Nicolas, Ciorca, Vidrica, Coubes, Christine, David, Albert, Delezoide, Anne-Lise, Dupin-Deguine, Delphine, El Chehadeh, Salima, Faivre, Laurence, Giuliano, Fabienne, Goldenberg, Alice, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Kaplan, Josseline, Lacombe, Didier, Lebrun, Marine, Marlin, Sandrine, Martin-Coignard, Dominique, Martinovic, Jelena, Masurel, Alice, Melki, Judith, Mozelle-Nivoix, Monique, Nguyen, Karine, Odent, Sylvie, Philip, Nicole, Pinson, Lucile, Plessis, Ghislaine, Quélin, Chloé, Shaeffer, Elise, Sigaudy, Sabine, Thauvin, Christel, Till, Marianne, Touraine, Renaud, Vigneron, Jacqueline, Baujat, Geneviève, Cormier-Daire, Valérie, Le Merrer, Martine, Geneviève, David, Touitou, Isabelle
Publicado no Eur J Hum Genet (2016)