Resultats de la cerca - Dominique Gaillard
- Mostrar 1 - 20 resultats de 20
-
1
-
2
-
3
-
4
Selective Up-Regulation of Chemokine IL-8 Expression in Cystic Fibrosis Bronchial Gland Cells in Vivo and in Vitro per Olivier Tabary, Jean Marie Zahm, Jocelyne Hinnrasky, Jean Paul Couetil, Pascale Cornillet, Moncef Guenounou, Dominique Gaillard, Édith Puchelle, Jacky Jacquot
Publicat 1998Artigo -
5
Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes per Leire Madariaga, Vincent Morinière, Marc Jeanpierre, Raymonde Bouvier, Philippe Loget, Jéléna Martinovic, Pierre Déchelotte, Nathalie Leporrier, Christel Thauvin-Robinet, Uffe Birk Jensen, Dominique Gaillard, Michèle Mathieu, Bruno Turlin, Tania Attié‐Bitach, Rémi Salomon, Marie‐Claire Gubler, Corinne Antignac, Laurence Heidet
Publicat 2013Artigo -
6
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects per Marc Jeanpierre, G. Macé, Mélanie Parisot, Vincent Morinière, A. Pawtowsky, Max E. Benabou, Jéléna Martinovic, Jeanne Amiel, Tania Attié‐Bitach, Anne‐Lise Delezoide, Philippe Loget, Patricia Blanchet, Dominique Gaillard, M. Gonzalés, Wassila Carpentier, Patrick Nitschké, Frédéric Torès, Laurence Heidet, Corinne Antignac, Rémi Salomon
Publicat 2011Artigo -
7
The Succinate Dehydrogenase Genetic Testing in a Large Prospective Series of Patients with Paragangliomas per Nelly Burnichon, V. Rohmer, Laurence Amar, Philippe Herman, Sophie Leboulleux, Vincent Darrouzet, Patricia Niccoli, Dominique Gaillard, G. Chabrier, Frédéric Chabolle, Isabelle Coupier, P Thiéblot, Pierre Lecomte, Jérôme Bertherat, N. Wion-Barbot, Arnaud Murat, Annabelle Vénisse, Pierre‐François Plouin, Xavier Jeunemaı̂tre, Anne‐Paule Gimenez‐Roqueplo
Publicat 2009Artigo -
8
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone per Chunmei Li, Victor L. Jensen, Kwangjin Park, Julie Kennedy, Francesc R. García-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean‐Baptiste Rivière, Laurence Faivre, Christel Thauvin‐Robinet, Jeremy F. Reiter, Oliver E. Blacque, Enza Maria Valente, Michel R. Leroux
Publicat 2016Artigo -
9
Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita per Gianina Ravenscroft, Flora Nolent, Sulekha Rajagopalan, Ana M. Meireles, Kevin J. Paavola, Dominique Gaillard, Elisabeth Alanio, Michael E. Buckland, Susan Arbuckle, Michael Krivanek, Jérôme Maluenda, S. Pannell, Rebecca Gooding, Royston Ong, Richard J. N. Allcock, Ellaine Dóris Fernandes Carvalho, Maria D.F. Carvalho, Fernando Kok, William S. Talbot, Judith Melki, Nigel G. Laing
Publicat 2015Artigo -
10
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes per Martine Doco‐Fenzy, Camille Leroy, Anouck Schneider, Florence Petit, Marie‐Ange Delrue, Joris Andrieux, Laurence Perrin‐Sabourin, Emilie Landais, Azzedine Aboura, Jacques Puechberty, Manon Girard, Magali Tournaire, Elodie Sanchez, Caroline Rooryck, Agnès Ameil, Michel Goossens, Philippe Jonveaux, Geneviève Lefort, Laurence Taine, Dorothée Cailley, Dominique Gaillard, Bruno Leheup, Pierre Sarda, David Geneviève
Publicat 2013Artigo -
11
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract per Laurence Heidet, Vincent Morinière, C. Henry, Lara De Tomasi, Madeline Louise Reilly, Camille Humbert, Olivier Alibeu, Cécile Fourrage, Christine Bôle‐Feysot, Patrick Nitschké, Frédéric Torès, Marc Bras, Marc Jeanpierre, Christine Piétrement, Dominique Gaillard, Marie Gonzalès, Robert Novo, Élise Schaefer, J. Roume, Jéléna Martinovic, Valérie Malan, Rémi Salomon, Sophie Saunier, Corinne Antignac, Marc Jeanpierre
Publicat 2017Artigo -
12
TCTN3 Mutations Cause Mohr-Majewski Syndrome per Sophie Thomas, Marine Legendre, Sophie Saunier, Bettina Bessières, Caroline Alby, Maryse Bonnière, Annick Toutain, Laurence Lœuillet, Katarzyna Szymańska, Frédérique Jossic, Dominique Gaillard, Mohamed Tahar Yacoubi, Soumaya Mougou-Zerelli, Albert David, Marie-Anne Barthez, Y. Ville, Christine Bôle‐Feysot, Patrick Nitschké, Stanislas Lyonnet, Arnold Münnich, Colin A. Johnson, Férechté Encha‐Razavi, Valérie Cormier‐Daire, Christel Thauvin‐Robinet, Michel Vekemans, Tania Attié‐Bitach
Publicat 2012Artigo -
13
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients per Camille Leroy, Emilie Landais, Sylvain Briault, Albert David, Olivier Tassy, Nicolas Gruchy, Bruno Delobel, Marie‐José Gregoire, Bruno Leheup, Laurence Taine, Didier Lacombe, Marie‐Ange Delrue, Annick Toutain, Agathe Paubel, Francine Mugneret, Christel Thauvin‐Robinet, Stéphanie Arpin, Cédric Le Caignec, Philippe Jonveaux, Mylène Béri, Nathalie Leporrier, Jacques Motté, Caroline Fiquet, Olivier Brichet, Monique Mozelle-Nivoix, Pascal Sabouraud, Nathalie Golovkine, Nathalie Bednarek, Dominique Gaillard, Martine Doco‐Fenzy
Publicat 2012Artigo -
14
Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome per Houda Karmous‐Benailly, Jéléna Martinovic, Marie‐Claire Gubler, Yoann Sirot, Laure Clech, Catherine Ozilou, Joëlle Augé, Nora Brahimi, Heather Etchevers, Eric Detrait, Chantal Esculpavit, Sophie Audollent, Géraldine Goudefroye, Marie Gonzalès, Julia Tantau, Philippe Loget, Madeleine Joubert, Dominique Gaillard, Corinne Jeanne‐Pasquier, Anne‐Lise Delezoide, Marie-Odile Peter, Ghislaine Plessis, Brigitte Simon‐Bouy, Hélène Dollfus, Martine Le Merrer, Arnold Münnich, Férechté Encha‐Razavi, Michel Vekemans, Tania Attié‐Bitach
Publicat 2005Artigo -
15
Molecular heterogeneity in fetal forms of type II lissencephaly per C Bouchet, M. Gonzalés, Sandrine Vuillaumier‐Barrot, Louise Devisme, C. Lebizec, Elisabeth Alanio, Anne Bazin, B. Bessières-Grattagliano, Nicole Bigi, Patricia Blanchet, Dominique Bonneau, Maryse Bonnières, Dominique Carles, Sophie Delahaye, Catherine Fallet‐Bianco, Dominique Figarella‐Branger, Dominique Gaillard, B. Gasser, Fabien Guimiot, Madeleine Joubert, Nicole Laurent, Agnès Liprandi, Philippe Loget, Pascale Marcorelles, Jéléna Martinovic, F. Menez, Sophie Patrier, Fanny Pelluard-Nehmé, Marie-José Perez, C. Rouleau-Dubois, Stéphane Triau, A. Laquérrière, Férechté Encha‐Razavi, Nathalie Seta
Publicat 2007Artigo -
16
Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients per Daphné Lehalle, Christopher T. Gordon, Myriam Oufadem, Géraldine Goudefroye, Lucile Boutaud, Jean‐Luc Alessandri, Neus Baena, Geneviève Baujat, Clarisse Baumann, Odile Boute‐Bénéjean, Roseline Caumes, Christine Decaestecker, Dominique Gaillard, Alice Goldenberg, Marie Gonzalès, Muriel Holder‐Espinasse, Marie‐Line Jacquemont, Didier Lacombe, Sylvie Manouvrier‐Hanu, Sandrine Marlin, Michèle Mathieu‐Dramard, G Morin, Laurent Pasquier, Florence Petit, Marlène Rio, Robert Śmigiel, Christel Thauvin‐Robinet, Alexandre Vasiljevic, Alain Verloès, Valérie Malan, Arnold Münnich, Loïc de Pontual, Michel Vekemans, Stanislas Lyonnet, Tania Attié‐Bitach, Jeanne Amiel
Publicat 2014Artigo -
17
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies per Louise Devisme, C Bouchet, Marie Gonzalès, Elisabeth Alanio, Anne Bazin, Bettina Bessières, Nicole Bigi, Patricia Blanchet, Dominique Bonneau, Maryse Bonnières, Martine Bucourt, Dominique Carles, Bénédicte Clarisse, S. Delahaye, Catherine Fallet‐Bianco, Dominique Figarella‐Branger, Dominique Gaillard, Bernard Gasser, Anne‐Lise Delezoide, Fabien Guimiot, Madeleine Joubert, Nicole Laurent, Annie Laquerrière, Agnès Liprandi, Philippe Loget, Pascale Marcorelles, Jéléna Martinovic, Françoise Ménez, Sophie Patrier, Fanny Pelluard, Marie-José Perez, Caroline Rouleau, Stéphane Triau, Tania Attié‐Bitach, Sandrine Vuillaumier‐Barrot, Nathalie Seta, Férechté Encha‐Razavi
Publicat 2012Artigo -
18
Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes per Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thévenon, Laurence Jego, Estelle Lopez, Jean‐François Deleuze, Diane Doummar, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Véronique Chevrier, Lydie Bürglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert‐Dussardier, Bruno Reversade, Elisabeth Steichen‐Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie M.H.F. Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St‐Onge, Daniel Birnbaum, Shubha R. Phadke, Valérie Cormier‐Daire, Thibaut Eguether, Gregory J. Pazour, Vicente Herranz‐Pérez, Jaclyn S. Goldstein, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R. Leroux, John B. Wallingford, Oliver E. Blacque, Maxence V. Nachury, Tania Attié‐Bitach, Jean‐Baptiste Rivière, Laurence Faivre, Christel Thauvin‐Robinet
Publicat 2017Revisão -
19
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome per Esther López-Rivera, Yangfan P. Liu, Miguel Verbitsky, Blair R. Anderson, Valentina Capone, Edgar A. Otto, Zhonghai Yan, Adele Mitrotti, Jeremiah Martino, Nicholas J. Steers, David Fasel, Katarina Vukojević, Rong Deng, Silvia E. Racedo, Qingxue Liu, Max Werth, Rik Westland, Asaf Vivante, Gabriel S. Makar, Monica Bodria, Matthew G. Sampson, Christopher E. Gillies, Virginia Vega-Warner, Mariarosa Maiorana, Donald Petrey, Barry Honig, Vladimir J. Lozanovski, Rémi Salomon, Laurence Heidet, Wassila Carpentier, Dominique Gaillard, Alba Carrea, Loreto Gesualdo, Daniele Cusi, Claudia Izzi, Francesco Scolari, J. A. E. van Wijk, Adela Arapović, Mirna Saraga‐Babić, Marijan Saraga, Nenad Kunac, Ali Samii, Donna M. McDonald‐McGinn, T. Blaine Crowley, Elaine H. Zackai, Dorota Drożdż, Monika Miklaszewska, Marcin Tkaczyk, Przemysław Sikora, Maria Szczepańska, Małgorzata Mizerska-Wasiak, Grażyna Krzemień, Agnieszka Szmigielska, Marcin Zaniew, John M. Darlow, Prem Puri, David Barton, E Casolari, Susan L. Furth, Bradley A. Warady, Zoran Gucev, Hákon Hákonarson, Hana Flögelová, Velibor Tasić, Anna Latos‐Bieleńska, Anna Materna‐Kiryluk, Landino Allegri, Craig S. Wong, Iain A. Drummond, Vivette D. D’Agati, Akira Imamoto, Jonathan Barasch, Friedhelm Hildebrandt, Krzysztof Kiryluk, Richard P. Lifton, Bernice E. Morrow, Marc Jeanpierre, Virginia E. Papaioannou, Gian Marco Ghiggeri, Ali G. Gharavi, Nicholas Katsanis, Simone Sanna‐Cherchi
Publicat 2017Artigo -
20
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus per Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D. Beckmann, Guðmar Þorleifsson, Marco Belfiore, Sonia Bouquillon, Dominique Campion, Nicole de Leeuw, Bert B.A. de Vries, Tõnu Esko, Bridget A. Fernandez, Fernando Fernández‐Aranda, José Manuel Fernández‐Real, Mónica Gratacòs, Audrey Guilmatre, Juliane Hoyer, Marjo‐Riitta Järvelin, R. Frank Kooy, Ants Kurg, Cédric Le Caignec, Katrin Männik, Orah S. Platt, Damien Sanlaville, Mieke M. van Haelst, Sergi Villatoro, Faida Walha, Bai-Lin Wu, Yongguo Yu, Azzedine Aboura, Marie‐Claude Addor, Yves Alembik, Stylianos E. Antonarakis, Benoı̂t Arveiler, Magalie Barth, Nathalie Bednarek, Frédérique Béna, Sven Bergmann, Mylène Béri, Laura Bernardini, Bettina Blaumeiser, Dominique Bonneau, Armand Bottani, Odile Boute, Han G. Brunner, Dorothée Cailley, Patrick Callier, Jean Chiésa, Jacqueline Chrast, Lachlan Coin, Charles Coutton, Jean‐Marie Cuisset, J. Cuvellier, Albert David, Bénédicte de Fréminville, Bruno Delobel, Marie‐Ange Delrue, Bénédicte Demeer, Dominique Descamps, Gérard Didelot, Klaus Dieterich, Vittoria Disciglio, Martine Doco‐Fenzy, Séverine Drunat, Bénédicte Duban‐Bedu, Christèle Dubourg, Julia S. El-Sayed Moustafa, Paul Elliott, Brigitte H. W. Faas, Laurence Faivre, Anne Faudet, Florence Fellmann, Alessandra Ferrarini, Richard Fisher, Elisabeth Flori, Lukas Forer, Dominique Gaillard, Marion Gérard, Christian Gieger, Stefania Gimelli, Giorgio Gimelli, Hans J. Grabe, Agnès Guichet, Olivier Guillin, Anna‐Liisa Hartikainen, Delphine Héron, Loyse Hippolyte, Muriel Holder, Georg Homuth, Bertrand Isidor, Sylvie Jaillard, Zdenek Jaros, Susana Jiménez‐Múrcia, Géraldine Joly Helas
Publicat 2011Artigo
Eines de cerca:
Matèries relacionades
Biology
Genetics
Gene
Medicine
Internal medicine
Phenotype
Mutation
Pathology
Endocrinology
Ciliopathy
Exome sequencing
Fetus
Immunology
Obesity
Pregnancy
Anatomy
Bioinformatics
Cancer research
Cell biology
Ciliogenesis
Ciliopathies
Cilium
Cystic fibrosis
Epithelium
Genome
Inflammation
Intellectual disability
Kidney
Lissencephaly
Locus (genetics)