Cowden disease and multicystic dysplastic kidney: increased risk of renal cancer?

Por Teixeira, Ana, Edery, Patrick, Cochat, Pierre
Publicado no Clin Kidney J (2012)

ZEB2, a new candidate gene for asplenia

Por Pons, Linda, Dupuis-Girod, Sophie, Cordier, Marie-Pierre, Edery, Patrick, Rossi, Massimiliano
Publicado em 2014

Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p

Por Demily, Caroline, Rossi, Massimiliano, Chesnoy-Servanin, Gabrielle, Martin, Brice, Poisson, Alice, Sanlaville, Damien, Edery, Patrick
Publicado no BMC Med Genet (2014)

Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome

Por Leutenegger, Anne-Louise, Labalme, Audrey, Génin, Emmanuelle, Toutain, Annick, Steichen, Elisabeth, Clerget-Darpoux, Françoise, Edery, Patrick
Publicado em 2006

Adolescent idiopathic scoliosis (AIS): new gene, new variants

Por Moldovan, Florina, Hassan, Amani, Zaouter, Charlotte, Barchi, Soraya, Edery, Patrick, Drapeau, Pierre, Parent, Stefan, Patten, Shunmoogum A
Publicado no Scoliosis (2015)

Microarray expression profiling identifies genes with altered expression in Adolescent Idiopathic Scoliosis

Por Fendri, Khaled, Patten, Shunmoogum A., Kaufman, Gabriel N., Zaouter, Charlotte, Parent, Stefan, Grimard, Guy, Edery, Patrick, Moldovan, Florina
Publicado em 2013

The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease

Por Bordeaux, Marie-Claire, Forcet, Christelle, Granger, Laure, Corset, Véronique, Bidaud, Christelle, Billaud, Marc, Bredesen, Dale E., Edery, Patrick, Mehlen, Patrick
Publicado em 2000

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

Por Poisson, Alice, Nicolas, Alain, Cochat, Pierre, Sanlaville, Damien, Rigard, Caroline, de Leersnyder, Hélène, Franco, Patricia, Portes, Vincent Des, Edery, Patrick, Demily, Caroline
Publicado no Orphanet J Rare Dis (2015)

Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy

Por Rossi, Massimiliano, Chatron, Nicolas, Labalme, Audrey, Ville, Dorothée, Carneiro, Maryline, Edery, Patrick, des Portes, Vincent, Lemke, Johannes R, Sanlaville, Damien, Lesca, Gaetan
Publicado no Eur J Hum Genet (2017)

New disease gene location and high genetic heterogeneity in idiopathic scoliosis

Por Edery, Patrick, Margaritte-Jeannin, Patricia, Biot, Bernard, Labalme, Audrey, Bernard, Jean-Claude, Chastang, Joëlle, Kassai, Behrouz, Plais, Marie-Helene, Moldovan, Florina, Clerget-Darpoux, Francoise
Publicado em 2011

Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma

Por Guenat, David, Quentin, Samuel, Rizzari, Carmelo, Lundin, Catarina, Coliva, Tiziana, Edery, Patrick, Fryssira, Helen, Bermont, Laurent, Ferrand, Christophe, Soulier, Jean, Borg, Christophe, Rohrlich, Pierre-Simon
Publicado no J Hematol Oncol (2014)

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling

Por Corsini, Carole, Gencik, Martin, Willems, Marjolaine, Decker, Eva, Sanchez, Elodie, Puechberty, Jacques, Schneider, Anouck, Girard, Manon, Edery, Patrick, Bretonnes, Patricia, Cottalorda, Jérôme, Lefort, Geneviève, Jeandel, Claire, Sarda, Pierre, Genevieve, David
Publicado em 2014

ELLIPSE Study: A Phase 1 study evaluating the tolerance of bevacizumab nasal spray in the treatment of epistaxis in hereditary hemorrhagic telangiectasia

Por Dupuis-Girod, Sophie, Ambrun, Alexis, Decullier, Evelyne, Samson, Géraldine, Roux, Adeline, Fargeton, Anne-Emmanuelle, Rioufol, Catherine, Schwiertz, Verane, Disant, François, Chapuis, François, Donazzolo, Yves, Paintaud, Gilles, Edery, Patrick, Faure, Frederic
Publicado em 2014

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements

Por Allou, Lila, Lambert, Laetitia, Amsallem, Daniel, Bieth, Eric, Edery, Patrick, Destrée, Anne, Rivier, François, Amor, David, Thompson, Elizabeth, Nicholl, Julian, Harbord, Michael, Nemos, Christophe, Saunier, Aline, Moustaïne, Aissa, Vigouroux, Adeline, Jonveaux, Philippe, Philippe, Christophe
Publicado em 2012

West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

Por Alfaiz, Ali Abdullah, Müller, Verena, Boutry-Kryza, Nadia, Ville, Dorothée, Guex, Nicolas, de Bellescize, Julitta, Rivier, Clotilde, Labalme, Audrey, des Portes, Vincent, Edery, Patrick, Till, Marianne, Xenarios, Ioannis, Sanlaville, Damien, Herrmann, Johannes M, Lesca, Gaétan, Reymond, Alexandre
Publicado no Eur J Hum Genet (2016)

New Mutations of CIAS1 That Are Responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A Novel Mutation Underlies Both Syndromes

Por Dodé, Catherine, Le Dû, Nathalie, Cuisset, Laurence, Letourneur, Frank, Berthelot, Jean-Marie, Vaudour, Gérard, Meyrier, Alain, Watts, Richard A, Scott, David G. I., Nicholls, Anne, Granel, Brigitte, Frances, Camille, Garcier, François, Edery, Patrick, Boulinguez, Serge, Domergues, Jean-Paul, Delpech, Marc, Grateau, Gilles
Publicado em 2002

Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

Por Marshall, Christian R., Young, Edwin J., Pani, Ariel M., Freckmann, Mary-Louise, Lacassie, Yves, Howald, Cédric, Fitzgerald, Kristi K., Peippo, Maarit, Morris, Colleen A., Shane, Kate, Priolo, Manuela, Morimoto, Masafumi, Kondo, Ikuko, Manguoglu, Esra, Berker-Karauzum, Sibel, Edery, Patrick, Hobart, Holly H., Mervis, Carolyn B., Zuffardi, Orsetta, Reymond, Alexandre, Kaplan, Paige, Tassabehji, May, Gregg, Ronald G., Scherer, Stephen W., Osborne, Lucy R.
Publicado em 2008

Functional variants of POC5 identified in patients with idiopathic scoliosis

Por Patten, Shunmoogum A., Margaritte-Jeannin, Patricia, Bernard, Jean-Claude, Alix, Eudeline, Labalme, Audrey, Besson, Alicia, Girard, Simon L., Fendri, Khaled, Fraisse, Nicolas, Biot, Bernard, Poizat, Coline, Campan-Fournier, Amandine, Abelin-Genevois, Kariman, Cunin, Vincent, Zaouter, Charlotte, Liao, Meijiang, Lamy, Raphaelle, Lesca, Gaetan, Menassa, Rita, Marcaillou, Charles, Letexier, Melanie, Sanlaville, Damien, Berard, Jerome, Rouleau, Guy A., Clerget-Darpoux, Françoise, Drapeau, Pierre, Moldovan, Florina, Edery, Patrick
Publicado no J Clin Invest (2015)

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

Por Quartier, Angélique, Poquet, Hélène, Gilbert-Dussardier, Brigitte, Rossi, Massimiliano, Casteleyn, Anne-Sophie, Portes, Vincent des, Feger, Claire, Nourisson, Elsa, Kuentz, Paul, Redin, Claire, Thevenon, Julien, Mosca-Boidron, Anne-Laure, Callier, Patrick, Muller, Jean, Lesca, Gaetan, Huet, Frédéric, Geoffroy, Véronique, El Chehadeh, Salima, Jung, Matthieu, Trojak, Benoit, Le Gras, Stéphanie, Lehalle, Daphné, Jost, Bernard, Maury, Stéphanie, Masurel, Alice, Edery, Patrick, Thauvin-Robinet, Christel, Gérard, Bénédicte, Mandel, Jean-Louis, Faivre, Laurence, Piton, Amélie
Publicado no Eur J Hum Genet (2017)

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

Por Huber, Céline, Delezoide, Anee-Lise, Guimiot, Fabien, Baumann, Clarisse, Malan, Valérie, Le Merrer, Martine, Da Silva, Daniela Bezerra, Bonneau, Dominique, Chatelain, Pierre, Chu, Carol, Clark, Robin, Cox, Helen, Edery, Patrick, Edouard, Thomas, Fano, Virginia, Gibson, Kate, Gillessen-Kaesbach, Gabriele, Giovannucci-Uzielli, Maria-Luisa, Graul-Neumann, Luitgard Margarete, van Hagen, Johana-Maria, van Hest, Liselot, Horovitz, Dafne, Melki, Judith, Partsch, Carl-Joachim, Plauchu, Henry, Rajab, Anna, Rossi, Massimiliano, Sillence, David, Steichen-Gersdorf, Elisabeth, Stewart, Helen, Unger, Sheila, Zenker, Martin, Munnich, Arnold, Cormier-Daire, Valérie
Publicado em 2009