Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit

por Donadille, Bruno, Houang, Muriel, Netchine, Irène, Siffroi, Jean-Pierre, Christin-Maitre, Sophie
Publicado 2018

First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier

por Rouen, Alexandre, Hyon, Capucine, Balet, Richard, Joyé, Nicole, Cassuto, Nino Guy, Siffroi, Jean-Pierre
Publicado 2014

Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

por Lévy, Jonathan, Jouannic, Jean-Marie, Saada, Julien, Dhombres, Ferdinand, Siffroi, Jean-Pierre, Portnoï, Marie-France
Publicado 2013

Different Levels of DNA Methylation Detected in Human Sperms after Morphological Selection Using High Magnification Microscopy

por Cassuto, Nino Guy, Montjean, Debbie, Siffroi, Jean-Pierre, Bouret, Dominique, Marzouk, Flora, Copin, Henri, Benkhalifa, Moncef
Publicado 2016

Molecular Profiling of Spermatozoa Reveals Correlations between Morphology and Gene Expression: A Novel Biomarker Panel for Male Infertility

por Cassuto, Nino Guy, Piquemal, David, Boitrelle, Florence, Larue, Lionel, Lédée, Nathalie, Hatem, Ghada, Ruoso, Léa, Bouret, Dominique, Siffroi, Jean-Pierre, Rouen, Alexandre, Assou, Said
Publicado 2021

Lack of Association between Genetic Polymorphisms in Enzymes Associated with Folate Metabolism and Unexplained Reduced Sperm Counts

por Ravel, Celia, Chantot-Bastaraud, Sandra, Chalmey, Clementine, Barreiro, Luis, Aknin-Seifer, Isabelle, Pfeffer, Jerome, Berthaut, Isabelle, Mathieu, E. Emmanuelle, Mandelbaum, Jacqueline, Siffroi, Jean-Pierre, McElreavey, Ken, Bashamboo, Anu
Publicado 2009

Functional Human Beige Adipocytes From Induced Pluripotent Stem Cells

por Guénantin, Anne-Claire, Briand, Nolwenn, Capel, Emilie, Dumont, Florent, Morichon, Romain, Provost, Claire, Stillitano, Francesca, Jeziorowska, Dorota, Siffroi, Jean-Pierre, Hajjar, Roger J., Fève, Bruno, Hulot, Jean-Sébastien, Collas, Philippe, Capeau, Jacqueline, Vigouroux, Corinne
Publicado 2017

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

por Bashamboo, Anu, Eozenou, Caroline, Jorgensen, Anne, Bignon-Topalovic, Joelle, Siffroi, Jean-Pierre, Hyon, Capucine, Tar, Attila, Nagy, Péter, Sólyom, Janos, Halász, Zita, Paye-Jaouen, Annnabel, Lambert, Sophie, Rodriguez-Buritica, David, Bertalan, Rita, Martinerie, Laetitia, Rajpert-De Meyts, Ewa, Achermann, John C., McElreavey, Ken
Publicado 2018

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

por Burglen, Lydie, Chantot-Bastaraud, Sandra, Garel, Catherine, Milh, Mathieu, Touraine, Renaud, Zanni, Ginevra, Petit, Florence, Afenjar, Alexandra, Goizet, Cyril, Barresi, Sabina, Coussement, Aurélie, Ioos, Christine, Lazaro, Leila, Joriot, Sylvie, Desguerre, Isabelle, Lacombe, Didier, des Portes, Vincent, Bertini, Enrico, Siffroi, Jean-Pierre, Billette de Villemeur, Thierry, Rodriguez, Diana
Publicado 2012

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

por Tabet, Anne-Claude, Verloes, Alain, Pilorge, Marion, Delaby, Elsa, Delorme, Richard, Nygren, Gudrun, Devillard, Françoise, Gérard, Marion, Passemard, Sandrine, Héron, Delphine, Siffroi, Jean-Pierre, Jacquette, Aurelia, Delahaye, Andrée, Perrin, Laurence, Dupont, Céline, Aboura, Azzedine, Bitoun, Pierre, Coleman, Mary, Leboyer, Marion, Gillberg, Christopher, Benzacken, Brigitte, Betancur, Catalina
Publicado 2015

The NLRP3 p.A441V Mutation in NLRP3‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event

por Awad, Fawaz, Assrawi, Eman, Jumeau, Claire, Odent, Sylvie, Despert, Veronique, Cam, Gérard, Perdriger, Aleth, Louvrier, Camille, Cobret, Laetitia, Copin, Bruno, Chantot‐Bastaraud, Sandra, Duquesnoy, Philippe, Piterboth, William, Le Jeunne, Claire, Quenum‐Miraillet, Genevieve, Siffroi, Jean Pierre, Georgin‐Lavialle, Sophie, Grateau, Gilles, Legendre, Marie, Giurgea, Irina, Karabina, Sonia‐Athina, Amselem, Serge
Publicado 2019

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

por McElreavey, Ken, Jorgensen, Anne, Eozenou, Caroline, Merel, Tiphanie, Bignon-Topalovic, Joelle, Tan, Daisylyn Senna, Houzelstein, Denis, Buonocore, Federica, Warr, Nick, Kay, Raissa G. G., Peycelon, Matthieu, Siffroi, Jean-Pierre, Mazen, Inas, Achermann, John C., Shcherbak, Yuliya, Leger, Juliane, Sallai, Agnes, Carel, Jean-Claude, Martinerie, Laetitia, Le Ru, Romain, Conway, Gerard S., Mignot, Brigitte, Van Maldergem, Lionel, Bertalan, Rita, Globa, Evgenia, Brauner, Raja, Jauch, Ralf, Nef, Serge, Greenfield, Andy, Bashamboo, Anu
Publicado 2019

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

por Portnoi, Marie-France, Dumargne, Marie-Charlotte, Rojo, Sandra, Witchel, Selma F, Duncan, Andrew J, Eozenou, Caroline, Bignon-Topalovic, Joelle, Yatsenko, Svetlana A, Rajkovic, Aleksandar, Reyes-Mugica, Miguel, Almstrup, Kristian, Fusee, Leila, Srivastava, Yogesh, Chantot-Bastaraud, Sandra, Hyon, Capucine, Louis-Sylvestre, Christine, Validire, Pierre, de Malleray Pichard, Caroline, Ravel, Celia, Christin-Maitre, Sophie, Brauner, Raja, Rossetti, Raffaella, Persani, Luca, Charreau, Eduardo H, Dain, Liliana, Chiauzzi, Violeta A, Mazen, Inas, Rouba, Hassan, Schluth-Bolard, Caroline, MacGowan, Stuart, McLean, W H Irwin, Patin, Etienne, Rajpert-De Meyts, Ewa, Jauch, Ralf, Achermann, John C, Siffroi, Jean-Pierre, McElreavey, Ken, Bashamboo, Anu
Publicado 2018

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

por Fiot, Elodie, Alauze, Bertille, Donadille, Bruno, Samara-Boustani, Dinane, Houang, Muriel, De Filippo, Gianpaolo, Bachelot, Anne, Delcour, Clemence, Beyler, Constance, Bois, Emilie, Bourrat, Emmanuelle, Bui Quoc, Emmanuel, Bourcigaux, Nathalie, Chaussain, Catherine, Cohen, Ariel, Cohen-Solal, Martine, Da Costa, Sabrina, Dossier, Claire, Ederhy, Stephane, Elmaleh, Monique, Iserin, Laurence, Lengliné, Hélène, Poujol-Robert, Armelle, Roulot, Dominique, Viala, Jerome, Albarel, Frederique, Bismuth, Elise, Bernard, Valérie, Bouvattier, Claire, Brac, Aude, Bretones, Patricia, Chabbert-Buffet, Nathalie, Chanson, Philippe, Coutant, Regis, de Warren, Marguerite, Demaret, Béatrice, Duranteau, Lise, Eustache, Florence, Gautheret, Lydie, Gelwane, Georges, Gourbesville, Claire, Grynberg, Mickaël, Gueniche, Karinne, Jorgensen, Carina, Kerlan, Veronique, Lebrun, Charlotte, Lefevre, Christine, Lorenzini, Françoise, Manouvrier, Sylvie, Pienkowski, Catherine, Reynaud, Rachel, Reznik, Yves, Siffroi, Jean-Pierre, Tabet, Anne-Claude, Tauber, Maithé, Vautier, Vanessa, Tauveron, Igor, Wambre, Sebastien, Zenaty, Delphine, Netchine, Irène, Polak, Michel, Touraine, Philippe, Carel, Jean-Claude, Christin-Maitre, Sophie, Léger, Juliane
Publicado 2022