Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion

por Giabicani, Eloïse, Chantot-Bastaraud, Sandra, Bonnard, Adeline, Rachid, Myriam, Whalen, Sandra, Netchine, Irène, Brioude, Frédéric
Publicado 2019

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

por Azzi, Salah, Salem, Jennifer, Thibaud, Nathalie, Chantot-Bastaraud, Sandra, Lieber, Eli, Netchine, Irène, Harbison, Madeleine D
Publicado 2015

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

por Chantot-Bastaraud, Sandra, Stratmann, Svea, Brioude, Frédéric, Begemann, Matthias, Elbracht, Miriam, Graul-Neumann, Luitgard, Harbison, Madeleine, Netchine, Irène, Eggermann, Thomas
Publicado 2017

When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20

por Hureaux, Marguerite, Chantot-Bastaraud, Sandra, Cassinari, Kévin, Martinez Casado, Edouard, Cuny, Ariane, Frébourg, Thierry, Vargas-Poussou, Rosa, Bréhin, Anne-Claire
Publicado 2021

Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness

por Cravero, Cora, Guinchat, Vincent, Xavier, Jean, Meunier, Camille, Diaz, Lautaro, Mignot, Cyril, Doummar, Diane, Chantot-Bastaraud, Sandra, Consoli, Angèle, Cohen, David
Publicado 2017

OR13-003 - TNFRSF11A molecular defects cause autoinflammatory disorders

por Jéru, I, Cochet, E, Duquesnoy, P, Hentgen, V, Copin, B, Mitjavila-Garcia, M, Sheykholeslami, S, Le Borgne, G, Dastot, F, Karabina, S, Mahevas, M, Chantot-Bastaraud, S, Faivre, L, Amselem, S
Publicado 2013

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

Congenital immobility and stiffness related to biallelic ATAD1 variants

por Bunod, Roxane, Doummar, Diane, Whalen, Sandra, Keren, Boris, Chantot-Bastaraud, Sandra, Maincent, Kim, Villy, Marie-Charlotte, Mayer, Michèle, Rodriguez, Diana, Burglen, Lydie, Léger, Pierre-Louis, Kieffer, François, Martin, Isabelle, Héron, Delphine, Buratti, Julien, Isapof, Arnaud, Afenjar, Alexandra, Billette de Villemeur, Thierry, Mignot, Cyril
Publicado 2020

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

Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy

por Zeitz, Christina, Méjécase, Cécile, Michiels, Christelle, Condroyer, Christel, Wohlschlegel, Juliette, Foussard, Marine, Antonio, Aline, Démontant, Vanessa, Emmenegger, Lisa, Schalk, Audrey, Neuillé, Marion, Orhan, Elise, Augustin, Sébastien, Bonnet, Crystel, Estivalet, Amrit, Blond, Frédéric, Blanchard, Steven, Andrieu, Camille, Chantot-Bastaraud, Sandra, Léveillard, Thierry, Mohand-Saïd, Saddek, Sahel, José-Alain, Audo, Isabelle
Publicado 2021

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

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

por Mignot, Cyril, Apartis, Emmanuelle, Durr, Alexandra, Marques Lourenço, Charles, Charles, Perrine, Devos, David, Moreau, Caroline, de Lonlay, Pascale, Drouot, Nathalie, Burglen, Lydie, Kempf, Nadine, Nourisson, Elsa, Chantot-Bastaraud, Sandra, Lebre, Anne-Sophie, Rio, Marlène, Chaix, Yves, Bieth, Eric, Roze, Emmanuel, Bonnet, Isabelle, Canaple, Sandrine, Rastel, Coralie, Brice, Alexis, Rötig, Agnès, Desguerre, Isabelle, Tranchant, Christine, Koenig, Michel, Anheim, Mathieu
Publicado 2013

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

por Bonnet, Crystel, Riahi, Zied, Chantot-Bastaraud, Sandra, Smagghe, Luce, Letexier, Mélanie, Marcaillou, Charles, Lefèvre, Gaëlle M, Hardelin, Jean-Pierre, El-Amraoui, Aziz, Singh-Estivalet, Amrit, Mohand-Saïd, Saddek, Kohl, Susanne, Kurtenbach, Anne, Sliesoraityte, Ieva, Zobor, Ditta, Gherbi, Souad, Testa, Francesco, Simonelli, Francesca, Banfi, Sandro, Fakin, Ana, Glavač, Damjan, Jarc-Vidmar, Martina, Zupan, Andrej, Battelino, Saba, Martorell Sampol, Loreto, Claveria, Maria Antonia, Catala Mora, Jaume, Dad, Shzeena, Møller, Lisbeth B, Rodriguez Jorge, Jesus, Hawlina, Marko, Auricchio, Alberto, Sahel, José-Alain, Marlin, Sandrine, Zrenner, Eberhart, Audo, Isabelle, Petit, Christine
Publicado 2016

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

por Jacquin, Clémence, Landais, Emilie, Poirsier, Céline, Afenjar, Alexandra, Akhavi, Ahmad, Bednarek, Nathalie, Bénech, Caroline, Bonnard, Adeline, Bosquet, Damien, Burglen, Lydie, Callier, Patrick, Chantot‐Bastaraud, Sandra, Coubes, Christine, Coutton, Charles, Delobel, Bruno, Descharmes, Margaux, Dupont, Jean‐Michel, Gatinois, Vincent, Gruchy, Nicolas, Guterman, Sarah, Heddar, Abdelkader, Herissant, Lucas, Heron, Delphine, Isidor, Bertrand, Jaeger, Pauline, Jouret, Guillaume, Keren, Boris, Kuentz, Paul, Le Caignec, Cedric, Levy, Jonathan, Lopez, Nathalie, Manssens, Zoe, Martin‐Coignard, Dominique, Marey, Isabelle, Mignot, Cyril, Missirian, Chantal, Pebrel‐Richard, Céline, Pinson, Lucile, Puechberty, Jacques, Redon, Sylvia, Sanlaville, Damien, Spodenkiewicz, Marta, Tabet, Anne‐Claude, Verloes, Alain, Vieville, Gaelle, Yardin, Catherine, Vialard, François, Doco‐Fenzy, Martine
Publicado 2022

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

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

por Tabet, Anne-Claude, Rolland, Thomas, Ducloy, Marie, Lévy, Jonathan, Buratti, Julien, Mathieu, Alexandre, Haye, Damien, Perrin, Laurence, Dupont, Céline, Passemard, Sandrine, Capri, Yline, Verloes, Alain, Drunat, Séverine, Keren, Boris, Mignot, Cyril, Marey, Isabelle, Jacquette, Aurélia, Whalen, Sandra, Pipiras, Eva, Benzacken, Brigitte, Chantot-Bastaraud, Sandra, Afenjar, Alexandra, Héron, Delphine, Le Caignec, Cédric, Beneteau, Claire, Pichon, Olivier, Isidor, Bertrand, David, Albert, El Khattabi, Laila, Kemeny, Stephan, Gouas, Laetitia, Vago, Philippe, Mosca-Boidron, Anne-Laure, Faivre, Laurence, Missirian, Chantal, Philip, Nicole, Sanlaville, Damien, Edery, Patrick, Satre, Véronique, Coutton, Charles, Devillard, Françoise, Dieterich, Klaus, Vuillaume, Marie-Laure, Rooryck, Caroline, Lacombe, Didier, Pinson, Lucile, Gatinois, Vincent, Puechberty, Jacques, Chiesa, Jean, Lespinasse, James, Dubourg, Christèle, Quelin, Chloé, Fradin, Mélanie, Journel, Hubert, Toutain, Annick, Martin, Dominique, Benmansour, Abdelamdjid, Leblond, Claire S., Toro, Roberto, Amsellem, Frédérique, Delorme, Richard, Bourgeron, Thomas
Publicado 2017

Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

por Tabet, Anne-Claude, Rolland, Thomas, Ducloy, Marie, Lévy, Jonathan, Buratti, Julien, Mathieu, Alexandre, Haye, Damien, Perrin, Laurence, Dupont, Céline, Passemard, Sandrine, Capri, Yline, Verloes, Alain, Drunat, Séverine, Keren, Boris, Mignot, Cyril, Marey, Isabelle, Jacquette, Aurélia, Whalen, Sandra, Pipiras, Eva, Benzacken, Brigitte, Chantot-Bastaraud, Sandra, Afenjar, Alexandra, Héron, Delphine, Le Caignec, Cédric, Beneteau, Claire, Pichon, Olivier, Isidor, Bertrand, David, Albert, El Khattabi, Laila, Kemeny, Stephan, Gouas, Laetitia, Vago, Philippe, Mosca-Boidron, Anne-Laure, Faivre, Laurence, Missirian, Chantal, Philip, Nicole, Sanlaville, Damien, Edery, Patrick, Satre, Véronique, Coutton, Charles, Devillard, Françoise, Dieterich, Klaus, Vuillaume, Marie-Laure, Rooryck, Caroline, Lacombe, Didier, Pinson, Lucile, Gatinois, Vincent, Puechberty, Jacques, Chiesa, Jean, Lespinasse, James, Dubourg, Christèle, Quelin, Chloé, Fradin, Mélanie, Journel, Hubert, Toutain, Annick, Martin, Dominique, Benmansour, Abdelamdjid, Leblond, Claire S., Toro, Roberto, Amsellem, Frédérique, Delorme, Richard, Bourgeron, Thomas
Publicado 2019

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

por Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., van Haelst, Mieke M., de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, Attié-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril
Publicado 2017