Ohcanbohtosat - Brioude, Frédéric

IGF2: Development, Genetic and Epigenetic Abnormalities Dahkki Sélénou, Céline, Brioude, Frédéric, Giabicani, Eloïse, Sobrier, Marie-Laure, Netchine, Irène

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

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CUGC for Simpson-Golabi-Behmel syndrome (SGBS) Dahkki Vuillaume, Marie-Laure, Moizard, Marie-Pierre, Baumer, Alessandra, Cottereau, Edouard, Brioude, Frédéric, Rauch, Anita, Toutain, Annick

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Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants Dahkki Pham, Aurélie, Sobrier, Marie-Laure, Giabicani, Eloïse, Le Jules Fernandes, Marilyne, Mitanchez, Delphine, Brioude, Fréderic, Netchine, Irène

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Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction Dahkki Chantot-Bastaraud, Sandra, Stratmann, Svea, Brioude, Frédéric, Begemann, Matthias, Elbracht, Miriam, Graul-Neumann, Luitgard, Harbison, Madeleine, Netchine, Irène, Eggermann, Thomas

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Low Maternal DLK1 Levels at 26 Weeks Is Associated With Small for Gestational Age at Birth Dahkki Pham, Aurelie, Mitanchez, Delphine, Forhan, Anne, Perin, Laurence, Le Bouc, Yves, Brioude, Frederic, Sobrier, Marie-Laure, Heude, Barbara, Netchine, Irene

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Two Families with Normosmic Congenital Hypogonadotropic Hypogonadism and Biallelic Mutations in KISS1R (KISS1 Receptor): Clinical Evaluation and Molecular Characterization of a Nov... Dahkki Brioude, Frédéric, Bouligand, Jérôme, Francou, Bruno, Fagart, Jérôme, Roussel, Ronan, Viengchareun, Say, Combettes, Laurent, Brailly-Tabard, Sylvie, Lombès, Marc, Young, Jacques, Guiochon-Mantel, Anne

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Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders Dahkki Abi Habib, Walid, Brioude, Frédéric, Azzi, Salah, Rossignol, Sylvie, Linglart, Agnès, Sobrier, Marie-Laure, Giabicani, Éloïse, Steunou, Virginie, Harbison, Madeleine D., Le Bouc, Yves, Netchine, Irène

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Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction Dahkki Abi Habib, Walid, Brioude, Frédéric, Edouard, Thomas, Bennett, James T, Lienhardt-Roussie, Anne, Tixier, Frédérique, Salem, Jennifer, Yuen, Tony, Azzi, Salah, Le Bouc, Yves, Harbison, Madeleine D, Netchine, Irène

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Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes Dahkki Mackay, Deborah J.G., Bliek, Jet, Lombardi, Maria Paola, Russo, Silvia, Calzari, Luciano, Guzzetti, Sara, Izzi, Claudia, Selicorni, Angelo, Melis, Daniela, Temple, Karen, Maher, Eamonn, Brioude, Frédéric, Netchine, Irène, Eggermann, Thomas

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Revisiting Wilms tumour surveillance in Beckwith–Wiedemann syndrome with IC2 methylation loss, reply Dahkki Brioude, Frédéric, Hennekam, Raoul, Bliek, Jet, Coze, Carole, Eggermann, Thomas, Ferrero, Giovanni B., Kratz, Christian, Bouc, Yves Le, Maas, Saskia M., Mackay, Deborah J. G., Maher, Eamonn R., Mussa, Alessandro, Netchine, Irene

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Study of the Factors Leading to Fetal and Neonatal Dysthyroidism in Children of Patients With Graves Disease Dahkki Banigé, Maïa, Estellat, Candice, Biran, Valerie, Desfrere, Luc, Champion, Valerie, Benachi, Alexandra, Ville, Yves, Dommergues, Marc, Jarreau, Pierre-Henri, Mokhtari, Mostafa, Boithias, Claire, Brioude, Frederic, Mandelbrot, Laurent, Ceccaldi, Pierre-François, Mitanchez, Delphine, Polak, Michel, Luton, Dominique

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Nomenclature and Definition in Asymmetric Regional Body Overgrowth Dahkki Kalish, Jennifer M, Biesecker, Leslie G, Brioude, Frederic, Deardorff, Matthew A, Di Cesare-Merlone, Alessandra, Druley, Todd, Ferrero, Giovanni B, Lapunzina, Pablo, Larizza, Lidia, Maas, Saskia, Macchiaiolo, Marina, Maher, Eamonn R, Maitz, Silvia, Martinez-Agosto, Julian A., Mussa, Alessandro, Robinson, Peter, Russo, Silvia, Selicorni, Angelo, Hennekam, Raoul C

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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome Dahkki Eggermann, Katja, Bliek, Jet, Brioude, Frédéric, Algar, Elizabeth, Buiting, Karin, Russo, Silvia, Tümer, Zeynep, Monk, David, Moore, Gudrun, Antoniadi, Thalia, Macdonald, Fiona, Netchine, Irène, Lombardi, Paolo, Soellner, Lukas, Begemann, Matthias, Prawitt, Dirk, Maher, Eamonn R, Mannens, Marcel, Riccio, Andrea, Weksberg, Rosanna, Lapunzina, Pablo, Grønskov, Karen, Mackay, Deborah JG, Eggermann, Thomas

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CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays Dahkki Legendre, Marine, Rodriguez - Ballesteros, Montserrat, Rossi, Massimiliano, Abadie, Véronique, Amiel, Jeanne, Revencu, Nicole, Blanchet, Patricia, Brioude, Frédéric, Delrue, Marie-Ange, Doubaj, Yassamine, Sefiani, Abdelaziz, Francannet, Christine, Holder-Espinasse, Muriel, Jouk, Pierre-Simon, Julia, Sophie, Melki, Judith, Mur, Sébastien, Naudion, Sophie, Fabre-Teste, Jennifer, Busa, Tiffany, Stamm, Stephen, Lyonnet, Stanislas, Attie-Bitach, Tania, Kitzis, Alain, Gilbert-Dussardier, Brigitte, Bilan, Frédéric

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Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling Dahkki Eggermann, Thomas, Brioude, Frédéric, Russo, Silvia, Lombardi, Maria P, Bliek, Jet, Maher, Eamonn R, Larizza, Lidia, Prawitt, Dirk, Netchine, Irène, Gonzales, Marie, Grønskov, Karen, Tümer, Zeynep, Monk, David, Mannens, Marcel, Chrzanowska, Krystyna, Walasek, Malgorzata K, Begemann, Matthias, Soellner, Lukas, Eggermann, Katja, Tenorio, Jair, Nevado, Julián, Moore, Gudrun E, Mackay, Deborah JG, Temple, Karen, Gillessen-Kaesbach, Gabriele, Ogata, Tsutomu, Weksberg, Rosanna, Algar, Elizabeth, Lapunzina, Pablo

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Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement Dahkki Brioude, Frédéric, Kalish, Jennifer M., Mussa, Alessandro, Foster, Alison C., Bliek, Jet, Ferrero, Giovanni Battista, Boonen, Susanne E., Cole, Trevor, Baker, Robert, Bertoletti, Monica, Cocchi, Guido, Coze, Carole, De Pellegrin, Maurizio, Hussain, Khalid, Ibrahim, Abdulla, Kilby, Mark D., Krajewska-Walasek, Malgorzata, Kratz, Christian P., Ladusans, Edmund J., Lapunzina, Pablo, Le Bouc, Yves, Maas, Saskia M., Macdonald, Fiona, Õunap, Katrin, Peruzzi, Licia, Rossignol, Sylvie, Russo, Silvia, Shipster, Caroleen, Skórka, Agata, Tatton-Brown, Katrina, Tenorio, Jair, Tortora, Chiara, Grønskov, Karen, Netchine, Irène, Hennekam, Raoul C., Prawitt, Dirk, Tümer, Zeynep, Eggermann, Thomas, Mackay, Deborah J. G., Riccio, Andrea, Maher, Eamonn R

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