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Overgrowth syndromes — clinical and molecular aspects and tumour risk
Brioude, Frédéric, Toutain, Annick, Giabicani, Eloise, Cottereau, Edouard, Cormier-Daire, Valérie, Netchine, Irene
Published in Nature reviews. Endocrinology (01.05.2019)
Published in Nature reviews. Endocrinology (01.05.2019)
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Journal Article
ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders
Brioude, Frédéric, Haagmans, Martin A., Mannens, Marcel, Netchine, Irene, Alders, Marielle, Henneman, Peter, Bliek, Jet
Published in Clinical epigenetics (07.07.2025)
Published in Clinical epigenetics (07.07.2025)
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Journal Article
Methylome profiling of healthy and central precocious puberty girls
Bessa, Danielle S., Maschietto, Mariana, Aylwin, Carlos Francisco, Canton, Ana P. M., Brito, Vinicius N., Macedo, Delanie B., Cunha-Silva, Marina, Palhares, Heloísa M. C., de Resende, Elisabete A. M. R., Borges, Maria de Fátima, Mendonca, Berenice B., Netchine, Irene, Krepischi, Ana C. V., Lomniczi, Alejandro, Ojeda, Sergio R., Latronico, Ana Claudia
Published in Clinical epigenetics (22.11.2018)
Published in Clinical epigenetics (22.11.2018)
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Journal Article
Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases
Kallali, Wafa, Messiaen, Claude, Saïdi, Roumaisah, Lessim, Soucounda, Viaud, Magali, Dulon, Jerome, Nedelcu, Mariana, Samara, Dinane, Houang, Muriel, Donadille, Bruno, Courtillot, Carine, de Filippo, GianPaolo, Carel, Jean-Claude, Christin-Maitre, Sophie, Touraine, Philippe, Netchine, Irene, Polak, Michel, Léger, Juliane
Published in Orphanet journal of rare diseases (04.11.2021)
Published in Orphanet journal of rare diseases (04.11.2021)
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Journal Article
Low Maternal DLK1 Levels at 26 Weeks Is Associated With Small for Gestational Age at Birth
Pham, Aurelie, Mitanchez, Delphine, Forhan, Anne, Perin, Laurence, Le Bouc, Yves, Brioude, Frederic, Sobrier, Marie-Laure, Heude, Barbara, Netchine, Irene
Published in Frontiers in endocrinology (Lausanne) (28.02.2022)
Published in Frontiers in endocrinology (Lausanne) (28.02.2022)
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Journal Article
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
Azzi, Salah, Salem, Jennifer, Thibaud, Nathalie, Chantot-Bastaraud, Sandra, Lieber, Eli, Netchine, Irène, Harbison, Madeleine D
Published in Journal of medical genetics (01.07.2015)
Published in Journal of medical genetics (01.07.2015)
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Journal Article
Growth Hormone Research Society perspective on biomarkers of GH action in children and adults
Johannsson, Gudmundur, Bidlingmaier, Martin, Biller, Beverly M K, Boguszewski, Margaret, Casanueva, Felipe F, Chanson, Philippe, Clayton, Peter E, Choong, Catherine S, Clemmons, David, Dattani, Mehul, Frystyk, Jan, Ho, Ken, Hoffman, Andrew R, Horikawa, Reiko, Juul, Anders, Kopchick, John J, Luo, Xiaoping, Neggers, Sebastian, Netchine, Irene, Olsson, Daniel S, Radovick, Sally, Rosenfeld, Ron, Ross, Richard J, Schilbach, Katharina, Solberg, Paulo, Strasburger, Christian, Trainer, Peter, Yuen, Kevin C J, Wickstrom, Kerstin, Jorgensen, Jens O L
Published in Endocrine Connections (01.03.2018)
Published in Endocrine Connections (01.03.2018)
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Journal Article
IGF2: Development, Genetic and Epigenetic Abnormalities
Sélénou, Céline, Brioude, Frédéric, Giabicani, Eloïse, Sobrier, Marie-Laure, Netchine, Irène
Published in Cells (Basel, Switzerland) (10.06.2022)
Published in Cells (Basel, Switzerland) (10.06.2022)
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Journal Article
Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction
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
Published in Genetics in medicine (01.02.2018)
Published in Genetics in medicine (01.02.2018)
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Journal Article
Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
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.
Published in Nature reviews. Endocrinology (01.04.2018)
Published in Nature reviews. Endocrinology (01.04.2018)
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Journal Article
Revisiting Wilms tumour surveillance in Beckwith–Wiedemann syndrome with IC2 methylation loss, reply
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
Published in European Journal of Human Genetics (15.02.2018)
Published in European Journal of Human Genetics (15.02.2018)
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Journal Article
Diagnosis and management of Silver–Russell syndrome: first international consensus statement
Wakeling, Emma L., Brioude, Frédéric, Lokulo-Sodipe, Oluwakemi, O'Connell, Susan M., Salem, Jennifer, Bliek, Jet, Canton, Ana P. M., Chrzanowska, Krystyna H., Davies, Justin H., Dias, Renuka P., Dubern, Béatrice, Elbracht, Miriam, Giabicani, Eloise, Grimberg, Adda, Grønskov, Karen, Hokken-Koelega, Anita C. S., Jorge, Alexander A., Kagami, Masayo, Linglart, Agnes, Maghnie, Mohamad, Mohnike, Klaus, Monk, David, Moore, Gudrun E., Murray, Philip G., Ogata, Tsutomu, Petit, Isabelle Oliver, Russo, Silvia, Said, Edith, Toumba, Meropi, Tümer, Zeynep, Binder, Gerhard, Eggermann, Thomas, Harbison, Madeleine D., Temple, I. Karen, Mackay, Deborah J. G., Netchine, Irène
Published in Nature reviews. Endocrinology (01.02.2017)
Published in Nature reviews. Endocrinology (01.02.2017)
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Journal Article
Executive functioning in adolescents and adults with Silver-Russell syndrome
Burgevin, Mélissa, Lacroix, Agnès, Ollivier, Fanny, Bourdet, Karine, Coutant, Régis, Donadille, Bruno, Faivre, Laurence, Manouvrier-Hanu, Sylvie, Petit, Florence, Thauvin-Robinet, Christel, Toutain, Annick, Netchine, Irène, Odent, Sylvie
Published in PloS one (20.01.2023)
Published in PloS one (20.01.2023)
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Journal Article
Evidence for a Continuum of Genetic, Phenotypic, and Biochemical Abnormalities in Children with Growth Hormone Insensitivity
David, Alessia, Hwa, Vivian, Metherell, Louise A., Netchine, Irène, Camacho-Hübner, Cecilia, Clark, Adrian J. L., Rosenfeld, Ron G., Savage, Martin O.
Published in Endocrine reviews (01.08.2011)
Published in Endocrine reviews (01.08.2011)
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Journal Article
Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with IGF1 Mutation Demonstrates Its Critical Role in Growth and Brain Development
Netchine, Irène, Azzi, Salah, Houang, Muriel, Seurin, Danielle, Perin, Laurence, Ricort, Jean-Marc, Daubas, Claudine, Legay, Christine, Mester, Jan, Herich, Robert, Godeau, François, Le Bouc, Yves
Published in The journal of clinical endocrinology and metabolism (01.10.2009)
Published in The journal of clinical endocrinology and metabolism (01.10.2009)
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Journal Article
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
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
Published in Orphanet journal of rare diseases (12.07.2022)
Published in Orphanet journal of rare diseases (12.07.2022)
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Journal Article
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
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
Published in European journal of human genetics : EJHG (01.10.2016)
Published in European journal of human genetics : EJHG (01.10.2016)
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Journal Article
11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations
Netchine, Irène, Rossignol, Sylvie, Dufourg, Marie-Noëlle, Azzi, Salah, Rousseau, Alexandra, Perin, Laurence, Houang, Muriel, Steunou, Virginie, Esteva, Blandine, Thibaud, Nathalie, Raux Demay, Marie-Charles, Danton, Fabienne, Petriczko, Elzbieta, Bertrand, Anne-Marie, Heinrichs, Claudine, Carel, Jean-Claude, Loeuille, Guy-André, Pinto, Graziella, Jacquemont, Marie-Line, Gicquel, Christine, Cabrol, Sylvie, Le Bouc, Yves
Published in The journal of clinical endocrinology and metabolism (01.08.2007)
Published in The journal of clinical endocrinology and metabolism (01.08.2007)
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Journal Article
A proof of concept of a machine learning algorithm to predict late-onset 21-hydroxylase deficiency in children with premature pubic hair
Agnani, Héléna, Bachelot, Guillaume, Eguether, Thibaut, Ribault, Bettina, Fiet, Jean, Le Bouc, Yves, Netchine, Irène, Houang, Muriel, Lamazière, Antonin
Published in The Journal of steroid biochemistry and molecular biology (01.06.2022)
Published in The Journal of steroid biochemistry and molecular biology (01.06.2022)
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Journal Article