Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation

by Diane Darneau, Eloïse Giabicani, Irène Netchine, Aurélie Pham
Published 2024-04-01

<i>IGF2</i>: Development, Genetic and Epigenetic Abnormalities

by Céline Sélénou, Frédéric Brioude, Eloïse Giabicani, Marie-Laure Sobrier, Irène Netchine
Published 2022-06-01

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

by Bruno Donadille, Muriel Houang, Irène Netchine, Jean-Pierre Siffroi, Sophie Christin-Maitre
Published 2018-03-01

New Horizons in Short Children Born Small for Gestational Age

by Irène Netchine, Manouk van der Steen, Abel López-Bermejo, Ekaterina Koledova, Mohamad Maghnie, Mohamad Maghnie
Published 2021-05-01

Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot

by Muriel Houang, Thao Nguyen-Khoa, Thibaut Eguether, Bettina Ribault, Séverine Brabant, Michel Polak, Irène Netchine, Antonin Lamazière
Published 2022-06-01

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

by Eloïse Giabicani, Sandra Chantot-Bastaraud, Sandra Chantot-Bastaraud, Adeline Bonnard, Myriam Rachid, Sandra Whalen, Irène Netchine, Frédéric Brioude
Published 2019-04-01

Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network

by Thomas Eggermann, Justin H. Davies, Maithé Tauber, Erica van den Akker, Anita Hokken-Koelega, Gudmundur Johansson, Irène Netchine
Published 2021-04-01

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

by Sandra Chantot-Bastaraud, Svea Stratmann, Frédéric Brioude, Matthias Begemann, Miriam Elbracht, Luitgard Graul-Neumann, Madeleine Harbison, Irène Netchine, Thomas Eggermann
Published 2017-07-01

Dental pulp stem cells as a promising model to study imprinting diseases

by Eloïse Giabicani, Aurélie Pham, Céline Sélénou, Marie-Laure Sobrier, Caroline Andrique, Julie Lesieur, Agnès Linglart, Anne Poliard, Catherine Chaussain, Irène Netchine
Published 2022-04-01

Low Maternal DLK1 Levels at 26 Weeks Is Associated With Small for Gestational Age at Birth

by Aurelie Pham, Delphine Mitanchez, Delphine Mitanchez, Anne Forhan, Laurence Perin, Yves Le Bouc, Frederic Brioude, Marie-Laure Sobrier, Barbara Heude, Irene Netchine
Published 2022-02-01

Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives

by Danielle Christine Maria van der Kaay, Anne Rochtus, Gerhard Binder, Ingo Kurth, Dirk Prawitt, Irène Netchine, Gudmundur Johannsson, Anita C S Hokken-Koelega, Miriam Elbracht, Thomas Eggermann
Published 2022-10-01

Executive functioning in adolescents and adults with Silver-Russell syndrome.

by Mélissa Burgevin, Agnès Lacroix, Fanny Ollivier, Karine Bourdet, Régis Coutant, Bruno Donadille, Laurence Faivre, Sylvie Manouvrier-Hanu, Florence Petit, Christel Thauvin-Robinet, Annick Toutain, Irène Netchine, Sylvie Odent
Published 2023-01-01

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

by Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, George Mastorakos, Gudmundur Johannsson, Thomas J. Musholt, Martin Zenker, Dirk Prawitt, Alberto M. Pereira, Olaf Hiort, on behalf of the European Reference Network on Rare Endocrine Conditions (ENDO-ERN
Published 2020-06-01

Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases

by Wafa Kallali, Claude Messiaen, Roumaisah Saïdi, Soucounda Lessim, Magali Viaud, Jerome Dulon, Mariana Nedelcu, Dinane Samara, Muriel Houang, Bruno Donadille, Carine Courtillot, GianPaolo de Filippo, Jean-Claude Carel, Sophie Christin-Maitre, Philippe Touraine, Irene Netchine, Michel Polak, Juliane Léger
Published 2021-11-01

Methylome profiling of healthy and central precocious puberty girls

by Danielle S. Bessa, Mariana Maschietto, Carlos Francisco Aylwin, Ana P. M. Canton, Vinicius N. Brito, Delanie B. Macedo, Marina Cunha-Silva, Heloísa M. C. Palhares, Elisabete A. M. R. de Resende, Maria de Fátima Borges, Berenice B. Mendonca, Irene Netchine, Ana C. V. Krepischi, Alejandro Lomniczi, Sergio R. Ojeda, Ana Claudia Latronico
Published 2018-11-01

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

by Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara-Boustani, Muriel Houang, Gianpaolo De Filippo, Anne Bachelot, Clemence Delcour, Constance Beyler, Emilie Bois, Emmanuelle Bourrat, Emmanuel Bui Quoc, Nathalie Bourcigaux, Catherine Chaussain, Ariel Cohen, Martine Cohen-Solal, Sabrina Da Costa, Claire Dossier, Stephane Ederhy, Monique Elmaleh, Laurence Iserin, Hélène Lengliné, Armelle Poujol-Robert, Dominique Roulot, Jerome Viala, Frederique Albarel, Elise Bismuth, Valérie Bernard, Claire Bouvattier, Aude Brac, Patricia Bretones, Nathalie Chabbert-Buffet, Philippe Chanson, Regis Coutant, Marguerite de Warren, Béatrice Demaret, Lise Duranteau, Florence Eustache, Lydie Gautheret, Georges Gelwane, Claire Gourbesville, Mickaël Grynberg, Karinne Gueniche, Carina Jorgensen, Veronique Kerlan, Charlotte Lebrun, Christine Lefevre, Françoise Lorenzini, Sylvie Manouvrier, Catherine Pienkowski, Rachel Reynaud, Yves Reznik, Jean-Pierre Siffroi, Anne-Claude Tabet, Maithé Tauber, Vanessa Vautier, Igor Tauveron, Sebastien Wambre, Delphine Zenaty, Irène Netchine, Michel Polak, Philippe Touraine, Jean-Claude Carel, Sophie Christin-Maitre, Juliane Léger
Published 2022-07-01