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

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

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

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