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Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.
Published in:
Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S001667231900003X
By:
- 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
Publication type:
Article
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
Published in:
Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01358-9
By:
- Mackay, Deborah;
- Bliek, Jet;
- Kagami, Masayo;
- Tenorio-Castano, Jair;
- Pereda, Arrate;
- Brioude, Frédéric;
- Netchine, Irène;
- Papingi, Dzhoy;
- de Franco, Elisa;
- Lever, Margaret;
- Sillibourne, Julie;
- Lombardi, Paola;
- Gaston, Véronique;
- Tauber, Maithé;
- Diene, Gwenaelle;
- Bieth, Eric;
- Fernandez, Luis;
- Nevado, Julian;
- Tümer, Zeynep;
- Riccio, Andrea
Publication type:
Article
Two Families with Normosmic Congenital Hypogonadotropic Hypogonadism and Biallelic Mutations in KISS1R (KISS1 Receptor): Clinical Evaluation and Molecular Characterization of a Novel Mutation.
Published in:
PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053896
By:
- Brioude, Frédéric;
- Bouligand, Jérôme;
- Francou, Bruno;
- Fagart, Jérôme;
- Roussel, Ronan;
- Viengchareun, Say;
- Combettes, Laurent;
- Brailly-Tabard, Sylvie;
- Lombés, Marc;
- Young, Jacques;
- Guiochon-Mantel, Anne
Publication type:
Article
Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
Published in:
European Journal of Endocrinology, 2024, v. 190, n. 2, p. 151, doi. 10.1093/ejendo/lvae009
By:
- Perge, Kevin;
- Capel, Emilie;
- Villanueva, Carine;
- Gautheron, Jérémie;
- Diallo, Safiatou;
- Auclair, Martine;
- Rondeau, Sophie;
- Morichon, Romain;
- Brioude, Frédéric;
- Jéru, Isabelle;
- Rossi, Massimiliamo;
- Nicolino, Marc;
- Vigouroux, Corinne
Publication type:
Article
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.
Published in:
Human Reproduction, 2012, v. 27, n. 5, p. 1460, doi. 10.1093/humrep/des022
By:
- Young, Jacques;
- Metay, Corinne;
- Bouligand, Jerome;
- Tou, Bassim;
- Francou, Bruno;
- Maione, Luigi;
- Tosca, Lucie;
- Sarfati, Julie;
- Brioude, Frédéric;
- Esteva, Blandine;
- Briand-Suleau, Audrey;
- Brisset, Sophie;
- Goossens, Michel;
- Tachdjian, Gerard;
- Guiochon-Mantel, Anne
Publication type:
Article
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 21, p. 5763, doi. 10.1093/hmg/ddu290
By:
- Abi Habib, Walid;
- Azzi, Salah;
- Brioude, Frédéric;
- Steunou, Virginie;
- Thibaud, Nathalie;
- Neves, Cristina Das;
- Le Jule, Marilyne;
- Chantot-Bastaraud, Sandra;
- Keren, Boris;
- Lyonnet, Stanislas;
- Michot, Caroline;
- Rossi, Massimiliano;
- Pasquier, Laurent;
- Gicquel, Christine;
- Rossignol, Sylvie;
- Le Bouc, Yves;
- Netchine, Irène
Publication type:
Article
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.
Published in:
Frontiers in Endocrinology, 2019, p. N.PAG, doi. 10.3389/fendo.2019.00263
By:
- Giabicani, Eloïse;
- Chantot-Bastaraud, Sandra;
- Bonnard, Adeline;
- Rachid, Myriam;
- Whalen, Sandra;
- Netchine, Irène;
- Brioude, Frédéric
Publication type:
Article
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.
Published in:
Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0329-1
By:
- Chantot-Bastaraud, Sandra;
- Stratmann, Svea;
- Brioude, Frédéric;
- Begemann, Matthias;
- Elbracht, Miriam;
- Graul-Neumann, Luitgard;
- Harbison, Madeleine;
- Netchine, Irène;
- Eggermann, Thomas
Publication type:
Article
IGF2 : Development, Genetic and Epigenetic Abnormalities.
Published in:
Cells (2073-4409), 2022, v. 11, n. 12, p. 1886, doi. 10.3390/cells11121886
By:
- Sélénou, Céline;
- Brioude, Frédéric;
- Giabicani, Eloïse;
- Sobrier, Marie-Laure;
- Netchine, Irène
Publication type:
Article
Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature.
Published in:
Human Mutation, 2018, v. 39, n. 12, p. 2110, doi. 10.1002/humu.23612
By:
- Vuillaume, Marie‐Laure;
- Moizard, Marie‐Pierre;
- Rossignol, Sylvie;
- Cottereau, Edouard;
- Vonwill, Sandrine;
- Alessandri, Jean‐Luc;
- Busa, Tiffany;
- Colin, Estelle;
- Gérard, Marion;
- Giuliano, Fabienne;
- Lambert, Laetitia;
- Lefevre, Mathilde;
- Kotecha, Udhaya;
- Nampoothiri, Sheela;
- Netchine, Irène;
- Raynaud, Martine;
- Brioude, Frédéric;
- Toutain, Annick
Publication type:
Article
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Published in:
Human Mutation, 2018, v. 39, n. 6, p. 790, doi. 10.1002/humu.23428
By:
- Vuillaume, Marie-Laure;
- Moizard, Marie-Pierre;
- Rossignol, Sylvie;
- Cottereau, Edouard;
- Vonwill, Sandrine;
- Alessandri, Jean-Luc;
- Busa, Tiffany;
- Colin, Estelle;
- Gérard, Marion;
- Giuliano, Fabienne;
- Lambert, Laetitia;
- Lefevre, Mathilde;
- Kotecha, Udhaya;
- Nampoothiri, Sheela;
- Netchine, Irène;
- Raynaud, Martine;
- Brioude, Frédéric;
- Toutain, Annick
Publication type:
Article
Complex Tissue-Specific Epigenotypes in Russell- Silver Syndrome Associated with 11p15 ICR1 Hypomethylation.
Published in:
Human Mutation, 2014, v. 35, n. 10, p. 1211, doi. 10.1002/humu.22623
By:
- Azzi, Salah;
- Blaise, Annick;
- Steunou, Virginie;
- Harbison, Madeleine D.;
- Salem, Jennifer;
- Brioude, Frédéric;
- Rossignol, Sylvie;
- Habib, Walid Abi;
- Thibaud, Nathalie;
- Neves, Cristina Das;
- Jule, Marilyne Le;
- Brachet, Cécile;
- Heinrichs, Claudine;
- Bouc, Yves Le;
- Netchine, Irène
Publication type:
Article

Found: 12