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Nomenclature and definition in asymmetric regional body overgrowth.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1735, doi. 10.1002/ajmg.a.38266
By:
- 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.
Publication type:
Article
Cover Image, Volume 173A, Number 7, July 2017.
Published in:
2017
By:
- 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.
Publication type:
Other
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.
Published in:
2016
By:
- Cohen, Enzo;
- Maghnie, Mohamad;
- Collot, Nathalie;
- Leger, Juliane;
- Dastot, Florence;
- Polak, Michel;
- Rose, Sophie;
- Touraine, Philippe;
- Duquesnoy, Philippe;
- Tauber, Maïté;
- Copin, Bruno;
- Bertrand, Anne-Marie;
- Brioude, Frederic;
- Larizza, Daniela;
- Edouard, Thomas;
- González Briceño, Laura;
- Netchine, Irène;
- Oliver-Petit, Isabelle;
- Sobrier, Marie-Laure;
- Amselem, Serge
Publication type:
journal article
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
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.
Published in:
Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01713-y
By:
- Mackay, Deborah J. G.;
- Gazdagh, Gabriella;
- Monk, David;
- Brioude, Frederic;
- Giabicani, Eloise;
- Krzyzewska, Izabela M.;
- Kalish, Jennifer M.;
- Maas, Saskia M.;
- Kagami, Masayo;
- Beygo, Jasmin;
- Kahre, Tiina;
- Tenorio-Castano, Jair;
- Ambrozaitytė, Laima;
- Burnytė, Birutė;
- Cerrato, Flavia;
- Davies, Justin H.;
- Ferrero, Giovanni Battista;
- Fjodorova, Olga;
- Manero-Azua, Africa;
- Pereda, Arrate
Publication type:
Article
HDR syndrome: Large cohort and systematic review.
Published in:
Clinical Genetics, 2024, v. 106, n. 5, p. 564, doi. 10.1111/cge.14583
By:
- Rive Le Gouard, Nicolas;
- Lafond‐Rive, Valentin;
- Jonard, Laurence;
- Loundon, Natalie;
- Achard, Sophie;
- Heidet, Laurence;
- Mosnier, Isabelle;
- Lyonnet, Stanislas;
- Brioude, Frederic;
- Serey Gaut, Margaux;
- Marlin, Sandrine
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
Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome.
Published in:
Hormone Research in Paediatrics, 2016, v. 86, n. 3, p. 206, doi. 10.1159/000446435
By:
- Brioude, Frederic;
- Nicolas, Carole;
- Marey, Isabelle;
- Gaillard, Stephan;
- Bernier, Michèle;
- Das Neves, Cristina;
- Le Bouc, Yves;
- Touraine, Philippe;
- Netchine, Irene
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
Comment on: Juvenile granulosa cell ovarian tumor in a child with Beckwith-Wiedemann syndrome.
Published in:
2017
By:
- Brioude, Frederic;
- Netchine, Irène;
- Netchine, Irène
Publication type:
Letter
Is Nephron Sparing Surgery Justified in Wilms Tumor With Beckwith-Wiedemann Syndrome or Isolated Hemihypertrophy?
Published in:
2016
By:
- Scalabre, Aurélien;
- Bergeron, Christophe;
- Brioude, Frederic;
- Dainese, Linda;
- Cropet, Claire;
- Coulomb L'hermine, Aurore;
- Pasqualini, Claudia;
- Auber, Frederic;
- Verschuur, Arnauld;
- Schleiermacher, Gudrun;
- Bouc, Yves;
- Audry, Georges;
- Irtan, Sabine
Publication type:
journal 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
Low Maternal DLK1 Levels at 26 Weeks Is Associated With Small for Gestational Age at Birth.
Published in:
Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.836731
By:
- Pham, Aurelie;
- Mitanchez, Delphine;
- Forhan, Anne;
- Perin, Laurence;
- Le Bouc, Yves;
- Brioude, Frederic;
- Sobrier, Marie-Laure;
- Heude, Barbara;
- Netchine, Irene
Publication type:
Article
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2033, doi. 10.1002/humu.23847
By:
- Cohen, Enzo;
- Belkacem, Sabrina;
- Fedala, Soumeya;
- Collot, Nathalie;
- Khallouf, Eliane;
- Dastot, Florence;
- Polak, Michel;
- Duquesnoy, Philippe;
- Brioude, Frederic;
- Rose, Sophie;
- Viot, Géraldine;
- Soleyan, Aude;
- Carel, Jean‐Claude;
- Sobrier, Marie‐Laure;
- Chanson, Philippe;
- Gatelais, Frédérique;
- Heinrichs, Claudine;
- Kaffel, Noureddine;
- Coutant, Regis;
- Savaş Erdeve, Şenay
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
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.
Published in:
Human Mutation, 2017, v. 38, n. 1, p. 105, doi. 10.1002/humu.23131
By:
- Abi Habib, Walid;
- Brioude, Frederic;
- Azzi, Salah;
- Salem, Jennifer;
- Das Neves, Cristina;
- Personnier, Claire;
- Chantot‐Bastaraud, Sandra;
- Keren, Boris;
- Bouc, Yves;
- Harbison, Madeleine D.;
- Netchine, Irene
Publication type:
Article
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
Published in:
Human Mutation, 2015, v. 36, n. 9, p. 894, doi. 10.1002/humu.22824
By:
- Brioude, Frederic;
- Netchine, Irène;
- Praz, Francoise;
- Jule, Marilyne;
- Calmel, Claire;
- Lacombe, Didier;
- Edery, Patrick;
- Catala, Martin;
- Odent, Sylvie;
- Isidor, Bertrand;
- Lyonnet, Stanislas;
- Sigaudy, Sabine;
- Leheup, Bruno;
- Audebert‐Bellanger, Séverine;
- Burglen, Lydie;
- Giuliano, Fabienne;
- Alessandri, Jean‐Luc;
- Cormier‐Daire, Valérie;
- Laffargue, Fanny;
- Blesson, Sophie
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

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