検索結果 - Frédéric Brioude

  • 検索結果 1 - 15 結果 / 15
結果の絞り込み
  1. 1
    IGF2: Development, Genetic and Epigenetic Abnormalities

    IGF2: Development, Genetic and Epigenetic Abnormalities 著者: Céline Sélénou, Frédéric Brioude, Éloïse Giabicani, Marie‐Laure Sobrier, Irène Netchine

    出版事項 2022
    全文の入手 全文の入手
    Revisão
    お気に入りに追加
    保存先:
  2. 2
    Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype–phenotype relationships

    Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype–phenotype relationships 著者: Frédéric Brioude, Jérôme Bouligand, Séverine Trabado, Bruno Francou, Sylvie Salenave, Peter Kamenický, Sylvie Brailly‐Tabard, Philippe Chanson, Anne Guiochon‐Mantel, Jacques Young

    出版事項 2010
    全文の入手 全文の入手
    Revisão
    お気に入りに追加
    保存先:
  3. 3
    Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction

    Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction 著者: Walid Abi Habib, Frédéric Brioude, Thomas Édouard, James T. Bennett, Anne Lienhardt-Roussie, Frédérique Tixier, Jennifer Ben Salem, Tony Yuen, Salah Azzi, Yves Le Bouc, Madeleine D. Harbison, Irène Netchine

    出版事項 2017
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  4. 4
    SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

    SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development 著者: Jacques Young, Corinne Métay, Jérôme Bouligand, Bassim Tou, Bruno Francou, Luigi Maione, Lucie Tosca, Julie Sarfati, Frédéric Brioude, Blandine Esteva, Audrey Briand‐Suleau, Sophie Brisset, Michel Goossens, Gérard Tachdjian, Anne Guiochon‐Mantel

    出版事項 2012
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  5. 5
    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

    Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann s... 著者: Walid Abi Habib, Salah Azzi, Frédéric Brioude, Virginie Steunou, Nathalie Thibaud, Cristina Das Neves, Marilyne Le Jule, Sandra Chantot‐Bastaraud, Boris Keren, Stanislas Lyonnet, Caroline Michot, Massimiliano Rossi, Laurent Pasquier, Christine Gicquel, Sylvie Rossignol, Yves Le Bouc, Irène Netchine

    出版事項 2014
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  6. 6
    Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

    Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences 著者: Solveig Heide, Sandra Chantot‐Bastaraud, Boris Keren, Madeleine D. Harbison, Salah Azzi, Sylvie Rossignol, Caroline Michot, Marilyn Lackmy-Port Lys, Bénédicte Demeer, Claudine Heinrichs, Ron S. Newfield, Pierre Sarda, Lionel Van Maldergem, Véronique Trifard, Éloïse Giabicani, Jean‐Pierre Siffroi, Yves Le Bouc, Irène Netchine, Frédéric Brioude

    出版事項 2017
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  7. 7
    Nomenclature and definition in asymmetric regional body overgrowth

    Nomenclature and definition in asymmetric regional body overgrowth 著者: Jennifer M. Kalish, Leslie G. Biesecker, Frédéric Brioude, Matthew A. Deardorff, Alessandra Di Cesare‐Merlone, Todd E. Druley, Giovanni Battista Ferrero, Pablo Lapunzina, Lidia Larizza, Saskia M. Maas, Marina Macchiaiolo, Eamonn R. Maher, Silvia Maitz, Julian A. Martínez‐Agosto, Alessandro Mussa, Peter N. Robinson, Silvia Russo, Angelo Selicorni, Raoul C. M. Hennekam

    出版事項 2017
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  8. 8
    EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

    EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome 著者: Katja Eggermann, Jet Bliek, Frédéric Brioude, Elizabeth M. Algar, Karin Buiting, Silvia Russo, Zeynep Tümer, David Monk, Gudrun E. Moore, Thalia Antoniadi, Fiona MacDonald, Irène Netchine, Paolo Lombardi, Lukas Soellner, Matthias Begemann, Dirk Prawitt, Eamonn R. Maher, Marcel M.A.M. Mannens, Andrea Riccio, Rosanna Weksberg, Pablo Lapunzina, Karen Grønskov, Deborah Mackay, Thomas Eggermann

    出版事項 2016
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  9. 9
    Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

    Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling 著者: Thomas Eggermann, Frédéric Brioude, Silvia Russo, Maria Lombardi, Jet Bliek, Eamonn R. Maher, Lidia Larizza, Dirk Prawitt, Irène Netchine, Marie Gonzalès, Karen Grønskov, Zeynep Tümer, David Monk, M. Mannens, Krystyńa Chrzańowska, Malgorzata Krajewska Walasek, Matthias Begemann, Lukas Soellner, Katja Eggermann, Jair Tenorio, Julián Nevado, Gudrun E. Moore, Deborah Mackay, I. Karen Temple, Gabriele Gillessen‐Kaesbach, Tsutomu Ogata, Rosanna Weksberg, Elizabeth M. Algar, Pablo Lapunzina

    出版事項 2015
    全文の入手
    Revisão
    お気に入りに追加
    保存先:
  10. 10
    Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

    Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization 著者: Frédéric Brioude, Irène Netchine, Françoise Praz, Marilyne Le Jule, Claire Calmel, Didier Lacombe, Patrick Edery, Martin Catala, Sylvie Odent, Bertrand Isidor, Stanislas Lyonnet, Sabine Sigaudy, Bruno Leheup, Séverine Audebert‐Bellanger, Lydie Bürglen, Fabienne Giuliano, Jean‐Luc Alessandri, Valérie Cormier‐Daire, Fanny Laffargue, Sophie Blesson, Isabelle Coupier, James Lespinasse, Patricia Blanchet, Odile Boute, Clarisse Baumann, Michel Polak, Bérénice Doray, Alain Verloès, Géraldine Viot, Yves Le Bouc, Sylvie Rossignol

    出版事項 2015
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  11. 11
    First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

    First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders 著者: Deborah Mackay, Jet Bliek, Masayo Kagami, Jair Tenorio, Arrate Pereda, Frédéric Brioude, Irène Netchine, Dzhoy Papingi, Elisa De Franco, Margaret Lever, Julie Sillibourne, Paola Lombardi, Véronique Gaston, Maïthé Tauber, Gwénaëlle Diene, Éric Bieth, Luis Carlos Sainz Fernandez, Julián Nevado, Zeynep Tümer, Andrea Riccio, Eamonn R. Maher, Jasmin Beygo, Pierpaola Tannorella, Silvia Russo, Guiomar Pérez de Nanclares, I. Karen Temple, Tsutomu Ogata, Pablo Lapunzina, Thomas Eggermann

    出版事項 2022
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  12. 12
    Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

    Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome 著者: Sophie Geoffron, Walid Abi Habib, Sandra Chantot‐Bastaraud, B. Dubern, Virginie Steunou, Salah Azzi, Alexandra Afenjar, Tiffany Busa, Ana Pinheiro Machado Canton, Christel Chalouhi, Marie‐Noëlle Dufourg, Blandine Esteva, Mélanie Fradin, David Geneviève, Solveig Heide, Bertrand Isidor, Agnès Linglart, Fanny Morice Picard, Catherine Naud-Saudreau, Isabelle Petit, Nicole Philip, Catherine Pienkowski, Marlène Rio, Sylvie Rossignol, Maïthé Tauber, Julien Thévenon, Thuy-Ai Vu-Hong, Madeleine D. Harbison, Jennifer Ben Salem, Frédéric Brioude, Irène Netchine, Éloïse Giabicani

    出版事項 2018
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  13. 13
    Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

    Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis 著者: Deborah Mackay, Gabriella Gazdagh, David Monk, Frédéric Brioude, Éloïse Giabicani, I. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, África Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, I. Karen Temple, Katrin Õunap, Andrea Riccio, Guiomar Pérez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer

    出版事項 2024
    全文の入手
    Revisão
    お気に入りに追加
    保存先:
  14. 14
    Diagnosis and management of Silver–Russell syndrome: first international consensus statement

    Diagnosis and management of Silver–Russell syndrome: first international consensus statement 著者: Emma Wakeling, Frédéric Brioude, Oluwakemi Lokulo‐Sodipe, Susan O’Çonnell, Jennifer Ben Salem, Jet Bliek, Ana Pinheiro Machado Canton, Krystyńa Chrzańowska, Justin H. Davies, Renuka Dias, B. Dubern, Miriam Elbracht, Éloïse Giabicani, Adda Grimberg, Karen Grønskov, Anita C. S. Hokken‐Koelega, Alexander A.L. Jorge, Masayo Kagami, Agnès Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E. Moore, Philip Murray, Tsutomu Ogata, Isabelle Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tümer, Gerhard Binder, Thomas Eggermann, Madeleine D. Harbison, I. Karen Temple, Deborah Mackay, Irène Netchine

    出版事項 2016
    全文の入手
    Revisão
    お気に入りに追加
    保存先:
  15. 15
    Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

    Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement 著者: Frédéric Brioude, Jennifer M. Kalish, Alessandro Mussa, Alison Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E. Boonen, Trevor Cole, Robert J. Baker, Monica Bertoletti, Guido Cocchi, Carole Coze, Maurizio De Pellegrin, Khalid Hussain, Abdulla Ibrahim, Mark D. Kilby, Małgorzata Krajewska‐Walasek, Christian P. Kratz, E J Ladusans, Pablo Lapunzina, Yves Le Bouc, Saskia M. Maas, Fiona MacDonald, Katrin Õunap, Licia Peruzzi, Sylvie Rossignol, Silvia Russo, Caroleen Shipster, Agata Skórka, Katrina Tatton‐Brown, Jair Tenorio, Chiara Tortora, Karen Grønskov, Irène Netchine, Raoul C. M. Hennekam, Dirk Prawitt, Zeynep Tümer, Thomas Eggermann, Deborah Mackay, Andrea Riccio, Eamonn R. Maher

    出版事項 2018
    全文の入手 全文の入手
    Revisão
    お気に入りに追加
    保存先:

検索ツール: