Risultati della ricerca - Irène Netchine

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  1. 1
    IGF2: Development, Genetic and Epigenetic Abnormalities

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

    Pubblicazione 2022
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  2. 2
    Extensive Phenotypic Analysis of a Family with Growth Hormone (GH) Deficiency Caused by a Mutation in the GH-Releasing Hormone Receptor Gene<sup>1</sup>

    Extensive Phenotypic Analysis of a Family with Growth Hormone (GH) Deficiency Caused by a Mutation in the GH-Releasing Hormone Receptor Gene<sup>1</sup> di Irène Netchine, Philippe Talon, Florence Dastot, F. Vitaux, Michel Goossens, Serge Amselem

    Pubblicazione 1998
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  3. 3
    Pituitary Stalk Interruption Syndrome: A Clinical-Biological-Genetic Assessment of Its Pathogenesis<sup>1</sup>

    Pituitary Stalk Interruption Syndrome: A Clinical-Biological-Genetic Assessment of Its Pathogenesis<sup>1</sup> di Graziella Pinto, Irène Netchine, Marie‐Laure Sobrier, Françis Brunelle, J.C. Souberbielle, Raja Brauner

    Pubblicazione 1997
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  4. 4
    Multilocus methylation defects in imprinting disorders

    Multilocus methylation defects in imprinting disorders di Deborah Mackay, Thomas Eggermann, Karin Buiting, Intza Garin, Irène Netchine, Agnès Linglart, Guiomar Pérez de Nanclares

    Pubblicazione 2015
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  5. 5
    A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

    A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome di Salah Azzi, Jennifer Ben Salem, Nathalie Thibaud, Sandra Chantot‐Bastaraud, Eli Lieber, Irène Netchine, Madeleine D. Harbison

    Pubblicazione 2015
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  6. 6
    Evidence for a Continuum of Genetic, Phenotypic, and Biochemical Abnormalities in Children with Growth Hormone Insensitivity

    Evidence for a Continuum of Genetic, Phenotypic, and Biochemical Abnormalities in Children with Growth Hormone Insensitivity di Alessia David, Vivian Hwa, Lou Metherell, Irène Netchine, Cecilia Camacho‐Hübner, Adrian Clark, Ron G. Rosenfeld, Martin O. Savage

    Pubblicazione 2011
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  7. 7
    Degree of methylation of<i>ZAC1</i>(<i>PLAGL1</i>) is associated with prenatal and post-natal growth in healthy infants of the EDEN mother child cohort

    Degree of methylation of<i>ZAC1</i>(<i>PLAGL1</i>) is associated with prenatal and post-natal growth in healthy infants of the EDEN mother child cohort di Salah Azzi, Theo Sas, Yves Akoli Koudou, Yves Le Bouc, Jean‐Claude Souberbielle, Patricia Dargent‐Molina, Irène Netchine, Marie‐Aline Charles

    Pubblicazione 2013
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  8. 8
    CHARGE Syndrome Includes Hypogonadotropic Hypogonadism and Abnormal Olfactory Bulb Development

    CHARGE Syndrome Includes Hypogonadotropic Hypogonadism and Abnormal Olfactory Bulb Development di Graziella Pinto, Véronique Abadie, Robin Mesnage, J. Blustajn, S Cabrol, Jeanne Amiel, Lucie Hertz‐Pannier, A.-M. Bertrand, Stanislas Lyonnet, Rebecca Rappaport, Irène Netchine

    Pubblicazione 2005
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  9. 9
    Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

    Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4 di Kalotina Machinis, Jacques Pantel, Irène Netchine, Juliane Léger, Olivier Camand, Marie‐Laure Sobrier, Florence Dastot‐Le Moal, Philippe Duquesnoy, Marc Abitbol, Paul Czernichow, Serge Amselem

    Pubblicazione 2001
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  10. 10
    Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with<i>IGF1</i>Mutation Demonstrates Its Critical Role in Growth and Brain Development

    Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with<i>IGF1</i>Mutation Demonstrates Its Critical Role in Growth and Brain Development di Irène Netchine, Salah Azzi, Muriel Houang, Danielle Seurin, Laurence Périn, Jean‐Marc Ricort, Claudine Daubas, Christine Legay, Ján Mešter, R. Herich, François Godeau, Yves Le Bouc

    Pubblicazione 2009
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  11. 11
    Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

    Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylatio... di Salah Azzi, Sylvie Rossignol, Virginie Steunou, Theo Sas, Nathalie Thibaud, Fabienne Danton, Maryline Le Jule, Claudine Heinrichs, Sylvie Cabrol, Christine Gicquel, Yves Le Bouc, Irène Netchine

    Pubblicazione 2009
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  12. 12
    Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

    Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci di Thomas Eggermann, Guiomar Pérez de Nanclares, Eamonn R. Maher, I. Karen Temple, Zeynep Tümer, David Monk, Deborah Mackay, Karen Grønskov, Andrea Riccio, Agnès Linglart, Irène Netchine

    Pubblicazione 2015
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  13. 13
    Recent Advances in Imprinting Disorders

    Recent Advances in Imprinting Disorders di Lukas Soellner, Matthias Begemann, Deborah Mackay, Karen Grønskov, Zeynep Tümer, Eamonn R. Maher, I. Karen Temple, David Monk, Andrea Riccio, Agnès Linglart, Irène Netchine, Thomas Eggermann

    Pubblicazione 2016
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  14. 14
    Transcriptional profiling at the <i>DLK1/MEG3</i> domain explains clinical overlap between imprinting disorders

    Transcriptional profiling at the <i>DLK1/MEG3</i> domain explains clinical overlap between imprinting disorders di Walid Abi Habib, Frédéric Brioude, Salah Azzi, Sylvie Rossignol, Agnès Linglart, Marie‐Laure Sobrier, Éloïse Giabicani, Virginie Steunou, Madeleine D. Harbison, Yves Le Bouc, Irène Netchine

    Pubblicazione 2019
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  15. 15
    Human Prop‐1: cloning, mapping, genomic structure

    Human Prop‐1: cloning, mapping, genomic structure di Philippe Duquesnoy, Anne Roy, Florence Dastot, Isis Ghali, Cécile Teinturier, Irène Netchine, Valère Cacheux, Mona Hafez, Nermine Salah, Jean‐Louis Chaussain, Michel Goossens, Pierre Bougnères, Serge Amselem

    Pubblicazione 1998
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  16. 16
    Clinical utility gene card for: Beckwith–Wiedemann Syndrome

    Clinical utility gene card for: Beckwith–Wiedemann Syndrome di Thomas Eggermann, Elizabeth M. Algar, Pablo Lapunzina, Deborah Mackay, Eamonn R. Maher, Marcel M.A.M. Mannens, Irène Netchine, Dirk Prawitt, Andrea Riccio, I. Karen Temple, Rosanna Weksberg

    Pubblicazione 2013
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  17. 17
    Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

    Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders di Julie Demars, Mansur E Shmela, Sylvie Rossignol, Jun Okabe, Irène Netchine, Salah Azzi, Sylvie Cabrol, Cédric Le Caignec, Albert David, Yves Le Bouc, Assam El‐Osta, Christine Gicquel

    Pubblicazione 2009
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  18. 18
    Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients with<i>GNAS</i>Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b

    Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients with<i>GNAS</i>Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation... di Stéphanie Maupetit‐Mehouas, Salah Azzi, Virginie Steunou, Nathalie Sakakini, Caroline Silve, Christelle Reynès, Guiomar Pérez de Nanclares, Boris Keren, Sandra Chantot‐Bastaraud, Anne Barlier, Agnès Linglart, Irène Netchine

    Pubblicazione 2013
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  19. 19
    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 di 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

    Pubblicazione 2017
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  20. 20
    SUN-090 Investigation of Imprinting Defects in MKRN3 and DLK1 in Children with Idiopathic Central Precocious Puberty Through Specific DNA Methylation Analysis

    SUN-090 Investigation of Imprinting Defects in MKRN3 and DLK1 in Children with Idiopathic Central Precocious Puberty Through Specific DNA Methylation Analysis di Ana Pinheiro-Machado Canton, Virginie Steunou, Marie‐Laure Sobrier, Luciana Ribeiro Montenegro, Danielle Bessa, Larissa Gomes, Alexander A.L. Jorge, Berenice B. Mendonça, Vinícius Nahime Brito, Irène Netchine, Ana Cláudia Latronico

    Pubblicazione 2020
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