検索結果 - Irène Netchine

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  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
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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> 著者: Irène Netchine, Philippe Talon, Florence Dastot, F. Vitaux, Michel Goossens, Serge Amselem

    出版事項 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> 著者: Graziella Pinto, Irène Netchine, Marie‐Laure Sobrier, Françis Brunelle, J.C. Souberbielle, Raja Brauner

    出版事項 1997
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  4. 4
    Multilocus methylation defects in imprinting disorders

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

    出版事項 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 著者: Salah Azzi, Jennifer Ben Salem, Nathalie Thibaud, Sandra Chantot‐Bastaraud, Eli Lieber, Irène Netchine, Madeleine D. Harbison

    出版事項 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 著者: Alessia David, Vivian Hwa, Lou Metherell, Irène Netchine, Cecilia Camacho‐Hübner, Adrian Clark, Ron G. Rosenfeld, Martin O. Savage

    出版事項 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 著者: Salah Azzi, Theo Sas, Yves Akoli Koudou, Yves Le Bouc, Jean‐Claude Souberbielle, Patricia Dargent‐Molina, Irène Netchine, Marie‐Aline Charles

    出版事項 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 著者: Graziella Pinto, Véronique Abadie, Robin Mesnage, J. Blustajn, S Cabrol, Jeanne Amiel, Lucie Hertz‐Pannier, A.-M. Bertrand, Stanislas Lyonnet, Rebecca Rappaport, Irène Netchine

    出版事項 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 著者: 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

    出版事項 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 著者: 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

    出版事項 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... 著者: 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

    出版事項 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 著者: 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

    出版事項 2015
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  13. 13
    Recent Advances in Imprinting Disorders

    Recent Advances in Imprinting Disorders 著者: 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

    出版事項 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 著者: 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

    出版事項 2019
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  15. 15
    Human Prop‐1: cloning, mapping, genomic structure

    Human Prop‐1: cloning, mapping, genomic structure 著者: 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

    出版事項 1998
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  16. 16
    Clinical utility gene card for: Beckwith–Wiedemann Syndrome

    Clinical utility gene card for: Beckwith–Wiedemann Syndrome 著者: 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

    出版事項 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 著者: 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

    出版事項 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... 著者: 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

    出版事項 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 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
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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 著者: 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

    出版事項 2020
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