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authFullName_s : Irène Netchine
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A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

Salah Azzi , Jennifer Salem , Nathalie Thibaud , Sandra Chantot-Bastaraud , Eli Lieber , et al.
Journal of Medical Genetics, 2015, 52 (7), pp.446-453. ⟨10.1136/jmedgenet-2014-102979⟩
Journal articles hal-01293084v1
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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

Katja Eggermann , Jet Bliek , Frédéric Brioude , Elizabeth Algar , Karin Buiting , et al.
European Journal of Human Genetics, 2016, ⟨10.1038/ejhg.2016.45⟩
Journal articles hal-01319105v1

National cohort on imprinting disorders and their metabolic consequences (RaDiCo-IDMet)

Eve Klising-Sireul , Radico Team , Irène Netchine , Agnès Linglart , Laure Jamot
4th ID school of the Imprinting disorder network, Mar 2017, Behoust, France
Conference papers inserm-04059036v1
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Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network

Thomas Eggermann , Justin H Davies , Maithé Tauber , Erica van den Akker , Anita Hokken-Koelega , et al.
Genes, 2021, 12 (4), pp.585. ⟨10.3390/genes12040585⟩
Journal articles hal-03215322v1

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature

Marie-Laure Vuillaume , Marie-Pierre Moizard , Sylvie Rossignol , Edouard Cottereau , Sandrine Vonwill , et al.
Human Mutation, 2018, 39 (6), pp.790-805. ⟨10.1002/humu.23428⟩
Journal articles hal-02393015v1
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New Horizons in Short Children Born Small for Gestational Age

Irène Netchine , Manouk van Der Steen , Abel López-Bermejo , Ekaterina Koledova , Mohamad Maghnie
Frontiers in Pediatrics, 2021, 9, pp.655931. ⟨10.3389/fped.2021.655931⟩
Journal articles hal-03244959v1
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New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

Julie Demars , Sylvie Rossignol , Irène Netchine , Kai Syin Lee , Mansur Shmela , et al.
Human Mutation, 2011, 32 (10), pp.1171-82. ⟨10.1002/humu.21558⟩
Journal articles inserm-00610827v1
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Quality of life and mental health of adolescents and adults with Silver-Russell syndrome

Mélissa Burgevin , Agnès Lacroix , Karine Bourdet , Régis Coutant , Bruno Donadille , et al.
European Journal of Medical Genetics, 2022, 65 (5), pp.104482. ⟨10.1016/j.ejmg.2022.104482⟩
Journal articles hal-03629998v1
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Congenital imprinting disorders: -a network to decipher their aetiology and to improve the diagnostic and clinical care

Thomas Eggermann , Irène Netchine , I Karen Temple , Zeynep Tümer , David Monk , et al.
Clinical Epigenetics, 2015, 7 (23), pp.1-10. ⟨10.1186/s13148-015-0050-z⟩
Journal articles hal-01133017v1

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients

Enzo Cohen , Mohamad Maghnie , Nathalie Collot , Juliane Leger , Florence Dastot , et al.
Journal of Clinical Endocrinology and Metabolism, 2017, 102 (1), pp.290-301. ⟨10.1210/jc.2016-3158⟩
Journal articles inserm-03837720v1
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Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

Elodie Fiot , Bertille Alauze , Bruno Donadille , Dinane Samara-Boustani , Muriel Houang , et al.
Orphanet Journal of Rare Diseases, 2022, 17 (S1), pp.261. ⟨10.1186/s13023-022-02423-5⟩
Journal articles inserm-04031866v1
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Clinical and Preliminary Molecular Description of a Cohort of Patients with Growth Retardation due to Severe Primary IGF1 Deficiency (GROWPATI Study)

Athanasia Stoupa , Magali Viaud , Isabelle Flechtner , Graziella Pinto , Dinane Samara-Boustani , et al.
European Society for Paediatric Endocrinology, Sep 2018, Athens, Greece, Greece. ⟨10.3252/⟩
Conference poster inserm-03956401v1
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Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit

Bruno Donadille , Muriel Houang , Irène Netchine , Jean-Pierre Siffroi , Sophie Christin-Maitre
Endocrine Connections, 2018, 7 (3), pp.395-402. ⟨10.1530/EC-17-0306⟩
Journal articles inserm-03867576v1
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Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives

Danielle Christine Maria van der Kaay , Anne Rochtus , Gerhard Binder , Ingo Kurth , Dirk Prawitt , et al.
Endocrine Connections, 2022, 11 (11), ⟨10.1530/EC-22-0277⟩
Journal articles hal-04026973v1
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Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction

Walid Abi Habib , Frédéric Brioude , Thomas Edouard , James T. Bennett , Anne Lienhardt-Roussie , et al.
Genetics in Medicine, 2018, 20 (2), pp.250-258. ⟨10.1038/gim.2017.105⟩
Journal articles hal-01737991v1

Normal Growth despite Combined Pituitary Hormone Deficiency

Mohamed El Kholy , Heba Elsedfy , Laurence Perin , Walid Abi Habid , Nathalie Thibaud , et al.
Hormone Research in Paediatrics, 2020, 92 (2), pp.133-142. ⟨10.1159/000499318⟩
Journal articles inserm-04032061v1
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Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Thomas Eggermann , Guiomar Perez de Nanclares , Eamonn R. Maher , I. Karen Temple , Zeynep Tümer , et al.
Clinical Epigenetics, 2015, 7 (1), pp.123. ⟨10.1186/s13148-015-0143-8⟩
Journal articles hal-01231437v1
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IGF2: Development, Genetic and Epigenetic Abnormalities

Céline Sélénou , Frédéric Brioude , Eloïse Giabicani , Marie-Laure Sobrier , Irène Netchine
Cells, 2022, 11 (12), pp.1886. ⟨10.3390/cells11121886⟩
Journal articles hal-03711849v1

Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism

Nabila Fritez , Marie-Laure Sobrier , Hinde Iraqi , Marie-Pierre Vié-Luton , Irène Netchine , et al.
Clinical Endocrinology, 2015, 82 (6), pp.876-884. ⟨10.1111/cen.12706⟩
Journal articles istex hal-03884719v1
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Increasing knowledge in IGF1R defects: lessons from 35 new patients

Eloïse Giabicani , Marjolaine Willems , Virginie Steunou , Sandra Chantot-Bastaraud , Nathalie Thibaud , et al.
Journal of Medical Genetics, In press, ⟨10.1136/jmedgenet-2019-106328⟩
Journal articles hal-02435128v1