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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 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.
Journal articles
hal-01319105v1
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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.
Journal articles
hal-03215322v1
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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.
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
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.
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.
Journal articles
hal-03629998v1
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Congenital imprinting disorders: EUCID.net -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.
Journal articles
hal-01133017v1
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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 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.
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.
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
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.
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.
Journal articles
hal-01737991v1
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Normal Growth despite Combined Pituitary Hormone Deficiency
Mohamed El Kholy
,
Heba Elsedfy
,
Laurence Perin
,
Walid Abi Habid
,
Nathalie Thibaud
,
et al.
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.
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
Journal articles
hal-03711849v1
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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.
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 articles
hal-02435128v1
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