Increasing knowledge in IGF1R defects: lessons from 35 new patients

Eloïse Giabicani; Marjolaine Willems; Virginie Steunou; Sandra Chantot-Bastaraud; Nathalie Thibaud; Walid Abi Habib; Salah Azzi; Bich Lam; Laurence Bérard; Hélène Bony-Trifunovic; Cécile Brachet; Elise Brischoux-Boucher; Emmanuelle Caldagues; Regis Coutant; Marie-Laure Cuvelier; Georges Gelwane; Isabelle Guemas; Muriel Houang; Bertrand Isidor; Claire Jeandel; James Lespinasse; Catherine Naud-Saudreau; Monique Jesuran-Perelroizen; Laurence Perrin; Juliette Piard; Claire Sechter; Pierre-François Souchon; Caroline Storey; Domitille Thomas; Yves Le Bouc; Sylvie Rossignol; Irène Netchine; Frédéric Brioude

doi:10.1136/jmedgenet-2019-106328

Article info

Diagnostics

Original research

Increasing knowledge in IGF1R defects: lessons from 35 new patients

Authors

Eloïse Giabicani Sorbonne Université, UFR Médecine, Paris, France AP-HP, Hôpital Armand Trousseau—Explorations Fonctionnelles Endocriniennes, Paris, France INSERM, Centre de Recherche Saint-Antoine, Paris, France PubMed articles Google scholar articles
Marjolaine Willems CHU Montpellier, Génétique Médicale, Montpellier, France PubMed articles Google scholar articles
Virginie Steunou INSERM, Centre de Recherche Saint-Antoine, Paris, France PubMed articles Google scholar articles
Sandra Chantot-Bastaraud AP-HP, Hôpital Armand Trousseau—Génétique Chromosomique, Paris, France PubMed articles Google scholar articles
Nathalie Thibaud AP-HP, Hôpital Armand Trousseau—Explorations Fonctionnelles Endocriniennes, Paris, France PubMed articles Google scholar articles
Walid Abi Habib INSERM, Centre de Recherche Saint-Antoine, Paris, France PubMed articles Google scholar articles
Salah Azzi INSERM, Centre de Recherche Saint-Antoine, Paris, France PubMed articles Google scholar articles
Bich Lam INSERM, Centre de Recherche Saint-Antoine, Paris, France PubMed articles Google scholar articles
Laurence Bérard AP-HP, Hôpital Armand Trousseau—Explorations Fonctionnelles Endocriniennes, Paris, France PubMed articles Google scholar articles
Hélène Bony-Trifunovic CHU Amiens-Picardie, Médecine Pédiatrique et Médecine de l'Adolescent, Amiens, France PubMed articles Google scholar articles
Cécile Brachet U.L.B., Pediatric Endocrinology, Reine Fabiola Children's Hospital, Brussels, Belgium PubMed articles Google scholar articles
Elise Brischoux-Boucher Université de Franche-Comté, CHU Besançon, Centre de Génétique Humaine, Besançon, France PubMed articles Google scholar articles
Emmanuelle Caldagues CHU Nantes, Médecine Pédiatrique, Nantes, France PubMed articles Google scholar articles
Regis Coutant CHU Angers, Endocrinologie et Diabétologie Pédiatriques, Angers, France PubMed articles Google scholar articles
Marie-Laure Cuvelier CH de Calais, Pédiatrie, Calais, France PubMed articles Google scholar articles
Georges Gelwane AP-HP, Hôpital Robert Debré, Endocrinologie et Diabétologie Pédiatriques, Paris, France Université Paris Diderot, Hôpital Robert Debré, Paris, France PubMed articles Google scholar articles
Isabelle Guemas CHU Nantes, Médecine Pédiatrique, Nantes, France PubMed articles Google scholar articles
Muriel Houang Sorbonne Université, UFR Médecine, Paris, France AP-HP, Hôpital Armand Trousseau—Explorations Fonctionnelles Endocriniennes, Paris, France INSERM, Centre de Recherche Saint-Antoine, Paris, France PubMed articles Google scholar articles
Bertrand Isidor CHU Nantes, Génétique Médicale, Nantes, France PubMed articles Google scholar articles
Claire Jeandel CHRU Montpellier Pôle Mère et enfant, Pédiatrie Spécialisée Endocrinologie Gynécologie de l’Enfant et de l’Adolescent, Montpellier, France PubMed articles Google scholar articles
James Lespinasse CH-Chambéry, Génétique Chromosomique, Chambéry, France PubMed articles Google scholar articles
Catherine Naud-Saudreau CH Bretagne Sud, Endocrinologie et Diabétologie Pédiatriques, Lorient, France PubMed articles Google scholar articles
Monique Jesuran-Perelroizen Endocrinologie-pédiatrique, Cabinet libéral, Toulouse, France AFPEL, Association Française des Pédiatres Endocrinologues Libéraux, Lille, France PubMed articles Google scholar articles
Laurence Perrin Université Paris Diderot, Hôpital Robert Debré, Paris, France AP-HP, Hôpital Robert Debré, Génétique Clinique, Paris, France PubMed articles Google scholar articles
Juliette Piard Université de Franche-Comté, CHU Besançon, Centre de Génétique Humaine, Besançon, France PubMed articles Google scholar articles
Claire Sechter Université de Franche-Comté, CHU Jean Minjoz, Unité d’Endocrinologie et Diabétologie Pédiatriques, Besançon, France PubMed articles Google scholar articles
Pierre-François Souchon American Memorial Hospital, Diabétologie et Endocrinologie Pédiatriques, CHU Reims, Reims, France PubMed articles Google scholar articles
Caroline Storey AP-HP, Hôpital Robert Debré, Endocrinologie et Diabétologie Pédiatriques, Paris, France Université Paris Diderot, Hôpital Robert Debré, Paris, France PubMed articles Google scholar articles
Domitille Thomas INSERM, Centre de Recherche Saint-Antoine, Paris, France PubMed articles Google scholar articles
Yves Le Bouc Sorbonne Université, UFR Médecine, Paris, France INSERM, Centre de Recherche Saint-Antoine, Paris, France PubMed articles Google scholar articles
Sylvie Rossignol Hopitaux universitaires de Strasbourg, Service de Pédiatrie 1, Strasbourg, France INSERM U1112, Institut de Génétique Médicale d’Alsace, Laboratoire de Génétique Médicale, Strasbourg, France PubMed articles Google scholar articles
Irène Netchine Sorbonne Université, UFR Médecine, Paris, France AP-HP, Hôpital Armand Trousseau—Explorations Fonctionnelles Endocriniennes, Paris, France INSERM, Centre de Recherche Saint-Antoine, Paris, France PubMed articles Google scholar articles
Frédéric Brioude Sorbonne Université, UFR Médecine, Paris, France AP-HP, Hôpital Armand Trousseau—Explorations Fonctionnelles Endocriniennes, Paris, France INSERM, Centre de Recherche Saint-Antoine, Paris, France PubMed articles Google scholar articles

Correspondence to Dr Eloïse Giabicani, Centre de Recherche Saint-Antoine, Sorbonne Université, Paris 75000, France; eloise.giabicani{at}aphp.fr

View Full Text

Citation

Giabicani E, Willems M, Steunou V, et al

Increasing knowledge in IGF1R defects: lessons from 35 new patients

Journal of Medical Genetics 2020;57:160-168.

Publication history

Received May 29, 2019
Revised August 6, 2019
Accepted August 24, 2019
First published October 5, 2019.

Online issue publication

February 20, 2020

Article Versions

Previous version (20 February 2020).
You are viewing the most recent version of this article.

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Main menu

Authors

Citation

Publication history

Article Versions

Request permissions

Copyright information

Log in using your username and password

Main menu

Log in using your username and password

You are here

Authors

Citation

Publication history

Article Versions

Request permissions

Copyright information

Read the full text or download the PDF:

Log in using your username and password