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Fabien Magne
Fabien Magne
Centre Hospitalier Universitaire Sainte-Justine
Biology
Congenital hypothyroidism
Exome sequencing
Endocrinology
Internal medicine
6
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72
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Severe congenital hypothyroidism due to a novel deep intronic mutation in the TSH receptor gene causing intron retention
2020
Journal of the Endocrine Society
Stéphanie Larrivée-Vanier
Fabien Magne
Elwaseila Hamdoun
Anna Petryk
Zoha Kibar
Guy Van Vliet
Johnny Deladoëy
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Enrichment of Inherited Rare Variants in Non-Syndromic Congenital Hypothyroidism from Thyroid Dysgenesis Identified By Exome Sequencing: the Contribution of IKBKE to Vasculogenesis and Thyroid Development
2018
Stéphanie Larrivée-Vanier
Fabien Magne
Martineau Jean-Louis
Aurore Carré
Helen Bui
Mark E. Samuels
Michel Polak
Vliet Guy Van
Johnny Deladoëy
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Somatic Mutations Are Not Observed by Exome Sequencing of Lymphocyte DNA from Monozygotic Twins Discordant for Congenital Hypothyroidism due to Thyroid Dysgenesis
2015
Hormone Research in Paediatrics
Fabien Magne
Roman Serpa
Guy Van Vliet
Mark E. Samuels
Johnny Deladoëy
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Conserved Telomere Length in Human Ectopic Thyroids: An Argument Against Premature Differentiation Causing Arrested Migration.
2015
Thyroid
Stéphanie Larrivée-Vanier
Fabien Magne
Natalie Patey
Jean-Pierre Chanoine
Jean-Marc Vuissoz
Guy Van Vliet
Johnny Deladoëy
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Role for Tissue-Dependent Methylation Differences in the Expression of FOXE1 in Nontumoral Thyroid Glands
2014
The Journal of Clinical Endocrinology and Metabolism
Rasha Abu-Khudir
Fabien Magne
Jean-Pierre Chanoine
Cheri Deal
Guy Van Vliet
Johnny Deladoëy
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Citations (12)
1