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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2024
X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigationAlexandre Buffet, Mathilde Filser, Alexandra Bruel, et al.Cancer Cell|May 28, 2013
SDH mutations establish a hypermethylator phenotype in paragangliomaEric Letouzé, Cosimo Martinelli, Céline Loriot, et al.Journal of Medical Genetics|March 17, 2019
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paragangliomaLaurène Ben Aim, Pascal Pigny, Luis Jaime Castro-Vega, et al.Clinical Endocrinology|April 30, 2020
Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patientsCéline Mouly, Rosa Vargas-Poussou, Anne Lienhardt, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|October 11, 2018
Telomerase Activation and ATRX Mutations Are Independent Risk Factors for Metastatic Pheochromocytoma and ParagangliomaSylvie Job, Irena Draskovic, Nelly Burnichon, et al.Cancer Research|February 13, 2018
Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier <i>SLC25A11</i> Gene Confer a Predisposition to Metastatic ParagangliomasAlexandre Buffet, Aurélie Morin, Luis-Jaime Castro-Vega, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|October 23, 2015
In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in ParagangliomaCharlotte Lussey-Lepoutre, Alexandre Bellucci, Aurélie Morin, et al.Nature Communications|January 28, 2015
Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomasLuis Jaime Castro-Vega, Eric Letouzé, Nelly Burnichon, et al.Journal of Medical Genetics|June 19, 2016
<i>SETD2</i> and <i>DNMT3A</i> screen in the Sotos-like syndrome French cohortCamille Tlemsani, Armelle Luscan, Nicolas Leulliot, et al.Annales D'Endocrinologie|July 7, 2014
p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?Cecile Nozières, Chang-Xian Zhang, Alexandre Buffet, et al.Pageof 6