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Endocrine|May 17, 2021
A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular featuresLauriane Le Collen, Sara Barraud, Antoine Braconnier, et al.
Endocrine Connections|September 16, 2022
Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicismsArnaud Lagarde, Grégory Mougel, Lucie Coppin, et al.
American Journal of Human Genetics|November 19, 2024
Monoallelic pathogenic variants in LEPR do not cause obesityJérôme Delplanque, Lauriane Le Collen, Hélène Loiselle, et al.
Endocrine-Related Cancer|November 30, 2022
SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?Francesca Branzoli, Betty Salgues, Małgorzata Marjańska, et al.
Orphanet Journal of Rare Diseases|March 1, 2022
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasisLauriane Le Collen, Brigitte Delemer, Marta Spodenkiewicz, et al.
European Journal of Endocrinology|February 24, 2025
Rare ZMPSTE24 variants increase risk of hypertriglyceridemia and metabolic syndromeLauriane Le Collen, Camille Desgrouas, Céline Lukas Croisier, et al.
European Journal of Endocrinology|May 6, 2022
Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?Lucie Coppin, Sophie Giraud, Eric Pasmant, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist useLauriane Le Collen, Brigitte Delemer, Christine Poitou, et al.
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