Author: "Janot C" / Journal: annales d'endocrinologie - Searchworks@Jio Institute Digital Library Search Results

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Start Over Author "Janot C" Journal annales d'endocrinologie

Author: Lefevre, E., primary, Chasseloup, F., additional, Ladurelle, N., additional, Janot, C., additional, Viengchareun, S., additional, Chanson, P., additional, Philippe, Z., additional, and Kamenicky, P., additional
Published: 2023
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Author: Janot, C., primary, Ladjouze, A., additional, Choron, K., additional, Teoli, J., additional, Plotton, I., additional, Mallet, D., additional, and Roucher-Boulez, F., additional
Published: 2022
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Author: Janot, C., primary, Ladurelle, N., additional, Chasseloup, F., additional, Viengchareun, S., additional, Chanson, P., additional, Amazit, L., additional, and Kamenický, P., additional
Published: 2021
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Author: Mignot, T., primary, Chasseloup, F., additional, Janot, C., additional, Ladurelle, N., additional, Viengchareun, S., additional, Chanson, P., additional, Zizzari, P., additional, and Kamenický, P., additional
Published: 2021
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Author: Janot, C., Mallet, D., Brac-De-La-Perrière, A., Bertherat, J., Brioude, F., Cartault, A., Daval-Cote, M., Espiard, S., Houang, M., Lefebvre, H., Martinerie, L., Mayer, A., Mazoyer, H., Pienkowski, C., Ribault, V., Morel, Y., Plotton, I., and Roucher-Boulez, F.
Abstract: Le déficit en 11β-hydroxylase (11OHD) est due à des mutations du gène CYP11B1. L’augmentation pathognomonique de 11-desoxycortisol plasmatique confirme le diagnostic. Pourtant, des mutations de CYP11B1 ne sont pas toujours retrouvées dans notre cohorte. Cette étude rétrospective décrit et confirme le caractère pathogène d’un variant d’épissage inédit, et étudie la corrélation phénotype-génotype.
Published: 2024
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