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Small Molecule Inhibitors of Interferon-Induced JAK-STAT Signalling.
Thoidingjam LK, Blouin CM, Gaillet C, Brion A, Solier S, Niyomchon S, El Marjou A, Mouasni S, Sepulveda FE, de Saint Basile G, Lamaze C, Rodriguez R. Thoidingjam LK, et al. Among authors: de saint basile g. Angew Chem Int Ed Engl. 2022 Aug 8;61(32):e202205231. doi: 10.1002/anie.202205231. Epub 2022 Jun 14. Angew Chem Int Ed Engl. 2022. PMID: 35612562 Free PMC article.
Ichthyosis as the dermatological phenotype associated with TTC7A mutations.
Leclerc-Mercier S, Lemoine R, Bigorgne AE, Sepulveda F, Leveau C, Fischer A, Mahlaoui N, Hadj-Rabia S, de Saint Basile G. Leclerc-Mercier S, et al. Among authors: de saint basile g. Br J Dermatol. 2016 Nov;175(5):1061-1064. doi: 10.1111/bjd.14644. Epub 2016 Aug 31. Br J Dermatol. 2016. PMID: 27059536 No abstract available.
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.
Grandin V, Sepulveda FE, Lambert N, Al Zahrani M, Al Idrissi E, Al-Mousa H, Almanjomi F, Al-Ghonaium A, K Habazi M, A Alghamdi H, Picard C, Bole-Feysot C, Nitschke P, Ménasché G, de Saint Basile G. Grandin V, et al. Among authors: de saint basile g. Hum Mutat. 2017 Oct;38(10):1355-1359. doi: 10.1002/humu.23274. Epub 2017 Jun 19. Hum Mutat. 2017. PMID: 28585352
230 results