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Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism.
Titeux M, Mendonça V, Décha A, Moreira E, Magina S, Maia A, Lacaze-Buzy L, Mejía JE, Torrão L, Carvalho F, Eça-Guimarães J, Hovnanian A. Titeux M, et al. Among authors: mejia je. J Invest Dermatol. 2009 Mar;129(3):776-9. doi: 10.1038/jid.2008.312. Epub 2008 Oct 9. J Invest Dermatol. 2009. PMID: 18843290 Free article. No abstract available.
A new case of keratin 14 functional knockout causes severe recessive EBS and questions the haploinsufficiency model of Naegeli-Franceschetti-Jadassohn syndrome.
Titeux M, Décha A, Pironon N, Tonasso L, Gasc G, Mejía JE, Prost-Squarcioni C, Hovnanian A. Titeux M, et al. Among authors: mejia je. J Invest Dermatol. 2011 Oct;131(10):2131-3. doi: 10.1038/jid.2011.166. Epub 2011 Jul 7. J Invest Dermatol. 2011. PMID: 21734713 Free article. No abstract available.
TLR7 escapes X chromosome inactivation in immune cells.
Souyris M, Cenac C, Azar P, Daviaud D, Canivet A, Grunenwald S, Pienkowski C, Chaumeil J, Mejía JE, Guéry JC. Souyris M, et al. Among authors: mejia je. Sci Immunol. 2018 Jan 26;3(19):eaap8855. doi: 10.1126/sciimmunol.aap8855. Sci Immunol. 2018. PMID: 29374079
33 results