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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. 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.
Live rubella virus vaccine long-term persistence as an antigenic trigger of cutaneous granulomas in patients with primary immunodeficiency.
Bodemer C, Sauvage V, Mahlaoui N, Cheval J, Couderc T, Leclerc-Mercier S, Debré M, Pellier I, Gagnieur L, Fraitag S, Fischer A, Blanche S, Lecuit M, Eloit M. Bodemer C, et al. Clin Microbiol Infect. 2014 Oct;20(10):O656-63. doi: 10.1111/1469-0691.12573. Epub 2014 Mar 5. Clin Microbiol Infect. 2014. PMID: 24476349 Free article.
Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation.
Leclerc-Mercier S, Dufernez F, Fraitag S, Coulombe J, Dompmartin A, Barreau M, Bozon D, Lamazière A, Bonnefont JP, Khalifa E, Bodemer C, Hadj-Rabia S. Leclerc-Mercier S, et al. Br J Dermatol. 2015 Nov;173(5):1316-8. doi: 10.1111/bjd.13948. Epub 2015 Oct 5. Br J Dermatol. 2015. PMID: 26075358 No abstract available.
Eosinophilic esophagitis and colonic mucosal eosinophilia in Netherton syndrome.
Paluel-Marmont C, Bellon N, Barbet P, Leclerc-Mercier S, Hadj-Rabia S, Dupont C, Bodemer C. Paluel-Marmont C, et al. J Allergy Clin Immunol. 2017 Jun;139(6):2003-2005.e1. doi: 10.1016/j.jaci.2016.10.045. Epub 2016 Dec 23. J Allergy Clin Immunol. 2017. PMID: 28025013 No abstract available.
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
Zimmer AD, Kim GJ, Hotz A, Bourrat E, Hausser I, Has C, Oji V, Stieler K, Vahlquist A, Kunde V, Weber B, Radner FPW, Leclerc-Mercier S, Schlipf N, Demmer P, Küsel J, Fischer J. Zimmer AD, et al. Br J Dermatol. 2017 Aug;177(2):445-455. doi: 10.1111/bjd.15308. Epub 2017 Apr 28. Br J Dermatol. 2017. PMID: 28093717
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.
Hadj-Rabia S, Brideau G, Al-Sarraj Y, Maroun RC, Figueres ML, Leclerc-Mercier S, Olinger E, Baron S, Chaussain C, Nochy D, Taha RZ, Knebelmann B, Joshi V, Curmi PA, Kambouris M, Vargas-Poussou R, Bodemer C, Devuyst O, Houillier P, El-Shanti H. Hadj-Rabia S, et al. Genet Med. 2018 Feb;20(2):190-201. doi: 10.1038/gim.2017.71. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771254 Free article.
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