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Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.
Nguyen NM, Zhang L, Reddy R, Déry C, Arseneau J, Cheung A, Surti U, Hoffner L, Seoud M, Zaatari G, Bagga R, Srinivasan R, Coullin P, Ao A, Slim R. Nguyen NM, et al. Among authors: hoffner l. J Med Genet. 2014 Sep;51(9):623-34. doi: 10.1136/jmedgenet-2014-102546. Epub 2014 Aug 5. J Med Genet. 2014. PMID: 25097207
NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage.
Messaed C, Chebaro W, Di Roberto RB, Rittore C, Cheung A, Arseneau J, Schneider A, Chen MF, Bernishke K, Surti U, Hoffner L, Sauthier P, Buckett W, Qian J, Lau NM, Bagga R, Engert JC, Coullin P, Touitou I, Slim R; H M Collaborative Group. Messaed C, et al. Among authors: hoffner l. J Med Genet. 2011 Aug;48(8):540-8. doi: 10.1136/jmg.2011.089144. Epub 2011 Jun 9. J Med Genet. 2011. PMID: 21659348
Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes.
Khawajkie Y, Mechtouf N, Nguyen NMP, Rahimi K, Breguet M, Arseneau J, Ronnett BM, Hoffner L, Lazure F, Arnaud M, Peers F, Tan L, Rafea BA, Aguinaga M, Horowitz NS, Ao A, Tan SL, Brown R, Buckett W, Surti U, Hovanes K, Sahoo T, Sauthier P, Slim R. Khawajkie Y, et al. Among authors: hoffner l. Mod Pathol. 2020 May;33(5):880-892. doi: 10.1038/s41379-019-0432-4. Epub 2019 Dec 19. Mod Pathol. 2020. PMID: 31857680 Free article.
A novel NLRP7 protein-truncating mutation associated with discordant and divergent p57 immunostaining in diploid biparental and triploid digynic moles.
Allias F, Mechtouf N, Gaillot-Durand L, Hoffner L, Hajri T, Devouassoux-Shisheboran M, Massardier J, Golfier F, Bolze PA, Surti U, Slim R. Allias F, et al. Among authors: hoffner l. Virchows Arch. 2020 Aug;477(2):309-315. doi: 10.1007/s00428-020-02769-w. Epub 2020 Feb 13. Virchows Arch. 2020. PMID: 32055942
43 results