Slim R - Search Results

1

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: slim r. Virchows Arch. 2020 Aug;477(2):309-315. doi: 10.1007/s00428-020-02769-w. Epub 2020 Feb 13. Virchows Arch. 2020. PMID: 32055942

2

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.

Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, Bagga R, Kircheisen R, Ao A, Ratti B, Hanash S, Rouleau GA, Slim R. Murdoch S, et al. Among authors: slim r. Nat Genet. 2006 Mar;38(3):300-2. doi: 10.1038/ng1740. Epub 2006 Feb 5. Nat Genet. 2006. PMID: 16462743

3

Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations.

Qian J, Deveault C, Bagga R, Xie X, Slim R. Qian J, et al. Among authors: slim r. Hum Mutat. 2007 Jul;28(7):741. doi: 10.1002/humu.9498. Hum Mutat. 2007. PMID: 17579354

4

NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.

Deveault C, Qian JH, Chebaro W, Ao A, Gilbert L, Mehio A, Khan R, Tan SL, Wischmeijer A, Coullin P, Xie X, Slim R. Deveault C, et al. Among authors: slim r. Hum Mol Genet. 2009 Mar 1;18(5):888-97. doi: 10.1093/hmg/ddn418. Epub 2008 Dec 9. Hum Mol Genet. 2009. PMID: 19066229

5

Recurrent triploid and dispermic conceptions in patients with NLRP7 mutations.

Slim R, Ao A, Surti U, Zhang L, Hoffner L, Arseneau J, Cheung A, Chebaro W, Wischmeijer A. Slim R, et al. Placenta. 2011 May;32(5):409-12. doi: 10.1016/j.placenta.2011.02.001. Epub 2011 Mar 21. Placenta. 2011. PMID: 21421271 Free PMC article.

6

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: slim r. 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

7

Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.

Reddy R, Akoury E, Phuong Nguyen NM, Abdul-Rahman OA, Dery C, Gupta N, Daley WP, Ao A, Landolsi H, Ann Fisher R, Touitou I, Slim R. Reddy R, et al. Among authors: slim r. Eur J Hum Genet. 2013 Sep;21(9):957-64. doi: 10.1038/ejhg.2012.274. Epub 2012 Dec 12. Eur J Hum Genet. 2013. PMID: 23232697 Free PMC article.

8

Differential expression of E-cadherin, β-catenin, and Lewis x between invasive hydatidiform moles and post-molar choriocarcinomas.

Candelier JJ, Frappart L, Diatta AL, Yadaden T, Cissé ML, Afoutou JM, Picard JY, Mennesson B, Slim R, Si-Tayeb K, Coullin P. Candelier JJ, et al. Among authors: slim r. Virchows Arch. 2013 Jun;462(6):653-63. doi: 10.1007/s00428-013-1427-z. Epub 2013 May 17. Virchows Arch. 2013. PMID: 23681114

9

Recurrent pregnancy loss in a woman with NLRP7 mutation: not all molar pregnancies can be easily classified as either "partial" or "complete" hydatidiform moles.

Brown L, Mount S, Reddy R, Slim R, Wong C, Jobanputra V, Clifford P, Merrill L, Brown S. Brown L, et al. Among authors: slim r. Int J Gynecol Pathol. 2013 Jul;32(4):399-405. doi: 10.1097/PGP.0b013e31826cbf6a. Int J Gynecol Pathol. 2013. PMID: 23722513

10

NLRP7 inter-domain interactions: the NACHT-associated domain is the physical mediator for oligomeric assembly.

Singer H, Biswas A, Zimmer N, Messaed C, Oldenburg J, Slim R, El-Maarri O. Singer H, et al. Among authors: slim r. Mol Hum Reprod. 2014 Oct;20(10):990-1001. doi: 10.1093/molehr/gau060. Epub 2014 Jul 31. Mol Hum Reprod. 2014. PMID: 25082979 Free PMC article.

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