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Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Portnoi MF, Dumargne MC, Rojo S, Witchel SF, Duncan AJ, Eozenou C, Bignon-Topalovic J, Yatsenko SA, Rajkovic A, Reyes-Mugica M, Almstrup K, Fusee L, Srivastava Y, Chantot-Bastaraud S, Hyon C, Louis-Sylvestre C, Validire P, de Malleray Pichard C, Ravel C, Christin-Maitre S, Brauner R, Rossetti R, Persani L, Charreau EH, Dain L, Chiauzzi VA, Mazen I, Rouba H, Schluth-Bolard C, MacGowan S, McLean WHI, Patin E, Rajpert-De Meyts E, Jauch R, Achermann JC, Siffroi JP, McElreavey K, Bashamboo A. Portnoi MF, et al. Among authors: patin e. Hum Mol Genet. 2018 Apr 1;27(7):1228-1240. doi: 10.1093/hmg/ddy037. Hum Mol Genet. 2018. PMID: 29373757 Free PMC article. Clinical Trial.
Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles.
Verdu P, Barreiro LB, Patin E, Gessain A, Cassar O, Kidd JR, Kidd KK, Behar DM, Froment A, Heyer E, Sica L, Casanova JL, Abel L, Quintana-Murci L. Verdu P, et al. Among authors: patin e. Hum Mol Genet. 2006 Sep 1;15(17):2650-8. doi: 10.1093/hmg/ddl193. Epub 2006 Aug 2. Hum Mol Genet. 2006. PMID: 16885193
Signatures of purifying and local positive selection in human miRNAs.
Quach H, Barreiro LB, Laval G, Zidane N, Patin E, Kidd KK, Kidd JR, Bouchier C, Veuille M, Antoniewski C, Quintana-Murci L. Quach H, et al. Among authors: patin e. Am J Hum Genet. 2009 Mar;84(3):316-27. doi: 10.1016/j.ajhg.2009.01.022. Epub 2009 Feb 19. Am J Hum Genet. 2009. PMID: 19232555 Free PMC article.
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.
Lesage S, Patin E, Condroyer C, Leutenegger AL, Lohmann E, Giladi N, Bar-Shira A, Belarbi S, Hecham N, Pollak P, Ouvrard-Hernandez AM, Bardien S, Carr J, Benhassine T, Tomiyama H, Pirkevi C, Hamadouche T, Cazeneuve C, Basak AN, Hattori N, Dürr A, Tazir M, Orr-Urtreger A, Quintana-Murci L, Brice A; French Parkinson's Disease Genetics Study Group. Lesage S, et al. Among authors: patin e. Hum Mol Genet. 2010 May 15;19(10):1998-2004. doi: 10.1093/hmg/ddq081. Epub 2010 Mar 2. Hum Mol Genet. 2010. PMID: 20197411
The evolutionary landscape of cytosolic microbial sensors in humans.
Vasseur E, Boniotto M, Patin E, Laval G, Quach H, Manry J, Crouau-Roy B, Quintana-Murci L. Vasseur E, et al. Among authors: patin e. Am J Hum Genet. 2012 Jul 13;91(1):27-37. doi: 10.1016/j.ajhg.2012.05.008. Epub 2012 Jun 28. Am J Hum Genet. 2012. PMID: 22748209 Free PMC article.
126 results