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Mutations in Fanconi anemia genes and the risk of esophageal cancer.
Akbari MR, Malekzadeh R, Lepage P, Roquis D, Sadjadi AR, Aghcheli K, Yazdanbod A, Shakeri R, Bashiri J, Sotoudeh M, Pourshams A, Ghadirian P, Narod SA. Akbari MR, et al. Among authors: lepage p. Hum Genet. 2011 May;129(5):573-82. doi: 10.1007/s00439-011-0951-7. Epub 2011 Jan 30. Hum Genet. 2011. PMID: 21279724 Free article.
Analysis of PALB2/FANCN-associated breast cancer families.
Tischkowitz M, Xia B, Sabbaghian N, Reis-Filho JS, Hamel N, Li G, van Beers EH, Li L, Khalil T, Quenneville LA, Omeroglu A, Poll A, Lepage P, Wong N, Nederlof PM, Ashworth A, Tonin PN, Narod SA, Livingston DM, Foulkes WD. Tischkowitz M, et al. Among authors: lepage p. Proc Natl Acad Sci U S A. 2007 Apr 17;104(16):6788-93. doi: 10.1073/pnas.0701724104. Epub 2007 Apr 9. Proc Natl Acad Sci U S A. 2007. PMID: 17420451 Free PMC article.
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV. Hrebícek M, et al. Among authors: lepage p. Am J Hum Genet. 2006 Nov;79(5):807-19. doi: 10.1086/508294. Epub 2006 Sep 8. Am J Hum Genet. 2006. PMID: 17033958 Free PMC article.
Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.
de Kock L, Sabbaghian N, Plourde F, Srivastava A, Weber E, Bouron-Dal Soglio D, Hamel N, Choi JH, Park SH, Deal CL, Kelsey MM, Dishop MK, Esbenshade A, Kuttesch JF, Jacques TS, Perry A, Leichter H, Maeder P, Brundler MA, Warner J, Neal J, Zacharin M, Korbonits M, Cole T, Traunecker H, McLean TW, Rotondo F, Lepage P, Albrecht S, Horvath E, Kovacs K, Priest JR, Foulkes WD. de Kock L, et al. Among authors: lepage p. Acta Neuropathol. 2014 Jul;128(1):111-22. doi: 10.1007/s00401-014-1285-z. Epub 2014 May 20. Acta Neuropathol. 2014. PMID: 24839956 Free PMC article.
Mapping common regulatory variants to human haplotypes.
Pastinen T, Ge B, Gurd S, Gaudin T, Dore C, Lemire M, Lepage P, Harmsen E, Hudson TJ. Pastinen T, et al. Among authors: lepage p. Hum Mol Genet. 2005 Dec 15;14(24):3963-71. doi: 10.1093/hmg/ddi420. Epub 2005 Nov 21. Hum Mol Genet. 2005. PMID: 16301213
371 results