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The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky I, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Barić I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M. Seemanova E, et al. Among authors: jarolim p. PLoS One. 2016 Dec 9;11(12):e0167984. doi: 10.1371/journal.pone.0167984. eCollection 2016. PLoS One. 2016. PMID: 27936167 Free PMC article.
[Chromosome instability syndromes].
Seemanová E, Seeman P, Jarolím P. Seemanová E, et al. Among authors: jarolim p. Cas Lek Cesk. 2002;141(1):16-22. Cas Lek Cesk. 2002. PMID: 11899541 Czech.
Cancer risk of heterozygotes with the NBN founder mutation.
Seemanová E, Jarolim P, Seeman P, Varon R, Digweed M, Swift M, Sperling K. Seemanová E, et al. Among authors: jarolim p. J Natl Cancer Inst. 2007 Dec 19;99(24):1875-80. doi: 10.1093/jnci/djm251. Epub 2007 Dec 11. J Natl Cancer Inst. 2007. PMID: 18073374
Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.
Jarolim P, Shayakul C, Prabakaran D, Jiang L, Stuart-Tilley A, Rubin HL, Simova S, Zavadil J, Herrin JT, Brouillette J, Somers MJ, Seemanova E, Brugnara C, Guay-Woodford LM, Alper SL. Jarolim P, et al. J Biol Chem. 1998 Mar 13;273(11):6380-8. doi: 10.1074/jbc.273.11.6380. J Biol Chem. 1998. PMID: 9497368 Free article.
229 results