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Page 1
Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.
Rauscher R, Bampi GB, Guevara-Ferrer M, Santos LA, Joshi D, Mark D, Strug LJ, Rommens JM, Ballmann M, Sorscher EJ, Oliver KE, Ignatova Z. Rauscher R, et al. Among authors: ballmann m. Proc Natl Acad Sci U S A. 2021 Jan 26;118(4):e2010612118. doi: 10.1073/pnas.2010612118. Proc Natl Acad Sci U S A. 2021. PMID: 33468668 Free PMC article.
Basic protocol for transepithelial nasal potential difference measurements.
Schüler D, Sermet-Gaudelus I, Wilschanski M, Ballmann M, Dechaux M, Edelman A, Hug M, Leal T, Lebacq J, Lebecque P, Lenoir G, Stanke F, Wallemacq P, Tümmler B, Knowles MR. Schüler D, et al. Among authors: ballmann m. J Cyst Fibros. 2004 Aug;3 Suppl 2:151-5. doi: 10.1016/j.jcf.2004.05.032. J Cyst Fibros. 2004. PMID: 15463949 Free article. Review.
CFTR protein analysis of splice site mutation 2789+5 G-A.
van Barneveld A, Stanke F, Claass A, Ballmann M, Tümmler B. van Barneveld A, et al. Among authors: ballmann m. J Cyst Fibros. 2008 Mar;7(2):165-7. doi: 10.1016/j.jcf.2007.07.007. Epub 2007 Aug 16. J Cyst Fibros. 2008. PMID: 17707141 Free article.
Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia.
Stanke F, Becker T, Kumar V, Hedtfeld S, Becker C, Cuppens H, Tamm S, Yarden J, Laabs U, Siebert B, Fernandez L, Macek M Jr, Radojkovic D, Ballmann M, Greipel J, Cassiman JJ, Wienker TF, Tümmler B. Stanke F, et al. Among authors: ballmann m. J Med Genet. 2011 Jan;48(1):24-31. doi: 10.1136/jmg.2010.080937. Epub 2010 Sep 12. J Med Genet. 2011. PMID: 20837493 Free PMC article.
Cystic fibrosis transmembrane conductance regulator (CFTR)-mediated residual chloride secretion does not protect against early chronic Pseudomonas aeruginosa infection in F508del homozygous cystic fibrosis patients.
Derichs N, Mekus F, Bronsveld I, Bijman J, Veeze HJ, von der Hardt H, Tummler B, Ballmann M. Derichs N, et al. Among authors: ballmann m. Pediatr Res. 2004 Jan;55(1):69-75. doi: 10.1203/01.PDR.0000100758.66805.CE. Epub 2003 Nov 6. Pediatr Res. 2004. PMID: 14605249
Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation.
Clancy JP, Rowe SM, Accurso FJ, Aitken ML, Amin RS, Ashlock MA, Ballmann M, Boyle MP, Bronsveld I, Campbell PW, De Boeck K, Donaldson SH, Dorkin HL, Dunitz JM, Durie PR, Jain M, Leonard A, McCoy KS, Moss RB, Pilewski JM, Rosenbluth DB, Rubenstein RC, Schechter MS, Botfield M, Ordoñez CL, Spencer-Green GT, Vernillet L, Wisseh S, Yen K, Konstan MW. Clancy JP, et al. Among authors: ballmann m. Thorax. 2012 Jan;67(1):12-8. doi: 10.1136/thoraxjnl-2011-200393. Epub 2011 Aug 8. Thorax. 2012. PMID: 21825083 Free PMC article. Clinical Trial.
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
Wainwright CE, Elborn JS, Ramsey BW, Marigowda G, Huang X, Cipolli M, Colombo C, Davies JC, De Boeck K, Flume PA, Konstan MW, McColley SA, McCoy K, McKone EF, Munck A, Ratjen F, Rowe SM, Waltz D, Boyle MP; TRAFFIC Study Group; TRANSPORT Study Group. Wainwright CE, et al. N Engl J Med. 2015 Jul 16;373(3):220-31. doi: 10.1056/NEJMoa1409547. Epub 2015 May 17. N Engl J Med. 2015. PMID: 25981758 Free PMC article. Clinical Trial.
128 results