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Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
Hinzpeter A, Aissat A, Sondo E, Costa C, Arous N, Gameiro C, Martin N, Tarze A, Weiss L, de Becdelièvre A, Costes B, Goossens M, Galietta LJ, Girodon E, Fanen P. Hinzpeter A, et al. Among authors: martin n. PLoS Genet. 2010 Oct 7;6(10):e1001153. doi: 10.1371/journal.pgen.1001153. PLoS Genet. 2010. PMID: 20949073 Free PMC article.
The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible.
Hinzpeter A, Reboul MP, Callebaut I, Zordan C, Costes B, Guichoux J, Iron A, Lacombe D, Martin N, Arveiler B, Fanen P, Fergelot P, Girodon E. Hinzpeter A, et al. Among authors: martin n. Clin Case Rep. 2017 Mar 30;5(5):658-663. doi: 10.1002/ccr3.760. eCollection 2017 May. Clin Case Rep. 2017. PMID: 28469871 Free PMC article.
Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.
Pranke I, Bidou L, Martin N, Blanchet S, Hatton A, Karri S, Cornu D, Costes B, Chevalier B, Tondelier D, Girodon E, Coupet M, Edelman A, Fanen P, Namy O, Sermet-Gaudelus I, Hinzpeter A. Pranke I, et al. Among authors: martin n. ERJ Open Res. 2018 Feb 23;4(1):00080-2017. doi: 10.1183/23120541.00080-2017. eCollection 2018 Jan. ERJ Open Res. 2018. PMID: 29497617 Free PMC article.
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
Gallou C, Chauveau D, Richard S, Joly D, Giraud S, Olschwang S, Martin N, Saquet C, Chrétien Y, Méjean A, Correas JM, Benoît G, Colombeau P, Grünfeld JP, Junien C, Béroud C. Gallou C, et al. Among authors: martin n. Hum Mutat. 2004 Sep;24(3):215-24. doi: 10.1002/humu.20082. Hum Mutat. 2004. PMID: 15300849
5,398 results