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European best practice guidelines for cystic fibrosis neonatal screening.
Castellani C, Southern KW, Brownlee K, Dankert Roelse J, Duff A, Farrell M, Mehta A, Munck A, Pollitt R, Sermet-Gaudelus I, Wilcken B, Ballmann M, Corbetta C, de Monestrol I, Farrell P, Feilcke M, Férec C, Gartner S, Gaskin K, Hammermann J, Kashirskaya N, Loeber G, Macek M Jr, Mehta G, Reiman A, Rizzotti P, Sammon A, Sands D, Smyth A, Sommerburg O, Torresani T, Travert G, Vernooij A, Elborn S. Castellani C, et al. J Cyst Fibros. 2009 May;8(3):153-73. doi: 10.1016/j.jcf.2009.01.004. Epub 2009 Feb 26. J Cyst Fibros. 2009. PMID: 19246252
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
Castellani C, Cuppens H, Macek M Jr, Cassiman JJ, Kerem E, Durie P, Tullis E, Assael BM, Bombieri C, Brown A, Casals T, Claustres M, Cutting GR, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, Munck A, Pignatti PF, Radojkovic D, Rizzotti P, Schwarz M, Stuhrmann M, Tzetis M, Zielenski J, Elborn JS. Castellani C, et al. J Cyst Fibros. 2008 May;7(3):179-96. doi: 10.1016/j.jcf.2008.03.009. J Cyst Fibros. 2008. PMID: 18456578 Free PMC article. Review.
Recommendations for the classification of diseases as CFTR-related disorders.
Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, Sermet I, Schwarz M, Tzetis M, Wilschanski M, Bareil C, Bilton D, Castellani C, Cuppens H, Cutting GR, Drevínek P, Farrell P, Elborn JS, Jarvi K, Kerem B, Kerem E, Knowles M, Macek M Jr, Munck A, Radojkovic D, Seia M, Sheppard DN, Southern KW, Stuhrmann M, Tullis E, Zielenski J, Pignatti PF, Ferec C. Bombieri C, et al. J Cyst Fibros. 2011 Jun;10 Suppl 2:S86-102. doi: 10.1016/S1569-1993(11)60014-3. J Cyst Fibros. 2011. PMID: 21658649
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis.
Farrell P, Férec C, Macek M, Frischer T, Renner S, Riss K, Barton D, Repetto T, Tzetis M, Giteau K, Duno M, Rogers M, Levy H, Sahbatou M, Fichou Y, Le Maréchal C, Génin E. Farrell P, et al. Eur J Hum Genet. 2018 Dec;26(12):1832-1839. doi: 10.1038/s41431-018-0234-z. Epub 2018 Aug 8. Eur J Hum Genet. 2018. PMID: 30089827 Free PMC article.
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