Focus on Cystic Fibrosis
Other relevant documents:
Please note that a number of further documents have recently
become available which are of general interest:
The revised European cystic fibrosis guidelines have recently been
Best practice guidelines for molecular genetic diagnosis of cystic
fibrosis and CFTR-related disorders - updated European
recommendations. Dequeker E, Stuhrmann M, Morris MA, Casals T,
Castellani C, Claustres M, Cuppens H, des Georges M, Ferec C, Macek
M, Pignatti PF, Scheffer H, Schwartz M, Witt M, Schwarz M, Girodon
E. Eur J Hum Genet. (2009) 1:51-65..
Laboratory guide to newborn screening for CF in the UK:
Updated CF neonatal guidelines Sept 2009
In addition we would draw your attention to the following two
A European consensus for the evaluation and management of infants
with an equivocal diagnosis following newborn screening for cystic
fibrosis. Mayell SJ, Munck A, Craig JV, Sermet I, Brownlee KG,
Schwarz MJ, Castellani C, Southern KW; On behalf of the European
Cystic Fibrosis Society Neonatal Screening Working Group. J Cyst
Fibros. (2009) 1:71-78.
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. J Cyst Fibros. (2008) 3:179-96.