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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 published:
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 important publications:
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. |
