Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA-Reference-Cited by-同舟云学术

Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA

Published:2012-05-12 Issue:8 Volume:171 Page:1223-1229
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Krulišová Veronika,Balaščaková Miroslava,Skalická Veronika,Piskáčková Tereza,Holubová Andrea,Paděrová Jana,Křenková Petra,Dvořáková Lenka,Zemková Dana,Kračmar Petr,Chovancová Blanka,Vávrová Věra,Štambergová Alexandra,Votava Felix,Macek Milan

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-012-1747-z.pdf

Reference25 articles.

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2. Balascaková M, Holubová A, Skalická V, Zemková D, Kracmar P, Gonsorcíkova L, Camajová J, Piskácková T, Lebl J, Drevínek P, Gregor V, Vávrová V, Votava F, Macek M Jr (2009) Pilot newborn screening project for cystic fibrosis in the Czech Republic: defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease. J Cyst Fibros 8(3):224–7

3. Bobadilla JL, Macek M Jr, Fine JP, Farrell PM (2002) Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat 19(6):575–606

4. Brunecký Z (1972) The incidence and genetics of cystic fibrosis. J Med Genet 9(1):33–7

5. 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 (2008) Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 7(3):179–96

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