Literature DB >> 19050722

When good CF tests go bad.

Trudi McDevitt, David Barton.   

Abstract

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Year:  2008        PMID： 19050722      PMCID： PMC2986206          DOI： 10.1038/ejhg.2008.229

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  9 in total

1.  Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements.

Authors:  A Girardet; C Guittard; J-P Altieri; C Templin; N Stremler; C Beroud; M des Georges; M Claustres
Journal:  Clin Genet       Date:  2007-10       Impact factor: 4.438

2.  Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases.

Authors:  Manfred Stuhrmann; Kai Brakensiek; Loukas Argyriou; Ingolf Boehm; Katrin Hinderhofer; Ingrid Bauer; Britta M Rhode; Madeleine Maelzer; Christine Zuehlke; Gabriele Krueger; Joerg Schmidtke
Journal:  Eur J Hum Genet       Date:  2008-12-03       Impact factor: 4.246

3.  Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories.

Authors:  Jana Camajova; Sarah Berwouts; Gert Matthijs; Milan Macek; Elisabeth Dequeker
Journal:  Eur J Hum Genet       Date:  2008-12-03       Impact factor: 4.246

4.  Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

Authors:  Els Dequeker; Manfred Stuhrmann; Michael A Morris; Teresa Casals; Carlo Castellani; Mireille Claustres; Harry Cuppens; Marie des Georges; Claude Ferec; Milan Macek; Pier-Franco Pignatti; Hans Scheffer; Marianne Schwartz; Michal Witt; Martin Schwarz; Emmanuelle Girodon
Journal:  Eur J Hum Genet       Date:  2008-08-06       Impact factor: 4.246

Review 5.  Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.

Authors:  Joseph L Bobadilla; Milan Macek; Jason P Fine; Philip M Farrell
Journal:  Hum Mutat       Date:  2002-06       Impact factor: 4.878

Review 6.  Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Authors:  C Castellani; H Cuppens; M Macek; J J Cassiman; E Kerem; P Durie; E Tullis; B M Assael; C Bombieri; A Brown; T Casals; M Claustres; G R Cutting; E Dequeker; J Dodge; I Doull; P Farrell; C Ferec; E Girodon; M Johannesson; B Kerem; M Knowles; A Munck; P F Pignatti; D Radojkovic; P Rizzotti; M Schwarz; M Stuhrmann; M Tzetis; J Zielenski; J S Elborn
Journal:  J Cyst Fibros       Date:  2008-05       Impact factor: 5.482

7.  Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study.

Authors:  R Tomaiuolo; F Sangiuolo; C Bombieri; A Bonizzato; G Cardillo; V Raia; M R D'Apice; M D Bettin; P F Pignatti; G Castaldo; G Novelli
Journal:  J Cyst Fibros       Date:  2008-02-14       Impact factor: 5.482

8.  Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis.

Authors:  Sarah Berwouts; Joan T Gordon; Clark A Rundell; David E Barton; Elisabeth Dequeker
Journal:  Hum Mutat       Date:  2008-08       Impact factor: 4.878

9.  Standards and guidelines for CFTR mutation testing.

Authors:  Carolyn Sue Richards; Linda A Bradley; Jean Amos; Bernice Allitto; Wayne W Grody; Anne Maddalena; Matthew J McGinnis; Thomas W Prior; Bradley W Popovich; Michael S Watson; Glenn E Palomaki
Journal:  Genet Med       Date:  2002 Sep-Oct       Impact factor: 8.822
  9 in total

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