Literature DB >> 19050729

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

Manfred Stuhrmann, Kai Brakensiek, Loukas Argyriou, Ingolf Boehm, Katrin Hinderhofer, Ingrid Bauer, Britta M Rhode, Madeleine Maelzer, Christine Zuehlke, Gabriele Krueger, Joerg Schmidtke.   

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Year:  2008        PMID： 19050729      PMCID： PMC2986213          DOI： 10.1038/ejhg.2008.190

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


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  3 in total

1.  PCR-based mutation analysis in cystic fibrosis.

Authors:  M Stuhrmann; J Schmidtke
Journal:  Ann Med       Date:  1992-06       Impact factor: 4.709

2.  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 3.  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
  3 in total
  1 in total

1.  When good CF tests go bad.

Authors:  Trudi McDevitt; David Barton
Journal:  Eur J Hum Genet       Date:  2008-12-03       Impact factor: 4.246
  1 in total

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