Literature DB >> 7530552

Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium.

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Year:  1994        PMID： 7530552     DOI： 10.1002/humu.1380040302

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  40 in total

Review 1.  Cystic fibrosis--an Indian perspective on recent advances in diagnosis and management.

Authors:  S K Kabra; M Kabra; M Ghosh; I C Verma
Journal:  Indian J Pediatr       Date:  1996 Mar-Apr       Impact factor: 1.967

2.  Scientific limitations and ethical ramifications of a non-representative Human Genome Project: African American response.

Authors:  Fatimah Jackson
Journal:  Sci Eng Ethics       Date:  1998-04       Impact factor: 3.525

Review 3.  Patterns of GI disease in adulthood associated with mutations in the CFTR gene.

Authors:  Michael Wilschanski; Peter R Durie
Journal:  Gut       Date:  2007-04-19       Impact factor: 23.059

4.  CFTR mutations and reproductive outcomes in a population isolate.

Authors:  Irene Gallego Romero; Carole Ober
Journal:  Hum Genet       Date:  2007-09-28       Impact factor: 4.132

5.  Pulmonary outcome in cystic fibrosis is influenced primarily by mucoid Pseudomonas aeruginosa infection and immune status and only modestly by genotype.

Authors:  R B Parad; C J Gerard; D Zurakowski; D P Nichols; G B Pier
Journal:  Infect Immun       Date:  1999-09       Impact factor: 3.441

6.  Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation.

Authors:  E Kanavakis; M Tzetis; T Antoniadi; J Traeger-Synodinos; S Doudounakis; G Adam; N Matsaniotis; C Kattamis
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

7.  Geographic distribution and origin of CFTR mutations in Germany.

Authors:  B Tümmler; T Storrs; V Dziadek; T Dörk; T Meitinger; A Golla; R M Bertele-Harms; H K Harms; E Schröder; A Claass; J Rutjes; R Schneppenheim; I Bauer; K Breuel; M Stuhrmann; J Schmidtke; M Lindner; A Eigel; J Horst; R Kaiser; M J Lentze; K Schmidt; H von der Hardt; X Estivill
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

8.  Molecular characterisation of cystic fibrosis patients in the state of São Paulo (Brazil)

Authors:  E A Parizotto; C S Bertuzzo
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

9.  Asthma and pulmonary function abnormalities in heterozygotes for cystic fibrosis transmembrane regulator gene mutations.

Authors:  Konstantinos Douros; Ioanna Loukou; Stavros Doudounakis; Maria Tzetis; Kostas N Priftis; Emmanuel Kanavakis
Journal:  Int J Clin Exp Med       Date:  2008-10-27

10.  Cystic fibrosis-related diabetes: from CFTR dysfunction to oxidative stress.

Authors:  Thierry Ntimbane; Blandine Comte; Geneviève Mailhot; Yves Berthiaume; Vincent Poitout; Marc Prentki; Rémi Rabasa-Lhoret; Emile Levy
Journal:  Clin Biochem Rev       Date:  2009-11
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