Literature DB >> 8543293

Complete map of cystic fibrosis mutation DF508 frequencies in Western Europe and correlation between mutation frequencies and incidence of disease.

G Lucotte1, S Hazout, M De Braekeleer.   

Abstract

The frequencies of DF508, the main cystic fibrosis mutation, vary among different populations in Western Europe; they are higher in northwestern Europeans than in southeastern populations. Our new analysis is based on results from 66 different laboratories on 17,886 cystic fibrosis chromosomes (from 70 locations and 26 countries). The correlation between DF508 frequency values and cystic fibrosis incidence is calculated in the corresponding groups.

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Year:  1995        PMID: 8543293

Source DB:  PubMed          Journal:  Hum Biol        ISSN: 0018-7143            Impact factor:   0.553


  8 in total

Review 1.  Research outputs in respiratory medicine.

Authors:  I Rippon; G Lewison; M R Partridge
Journal:  Thorax       Date:  2005-01       Impact factor: 9.139

2.  A haplotype framework for cystic fibrosis mutations in Iran.

Authors:  Elahe Elahi; Ahmad Khodadad; Ilya Kupershmidt; Fereshteh Ghasemi; Babak Alinasab; Ramin Naghizadeh; Robert G Eason; Mahshid Amini; Mehran Esmaili; Mohammad R Esmaeili Dooki; Mohammad H Sanati; Ronald W Davis; Mostafa Ronaghi; Yvonne R Thorstenson
Journal:  J Mol Diagn       Date:  2006-02       Impact factor: 5.568

3.  Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis.

Authors:  Philip Farrell; Claude Férec; Milan Macek; Thomas Frischer; Sabine Renner; Katharina Riss; David Barton; Teresa Repetto; Maria Tzetis; Karine Giteau; Morten Duno; Melissa Rogers; Hara Levy; Mourad Sahbatou; Yann Fichou; Cédric Le Maréchal; Emmanuelle Génin
Journal:  Eur J Hum Genet       Date:  2018-08-08       Impact factor: 4.246

4.  A genome-wide approach to identify genetic loci with a signature of natural selection in the Irish population.

Authors:  Valeria Mattiangeli; Anthony W Ryan; Ross McManus; Daniel G Bradley
Journal:  Genome Biol       Date:  2006-08-11       Impact factor: 13.583

Review 5.  Newborn Screening for CF across the Globe-Where Is It Worthwhile?

Authors:  Virginie Scotet; Hector Gutierrez; Philip M Farrell
Journal:  Int J Neonatal Screen       Date:  2020-03-04

6.  Reference percentiles for FEV(1) and BMI in European children and adults with cystic fibrosis.

Authors:  Pierre-Yves Boëlle; Laura Viviani; Pierre-Francois Busson; Hanne V Olesen; Sophie Ravilly; Martin Stern; Baroukh M Assael; Celeste Barreto; Pavel Drevinek; Muriel Thomas; Uros Krivec; Meir Mei-Zahav; Jean-François Vibert; Annick Clement; Anil Mehta; Harriet Corvol
Journal:  Orphanet J Rare Dis       Date:  2012-09-07       Impact factor: 4.123

7.  Allele frequency for Cystic fibrosis in Indians vis-a/-vis global populations.

Authors:  Karnajit Kumar Bepari; Arup Kumar Malakar; Prosenjit Paul; Binata Halder; Supriyo Chakraborty
Journal:  Bioinformation       Date:  2015-07-31

8.  European Non-Communicable Respiratory Disease Research, 2002-13: Bibliometric Study of Outputs and Funding.

Authors:  Mursheda Begum; Grant Lewison; John S F Wright; Elena Pallari; Richard Sullivan
Journal:  PLoS One       Date:  2016-04-25       Impact factor: 3.240

  8 in total

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