Literature DB >> 11732487

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.

M D Amaral, P Pacheco, S Beck, C M Farinha, D Penque, P Nogueira, C Barreto, B Lopes, T Casals, J Dapena, S Gartner, C Vásquez, J Pérez-Frías, C Olveira, R Cabanas, X Estivill, M Tzetis, E Kanavakis, S Doudounakis, T Dörk, B Tümmler, E Girodon-Boulandet, C Cazeneuve, M Goossens, M Blayau, C Verlingue, I Vieira, C Féréc, M Claustres, M des Georges, C Clavel, P Birembaut, D Hubert, T Bienvenu, M Adoun, J C Chomel, K De Boeck, H Cuppens, J Lavinha.   

Abstract

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Year:  2001        PMID： 11732487      PMCID： PMC1734751          DOI： 10.1136/jmg.38.11.777

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.

Authors:  Melissa Lee; Patrick Roos; Neeraj Sharma; Melis Atalar; Taylor A Evans; Matthew J Pellicore; Emily Davis; Anh-Thu N Lam; Susan E Stanley; Sara E Khalil; George M Solomon; Doug Walker; Karen S Raraigh; Briana Vecchio-Pagan; Mary Armanios; Garry R Cutting
Journal:  Am J Hum Genet       Date:  2017-05-04       Impact factor: 11.025

Review 2.  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.  Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.

Authors:  Marisa Sousa; Maria F Servidoni; Adriana M Vinagre; Anabela S Ramalho; Luciana C Bonadia; Verónica Felício; Maria A Ribeiro; Inna Uliyakina; Fernando A Marson; Arthur Kmit; Silvia R Cardoso; José D Ribeiro; Carmen S Bertuzzo; Lisete Sousa; Karl Kunzelmann; Antônio F Ribeiro; Margarida D Amaral
Journal:  PLoS One       Date:  2012-10-17       Impact factor: 3.240

4.  Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil.

Authors:  Katiana Murieli da Rosa; Eliandra da Silveira de Lima; Camila Correia Machado; Thaiane Rispoli; Victória d'Azevedo Silveira; Renata Ongaratto; Talitha Comaru; Leonardo Araújo Pinto
Journal:  J Bras Pneumol       Date:  2018 Nov-Dec       Impact factor: 2.624

5.  Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies.

Authors:  Sofia S Ramalho; Iris A L Silva; Margarida D Amaral; Carlos M Farinha
Journal:  Int J Mol Sci       Date:  2021-12-21       Impact factor: 5.923
  5 in total

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