Literature DB >> 7505694

Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.

M Chillón1, T Casals, V Nunes, J Giménez, E Pérez Ruiz, X Estivill.   

Abstract

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Year:  1993        PMID： 7505694     DOI： 10.1093/hmg/2.10.1741

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  8 in total

1.  Medical reversal of chronic sinusitis in a cystic fibrosis patient with ivacaftor.

Authors:  Eugene H Chang; Xiao Xiao Tang; Viral S Shah; Janice L Launspach; Sarah E Ernst; Brieanna Hilkin; Philip H Karp; Mahmoud H Abou Alaiwa; Scott M Graham; Douglas B Hornick; Michael J Welsh; David A Stoltz; Joseph Zabner
Journal:  Int Forum Allergy Rhinol       Date:  2014-10-31       Impact factor: 3.858

2.  Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.

Authors:  C Vazquez; G Antiñolo; T Casals; J Dapena; J Elorz; J L Seculi; J Sirvent; R Cabanas; C Soler; X Estivill
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

3.  CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.

Authors:  Molly B Sheridan; Timothy W Hefferon; Nulang Wang; Christian Merlo; Carlos Milla; Drucy Borowitz; Eric D Green; Peter J Mogayzel; Garry R Cutting
Journal:  J Med Genet       Date:  2010-11-20       Impact factor: 6.318

4.  Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected.

Authors:  T Casals; L Bassas; J Ruiz-Romero; M Chillón; J Giménez; M D Ramos; G Tapia; H Narváez; V Nunes; X Estivill
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

5.  A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

Authors:  M Chillón; T Dörk; T Casals; J Giménez; N Fonknechten; K Will; D Ramos; V Nunes; X Estivill
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

6.  Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences.

Authors:  X Estivill; L Ortigosa; J Pérez-Frias; J Dapena; J Ferrer; L Peña; L Peña; R Llevadot; J Giménez; V Nunes
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132

Review 7.  Chronic rhinosinusitis in patients with cystic fibrosis-Current management and new treatments.

Authors:  Brian Jake Johnson; Garret W Choby; Erin K O'Brien
Journal:  Laryngoscope Investig Otolaryngol       Date:  2020-06-13

8.  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
  8 in total

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