Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population

Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator

(2016) Patrick R. Sosnay et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene

(2012) Magali Taulan et al.   GENE

Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases

(2012) Liborio Stuppia et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Prevalence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among cystic fibrosis patients from a Brazilian referral center

(2012) Andréia Marisa Bieger et al.   Jornal de Pediatria

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

The Genomic Ancestry of Individuals from Different Geographical Regions of Brazil Is More Uniform Than Expected

(2011) Sérgio D. J. Pena et al.   PLoS One

Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening

(2010) C. Perone et al.   BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

CFTR Function and Prospects for Therapy

(2008) John R. Riordan   Annual Review of Biochemistry

Multiplex Ligation-Dependent Probe Amplification Identification of Whole Exon and Single Nucleotide Deletions in the CFTR Gene of Hispanic Individuals with Cystic Fibrosis

(2008) Iris Schrijver et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients

(2007) Salmo Raskin et al.   Journal of Cystic Fibrosis