Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.
|
30146269 |
2019 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil.
|
30726326 |
2019 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.
|
29497617 |
2018 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.
|
30046002 |
2018 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics.
|
28544683 |
2018 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
|
29805046 |
2018 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?
|
27086061 |
2017 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
|
27738188 |
2017 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The population genetics of human disease: The case of recessive, lethal mutations.
|
28957316 |
2017 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.
|
26471113 |
2017 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.
|
28546993 |
2017 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.
|
29178639 |
2017 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A new insight into CFTR allele frequency in Brazil through next generation sequencing.
|
28771972 |
2017 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.
|
27717243 |
2017 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
|
28603918 |
2017 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.
|
26708955 |
2016 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children.
|
26826884 |
2016 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.
|
26990548 |
2016 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
CT-abnormalities, bacteriology and symptoms of sinonasal disease in children with Cystic Fibrosis.
|
27049043 |
2016 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations.
|
25735457 |
2016 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
|
26014425 |
2016 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
High ambient temperature and risk of intestinal obstruction in cystic fibrosis.
|
27145507 |
2016 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
|
25674778 |
2016 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas.
|
26631874 |
2016 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.
|
27022295 |
2016 |