|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
|
25981758 |
2015 |
|
Cystic Fibrosis
|
|
0.810 |
CausalMutation
|
CLINVAR |
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
|
25910067 |
2015 |
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
|
25431289 |
2014 |
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
|
24014130 |
2014 |
|
Cystic Fibrosis
|
|
0.810 |
CausalMutation
|
CLINVAR |
The relative frequency of CFTR mutation classes in European patients with cystic fibrosis.
|
24440181 |
2014 |
|
Cystic Fibrosis
|
|
0.810 |
CausalMutation
|
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
|
Cystic Fibrosis
|
|
0.810 |
CausalMutation
|
CLINVAR |
Ivacaftor potentiation of multiple CFTR channels with gating mutations.
|
22293084 |
2012 |
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
|
21422883 |
2011 |
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
|
20675678 |
2010 |
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
|
20605539 |
2010 |
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
|
19914445 |
2009 |
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
|
19888064 |
2009 |
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.
|
19914443 |
2009 |
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
|
17761616 |
2007 |
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
15789152 |
2005 |
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
BEFREE |
In order to further elucidate the contribution of complex alleles to the wide phenotypic variability of cystic fibrosis (CF), we investigated the structure-function relationships of a severe CF-associated complex allele [p.S912L;p.G1244V].
|
15744523 |
2005 |
|
Cystic Fibrosis
|
|
0.810 |
CausalMutation
|
CLINVAR |
Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population.
|
15638824 |
2005 |
|
Cystic Fibrosis
|
|
0.810 |
CausalMutation
|
CLINVAR |
Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.
|
15948195 |
2005 |
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Standards and guidelines for CFTR mutation testing.
|
12394352 |
2003 |
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
|
11280952 |
2001 |
|
Cystic Fibrosis
|
|
0.810 |
CausalMutation
|
CLINVAR |
Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.
|
11242048 |
2001 |
|
Cystic Fibrosis
|
|
0.810 |
CausalMutation
|
CLINVAR |
Cystic fibrosis: the 'bicarbonate before chloride' hypothesis.
|
11448786 |
2001 |
|
Cystic Fibrosis
|
|
0.810 |
CausalMutation
|
CLINVAR |
Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations.
|
10388469 |
1999 |
|
Cystic Fibrosis
|
|
0.810 |
CausalMutation
|
CLINVAR |
Regulation by ATP and ADP of CFTR chloride channels that contain mutant nucleotide-binding domains.
|
1382316 |
1992 |