|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The compound heterozygote cystic fibrosis (CF) mutation Phe508del with Arg117His-7T should not necessarily be considered benign in childhood.
|
18394117 |
2008 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
|
18456578 |
2008 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
|
17761616 |
2007 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Since our screening protocol has enabled detection of R117H (ie, in 1995), 360466 newborns have been screened for cystic fibrosis in Brittany, of whom 124 had elevated immunoreactive trypsin and 2 mutations in the CFTR gene.
|
17015492 |
2006 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8.
|
16266832 |
2006 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Since our screening protocol has enabled detection of R117H (ie, in 1995), 360466 newborns have been screened for cystic fibrosis</span> in Brittany, of whom 124 had elevated immunoreactive trypsin and 2 mutations in the CFTR gene.
|
17015492 |
2006 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Cystic fibrosis mutational analysis identified seven patients who had the R117H mutation.
|
15997883 |
2005 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
15789152 |
2005 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
|
15371902 |
2005 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice.
|
15246977 |
2004 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
We defined another group with 6 patients (18%), with normal sweat chloride levels (30-39 mmo/l) and a fourth group of 14 (41%) patients with sweat chloride below 30 mmol/l. deltaF508, the most frequent CF mutation in the Argentine population, was found on 15 of the 72 chromosomes (21%), R117H mutation was detected on 2 of 62 chromosomes (3%).
|
15239534 |
2004 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Standards and guidelines for CFTR mutation testing.
|
12394352 |
2003 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study.
|
12767731 |
2003 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations.
|
11737931 |
2001 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
|
11280952 |
2001 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.
|
11168024 |
2001 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.
|
11491164 |
2001 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens.
|
10653141 |
2000 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Molecular basis of hereditary pancreatitis.
|
10909845 |
2000 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The severity of the CF phenotype is partly dependent on the IVS8 background on which R117H occurs; thus, it is important to be able to test clinically for both these variants.
|
11070158 |
2000 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Adenosine and its nucleotides activate wild-type and R117H CFTR through an A2B receptor-coupled pathway.
|
9950763 |
1999 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
In this report, we present an asymptomatic infant, seen for a second opinion, who was given the diagnosis of cystic fibrosis (CF) as a neonate based on the presence of two mutant alleles, DeltaF508 and R117H.
|
10103316 |
1999 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
In this report, we present an asymptomatic infant, seen for a second opinion, who was given the diagnosis of cystic fibrosis (CF) as a neonate based on the presence of two mutant alleles, DeltaF508 and R117H.
|
10103316 |
1999 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Screening for cystic fibrosis transmembrane conductance regulator gene mutations in men included in an intracytoplasmic sperm injection programme.
|
10341008 |
1999 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (deltaF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (deltaF508, R117H, and IVS8-5T) were analyzed.
|
9591500 |
1998 |