Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens.
|
24559724 |
2014 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations.
|
9683582 |
1998 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Detection of CFTR mutations using temporal temperature gradient gel electrophoresis.
|
15300780 |
2004 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.
|
9259197 |
1997 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.
|
17662673 |
2008 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities.
|
9254864 |
1997 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR.
|
7691345 |
1993 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Heterogeneity in hereditary pancreatitis.
|
9557894 |
1998 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens.
|
15333598 |
2004 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.
|
10425036 |
1999 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.
|
15776432 |
2005 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
CFTR2: How will it help care?
|
23466340 |
2013 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories.
|
8680406 |
1995 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients.
|
1283149 |
1992 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties.
|
7680769 |
1993 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis.
|
17495464 |
2007 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners.
|
20021716 |
2009 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Exogenous and endogenous determinants of vitamin K status in cystic fibrosis.
|
26160248 |
2015 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Unique mutations of the cystic fibrosis transmembrane conductance regulator gene of three cases of cystic fibrosis in Nagasaki, Japan.
|
19652440 |
2009 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease.
|
9259194 |
1997 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.
|
11168024 |
2001 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
|
20949073 |
2010 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cystic fibrosis mutations lead to carboxyl-terminal fragments that highlight an early biogenesis step of the cystic fibrosis transmembrane conductance regulator.
|
10764788 |
2000 |
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 |
CausalMutation
|
disease |
CLINVAR |
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
|
18456578 |
2008 |