Cystic Fibrosis
|
|
0.840 |
GeneticVariation
|
CLINVAR |
|
|
|
Cystic Fibrosis
|
|
0.840 |
CausalMutation
|
CLINVAR |
|
|
|
Cystic Fibrosis
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
|
11280952 |
2001 |
Cystic Fibrosis
|
|
0.840 |
GeneticVariation
|
BEFREE |
It is concluded that I148T occurs on at least three haplotypes and the complex allele I148T + 9T + 3199del6 is associated with a classic CF phenotype.
|
12394343 |
2003 |
Cystic Fibrosis
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Standards and guidelines for CFTR mutation testing.
|
12394352 |
2003 |
Cystic Fibrosis
|
|
0.840 |
GeneticVariation
|
BEFREE |
Four CF patients (out of 1238) originally identified as carrying the p.I148T mutation in trans with a CF mutation had a second mutation (c.3199del6 or a novel mutation c.3395insA) on the p.I148T allele.
|
15287992 |
2004 |
Cystic Fibrosis
|
|
0.840 |
GeneticVariation
|
BEFREE |
We developed a 51-mutation extended cystic fibrosis (CF) panel that incorporates the 25 previously recommended CFTR mutations, plus 26 additional mutations including 3199del6, which was associated with I148T.
|
15371908 |
2005 |
Cystic Fibrosis
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
15789152 |
2005 |
Cystic Fibrosis
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
|
17761616 |
2007 |
Cystic Fibrosis
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
|
19914445 |
2009 |
Cystic Fibrosis
|
|
0.840 |
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
|
|
0.840 |
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
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
|
20675678 |
2010 |
Cystic Fibrosis
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
|
20605539 |
2010 |
Cystic Fibrosis
|
|
0.840 |
GeneticVariation
|
UNIPROT |
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
|
21422883 |
2011 |
Cystic Fibrosis
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
Cystic Fibrosis
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
|
24014130 |
2014 |
Cystic Fibrosis
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
|
25431289 |
2014 |
Cystic Fibrosis
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
|
25981758 |
2015 |
Cystic Fibrosis
|
|
0.840 |
GeneticVariation
|
BEFREE |
The p.[Ile148Thr;Ile1023_Val1024del] caused severe CF in five compound heterozygous with a class I-II mutation.
|
27738188 |
2017 |