We have confirmed heterogenity in C F using a different combination of primary clinical variables than those used in previous studies. Subgroupings of individuals with similar levels of sweat chloride were independent of the clustering based on level of pancreatic enzyme supplementation and degree of pulmonary involve-ment. Data from families with multiple CF children are consistent with the hypothesis that the genetic etiology of C F involves two or more genes that modify the expression of the primary gene defect. Key words: cystic fibrosis, phenotype heterogeneity, familial aggregatio
We report an example of atypical CF, i.e., a family in which three siblings were affected by late-di...
AbstractWe report an example of atypical CF, i.e., a family in which three siblings were affected by...
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identifi...
We have confirmed heterogenity in CF using a different combination of primary clinical variables tha...
Genetic, environmental, and stochastic factors contribute to phenotype variation of diseases in chil...
We have reinvestigated a classification of clinical heterogeneity among cystic fibrosis (CF) patient...
Here, we describe a cystic fibrosis (CF) family with affected siblings, two of whom have a combinati...
Background and methods. Both the clinical manifestations of cystic fibrosis and the genotypes of pat...
[No abstract available] Letter Comment in Phenotypic heterogeneity in CF sibs compound het...
The high incidence of cystic fibrosis (CF) in most European populations (and populations of European...
More than 1,000 mutations have been identified in the cystic fibrosis (CF) transmembrane regulator (...
The members of the Cystic Fibrosis Genotype-Phenotype Consortium are listed in the AppendixBackgroun...
More than 1,000 mutations have been identified in the cystic fibrosis (CF) transmembrane regulator (...
Background: A clinical heterogeneity was reported in patients with Cystic Fibrosis (CF) with the sam...
We aimed to evaluate type, frequency, and variety of pathogenic variants according to clinical and d...
We report an example of atypical CF, i.e., a family in which three siblings were affected by late-di...
AbstractWe report an example of atypical CF, i.e., a family in which three siblings were affected by...
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identifi...
We have confirmed heterogenity in CF using a different combination of primary clinical variables tha...
Genetic, environmental, and stochastic factors contribute to phenotype variation of diseases in chil...
We have reinvestigated a classification of clinical heterogeneity among cystic fibrosis (CF) patient...
Here, we describe a cystic fibrosis (CF) family with affected siblings, two of whom have a combinati...
Background and methods. Both the clinical manifestations of cystic fibrosis and the genotypes of pat...
[No abstract available] Letter Comment in Phenotypic heterogeneity in CF sibs compound het...
The high incidence of cystic fibrosis (CF) in most European populations (and populations of European...
More than 1,000 mutations have been identified in the cystic fibrosis (CF) transmembrane regulator (...
The members of the Cystic Fibrosis Genotype-Phenotype Consortium are listed in the AppendixBackgroun...
More than 1,000 mutations have been identified in the cystic fibrosis (CF) transmembrane regulator (...
Background: A clinical heterogeneity was reported in patients with Cystic Fibrosis (CF) with the sam...
We aimed to evaluate type, frequency, and variety of pathogenic variants according to clinical and d...
We report an example of atypical CF, i.e., a family in which three siblings were affected by late-di...
AbstractWe report an example of atypical CF, i.e., a family in which three siblings were affected by...
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identifi...
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