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Pediatrics In Review, 2021
Cystic fibrosis (CF) is one of the most commonly diagnosed genetic disorders. Clinical characteristics include progressive obstructive lung disease, sinusitis, exocrine pancreatic insufficiency leading to malabsorption and malnutrition, liver and pancreatic dysfunction, and male infertility.
Kimberly M, Dickinson, Joseph M, Collaco
semanticscholar +6 more sources
Cystic fibrosis (CF) is one of the most commonly diagnosed genetic disorders. Clinical characteristics include progressive obstructive lung disease, sinusitis, exocrine pancreatic insufficiency leading to malabsorption and malnutrition, liver and pancreatic dysfunction, and male infertility.
Kimberly M, Dickinson, Joseph M, Collaco
semanticscholar +6 more sources
Current Problems in Pediatrics, 1993 The past few years have seen amazing progress in our understanding of the underlying cellular and molecular bases of CF. This new understanding has raised hopes for improved treatments in the very near future. These new treatments are expected to improve even further the prognosis for survival in this disorder, which has improved nearly 1 year for ...
M L, Aitken, S B, Fiel
europepmc +5 more sources
Nature Reviews Disease PrimersCystic fibrosis is a rare genetic disease caused by mutations in CFTR, the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR). The discovery of CFTR in 1989 has enabled the unravelling of disease mechanisms and, more recently, the development of CFTR-directed therapeutics that target the underlying molecular defect.
Marcus A. Mall +5 more
europepmc +5 more sources
The Lancet, 2009
Cystic fibrosis is the most common lethal genetic disease in white populations. The outlook for patients with the disease has improved steadily over many years, largely as a result of earlier diagnosis, more aggressive therapy, and provision of care in specialised centres.
O'Sullivan, Brian P. +1 more
semanticscholar +6 more sources
Cystic fibrosis is the most common lethal genetic disease in white populations. The outlook for patients with the disease has improved steadily over many years, largely as a result of earlier diagnosis, more aggressive therapy, and provision of care in specialised centres.
O'Sullivan, Brian P. +1 more
semanticscholar +6 more sources
Journal of the American Medical Association (JAMA), 2023
Importance Cystic fibrosis, a genetic disorder defined by variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, affects more than 30 000 individuals in the US and approximately 89 000 worldwide.
T. Ong, B. Ramsey
semanticscholar +1 more source
Importance Cystic fibrosis, a genetic disorder defined by variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, affects more than 30 000 individuals in the US and approximately 89 000 worldwide.
T. Ong, B. Ramsey
semanticscholar +1 more source
Pathology Patterns Reviews, 2003
On a daily basis, pathologists examine the fundamental basis of human diseases using morphologic, immunologic, and molecular techniques. Cystic fibrosis (CF), as a clinically heterogeneous disease, exemplifies the complex challenges of genetic diseases for the pathologist who attempts to explain the mechanisms of disease and provide rationale for ...
Myra J, Lewis +3 more
+7 more sources
On a daily basis, pathologists examine the fundamental basis of human diseases using morphologic, immunologic, and molecular techniques. Cystic fibrosis (CF), as a clinically heterogeneous disease, exemplifies the complex challenges of genetic diseases for the pathologist who attempts to explain the mechanisms of disease and provide rationale for ...
Myra J, Lewis +3 more
+7 more sources
Cystic fibrosis of the pancreas [PDF]
The American Journal of Medicine, 1956 It is generally recognized that the term "celiac syndrome" includes several pediatric disease entities which give rise to malnutrition, abnormal stools with steatorrhea, and multiple vitamin deficiencies. Of these various disorders the most important are idiopathic celiac disease and cystic fibrosis of the pancreas.
Alfredo M. Vidaurreta +1 more
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Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
Science, 1989Overlapping complementary DNA clones were isolated from epithelial cell libraries with a genomic DNA segment containing a portion of the putative cystic fibrosis (CF) locus, which is on chromosome 7.
J. Riordan +10 more
semanticscholar +2 more sources
Current Opinion in Infectious Diseases, 2002
Cystic fibrosis is the most common lethal inherited disorder with autosomal recessive inheritance. Major progress has been made in understanding the molecular mechanisms leading to increased susceptibility to Pseudomonas aeruginosa colonization. Persistent respiratory infection with P.
Amanda L, Brennan, Duncan M, Geddes
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Cystic fibrosis is the most common lethal inherited disorder with autosomal recessive inheritance. Major progress has been made in understanding the molecular mechanisms leading to increased susceptibility to Pseudomonas aeruginosa colonization. Persistent respiratory infection with P.
Amanda L, Brennan, Duncan M, Geddes
openaire +2 more sources