Results 221 to 230 of about 925,943 (256)
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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
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
openaire +5 more sources
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
openaire +2 more sources
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
2010
Abstract Cystic fibrosis (CF) is a recessively inherited disease caused by mutations in the cystic fibrosis gene, located on the long arm of chromosome 7, which codes for a membrane protein—the cystic fibrosis transmembrane regulator protein—that is a chloride channel.
Andrew Bush, Caroline Elston
openaire +1 more source
Abstract Cystic fibrosis (CF) is a recessively inherited disease caused by mutations in the cystic fibrosis gene, located on the long arm of chromosome 7, which codes for a membrane protein—the cystic fibrosis transmembrane regulator protein—that is a chloride channel.
Andrew Bush, Caroline Elston
openaire +1 more source
Lung, 1994
While the care of cystic fibrosis (CF) patients has been mainly the province of pediatricians, great improvements in the therapy and life span of CF patients often results in their transition to care by adult physicians. In this review of CF, we begin with an overview of the epidemiology and genetics of the disease, with a discussion of the recently ...
M R, Bye, J M, Ewig, L M, Quittell
openaire +2 more sources
While the care of cystic fibrosis (CF) patients has been mainly the province of pediatricians, great improvements in the therapy and life span of CF patients often results in their transition to care by adult physicians. In this review of CF, we begin with an overview of the epidemiology and genetics of the disease, with a discussion of the recently ...
M R, Bye, J M, Ewig, L M, Quittell
openaire +2 more sources