Results 371 to 380 of about 1,046,440 (397)
Some of the next articles are maybe not open access.
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
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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
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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
Pediatric Diabetes, 2018
Cystic fibrosis (CF) is the most common lethal genetic autosomal recessive disease in Caucasians, with a worldwide prevalence of 1 in ~2500 live births. Cystic fibrosis related diabetes (CFRD) is the most common co-morbidity in CF.
A. Moran +5 more
semanticscholar +1 more source
Cystic fibrosis (CF) is the most common lethal genetic autosomal recessive disease in Caucasians, with a worldwide prevalence of 1 in ~2500 live births. Cystic fibrosis related diabetes (CFRD) is the most common co-morbidity in CF.
A. Moran +5 more
semanticscholar +1 more source
Is it cystic fibrosis? The challenges of diagnosing cystic fibrosis
Paediatric Respiratory Reviews, 2019The spectrum of conditions caused by abnormal CFTR function is broad - from 'classic' cystic fibrosis (CF) to single organ conditions termed CFTR-related disorders. Defining and securing the diagnosis in an important minority of patients can be a challenge as the sweat test is equivocal or normal; the impact this has on the patient (at different stages
openaire +3 more sources
Annals of the American Thoracic Society, 2018
On May 17, 2017, the U.S. Food and Drug Administration expanded the patient population for use of ivacaftor to include patients with cystic fibrosis with relatively rare mutations in the cystic fibrosis transmembrane conductance regulator gene. The label
A. Durmowicz +4 more
semanticscholar +1 more source
On May 17, 2017, the U.S. Food and Drug Administration expanded the patient population for use of ivacaftor to include patients with cystic fibrosis with relatively rare mutations in the cystic fibrosis transmembrane conductance regulator gene. The label
A. Durmowicz +4 more
semanticscholar +1 more source
Clinics in Perinatology, 2001
Although mutation detection rates have not universally reached the 95% detection level recommended by the American Society of Human Genetics and are not likely to exceed 90% for many populations in the foreseeable future, CF carrier screening will probably be offered routinely in the near future.
L P, Shulman, S, Elias
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Although mutation detection rates have not universally reached the 95% detection level recommended by the American Society of Human Genetics and are not likely to exceed 90% for many populations in the foreseeable future, CF carrier screening will probably be offered routinely in the near future.
L P, Shulman, S, Elias
openaire +2 more sources
Science Translational Medicine, 2016
Rectal organoids from subjects with cystic fibrosis can be used to assess responses to drugs that modulate CFTR. Mini-guts for personalized cystic fibrosis therapy Cystic fibrosis is caused by mutations in the CFTR gene that severely reduce the function ...
J. Dekkers +18 more
semanticscholar +1 more source
Rectal organoids from subjects with cystic fibrosis can be used to assess responses to drugs that modulate CFTR. Mini-guts for personalized cystic fibrosis therapy Cystic fibrosis is caused by mutations in the CFTR gene that severely reduce the function ...
J. Dekkers +18 more
semanticscholar +1 more source
The Cystic Fibrosis Foundation
, 2017Scientific): No more than 250 words (up to 2,000 characters max, including spaces) Hypothesis and Specific Aims. State concisely and realistically the intent of the proposed research and the hypothesis to be tested.
Ben Birkman
semanticscholar +1 more source
Annals of the American Thoracic Society, 2016
RATIONALE The Cystic Fibrosis Foundation Patient Registry (CFFPR) is an ongoing patient registry study that collects longitudinal demographic, clinical, and treatment information about persons with cystic fibrosis (CF) in the United States.
Emily A. Knapp +8 more
semanticscholar +1 more source
RATIONALE The Cystic Fibrosis Foundation Patient Registry (CFFPR) is an ongoing patient registry study that collects longitudinal demographic, clinical, and treatment information about persons with cystic fibrosis (CF) in the United States.
Emily A. Knapp +8 more
semanticscholar +1 more source
Primary Care: Clinics in Office Practice, 1977
Cystic fibrosis has been regarded as a disease of infants. Yet, with improved management, a high percentage of patients how survive into young adulthood. In addition, mild cases may not be detected until long after infance. The older patient often has minimal symptoms, and the majority are socially active and productive.
openaire +2 more sources
Cystic fibrosis has been regarded as a disease of infants. Yet, with improved management, a high percentage of patients how survive into young adulthood. In addition, mild cases may not be detected until long after infance. The older patient often has minimal symptoms, and the majority are socially active and productive.
openaire +2 more sources