Clinical and laboratory observationFamilial concordance of pancreatic function in cystic fibrosis†
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Cited by (44)
Cystic fibrosis
2019, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal DisordersCystic Fibrosis
2013, Emery and Rimoin's Principles and Practice of Medical GeneticsGenetic and physiologic correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening
2006, Journal of PediatricsCitation Excerpt :These molecules, if applied early, may preserve pancreatic function.24,25 The similarity of pancreatic disease among siblings with CF has long been known,26 and has been believed to be the underlying CF genotype. We identified similarities in IRT decline between individual siblings that have not previously been described that point to additional genetic factors, specifically modifier genes.
Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis
2002, GastroenterologyCitation Excerpt :Fluctuant measurements, which were obtained while patients were asymptomatic, probably reflect intermittent obstructive inspissation of focal pancreatic ductules. Analysis of families with more than one sibling with CF showed a remarkable concordance of pancreatic function status (PS, PI, or PS → PI) within families.2 A genetic basis for the different pancreatic phenotypes was confirmed by haplotype analysis of markers linked to the CF locus.
Genotype-phenotype relationships in cystic fibrosis
2000, Medical Clinics of North AmericaCitation Excerpt :The same situation is observed for mutations that are associated with pancreatic sufficiency. Preservation of pancreatic function was found to be highly concordant among affected siblings.10 Because affected siblings have identical genotypes at the CFTR locus, this observation indicated that the nature of the CF mutation was strongly correlated with pancreatic status.
Clinical implications of cystic fibrosis transmembrane conductance regulator mutations
1998, Clinics in Chest Medicine
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Supported by grants from the Canadian Cystic Fibrosis Foundation.
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Now at the Division of Gastroenterology, The Adelaide Children's Hospital, Adelaide, Australia.