D
Danuta Markiewicz
Researcher at University of Toronto
Publications - 24
Citations - 7245
Danuta Markiewicz is an academic researcher from University of Toronto. The author has contributed to research in topics: Cystic fibrosis & Cystic fibrosis transmembrane conductance regulator. The author has an hindex of 20, co-authored 24 publications receiving 7115 citations.
Papers
More filters
Journal ArticleDOI
Identification of the cystic fibrosis gene: genetic analysis.
Batsheva Kerem,Johanna M. Rommens,Janet A. Buchanan,Danuta Markiewicz,Tara K. Cox,Aravinda Chakravarti,Manuel Buchwald,Lap-Chee Tsui +7 more
TL;DR: Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations.
Journal ArticleDOI
The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).
Eitan Kerem,Mary Corey,Batsheva Kerem,Johanna M. Rommens,Danuta Markiewicz,Henry Levison,Lap-Chee Tsui,Peter R. Durie +7 more
TL;DR: The variable clinical course in patients with cystic fibrosis can be attributed at least in part to specific genotypes at the locus of the cystic Fibrosis gene.
Journal ArticleDOI
Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker
Lap-Chee Tsui,Manuel Buchwald,D. Barker,Jeffrey C. Braman,Robert G. Knowlton,James W. Schumm,Hans Eiberg,Jan Mohr,Dara Kennedy,Natasa Plavsic,Martha Zsiga,Danuta Markiewicz,Gita Akots,Valerie K. Brown,Cynthia Helms,Thomas C. Gravius,Carol A. Parker,Kenneth S. Rediker,Helen Donis-Keller +18 more
TL;DR: The discovery of a linked DNA polymorphism is the first step in molecular analysis of the CF gene and its causative role in the disease.
Journal ArticleDOI
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.
Batsheva Kerem,Julian Zielenski,Danuta Markiewicz,Dominique Bozon,E Gazit,J Yahav,Dara Kennedy,John R. Riordan,Francis S. Collins,Johanna M. Rommens +9 more
TL;DR: The highly heterogeneous nature of the remaining CF mutations provides important insights into the structure and function of the protein, but it also suggests that DNA-based genetic screening for CF carrier status will not be straightforward.
Journal Article
Genetic determination of exocrine pancreatic function in cystic fibrosis.
P. Kristidis,Dominique Bozon,Mary Corey,Danuta Markiewicz,Johanna M. Rommens,Lap-Chee Tsui,Peter R. Durie +6 more
TL;DR: In this paper, the pancreatic function status of cystic fibrosis patients was correlated to mutations in the CF transmembrane conductance regulator (CFTR) gene, showing that approximately 10% of the mutant alleles may confer pancreatic sufficiency.