DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis.

BS Kerem, JA Buchanan, P Durie… - American journal of …, 1989 - ncbi.nlm.nih.gov
Patients with cystic fibrosis (CF) generally suffer from chronic obstructive lung disease,
pancreatic insufficiency (PI), and a number of other exocrine malfunctions. Approximately …

Genetic determination of exocrine pancreatic function in cystic fibrosis.

P Kristidis, D Bozon, M Corey… - American journal of …, 1992 - ncbi.nlm.nih.gov
We showed elsewhere that the pancreatic function status of cystic fibrosis (CF) patients
could be correlated to mutations in the CF transmembrane conductance regulator (CFTR) …

[引用][C] Genotype‐phenotype correlations in cystic fibrosis

E Kerem, B Kerem - Pediatric pulmonology, 1996 - Wiley Online Library
Cystic fibrosis (CF) is the most common inherited disease among Caucasians. It is caused
by defects in the CF transmembrane conductance regulator (CFTR) gene, which encodes a …

The Relation between Genotype and Phenotype in Cystic Fibrosis — Analysis of the Most Common Mutation (ΔF508)

E Kerem, M Corey, B Kerem, J Rommens… - … England Journal of …, 1990 - Mass Medical Soc
Abstract Background and Methods. Both the clinical manifestations of cystic fibrosis and the
genotypes of patients are heterogeneous, but the associations between the two are not …

Tracing the mutations in cystic fibrosis by means of closely linked DNA markers.

LC Tsui - American Journal of Human Genetics, 1989 - ncbi.nlm.nih.gov
Although the gene responsible for cystic fibrosis (CF) has yet to be identified, a great deal
has already been learned about the mutations of this autosomal reces-sive disorder. The …

Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial …

X Estivill, R Llevadot, J Giménez, V Nunes, T Casals… - Human genetics, 1995 - Springer
We present the genotype/phenotype correlation analysis for 16 cystic fibrosis (CF) patients
who carry mutation R334W. Current age and age of diagnosis was significantly higher in the …

Pancreatic function and gene deletion F508 in cystic fibrosis.

G Borgo, G Mastella, P Gasparini… - Journal of medical …, 1990 - jmg.bmj.com
In view of the possible relation between pancreatic function and cystic fibrosis (CF) gene
mutations, a detailed study on Italian patients was performed. Seventy pancreatic insufficient …

Identification of the cystic fibrosis gene: genetic analysis

B Kerem, JM Rommens, JA Buchanan, D Markiewicz… - Science, 1989 - science.org
Approximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific
deletion of three base pairs, which results in the loss of a phenylalanine residue at amino …

Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis

C Durno, M Corey, J Zielenski, E Tullis, LC Tsui… - Gastroenterology, 2002 - Elsevier
Background & Aims: Pancreatitis is known to occur in some patients with cystic fibrosis (CF),
but the prevalence, natural history, and genotypic basis are unclear. We examined a well …

Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations

V Brancolini, L Cremonesi, E Belloni, E Pappalardo… - Human genetics, 1995 - Springer
A cohort of 31 cystic fibrosis patients showing pancreatic sufficiency and bearing an
unidentified mutation on at least one chromosome was analyzed through denaturing …