Amniocentesis and genetic diagnostic-key points, for prognostic of fetes carrier of cystic fibrosis mutation

2008 ◽  
Vol 29 (S 1) ◽  
Author(s):  
D Albu ◽  
D Pelinescu-Onciul
Keyword(s):  
Cystic Fibrosis ◽  
Cystic Fibrosis Mutation ◽  
Key Points ◽  
Diagnostic Key

scholarly journals A hypothesis regarding the origin and spread of the cystic fibrosis mutation ΔF508

QJM ◽  
2000 ◽  
Vol 93 (5) ◽  
pp. 313-315 ◽  
Author(s):  
K.P. Dawson ◽  
P.M. Frossard
Keyword(s):  
Cystic Fibrosis ◽  
Cystic Fibrosis Mutation

scholarly journals Solubilizing Mutations Used to Crystallize One CFTR Domain Attenuate the Trafficking and Channel Defects Caused by the Major Cystic Fibrosis Mutation

2008 ◽  
Vol 15 (1) ◽  
pp. 62-69 ◽  
Author(s):  
Luísa S. Pissarra ◽  
Carlos M. Farinha ◽  
Zhe Xu ◽  
André Schmidt ◽  
Patrick H. Thibodeau ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Cystic Fibrosis Mutation

Identification of a rare cystic fibrosis mutation (S4X) in a Slovenian population

1993 ◽  
Vol 2 (3) ◽  
pp. 315-316 ◽  
Author(s):  
Damjan Glavac ◽  
Metka Ravnik-Glavac ◽  
Michael Dean
Keyword(s):  
Cystic Fibrosis ◽  
Cystic Fibrosis Mutation ◽  
Slovenian Population

Cystic Fibrosis Mutation and Associated Haplotypes in Turkish Cystic Fibrosis Patients

Human Biology ◽  
2001 ◽  
Vol 73 (2) ◽  
pp. 191-203 ◽  
Author(s):  
Tuncer Onay ◽  
Julian Zielenski ◽  
Ozlem Topaloglu ◽  
Nalan Gokgoz ◽  
Hulya Kayserili ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Cystic Fibrosis Mutation

Association of pancreatic adenocarcinoma, mild lung disease, and delta F508 mutation in a cystic fibrosis patient

1994 ◽  
Vol 40 (10) ◽  
pp. 1972-1974 ◽  
Author(s):  
G J Tsongalis ◽  
G Faber ◽  
F G Dalldorf ◽  
K J Friedman ◽  
L M Silverman ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
General Population ◽  
Lung Disease ◽  
Genetic Disease ◽  
Obstructive Lung Disease ◽  
Malignant Disease ◽  
Molecular Data ◽  
Cystic Fibrosis Mutation ◽  
First Case ◽  
Adenocarcinoma Of The Pancreas

Abstract A case of adenocarcinoma of the pancreas and mild lung disease in a 39-year-old man homozygous for the delta F508 cystic fibrosis mutation is presented. Cystic fibrosis is the most common lethal genetic disease in Caucasians, and is most commonly associated with severe obstructive lung disease. To our knowledge, this is only the fifth case of adenocarcinoma of the pancreas in a CF patient to be reported and the first case for which molecular data are available. The rare incidence of this type of malignancy in the general population suggests a possible association of CF with this malignant disease.

scholarly journals Novel cystic fibrosis mutation L1093P: Functional analysis and possible Native American origin

2000 ◽  
Vol 15 (2) ◽  
pp. 208-208 ◽  
Author(s):  
Kevin Yee ◽  
Clare Robinson ◽  
Gregory Hurlock ◽  
Richard B. Moss ◽  
Jeffrey J. Wine
Keyword(s):  
Cystic Fibrosis ◽  
Functional Analysis ◽  
Native American ◽  
Cystic Fibrosis Mutation
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