Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C)

Cftr Gene ◽

Novel Mutations ◽

Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations

European Journal of Pediatrics ◽

10.1007/s004310051277 ◽

2000 ◽

Vol 159 (5) ◽

pp. 303-309 ◽

Cited By ~ 30

Author(s):

M. Kambouris ◽

H. Banjar ◽

I. Moggari ◽

H. Nazer ◽

M. Al-Hamed ◽

...

Keyword(s):

Cystic Fibrosis ◽

Detection Rate ◽

Mutation Detection ◽

Novel Mutations ◽

Mutation Detection Rate ◽

15 Frequency of mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in a cohort of consecutive patients candidate for assisted reproductive techniques

Journal of Cystic Fibrosis ◽

10.1016/s1569-1993(12)60184-2 ◽

2012 ◽

Vol 11 ◽

pp. S59

Author(s):

M. Rongioletti ◽

F. Papa ◽

M.B. Majolini ◽

C. Vaccarella ◽

I. Simonelli ◽

...

Keyword(s):

Cystic Fibrosis ◽

Assisted Reproductive Techniques ◽

Cftr Gene ◽

Reproductive Techniques ◽

6 Statistical analysis of frequencies of mutations in the cystic fibrosis transmembrane regulator (CFTR) gene and their associations with IVS8 poly-T and Y chromosomal microdeletions

Journal of Cystic Fibrosis ◽

10.1016/s1569-1993(11)60028-3 ◽

2011 ◽

Vol 10 ◽

pp. S2

Author(s):

M.C.A. Rongioletti ◽

F. Papa ◽

M.B. Majolini ◽

V Panetta ◽

C. Vaccarella ◽

...

Keyword(s):

Cystic Fibrosis ◽

Statistical Analysis ◽

Cftr Gene ◽

A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transmembrane regulator (CFTR) gene

Gene ◽

10.1016/j.gene.2012.01.061 ◽

2012 ◽

Vol 497 (1) ◽

pp. 90-92 ◽

Cited By ~ 4

Author(s):

Anna Diana ◽

Riccardina Tesse ◽

Angela M. Polizzi ◽

Teresa Santostasi ◽

Antonio Manca ◽

...

Keyword(s):

Cystic Fibrosis ◽

Large Deletion ◽

Cftr Gene ◽

Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas

Gut ◽

10.1136/gut.52.8.1159 ◽

2003 ◽

Vol 52 (8) ◽

pp. 1159-1164 ◽

Cited By ~ 106

Author(s):

N Ahmed

Keyword(s):

Cystic Fibrosis ◽

Exocrine Pancreas ◽

Gene Mutations ◽

Cftr Gene ◽

Cftr Gene Mutations ◽

Analysis of mutations in the cystic fibrosis transmembrane regulator (CFTR) gene in patients with obstructive azoospermia

Genetics and Molecular Biology ◽

10.1590/s1415-47572003000100001 ◽

2003 ◽

Vol 26 (1) ◽

pp. 1-3 ◽

Cited By ~ 7

Author(s):

Andrea L.F. Bernardino ◽

Cintia E. Lima ◽

Mayana Zatz

Keyword(s):

Cystic Fibrosis ◽

Cftr Gene ◽

Obstructive Azoospermia ◽

P-020 Analysis of cystic fibrosis transmembrane regulator (CFTR) gene mutations in men with congenital agenesis of vas deferens

Fertility and Sterility ◽

10.1016/s0015-0282(97)90837-2 ◽

1997 ◽

Vol 68 ◽

pp. S102

Author(s):

B Thamm ◽

S Strenge ◽

H Reichenbach ◽

D Wand ◽

U.G Froster

Keyword(s):

Cystic Fibrosis ◽

Vas Deferens ◽

Gene Mutations ◽

Cftr Gene ◽

Cftr Gene Mutations ◽

Congenital Agenesis ◽

PD52-01 CYSTIC FIBROSIS TRANSMEMBRANE REGULATOR (CFTR) GENE SEQUENCING IDENTIFIES DIFFERENT MUTATIONS WHEN COMPARED WITH ROUTINE MUTATION SCREENING IN AZOOSPERMIC MEN

The Journal of Urology ◽

10.1016/j.juro.2015.02.1775 ◽

2015 ◽

Vol 193 (4S) ◽

Author(s):

Alexander W. Pastuszak ◽

Evan P. Wenker ◽

Tariq S. Hakky ◽

Aravind Chandrashekar ◽

Ranjith Ramasamy ◽

...

Keyword(s):

Cystic Fibrosis ◽

Mutation Screening ◽

Gene Sequencing ◽

Cftr Gene ◽

A new polymorphism in exon 7 of the cystic fibrosis transmembrane regulator (CFTR) gene

Human Genetics ◽

10.1007/bf00208980 ◽

1995 ◽

Vol 95 (4) ◽

pp. 465-466 ◽

Cited By ~ 1

Author(s):

Lidija Petreska ◽

Svetlana Kočeva ◽

Aleksandra Gordova-Muratovska ◽

Georgi Dimitar Efremov

Keyword(s):

Cystic Fibrosis ◽

Cftr Gene ◽

A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient

Human Molecular Genetics ◽

10.1093/hmg/3.2.369 ◽

1994 ◽

Vol 3 (2) ◽

pp. 369-370 ◽

Cited By ~ 3

Author(s):

Jean-Francois Culard ◽

Marie Desgeorges ◽

Marie-Catherine Romey ◽

Perrine Malzac ◽

Jacques Demaille ◽

...

Keyword(s):

Cystic Fibrosis ◽

Splice Site ◽

Splice Site Mutation ◽

Cftr Gene ◽

Site Mutation ◽