Cystic fibrosis: A worldwide analysis of CFTR mutations—correlation with incidence data and application to screening

JL Bobadilla, M Macek Jr, JP Fine… - Human mutation, 2002 - Wiley Online Library
Although there have been numerous reports from around the world of mutations in the gene
of chromosome 7 known as CFTR (cystic fibrosis transmembrane conductance regulator) …

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens

M Chillón, T Casals, B Mercier, L Bassas… - … England Journal of …, 1995 - Mass Medical Soc
Background Congenital bilateral absence of the vas deferens (CBAVD) is a form of male
infertility in which mutations in the cystic fibrosis transmembrane conductance regulator …

Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities

W Lissens, B Mercier, H Tournaye… - Human …, 1996 - academic.oup.com
The condition of congenital bilateral absence of the vas deferens (CBAVD) is, in the majority
of patients, related to defects in the cystic fibrosis transmembrane conductance regulator …

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations

X Estivill, C Bancells, C Ramos - Human mutation, 1997 - Wiley Online Library
The geographic distribution of 272 cystic fibrosis (CF) mutations has been studied by
assessing the origin of 27,177 CF chromosomes from 29 European countries and three …

A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+ 1.6 kbA--> G, produces a new exon: high frequency in Spanish cystic fibrosis …

M Chillon, T Dörk, T Casals, J Gimenez… - American journal of …, 1995 - ncbi.nlm.nih.gov
Abstract mRNA analysis of the cystic fibrosis transmembrane regulator (CFTR) gene in
tissues of cystic fibrosis (CF) patients has allowed us to detect a cryptic exon. The new exon …

Genetics of agenesis/hypoplasia of the uterus and vagina: Narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome

S Mikhael, S Dugar, M Morton, LP Chorich, KB Tam… - Human genetics, 2021 - Springer
Abstract Purpose Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome consists of
congenital absence of the uterus and vagina and is often associated with renal, skeletal …

Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected

T Casals, L Bassas, J Ruiz-Romero, M Chillon… - Human genetics, 1995 - Springer
Mutations in the cystic fibrosis (CF) conductance transmembrane regulator (CFTR) gene
have been detected in patients with CF and in males with infertility attributable to congenital …

Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients

MO Kılınç, VN Ninis, E Dağlı, M Demirkol… - American journal of …, 2002 - Wiley Online Library
We analyzed the CFTR locus in 83 Turkish cystic fibrosis patients to identify mutations,
haplotypes, and the carrier frequency in the population. We detected 36 different mutations …

Establishment of predictive variables associated with testicular sperm retrieval in men with non-obstructive azoospermia

UIO Ezeh, NA Taub, HDM Moore… - Human …, 1999 - academic.oup.com
Although testicular biopsy for sperm extraction is a procedure with a potential for
complications, sperm retrieval is successful in 30–70% of patients with non-obstructive …

Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)

T Onay, O Topaloglu, J Zielenski, N Gokgoz… - Human genetics, 1998 - Springer
In order to determine the spectrum of cystic fibrosis (CF) mutations in the Turkish population,
a complete coding region of the cystic fibrosis transmembrane conductance regulator …