Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens

Human Reproduction

Volumn 15, Issue 7, 2000, Pages 1476-1483

  Casals, Teresa ^a   Bassas, Lluís ^b   Egozcue, Susanna ^b   Ramos, Maria D ^a   Giménez, Javier ^a   Segura, Ana ^b,e   Garcia, Ferran ^c   Carrera, Marta ^d   Larriba, Sara ^a   Sarquella, Joaquim ^b   Estivill, Xavier ^a  

^a HOSPITAL DURAN I REYNALS   (Spain)

^b FUNDACIÓ PUIGVERT   (Spain)

^c INSTITUT UNIVERSITARI DEXEUS   (Spain)

^d Centro de Patologia Celular   (Spain)

^e HOSPITAL GENERAL UNIVERSITARIO DE ALICANTE   (Spain)

Author keywords

CAVD; Cystic fibrosis; Obstructive azoospermia; Renal agenesis; Vas deferens

Indexed keywords

CHLORIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

AGENESIS; ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CORRELATION FUNCTION; CRYPTORCHISM; CYSTIC FIBROSIS; EJACULATORY DUCT; GENETIC HETEROGENEITY; HUMAN; HUMAN TISSUE; INGUINAL HERNIA; KIDNEY AGENESIS; KIDNEY ANOMALY; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; MUTATION; REGULATOR GENE; RESPIRATORY TRACT INFECTION; SEMINAL VESICLE; VAS DEFERENS;

EID: 0033803792     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/15.7.1476     Document Type: Article

References (37)

1. Congenital bilateral absence of vas deferens: A primarily genital form of cystic fibrosis
2. Congenital bilateral absence of vas deferens in the absence of cystic fibrosis
3. Extensive analysis of 40 infertile patients with congenital absence of vas deferens: In 50% of cases only one CFTR allele could be detected
4. High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes
5. Analysis of the CFTR gene in the Spanish population: SSCP screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1G→A and 3667de14)
6. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
7. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis
8. A rapid, efficient, and sensitive assay for simultaneous detection of multiplex cystic fibrosis mutations
9. Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of vas deferens
10. CFTR haplotype backgrounds on normal and mutant CFTR genes
11. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients
12. Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD
13. Foud adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype
14. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
15. Congenital bilateral absence of vas deferens in absence of cystic fibrosis
16. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine and iontophoresis
17. Men with congenital absence of the vas deferens often have seminal vesicles
18. Alfa-glucosidase as a specific enzyme marker. Its validity for the diagnosis of azoospermia
19. Genital abnormalities in male patients with cystic fibrosis
20. Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: Role of cystic fibrosis transmembrane conductance regulator gene mutations
21. Congenital absence of the vasa deferentia presenting with infertility
22. Identification of the cystic fibrosis gene: Genetic analysis
23. Identification of mutations in regions corresponding to the two putative (ATP) binding folds of the cystic fibrosis gene
24. Missense mutations in the cystic fibrosis gene in adult patients with asthma
25. Seminal plasma α-glucosidase activity and male infertility
26. Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia
27. Microsurgical aspiration of sperm from the epididymis: A mobile program
28. Congenital unilateral absence of the vas deferens: A heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene
29. Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers
30. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis
31. CFTR haplotype analysis reveals generic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens
32. Urogenital anomalies in men with congenital absence of the vas deferens
33. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis
34. Correlation between genito-urinary anomalies, semen analysis and CFTR genotype in patients with congenital bilateral absence of the vas deferens
35. Fertility in males with cystic fibrosis
36. Cystic fibrosis