Diagnostics of CFTR-negative patients with congenital bilateral absence of vas deferens: which mutations are of most interest?

被引:4
|
作者
Ferlin, Alberto [1 ]
Stuppia, Liborio [2 ]
机构
[1] Univ Brescia, Unit Endocrinol & Metab, Dept Clin & Expt Sci, Viale Europa 11, I-25123 Brescia, Italy
[2] G dAnnunzio Univ Chieti Pescara, CESI MeT, Dept PsychologicalHlth & Terr Sci, Pescara, Italy
关键词
Azoospermia; congenital absence of vas deferens; CBAVD; CFTR; cystic fibrosis; male infertility; CYSTIC-FIBROSIS; MALE-INFERTILITY; GENE; ADGRG2; CBAVD;
D O I
10.1080/14737159.2020.1707081
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
引用
收藏
页码:265 / 267
页数:3
相关论文
共 50 条
  • [1] Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens
    Dayangaç, D
    Erdem, H
    Yilmaz, E
    Sahin, A
    Sohn, C
    Özgüç, M
    Dörk, T
    HUMAN REPRODUCTION, 2004, 19 (05) : 1094 - 1100
  • [2] CFTR mutations in congenital absence of vas deferens
    Radpour, Ramin
    Salahshourifar, Iman
    Gourabi, Hamid
    Gilani, Mohamad Ali Sadighi
    Dizaj, Ahmad Vosough
    IRANIAN JOURNAL OF FERTILITY & STERILITY, 2007, 1 (01): : 1 - 10
  • [3] Congenital bilateral absence of the vas deferens and recombination at CFTR
    David Haig
    European Journal of Human Genetics, 2006, 14 : 801 - 801
  • [4] Mutations in CFTR gene and clinical correlation in argentine patients with congenital bilateral absence of the vas deferens
    Levy, EM
    Granados, P
    Rawe, V
    Olmedo, SB
    Luna, MC
    Cafferata, E
    Pivetta, OH
    MEDICINA-BUENOS AIRES, 2004, 64 (03) : 213 - 218
  • [5] CFTR gene mutations and clinical correlation in Indian patients with congenital bilateral absence of the vas deferens
    Kumar, Jain Manish
    Saraf, D. K.
    RESEARCH JOURNAL OF BIOTECHNOLOGY, 2012, 7 (02): : 43 - 45
  • [6] CFTR Gene mutations and Clinical correlation in Indian patients with Congenital Bilateral Absence of the Vas Deferens
    Kumar, Jain Manish
    Saraf, D. K.
    RESEARCH JOURNAL OF BIOTECHNOLOGY, 2012, 7 (01): : 64 - 66
  • [7] Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene
    Onay, T
    Kayserili, H
    Apak, MY
    Kirdar, B
    CLINICAL GENETICS, 1999, 55 (01) : 63 - 64
  • [8] CFTR mutations panel of Persian males with congenital bilateral absence of the vas deferens.
    Radpour, R.
    Gourabi, H.
    Sadighi Gilani, M.
    Vosough Dizaj, A.
    Mollamohamadi, S.
    FERTILITY AND STERILITY, 2006, 86 : S375 - S375
  • [9] CFTR Exon 10 deleterious mutations in patients with congenital bilateral absence of vas deferens in a cohort of Pakistani patients
    Bakhat, Khush
    Mateen, Irsa
    Saif, Hina
    Anwar, Kanwal
    Sarfraz, Sadaf
    Javaid, Sheza
    Khaleeq-ur-Rehman
    Arshad, Adnan
    Mustafa, Muhammad
    ARCHIVIO ITALIANO DI UROLOGIA E ANDROLOGIA, 2024, 96 (03)
  • [10] SCREENING FOR CFTR MUTATIONS IN PATIENTS WITH CONGENITAL BILATERAL APLASIA OF THE VAS-DEFERENS
    MESCHEDE, D
    EIGEL, A
    NIESCHLAG, E
    HORST, J
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 1153 - 1153