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

来源：

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS | 2020年 / 20卷 / 03期

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

页码：265 / 267

页数：3

共 50 条

[11] Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree
Li, Lingyi
Qu, Xiaowei
Cui, Chenchen
Feng, Ke
Xia, Yanqing
Wan, Feng
Ge, Hengtao
Fang, Yinghong
Zhang, Cuilian
Guo, Haibin
MOLECULAR GENETICS & GENOMIC MEDICINE, 2024, 12 (01):
[12] Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens
Li, Hongjun
Wen, Qiaolian
Li, Hanzhong
Zhao, Lixi
Zhang, Xinyu
Wang, Jing
Cheng, Longfei
Yang, Jingwen
Chen, Si
Ma, Xu
Wang, Binbin
JOURNAL OF CYSTIC FIBROSIS, 2012, 11 (04) : 316 - 323
[13] Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens
Wu, CC
Alper, ÖM
Lu, JF
Wang, SP
Guo, L
Chiang, HS
Wong, LJC
HUMAN REPRODUCTION, 2005, 20 (09) : 2470 - 2475
[14] Mutation spectrum of the CFTR gene in taiwanese patients with congenital bilateral absence of the vas deferens
Wu, C. C.
Alper, O. M.
Wang, S. P.
Guo, L.
Chiang, H. S.
Wong, L. C.
INTERNATIONAL JOURNAL OF ANDROLOGY, 2005, 28 : 92 - 92
[15] Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
T. Dörk
Bernd Dworniczak
Christa Aulehla-Scholz
Dagmar Wieczorek
Ingolf Böhm
Antonia Mayerova
Hans H. Seydewitz
Eberhard Nieschlag
Dieter Meschede
Jürgen Horst
Hans-Jürgen Pander
Herbert Sperling
Felix Ratjen
Eberhard Passarge
Jörg Schmidtke
Manfred Stuhrmann
Human Genetics, 1997, 100 : 365 - 377
[16] Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
Dork, T
Dworniczak, B
AulehlaScholz, C
Wieczorek, D
Bohm, I
Mayerova, A
Seydewitz, HH
Nieschlag, E
Meschede, D
Horst, J
Pander, HJ
Sperling, H
Ratjen, F
Passarge, E
Schmidtke, J
Stuhrmann, M
HUMAN GENETICS, 1997, 100 (3-4) : 365 - 377
[17] Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens
Casals, T
Bassas, L
Egozcue, S
Ramos, MD
Giménez, J
Segura, A
Garcia, F
Carrera, M
Larriba, S
Sarquella, J
Estivill, X
HUMAN REPRODUCTION, 2000, 15 (07) : 1476 - 1483
[18] Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens
Sharma, N.
Acharya, N.
Singh, S. K.
Singh, M.
Sharma, U.
Prasad, R.
HUMAN REPRODUCTION, 2009, 24 (05) : 1229 - 1236
[19] CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS - EXHAUSTIVE SCREENING FOR MUTATIONS IN THE 27 EXONS OF THE CFTR GENE
MERCIER, B
LISSENS, W
AUDREZET, MP
BONDUELLE, M
QUERE, I
VERLINGUE, C
RAGUENES, O
LIEBAERS, I
FEREC, C
AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 1203 - 1203
[20] Congenital bilateral absence of the vas deferens
Escobar, Mauricio A.
Lau, Stanley T.
Glick, Philip L.
JOURNAL OF PEDIATRIC SURGERY, 2008, 43 (06) : 1222 - 1223

← 1 2 3 4 5 →