메뉴 건너뛰기




Volumn 62, Issue 4, 2007, Pages 385-390

Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: Counseling issues

Author keywords

Azoospermia; CFTR; Male infertility; Prevention; Vas deferens

Indexed keywords


EID: 34548804345     PISSN: 18075932     EISSN: None     Source Type: Journal    
DOI: 10.1590/S1807-59322007000400003     Document Type: Article
Times cited : (2)

References (15)
  • 1
    • 5144227715 scopus 로고    scopus 로고
    • The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilization
    • Wong LJ, Alper OM, Hsu E, Woo MS, Margetis MF. The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilization. Fertil Steril 2004;82:947-9.
    • (2004) Fertil Steril , vol.82 , pp. 947-949
    • Wong, L.J.1    Alper, O.M.2    Hsu, E.3    Woo, M.S.4    Margetis, M.F.5
  • 2
    • 29644435177 scopus 로고    scopus 로고
    • World Health Organization WHO, available at
    • World Health Organization (WHO). The molecular genetic epidemiology of cystic fibrosis. 2004; available at: http://www.who.int/genomics/publications/ en/.
    • (2004) The molecular genetic epidemiology of cystic fibrosis
  • 3
    • 0032875143 scopus 로고    scopus 로고
    • Assisted reproduction technology for patients with congenital bilateral absence of vas deferens
    • Okada H, Yoshimura K, Fujioka H, Tatsumi N, Gotoh A, Fujisawa M, et al. Assisted reproduction technology for patients with congenital bilateral absence of vas deferens. J Urol 1999;161:1157-62.
    • (1999) J Urol , vol.161 , pp. 1157-1162
    • Okada, H.1    Yoshimura, K.2    Fujioka, H.3    Tatsumi, N.4    Gotoh, A.5    Fujisawa, M.6
  • 4
    • 0029037459 scopus 로고
    • Cystic fibrosis gene mutations do not affect sperm function during in vitro fertilization with micromanipulation for men with bilateral congenital absence of vas deferens
    • Schlegel PN, Cohen J, Goldstein M, Alikani M, Aldler A, Gilbert BR, et al. Cystic fibrosis gene mutations do not affect sperm function during in vitro fertilization with micromanipulation for men with bilateral congenital absence of vas deferens. Fertil Steril 1995;64:421-6.
    • (1995) Fertil Steril , vol.64 , pp. 421-426
    • Schlegel, P.N.1    Cohen, J.2    Goldstein, M.3    Alikani, M.4    Aldler, A.5    Gilbert, B.R.6
  • 5
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller AS, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, A.S.1    Dykes, D.D.2    Polesky, H.F.3
  • 6
    • 0028906638 scopus 로고
    • cAMP-dependent protein kinase-mediated phosphorylation of cystic fibrosis transmembrane conductance regulator residue Ser-753 and its role in channel activation
    • Seibert FS, Tabcharani JA, Chang XB, Dulhanty AM, Mathews C, Hanrahan JW, et al. cAMP-dependent protein kinase-mediated phosphorylation of cystic fibrosis transmembrane conductance regulator residue Ser-753 and its role in channel activation. J Biol Chem 1995;3;270(5):2158-62.
    • (1995) J Biol Chem , vol.270 , Issue.5 , pp. 2158-2162
    • Seibert, F.S.1    Tabcharani, J.A.2    Chang, X.B.3    Dulhanty, A.M.4    Mathews, C.5    Hanrahan, J.W.6
  • 7
    • 0021902998 scopus 로고
    • Congenital absence of the vasa deferentia presenting with infertility
    • Jequier AM, Ansell ID, Bullimore NJ. Congenital absence of the vasa deferentia presenting with infertility. J Androl 1985;6:15-9.
    • (1985) J Androl , vol.6 , pp. 15-19
    • Jequier, A.M.1    Ansell, I.D.2    Bullimore, N.J.3
  • 8
    • 0030780563 scopus 로고    scopus 로고
    • CFTR gene mutations in men with bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles
    • Meschede D, Dworniczak B, Behre HM, Kliesch S, Claustres M, Nieschlag E, et al. CFTR gene mutations in men with bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles. Am J Hum Genet 1997;61:1200-2.
    • (1997) Am J Hum Genet , vol.61 , pp. 1200-1202
    • Meschede, D.1    Dworniczak, B.2    Behre, H.M.3    Kliesch, S.4    Claustres, M.5    Nieschlag, E.6
  • 9
    • 5644250620 scopus 로고    scopus 로고
    • CFTR mutations and polymorphisms in male infertility
    • Cuppens H, Cassiman JJ. CFTR mutations and polymorphisms in male infertility. Int J Androl 2004;27(5):251-6.
    • (2004) Int J Androl , vol.27 , Issue.5 , pp. 251-256
    • Cuppens, H.1    Cassiman, J.J.2
  • 10
    • 0026641782 scopus 로고
    • The spectrum of cystic fibrosis mutations
    • Tsui L-C. The spectrum of cystic fibrosis mutations. Trends Genet 1992;8:392-8.
    • (1992) Trends Genet , vol.8 , pp. 392-398
    • Tsui, L.-C.1
  • 11
    • 0028794627 scopus 로고
    • Is cogenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients
    • Mercier B, Verlingue C, Lissens W, Silber SJ, Novelli G, Bonduelle M, et al. Is cogenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. Am J Hum Genet 1995;56(1):272-7.
    • (1995) Am J Hum Genet , vol.56 , Issue.1 , pp. 272-277
    • Mercier, B.1    Verlingue, C.2    Lissens, W.3    Silber, S.J.4    Novelli, G.5    Bonduelle, M.6
  • 12
    • 0029025333 scopus 로고
    • Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
    • Chillón M, Casals T, Mercier B, Bassas, L; Lissens W, Silber S, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995;332:1475-80.
    • (1995) N Engl J Med , vol.332 , pp. 1475-1480
    • Chillón, M.1    Casals, T.2    Mercier, B.3    Bassas, L.4    Lissens, W.5    Silber, S.6
  • 13
    • 0032518518 scopus 로고    scopus 로고
    • Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
    • Cuppens H, Lin W, Jaspers M, Costes B, Teng H, Vankeerberghen A, et al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest 1998 15;101:487-96.
    • (1998) J Clin Invest , vol.15 , Issue.101 , pp. 487-496
    • Cuppens, H.1    Lin, W.2    Jaspers, M.3    Costes, B.4    Teng, H.5    Vankeerberghen, A.6
  • 14
    • 0031812374 scopus 로고    scopus 로고
    • Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD
    • de Meeus A, Guittard C, Desgeorges M, Carles S, Demaille J, Claustres M. Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD. J Med Genet 1998;35:594-6.
    • (1998) J Med Genet , vol.35 , pp. 594-596
    • de Meeus, A.1    Guittard, C.2    Desgeorges, M.3    Carles, S.4    Demaille, J.5    Claustres, M.6
  • 15
    • 27144556952 scopus 로고    scopus 로고
    • Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility
    • Morea A, Cameran M, Rebuffi AG, Marzenta D, Marangon O, Picci L, et al. Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility. Mol Hum Reprod 2005;11:607-14.
    • (2005) Mol Hum Reprod , vol.11 , pp. 607-614
    • Morea, A.1    Cameran, M.2    Rebuffi, A.G.3    Marzenta, D.4    Marangon, O.5    Picci, L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.