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Volumn 76, Issue 3, 2009, Pages 282-286

CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis

Author keywords

Congenital bilateral absence of the vas deferens; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Male infertility; Sweat chloride

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 70350143207     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01258.x     Document Type: Article
Times cited : (21)

References (30)
  • 1
    • 0029025333 scopus 로고
    • Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
    • Chillón M, Casals T, Mercier B. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995, 332:1475-1480.
    • (1995) N Engl J Med , vol.332 , pp. 1475-1480
    • Chillón, M.1    Casals, T.2    Mercier, B.3
  • 2
    • 0033803792 scopus 로고    scopus 로고
    • 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. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. Hum Reprod 2000, 15:1476-1483.
    • (2000) Hum Reprod , vol.15 , pp. 1476-1483
    • Casals, T.1    Bassas, L.2    Egozcue, S.3
  • 3
    • 0029883879 scopus 로고    scopus 로고
    • Urogenital anomalies in men with congenital absence of the vas deferens
    • Schlegel PN, Shin D, Goldstein M. Urogenital anomalies in men with congenital absence of the vas deferens. J Urol 1996, 155:1644-1648.
    • (1996) J Urol , vol.155 , pp. 1644-1648
    • Schlegel, P.N.1    Shin, D.2    Goldstein, M.3
  • 4
    • 0031869253 scopus 로고    scopus 로고
    • Correlation between genito-urinary anomalies, semen analysis and CFTR genotype in patients with congenital bilateral absence of the vas deferens
    • de la Taille A, Rigot JM, Mahe P. Correlation between genito-urinary anomalies, semen analysis and CFTR genotype in patients with congenital bilateral absence of the vas deferens. Br J Urol 1998, 81:614-619.
    • (1998) Br J Urol , vol.81 , pp. 614-619
    • de la Taille, A.1    Rigot, J.M.2    Mahe, P.3
  • 5
    • 0029049405 scopus 로고
    • Incidence and mortality rates of cystic fibrosis in Japan, 1969-1992
    • Imaizumi Y. Incidence and mortality rates of cystic fibrosis in Japan, 1969-1992. Am J Med Genet 1995, 58:161-168.
    • (1995) Am J Med Genet , vol.58 , pp. 161-168
    • Imaizumi, Y.1
  • 6
    • 0141650686 scopus 로고    scopus 로고
    • Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients
    • Alper T, Shu SG, Lee MH. Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients. J Formos Med Assoc 2003, 102:287-291.
    • (2003) J Formos Med Assoc , vol.102 , pp. 287-291
    • Alper, T.1    Shu, S.G.2    Lee, M.H.3
  • 7
    • 1242318768 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of vas deferens
    • Wu CC, Hsieh-Li HM, Lin YM. Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of vas deferens. Hum Reprod 2004, 19:250-253.
    • (2004) Hum Reprod , vol.19 , pp. 250-253
    • Wu, C.C.1    Hsieh-Li, H.M.2    Lin, Y.M.3
  • 8
    • 24144491660 scopus 로고    scopus 로고
    • Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens
    • Wu CC, Alper T, Lu JF. Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. Hum Reprod 2005, 20:2470-2475.
    • (2005) Hum Reprod , vol.20 , pp. 2470-2475
    • Wu, C.C.1    Alper, T.2    Lu, J.F.3
  • 9
    • 9144235448 scopus 로고    scopus 로고
    • Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
    • Groman JD, Hefferon TW, Casals T. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet 2004, 74:176-179.
    • (2004) Am J Hum Genet , vol.74 , pp. 176-179
    • Groman, J.D.1    Hefferon, T.W.2    Casals, T.3
  • 10
    • 0032880563 scopus 로고    scopus 로고
    • Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis.
    • Chen TJ, Boles RG, Wong LJ. Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis. Clin Chem 1999, 45:1162-1167.
    • (1999) Clin Chem , vol.45 , pp. 1162-1167
    • Chen, T.J.1    Boles, R.G.2    Wong, L.J.3
  • 11
    • 0034816370 scopus 로고    scopus 로고
    • Improved detection of CFTR mutations in Southern California Hispanic CF patients
    • Wong LJ, Wang J, Zhang YH. Improved detection of CFTR mutations in Southern California Hispanic CF patients. Hum Mutat 2001, 18:296-307.
    • (2001) Hum Mutat , vol.18 , pp. 296-307
    • Wong, L.J.1    Wang, J.2    Zhang, Y.H.3
  • 12
    • 4444319785 scopus 로고    scopus 로고
    • Detection of CFTR mutations using temporal temperature gradient gel electrophoresis
    • Wong L-JC, Alper T. Detection of CFTR mutations using temporal temperature gradient gel electrophoresis. Electrophoresis 2004, 25:2593-2601.
    • (2004) Electrophoresis , vol.25 , pp. 2593-2601
    • Wong, L.-.J.C.1    Alper, T.2
  • 13
    • 0026661916 scopus 로고
    • Male infertility: role of transrectal US in diagnosis and management
    • Kuligowska E, Baker CE, Oates RD. Male infertility: role of transrectal US in diagnosis and management. Radiology 1992, 185:353-360.
    • (1992) Radiology , vol.185 , pp. 353-360
    • Kuligowska, E.1    Baker, C.E.2    Oates, R.D.3
  • 14
    • 13444274433 scopus 로고    scopus 로고
    • Conductivity determined by a new sweat analyzer compared with chloride concentrations for the diagnosis of cystic fibrosis
    • Barben J, Ammann RA, Metlagel A. Conductivity determined by a new sweat analyzer compared with chloride concentrations for the diagnosis of cystic fibrosis. J Pediatr 2005, 146:183-188.
    • (2005) J Pediatr , vol.146 , pp. 183-188
    • Barben, J.1    Ammann, R.A.2    Metlagel, A.3
  • 15
    • 0027521663 scopus 로고
    • A mutation in CFTR produces different phenotypes depending on chromosomal background
    • Kiesewetter S, Macek M, Davis C. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1993, 5:274-278.
    • (1993) Nat Genet , vol.5 , pp. 274-278
    • Kiesewetter, S.1    Macek, M.2    Davis, C.3
  • 16
    • 0037765332 scopus 로고    scopus 로고
    • CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens
    • Anzai C, Morokawa N, Okada H. CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens. J Cyst Fibros 2003, 2:14-18.
    • (2003) J Cyst Fibros , vol.2 , pp. 14-18
    • Anzai, C.1    Morokawa, N.2    Okada, H.3
  • 17
    • 0033740316 scopus 로고    scopus 로고
    • Polymorphism of cystic fibrosis gene in Japanese patients with chronic pancreatitis
    • Kimura S, Okabayashi Y, Inushima K. Polymorphism of cystic fibrosis gene in Japanese patients with chronic pancreatitis. Dig Dis Sci 2000, 45:2007-2012.
    • (2000) Dig Dis Sci , vol.45 , pp. 2007-2012
    • Kimura, S.1    Okabayashi, Y.2    Inushima, K.3
  • 18
    • 34249708456 scopus 로고    scopus 로고
    • Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis
    • Chang MC, Chang YT, Wei SC. Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis. Clin Genet 2007, 71:530-539.
    • (2007) Clin Genet , vol.71 , pp. 530-539
    • Chang, M.C.1    Chang, Y.T.2    Wei, S.C.3
  • 19
    • 0034035576 scopus 로고    scopus 로고
    • CFTR gene mutations and male infertility
    • Stuhrmann M, Dörk T. CFTR gene mutations and male infertility. Andrologia 2000, 32:71-83.
    • (2000) Andrologia , vol.32 , pp. 71-83
    • Stuhrmann, M.1    Dörk, T.2
  • 20
    • 33645302747 scopus 로고    scopus 로고
    • The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era
    • Mishra A, Greaves R, Massie J. The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era. Clin Biochem Rev 2005, 26:135-151.
    • (2005) Clin Biochem Rev , vol.26 , pp. 135-151
    • Mishra, A.1    Greaves, R.2    Massie, J.3
  • 21
    • 0342618765 scopus 로고    scopus 로고
    • Normal vas deferens in fetuses with cystic fibrosis
    • Gaillard DA, Carré-Pigeon F, Lallemand A. Normal vas deferens in fetuses with cystic fibrosis. J Urol 1997, 158:1549-1552.
    • (1997) J Urol , vol.158 , pp. 1549-1552
    • Gaillard, D.A.1    Carré-Pigeon, F.2    Lallemand, A.3
  • 22
    • 61449114896 scopus 로고    scopus 로고
    • Gene copy number variations in Asian patients with congenital bilateral absence of the vas deferens
    • Lee CH, Wu CC, Wu YN. Gene copy number variations in Asian patients with congenital bilateral absence of the vas deferens. Hum Reprod 2009, 24:748-755.
    • (2009) Hum Reprod , vol.24 , pp. 748-755
    • Lee, C.H.1    Wu, C.C.2    Wu, Y.N.3
  • 23
    • 54449092355 scopus 로고    scopus 로고
    • CFTR mutation analysis of a Caucasian father with congenital bilateral absence of vas deferens, a Taiwanese mother, and twins resulting from ICSI procedure
    • Chiang HS, Wu CC, Wu YN. CFTR mutation analysis of a Caucasian father with congenital bilateral absence of vas deferens, a Taiwanese mother, and twins resulting from ICSI procedure. J Formos Med Assoc 2008, 107:736-740.
    • (2008) J Formos Med Assoc , vol.107 , pp. 736-740
    • Chiang, H.S.1    Wu, C.C.2    Wu, Y.N.3
  • 24
    • 27744441010 scopus 로고    scopus 로고
    • Late CF caused by homozygous IVS8-5T CFTR polymorphism
    • Cottin V, Thibout Y, Bey-Omar F. Late CF caused by homozygous IVS8-5T CFTR polymorphism. Thorax 2005, 60:974-975.
    • (2005) Thorax , vol.60 , pp. 974-975
    • Cottin, V.1    Thibout, Y.2    Bey-Omar, F.3
  • 25
    • 1842339924 scopus 로고    scopus 로고
    • Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
    • Dörk T, Dworniczak B, Aulehla-Scholz C. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet 1997, 100:365-377.
    • (1997) Hum Genet , vol.100 , pp. 365-377
    • Dörk, T.1    Dworniczak, B.2    Aulehla-Scholz, C.3
  • 26
    • 0033860259 scopus 로고    scopus 로고
    • Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
    • Claustres M, Guittard C, Bozon D. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat 2000, 16:143-156.
    • (2000) Hum Mutat , vol.16 , pp. 143-156
    • Claustres, M.1    Guittard, C.2    Bozon, D.3
  • 27
    • 0031722993 scopus 로고    scopus 로고
    • Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations
    • Jarvi K, McCallum S, Zielenski J. Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations. Fertil Steril 1998, 70:724-728.
    • (1998) Fertil Steril , vol.70 , pp. 724-728
    • Jarvi, K.1    McCallum, S.2    Zielenski, J.3
  • 28
    • 8344267489 scopus 로고    scopus 로고
    • Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens
    • Grangeia A, Niel F, Carvalho F. Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens. Hum Reprod 2004, 19:2502-2508.
    • (2004) Hum Reprod , vol.19 , pp. 2502-2508
    • Grangeia, A.1    Niel, F.2    Carvalho, F.3
  • 29
    • 0032954908 scopus 로고    scopus 로고
    • Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens
    • Lissens W, Mahmoud KZ, El-Gindi E. Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens. Mol Hum Reprod 1999, 5:10-13.
    • (1999) Mol Hum Reprod , vol.5 , pp. 10-13
    • Lissens, W.1    Mahmoud, K.Z.2    El-Gindi, E.3
  • 30
    • 34447311925 scopus 로고    scopus 로고
    • Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens
    • Radpour R, Gourabi H, Gilani MA. Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens. J Androl 2007, 28:541-547.
    • (2007) J Androl , vol.28 , pp. 541-547
    • Radpour, R.1    Gourabi, H.2    Gilani, M.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.