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Volumn 11, Issue 8, 2005, Pages 607-614

Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility

Author keywords

CFTR; Infertility; IVS8 T; IVS8 TG

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 27144556952     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gah214     Document Type: Article
Times cited : (16)

References (47)
  • 2
    • 0035737072 scopus 로고    scopus 로고
    • Phenotype of CF and the effects of possible modifier genes
    • Acton JD and Wilmott RW (2001) Phenotype of CF and the effects of possible modifier genes. Paediatr Respir Rev 2,332-339.
    • (2001) Paediatr. Respir. Rev. , vol.2 , pp. 332-339
    • Acton, J.D.1    Wilmott, R.W.2
  • 3
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis: A worldwide analysis of CFTR mutations-correlation with incidence data and application to screening
    • Bobadilla JL, Macek M Jr, Fine JP and Farrell PM (2002) Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat 19,575-606.
    • (2002) Hum. Mutat. , vol.19 , pp. 575-606
    • Bobadilla, J.L.1    Macek Jr., M.2    Fine, J.P.3    Farrell, P.M.4
  • 5
    • 0026566043 scopus 로고
    • Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: A technology for carrier screening
    • Chehab FF and Wall J (1992) Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: A technology for carrier screening. Hum Genet 89,163-168.
    • (1992) Hum. Genet. , vol.89 , pp. 163-168
    • Chehab, F.F.1    Wall, J.2
  • 7
    • 0027502580 scopus 로고
    • Genetic basis of variable exon skipping in cystic fibrosis transmembrane conductance regulator mRNA
    • Chu CS, Trapnell BC, Curristin SM, Cutting GR and Crystal RG (1993) Genetic basis of variable exon skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 3,151-156.
    • (1993) Nat. Genet. , vol.3 , pp. 151-156
    • Chu, C.S.1    Trapnell, B.C.2    Curristin, S.M.3    Cutting, G.R.4    Crystal, R.G.5
  • 9
    • 0027325822 scopus 로고
    • A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations
    • Costes B, Fanen P, Goossens M and Ghanem (1993) A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations. Hum Mutat 2,185-191.
    • (1993) Hum. Mutat. , vol.2 , pp. 185-191
    • Costes, B.1    Fanen, P.2    Goossens, M.3    Ghanem4
  • 10
    • 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, Jorissen M, Droogmans G, Reynaert I, Goossens M et al. (1998) 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 101,487-496.
    • (1998) J. Clin. Invest. , vol.101 , pp. 487-496
    • Cuppens, H.1    Lin, W.2    Jaspers, M.3    Costes, B.4    Teng, H.5    Vankeerberghen, A.6    Jorissen, M.7    Droogmans, G.8    Reynaert, I.9    Goossens, M.10
  • 11
    • 27144481160 scopus 로고    scopus 로고
    • Cystic Fibrosis Genetic Analysis Consortium Available from
    • Cystic Fibrosis Genetic Analysis Consortium (2005) Available from http://www.genet.sickkids.on.ca/cftr/
    • (2005)
  • 12
    • 0029016495 scopus 로고
    • Gender differences in cystic fibrosis: Pseudomonas aeruginosa infection
    • Demko CA, Byard PJ and Davis PB (1995) Gender differences in cystic fibrosis: Pseudomonas aeruginosa infection. J Clin Epidemiol 48,1041-1049.
    • (1995) J. Clin. Epidemiol. , vol.48 , pp. 1041-1049
    • Demko, C.A.1    Byard, P.J.2    Davis, P.B.3
  • 13
    • 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 and Claustres M (1998) Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD. J Med Genet 35,594-596.
    • (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
  • 16
    • 0034046150 scopus 로고    scopus 로고
    • International comparison of median age at death from cystic fibrosis
    • Fogarty A, Hubbard R and Britton J (2000) International comparison of median age at death from cystic fibrosis. Chest 117,1656-1660.
    • (2000) Chest , vol.117 , pp. 1656-1660
    • Fogarty, A.1    Hubbard, R.2    Britton, J.3
  • 17
    • 0036063359 scopus 로고    scopus 로고
    • Guidelines for the appropriate use of genetic tests in infertile couples
    • Foresta C, Ferlin A, Gianaroli L and Dallapiccola B (2002) Guidelines for the appropriate use of genetic tests in infertile couples. Eur J Hum Genet 10,303-312.
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 303-312
    • Foresta, C.1    Ferlin, A.2    Gianaroli, L.3    Dallapiccola, B.4
  • 18
    • 0030961127 scopus 로고    scopus 로고
    • Decreased concentration of exhaled nitric oxide (NO) in patients with cystic fibrosis
    • Grasemann H, Michler E, Wallot M and Ratjen F (1997) Decreased concentration of exhaled nitric oxide (NO) in patients with cystic fibrosis. Pediatr Pulmonol 24,173-177.
    • (1997) Pediatr. Pulmonol. , vol.24 , pp. 173-177
    • Grasemann, H.1    Michler, E.2    Wallot, M.3    Ratjen, F.4
  • 21
    • 0028264560 scopus 로고
    • Female infertility: Causes and treatment
    • Healy DL, Trounson AO and Andersen AN (1994) Female infertility: Causes and treatment. Lancet 343,1539-1544.
    • (1994) Lancet , vol.343 , pp. 1539-1544
    • Healy, D.L.1    Trounson, A.O.2    Andersen, A.N.3
  • 23
    • 0021902998 scopus 로고
    • Congenital absence of the vasa deferentia presenting with infertility
    • Jecquier AM, Ansell ID and Bullimore NJ (1985) Congenital absence of the vasa deferentia presenting with infertility. J Androl 6,15-19.
    • (1985) J. Androl. , vol.6 , pp. 15-19
    • Jecquier, A.M.1    Ansell, I.D.2    Bullimore, N.J.3
  • 25
    • 0015885904 scopus 로고
    • Water and electrolytes in cervical mucus from patients with cystic fibrosis
    • Kopito LE, Kosasky HJ and Shwachman H (1973) Water and electrolytes in cervical mucus from patients with cystic fibrosis. Fertil Steril 24,512-516.
    • (1973) Fertil. Steril. , vol.24 , pp. 512-516
    • Kopito, L.E.1    Kosasky, H.J.2    Shwachman, H.3
  • 27
    • 0033763392 scopus 로고    scopus 로고
    • Cystic fibrosis in infertility: Screening before assisted reproduction: Opinion
    • Lewis-Jones DI, Gazvani MR and Mountford R (2000) Cystic fibrosis in infertility: Screening before assiOted reproduction: opinion. Hum Reprod 15,2415-2417.
    • (2000) Hum. Reprod. , vol.15 , pp. 2415-2417
    • Lewis-Jones, D.I.1    Gazvani, M.R.2    Mountford, R.3
  • 29
    • 0029792944 scopus 로고    scopus 로고
    • The genetics of male infertility
    • Mak V and Jarvi KA (1996) The genetics of male infertility. J Urol 156,1245-1257.
    • (1996) J. Urol. , vol.156 , pp. 1245-1257
    • Mak, V.1    Jarvi, K.A.2
  • 31
    • 0029086620 scopus 로고
    • Congenital unilateral absence of the vas deferens: A heterogeneous disorder with two distinct sub-populations based upon aetiology and mutational status of the cystic fibrosis gene
    • Mickle J, Milunsky A, Amos JA and Oates RD (1995) Congenital unilateral absence of the vas deferens: A heterogeneous disorder with two distinct sub-populations based upon aetiology and mutational status of the cystic fibrosis gene. Hum Reprod 10, 1728-1735.
    • (1995) Hum. Reprod. , vol.10 , pp. 1728-1735
    • Mickle, J.1    Milunsky, A.2    Amos, J.A.3    Oates, R.D.4
  • 32
    • 0032756818 scopus 로고    scopus 로고
    • Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9
    • Niksic M, Romano M, Buratti E, Pagani F and Baralle FE (1999) Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9. Hum Mol Genet 8,2339-2349.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 2339-2349
    • Niksic, M.1    Romano, M.2    Buratti, E.3    Pagani, F.4    Baralle, F.E.5
  • 40
    • 0035164715 scopus 로고    scopus 로고
    • Infertility in men with cystic fibrosis
    • Sokol RZ (2001) Infertility in men with cystic fibrosis. Curr Opin Pulm Med 7,421-426.
    • (2001) Curr. Opin. Pulm. Med. , vol.7 , pp. 421-426
    • Sokol, R.Z.1
  • 41
    • 0037241836 scopus 로고    scopus 로고
    • Gender, death and cystic fibrosis: Is energy expenditure a component?
    • Stallings VA (2003) Gender, death and cystic fibrosis: Is energy expenditure a component? J Pediatr 142,4-146.
    • (2003) J. Pediatr. , vol.142 , pp. 4-146
    • Stallings, V.A.1
  • 44
    • 0029024219 scopus 로고
    • A 31 mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory
    • Wall J, Shiping C and Chehab FF (1995) A 31 mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory. Hum Mutat 5,333-338.
    • (1995) Hum. Mutat. , vol.5 , pp. 333-338
    • Wall, J.1    Shiping, C.2    Chehab, F.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.