메뉴 건너뛰기




Volumn 281, Issue 23, 1999, Pages 2217-2224

Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HETERODUPLEX; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0033575077     PISSN: 00987484     EISSN: None     Source Type: Journal    
DOI: 10.1001/jama.281.23.2217     Document Type: Article
Times cited : (126)

References (78)
  • 2
    • 0029616734 scopus 로고
    • Cystic fibrosis: Genotypic and phenotypic variations
    • Zielenski J, Tsui L-C. Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet. 1995;29: 777-807.
    • (1995) Annu Rev Genet , vol.29 , pp. 777-807
    • Zielenski, J.1    Tsui, L.-C.2
  • 4
    • 0014673648 scopus 로고
    • The vas deferens in cystic fibrosis
    • Valman HB, France NE. The vas deferens in cystic fibrosis. Lancet. 1969;2:566-567.
    • (1969) Lancet , vol.2 , pp. 566-567
    • Valman, H.B.1    France, N.E.2
  • 5
    • 0014638684 scopus 로고
    • Abnormality of the epididymis and vas deferens in cystic fibrosis
    • Landing BH, Wells TR, Wang C-I. Abnormality of the epididymis and vas deferens in cystic fibrosis. Arch Pathol. 1969;88:569-580.
    • (1969) Arch Pathol , vol.88 , pp. 569-580
    • Landing, B.H.1    Wells, T.R.2    Wang, C.-I.3
  • 7
    • 0026562867 scopus 로고
    • Congenital bilateral absence of the vas deferens: A primarily genital form of cystic fibrosis
    • Anguiano A, Oates RD, Amos JA, et al. Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis. JAMA. 1992;267:1794-1797.
    • (1992) JAMA , vol.267 , pp. 1794-1797
    • Anguiano, A.1    Oates, R.D.2    Amos, J.A.3
  • 8
    • 0027503539 scopus 로고
    • Aetiology of congenital absence of vas deferens: Genetic study of three generations
    • Patrizio P, Asch RH, Handelin B, Silber SJ. Aetiology of congenital absence of vas deferens: genetic study of three generations. Hum Reprod. 1993;8:215-220.
    • (1993) Hum Reprod , vol.8 , pp. 215-220
    • Patrizio, P.1    Asch, R.H.2    Handelin, B.3    Silber, S.J.4
  • 9
    • 0027438374 scopus 로고
    • Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens
    • Osborne LR, Lynch M, Middleton PG, et al. Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens. Hum Mol Genet. 1993;2:1605-1609.
    • (1993) Hum Mol Genet , vol.2 , pp. 1605-1609
    • Osborne, L.R.1    Lynch, M.2    Middleton, P.G.3
  • 10
    • 0028281799 scopus 로고
    • Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens
    • Culard J-F, Desgeorges M, Costa P, et al. Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens. Hum Genet. 1994; 93:467-470.
    • (1994) Hum Genet , vol.93 , pp. 467-470
    • Culard, J.-F.1    Desgeorges, M.2    Costa, P.3
  • 11
    • 0028069337 scopus 로고
    • The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis
    • Oates RD, Amos JA. The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis. J Androl. 1994;15:1-8.
    • (1994) J Androl , vol.15 , pp. 1-8
    • Oates, R.D.1    Amos, J.A.2
  • 12
    • 0028794627 scopus 로고
    • Is congenital bilateral absence of vas deferens a primary form of cystic f ibrosis? analyses of the CFTR gene in 67 patients
    • Mercier B, Verlingue C, Lissens W, et al. Is congenital bilateral absence of vas deferens a primary form of cystic f ibrosis? analyses of the CFTR gene in 67 patients. Am J Hum Genet. 1995;56:272-277.
    • (1995) Am J Hum Genet , vol.56 , pp. 272-277
    • Mercier, B.1    Verlingue, C.2    Lissens, W.3
  • 13
    • 0029025333 scopus 로고
    • Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
    • Chillon M, Casals T, Mercier B, et al. 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
    • Chillon, M.1    Casals, T.2    Mercier, B.3
  • 14
    • 0029151485 scopus 로고
    • CFTR gene variant for patients with congenital absence of vas deferens
    • Zielenski J, Patrizio P, Corey M, et al. CFTR gene variant for patients with congenital absence of vas deferens. Am J Hum Genet. 1995;57:958-960.
    • (1995) Am J Hum Genet , vol.57 , pp. 958-960
    • Zielenski, J.1    Patrizio, P.2    Corey, M.3
  • 15
    • 0028791190 scopus 로고
    • Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens
    • Costes B, Girodon E, Ghanem N, et al. Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. Eur J Hum Genet. 1995;3:285-293.
    • (1995) Eur J Hum Genet , vol.3 , pp. 285-293
    • Costes, B.1    Girodon, E.2    Ghanem, N.3
  • 16
    • 0028878970 scopus 로고
    • Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: In 50% of cases only one CFTR allele could be detected
    • Casals T, Bassas L, Ruiz-Romero J, et al. Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected. Hum Genet. 1995;95: 205-211.
    • (1995) Hum Genet , vol.95 , pp. 205-211
    • Casals, T.1    Bassas, L.2    Ruiz-Romero, J.3
  • 17
    • 0029057474 scopus 로고
    • CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens
    • Rave-Harel N, Madgar I, Goshen R, et al. CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. Am J Hum Genet. 1995;56:1359-1366.
    • (1995) Am J Hum Genet , vol.56 , pp. 1359-1366
    • Rave-Harel, N.1    Madgar, I.2    Goshen, R.3
  • 18
    • 0029007619 scopus 로고
    • Structural analysis of CFTR gene in congenital bilateral absence of vas deferens
    • Jezequel P, Dorval I, Fergelot P, et al. Structural analysis of CFTR gene in congenital bilateral absence of vas deferens. Clin Chem. 1995;41:833-835.
    • (1995) Clin Chem , vol.41 , pp. 833-835
    • Jezequel, P.1    Dorval, I.2    Fergelot, P.3
  • 19
    • 0029086620 scopus 로고
    • Congenital unilateral absence of the vas deferens: A heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene
    • Mickle J, Milunsky A, Amos JA, Oates RD. Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. Hum Reprod. 1995;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
  • 20
    • 0028795401 scopus 로고
    • Diagnostic criteria for cystic fibrosis in men with congenital absence of the vas deferens
    • Durieu I, Bey-Omar F, Rollet J, et al. Diagnostic criteria for cystic fibrosis in men with congenital absence of the vas deferens. Medicine. 1995;74:42-47.
    • (1995) Medicine , vol.74 , pp. 42-47
    • Durieu, I.1    Bey-Omar, F.2    Rollet, J.3
  • 21
    • 0029019461 scopus 로고
    • Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia
    • Jarvi K, Zielenski J, Wilschanski M, et al. Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia. Lancet. 1995;345:1578.
    • (1995) Lancet , vol.345 , pp. 1578
    • Jarvi, K.1    Zielenski, J.2    Wilschanski, M.3
  • 22
    • 0030032379 scopus 로고    scopus 로고
    • Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): Correlation between genotype and phenotype
    • Dumur V, Gervais R, Rigot JM, et al. Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype. Hum Genet. 1996;97:7-10.
    • (1996) Hum Genet , vol.97 , pp. 7-10
    • Dumur, V.1    Gervais, R.2    Rigot, J.M.3
  • 23
    • 18144437929 scopus 로고    scopus 로고
    • A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients
    • Bienvenu T, Hubert D, Setbon E, Dusser D, Kaplan JC, Beldjord C. A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients. Hum Mutat. 1996;7:182.
    • (1996) Hum Mutat , vol.7 , pp. 182
    • Bienvenu, T.1    Hubert, D.2    Setbon, E.3    Dusser, D.4    Kaplan, J.C.5    Beldjord, C.6
  • 24
    • 0029947804 scopus 로고    scopus 로고
    • Molecular basis of cystic fibrosis and congenital bilateral agenesis of vas deferens
    • Bienvenu T, Claustres M. Molecular basis of cystic fibrosis and congenital bilateral agenesis of vas deferens. Contracept Fertil Sex. 1996;24:495-500.
    • (1996) Contracept Fertil Sex , vol.24 , pp. 495-500
    • Bienvenu, T.1    Claustres, M.2
  • 25
    • 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
  • 26
    • 3342917400 scopus 로고    scopus 로고
    • Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities
    • Lissens W, Mercier B, Tournaye H, et al. Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities. Hum Reprod. 1996;11(suppl 4):55-78.
    • (1996) Hum Reprod , vol.11 , Issue.4 SUPPL. , pp. 55-78
    • Lissens, W.1    Mercier, B.2    Tournaye, H.3
  • 27
    • 0029688503 scopus 로고    scopus 로고
    • Congenital absence of the vas deferens: A mild form of cystic fibrosis
    • Patrizio P, Zielenski J. Congenital absence of the vas deferens: a mild form of cystic fibrosis. Mol Med Today. 1996;2:24-31.
    • (1996) Mol Med Today , vol.2 , pp. 24-31
    • Patrizio, P.1    Zielenski, J.2
  • 28
    • 0031397371 scopus 로고    scopus 로고
    • The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland
    • Donat R, McNeill AS, Fitzpatrick DR, Hargreave TB. The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland. Br J Urol. 1997;79:74-77.
    • (1997) Br J Urol , vol.79 , pp. 74-77
    • Donat, R.1    McNeill, A.S.2    Fitzpatrick, D.R.3    Hargreave, T.B.4
  • 29
    • 0030609943 scopus 로고    scopus 로고
    • Molecular diagnosis of congenital bilateral absence of the vas deferens: Analyses of the CFTR gene in 64 French patients
    • Bienvenu T, Adjiman M, Thiounn N, et al. Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients. Ann Genet. 1997;40:5-9.
    • (1997) Ann Genet , vol.40 , pp. 5-9
    • Bienvenu, T.1    Adjiman, M.2    Thiounn, N.3
  • 30
    • 0031081431 scopus 로고    scopus 로고
    • Male infertility caused by bilateral agenesis of the vas deferens: A new clinical form of cystic fibrosis?
    • Durieu I, Bey-Omar F, Rollet J, et al. Male infertility caused by bilateral agenesis of the vas deferens: a new clinical form of cystic fibrosis? Rev Med Interne. 1997;18:114-118.
    • (1997) Rev Med Interne , vol.18 , pp. 114-118
    • Durieu, I.1    Bey-Omar, F.2    Rollet, J.3
  • 31
    • 0030765634 scopus 로고    scopus 로고
    • Congenital absence of the vas deferens: Incomplete penetrance of cystic fibrosis gene mutations
    • Shin D, Gilbert F, Goldstein M, Schlegel PN. Congenital absence of the vas deferens: incomplete penetrance of cystic fibrosis gene mutations. J Urol. 1997; 158:1794-1798.
    • (1997) J Urol , vol.158 , pp. 1794-1798
    • Shin, D.1    Gilbert, F.2    Goldstein, M.3    Schlegel, P.N.4
  • 32
    • 1842339924 scopus 로고    scopus 로고
    • Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
    • Dork T, Dworniczak B, Aulehla-Scholz C, et al. 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
    • Dork, T.1    Dworniczak, B.2    Aulehla-Scholz, C.3
  • 33
    • 0031960072 scopus 로고    scopus 로고
    • Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia
    • Kanavakis E, Tzetis M, Antoniadi T, Pistofidis G, Milligos S, Kattamis C. Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia. Mol Hum Reprod. 1998;4:333-337.
    • (1998) Mol Hum Reprod , vol.4 , pp. 333-337
    • Kanavakis, E.1    Tzetis, M.2    Antoniadi, T.3    Pistofidis, G.4    Milligos, S.5    Kattamis, C.6
  • 34
    • 0030687683 scopus 로고    scopus 로고
    • Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens
    • Mak V, Jarvi KA, Zielenski J, Durie P, Tsui L-C. Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens. Hum Mol Genet. 1997;6:2099-2107.
    • (1997) Hum Mol Genet , vol.6 , pp. 2099-2107
    • Mak, V.1    Jarvi, K.A.2    Zielenski, J.3    Durie, P.4    Tsui, L.-C.5
  • 36
    • 0023749032 scopus 로고
    • Pregnancy with sperm aspiration from the proximal head of the epididymis: A new treatment for congenital absence of the vas deferens
    • Silber SJ, Balmaceda J, Borrero C, Ord T, Asch R. Pregnancy with sperm aspiration from the proximal head of the epididymis: a new treatment for congenital absence of the vas deferens. Fertil Steril. 1988; 50:525-528.
    • (1988) Fertil Steril , vol.50 , pp. 525-528
    • Silber, S.J.1    Balmaceda, J.2    Borrero, C.3    Ord, T.4    Asch, R.5
  • 37
    • 0024205146 scopus 로고
    • Two births after microsurgical sperm aspiration in congenital absence of vas deferens
    • Patrizio P, Silber S, Ord T, Balmaceda JP, Asch RH. Two births after microsurgical sperm aspiration in congenital absence of vas deferens. Lancet. 1988;2: 1364.
    • (1988) Lancet , vol.2 , pp. 1364
    • Patrizio, P.1    Silber, S.2    Ord, T.3    Balmaceda, J.P.4    Asch, R.H.5
  • 38
    • 0025606440 scopus 로고
    • Congenital absence of the vas deferens: The fertilizing capacity of human epididymal sperm
    • Silber SJ, Ord T, Balmaceda J, Patrizio P, Asch RH. Congenital absence of the vas deferens: the fertilizing capacity of human epididymal sperm. N Engl J Med. 1990;323:1788-1792.
    • (1990) N Engl J Med , vol.323 , pp. 1788-1792
    • Silber, S.J.1    Ord, T.2    Balmaceda, J.3    Patrizio, P.4    Asch, R.H.5
  • 39
    • 0025988463 scopus 로고
    • Epididymal sperm aspiration in conjunction with in-vitro fertilization and embryo transfer in cases of obstructive azoospermia
    • Bladou F, Grillo JM, Rossi D, et al. Epididymal sperm aspiration in conjunction with in-vitro fertilization and embryo transfer in cases of obstructive azoospermia. Hum Reprod. 1991;6:1284-1287.
    • (1991) Hum Reprod , vol.6 , pp. 1284-1287
    • Bladou, F.1    Grillo, J.M.2    Rossi, D.3
  • 40
    • 0026639854 scopus 로고
    • Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte
    • Palermo G, Joris H, Devroey P, Van Steirteghem AC. Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet. 1992; 340:17-18.
    • (1992) Lancet , vol.340 , pp. 17-18
    • Palermo, G.1    Joris, H.2    Devroey, P.3    Van Steirteghem, A.C.4
  • 41
    • 0026525005 scopus 로고
    • Motility and fertilizing capacity of epididymal human spermatozoa in normal and pathological cases
    • Mathieu C, Guerin JF, Cognat M, Lejeune H, Pinatel MC, Lornage J. Motility and fertilizing capacity of epididymal human spermatozoa in normal and pathological cases. Fertil Steril. 1992;57:871-876.
    • (1992) Fertil Steril , vol.57 , pp. 871-876
    • Mathieu, C.1    Guerin, J.F.2    Cognat, M.3    Lejeune, H.4    Pinatel, M.C.5    Lornage, J.6
  • 42
    • 0026507054 scopus 로고
    • Microscopic epididymal sperm aspiration (MESA): A new option for treatment of the obstructive azoospermia associated with cystic fibrosis
    • Oates RD, Honig S, Berger MJ, Harris D. Microscopic epididymal sperm aspiration (MESA): a new option for treatment of the obstructive azoospermia associated with cystic fibrosis. J Assist Reprod Genet. 1992;9:36-40.
    • (1992) J Assist Reprod Genet , vol.9 , pp. 36-40
    • Oates, R.D.1    Honig, S.2    Berger, M.J.3    Harris, D.4
  • 43
    • 0027272459 scopus 로고
    • High fertilization and implantation rates after intracytoplasmic sperm injection
    • Van Steirteghem AC, Nagy Z, Joris H, et al. High fertilization and implantation rates after intracytoplasmic sperm injection. Hum Reprod. 1993;8:1061-1066.
    • (1993) Hum Reprod , vol.8 , pp. 1061-1066
    • Van Steirteghem, A.C.1    Nagy, Z.2    Joris, H.3
  • 44
    • 0028673001 scopus 로고
    • Successful in vitro fertilization and pregnancy by micromanipulation with epididymal sperm
    • Fukugaki H, Suganuma N, Kitagawa T, et al. Successful in vitro fertilization and pregnancy by micromanipulation with epididymal sperm. J Assist Reprod Genet. 1994;11:452-458.
    • (1994) J Assist Reprod Genet , vol.11 , pp. 452-458
    • Fukugaki, H.1    Suganuma, N.2    Kitagawa, T.3
  • 45
    • 0029010222 scopus 로고
    • Intracytoplasmic sperm injection: A major advance in the management of severe male subfertility
    • Harari O, Bourne H, McDonald M, et al. Intracytoplasmic sperm injection: a major advance in the management of severe male subfertility. Fertil Steril. 1995;64:360-368.
    • (1995) Fertil Steril , vol.64 , pp. 360-368
    • Harari, O.1    Bourne, H.2    McDonald, M.3
  • 46
    • 0028846999 scopus 로고
    • Micropuncture retrieval of epididymal sperm with in vitro fertilization: Importance of in vitro micromanipulation techniques
    • Schlegel PN, Palermo GD, Alikani M, et al. Micropuncture retrieval of epididymal sperm with in vitro fertilization: importance of in vitro micromanipulation techniques. Urology. 1995;46:238-241.
    • (1995) Urology , vol.46 , pp. 238-241
    • Schlegel, P.N.1    Palermo, G.D.2    Alikani, M.3
  • 47
    • 0030027025 scopus 로고    scopus 로고
    • Efficacy of microsurgical epididymal sperm aspiration (MESA) and intracytoplasmic sperm injection (ICSI) in obstructive azoospermia
    • Son IP, Hong JY, Lee YS. et al. Efficacy of microsurgical epididymal sperm aspiration (MESA) and intracytoplasmic sperm injection (ICSI) in obstructive azoospermia. J Assist Reprod Genet. 1996;13:69-72.
    • (1996) J Assist Reprod Genet , vol.13 , pp. 69-72
    • Son, I.P.1    Hong, J.Y.2    Lee, Y.S.3
  • 48
    • 0029827242 scopus 로고    scopus 로고
    • Micromanipulation improves in-vitro fertilization results after epididymal or testicular sperm aspiration in patients with congenital absence of the vas deferens
    • Madgar I, Seidman DS, Levran D, et al Micromanipulation improves in-vitro fertilization results after epididymal or testicular sperm aspiration in patients with congenital absence of the vas deferens. Hum Reprod. 1996;11:2151-2154.
    • (1996) Hum Reprod , vol.11 , pp. 2151-2154
    • Madgar, I.1    Seidman, D.S.2    Levran, D.3
  • 49
    • 0031005936 scopus 로고    scopus 로고
    • Approaches for obtaining sperm in patients with male factor infertility
    • Cha KY, Oum KB, Kim HJ. Approaches for obtaining sperm in patients with male factor infertility. Fertil Steril. 1997;67:985-995.
    • (1997) Fertil Steril , vol.67 , pp. 985-995
    • Cha, K.Y.1    Oum, K.B.2    Kim, H.J.3
  • 51
    • 0026713048 scopus 로고
    • Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis
    • Handyside AH, Lesko JC, Tarin JJ, Winston RM, Hughes MR. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med. 1992;327:905-909.
    • (1992) N Engl J Med , vol.327 , pp. 905-909
    • Handyside, A.H.1    Lesko, J.C.2    Tarin, J.J.3    Winston, R.M.4    Hughes, M.R.5
  • 52
    • 17444436593 scopus 로고
    • The potential of intracytoplasmic sperm injection (ICSI) to transmit genetic defects causing male infertility
    • de Kretser DM. The potential of intracytoplasmic sperm injection (ICSI) to transmit genetic defects causing male infertility. Reprod Fertil Dev. 1995;7: 137-141.
    • (1995) Reprod Fertil Dev , vol.7 , pp. 137-141
    • Kretser, D.M.1
  • 53
    • 0028806247 scopus 로고
    • Concerns and recommendations for intracytoplasmic sperm injection (ICSI) treatment
    • Cummins JM, Jequier AM. Concerns and recommendations for intracytoplasmic sperm injection (ICSI) treatment. Hum Reprod. 1995;10(suppl 1):138-143.
    • (1995) Hum Reprod , vol.10 , Issue.1 SUPPL. , pp. 138-143
    • Cummins, J.M.1    Jequier, A.M.2
  • 54
    • 0029792944 scopus 로고    scopus 로고
    • The genetics of male infertility
    • Mak V, Jarvi KA. The genetics of male infertility. J Urol. 1996;156:1245-1256.
    • (1996) J Urol , vol.156 , pp. 1245-1256
    • Mak, V.1    Jarvi, K.A.2
  • 55
    • 0031698004 scopus 로고    scopus 로고
    • Genetic risks of intracytoplasmic sperm injection in the treatment of male infertility: Recommendations for genetic counseling and screening
    • Johnson MD. Genetic risks of intracytoplasmic sperm injection in the treatment of male infertility: recommendations for genetic counseling and screening. Fertil Steril. 1998;70:397-411.
    • (1998) Fertil Steril , vol.70 , pp. 397-411
    • Johnson, M.D.1
  • 56
    • 0031694578 scopus 로고    scopus 로고
    • Genetic counseling for patients who will be undergoing treatment with assisted reproductive technology
    • Lawler AM, Gearhart JD. Genetic counseling for patients who will be undergoing treatment with assisted reproductive technology. Fertil Steril. 1998;70: 412-413.
    • (1998) Fertil Steril , vol.70 , pp. 412-413
    • Lawler, A.M.1    Gearhart, J.D.2
  • 57
    • 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, et al. 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
  • 58
    • 0344810960 scopus 로고    scopus 로고
    • Ottawa, Ontario: Census Operations Division
    • Census Operations Division. Statistics Canada, 7996 Census Nation: Tables. Ottawa, Ontario: Census Operations Division; 1996.
    • (1996) Statistics Canada, 7996 Census Nation: Tables
  • 59
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky MF. 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, S.A.1    Dykes, D.D.2    Polesky, M.F.3
  • 62
    • 0025760318 scopus 로고
    • Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
    • Zielenski J, Rozmahel R, Bozon D, et al. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics. 1991; 10:214-228.
    • (1991) Genomics , vol.10 , pp. 214-228
    • Zielenski, J.1    Rozmahel, R.2    Bozon, D.3
  • 63
    • 0027521663 scopus 로고
    • A mutation in CFTR produces different phenotypes depending on chromosomal background
    • Kiesewetter S, Macek M Jr, Davis C, et al. 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., Jr.2    Davis, C.3
  • 64
    • 0000050066 scopus 로고    scopus 로고
    • An efficient protocol for CFTR mutation detection based on multiplex heteroduplex analysis (mHET)
    • Aznarez I, Onay I, Tzounzouris J, et al. An efficient protocol for CFTR mutation detection based on multiplex heteroduplex analysis (mHET) [abstract]. Pediatr Pulmonol. 1998;17(suppl):332.
    • (1998) Pediatr Pulmonol , vol.17 , Issue.SUPPL. , pp. 332
    • Aznarez, I.1    Onay, I.2    Tzounzouris, J.3
  • 66
    • 0028140183 scopus 로고
    • Exon 9 of the CFTR gene: Splice site haplotypes and cystic fibrosis mutations
    • Dork T, Fislage R, Neumann T, Wulf B, Tummler B. Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations. Hum Genet. 1994;93:67-73.
    • (1994) Hum Genet , vol.93 , pp. 67-73
    • Dork, T.1    Fislage, R.2    Neumann, T.3    Wulf, B.4    Tummler, B.5
  • 67
    • 0020035515 scopus 로고
    • Epididymal causes of male infertility: Pathogenesis and management
    • Schoysman R. Epididymal causes of male infertility: pathogenesis and management. Int J Androl. 1982;5(suppl):120-134.
    • (1982) Int J Androl , vol.5 , Issue.SUPPL. , pp. 120-134
    • Schoysman, R.1
  • 68
    • 0014904715 scopus 로고
    • Surgical treatment of male infertility
    • Young D. Surgical treatment of male infertility. J Reprod Fertil. 1970;23:541-542.
    • (1970) J Reprod Fertil , vol.23 , pp. 541-542
    • Young, D.1
  • 69
    • 0027332070 scopus 로고
    • Was Young's syndrome caused by exposure to mercury in childhood?
    • Hendry WF, A'Hem RP, Cole PJ. Was Young's syndrome caused by exposure to mercury in childhood? BMJ. 1993;307:1579-1582.
    • (1993) BMJ , vol.307 , pp. 1579-1582
    • Hendry, W.F.1    A'Hem, R.P.2    Cole, P.J.3
  • 71
    • 0028340712 scopus 로고
    • Genetic testing and counselling for congenital bilateral absence of the vas deferens
    • Meschede D, Horst J, Williams C, Williamson R. Genetic testing and counselling for congenital bilateral absence of the vas deferens. Lancet. 1994;343: 1566-1567.
    • (1994) Lancet , vol.343 , pp. 1566-1567
    • Meschede, D.1    Horst, J.2    Williams, C.3    Williamson, R.4
  • 73
    • 0028958565 scopus 로고
    • Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis
    • Pignatti PF, Bombieri C, Marigo C, Benetazzo M, Luisetti M. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. Hum Mol Genet. 1995;4:635-639.
    • (1995) Hum Mol Genet , vol.4 , pp. 635-639
    • Pignatti, P.F.1    Bombieri, C.2    Marigo, C.3    Benetazzo, M.4    Luisetti, M.5
  • 74
    • 0029960243 scopus 로고    scopus 로고
    • CFTR gene variant IVS8-5T in disseminated bronchiectasis
    • Pignatti PF, Bombieri C, Benetazzo M, et al. CFTR gene variant IVS8-5T in disseminated bronchiectasis. Am J Hum Genet. 1996;58:889-892.
    • (1996) Am J Hum Genet , vol.58 , pp. 889-892
    • Pignatti, P.F.1    Bombieri, C.2    Benetazzo, M.3
  • 75
    • 0029896266 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis
    • Miller PW, Hamosh A, Macek M Jr, et al. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis. Am J Hum Genet. 1996;59:45-51.
    • (1996) Am J Hum Genet , vol.59 , pp. 45-51
    • Miller, P.W.1    Hamosh, A.2    Macek M., Jr.3
  • 76
    • 0032480253 scopus 로고    scopus 로고
    • Mutations of the cystic fibrosis gene in patients with chronic pancreatitis
    • Sharer N, Schwarz M, Malone G, et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med. 1998;339:645-652.
    • (1998) N Engl J Med , vol.339 , pp. 645-652
    • Sharer, N.1    Schwarz, M.2    Malone, G.3
  • 78
    • 0344810959 scopus 로고    scopus 로고
    • Accessed May 12
    • National Institutes of Health Consensus Statement. Genetic testing for cystic fibrosis. Available at: http://odp.od.nih.gov/consensus/cons/106/ 106_statement.htm. Accessed May 12, 1999.
    • (1999) Genetic Testing for Cystic Fibrosis


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.