-
1
-
-
0026562867
-
Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis
-
Anguiano, A., Oates, R.H., Amos, J. A. et al. (1992) Congenital bilateral absence of the vas deferens. a primarily genital form of cystic fibrosis. J Am. Med. Assoc., 67, 1794-1797.
-
(1992)
J Am. Med. Assoc.
, vol.67
, pp. 1794-1797
-
-
Anguiano, A.1
Oates, R.H.2
Amos, J.A.3
-
2
-
-
0024651105
-
Mutations in the catalytic domain of human coagulation factor DC: Rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behaviour
-
Attree, O., Vidaud, D., Vidaud, M. et al. (1989) Mutations in the catalytic domain of human coagulation factor DC: Rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behaviour. Genomics, 4, 266-272.
-
(1989)
Genomics
, vol.4
, pp. 266-272
-
-
Attree, O.1
Vidaud, D.2
Vidaud, M.3
-
3
-
-
0029025333
-
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
-
Chillon, M., Casals, T., Mercier, B. et al. (1995) Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N. Engl. J. Med., 332, 1475-1480.
-
(1995)
N. Engl. J. Med.
, vol.332
, pp. 1475-1480
-
-
Chillon, M.1
Casals, T.2
Mercier, B.3
-
4
-
-
0027502580
-
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
-
Chu, C S., Trapnell, B.C., Curristin, S. et al. (1993) Genetic basis of variable exon 9 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.3
-
5
-
-
0029782355
-
Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens
-
Colin, A.A., Sawyer, S.M., Mickle, J.E et al. (1996) Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens. Chest, 110, 440-445.
-
(1996)
Chest
, vol.110
, pp. 440-445
-
-
Colin, A.A.1
Sawyer, S.M.2
Mickle, J.E.3
-
6
-
-
0027325822
-
A rapid, efficient and sensitive assay for simultaneous analysis of multiple cystic fibrosis mutations
-
Costes, B., Fanen, P., Goossens, M. et al. (1993) A rapid, efficient and sensitive assay for simultaneous analysis 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
-
7
-
-
0028791190
-
Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens
-
Costes, B., Guodon, E., Ghanem, N. et al. (1995) 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., 3, 285-293.
-
(1995)
Eur. J. Hum. Genet.
, vol.3
, pp. 285-293
-
-
Costes, B.1
Guodon, E.2
Ghanem, N.3
-
8
-
-
0029097769
-
Male fertility in cystic fibrosis
-
Dodge, J.A. (1995) Male fertility in cystic fibrosis. Lancet, 346, 587-588.
-
(1995)
Lancet
, vol.346
, pp. 587-588
-
-
Dodge, J.A.1
-
9
-
-
0029928789
-
Complexity in monogenic disease
-
Estivill, X. (1996) Complexity in monogenic disease. Nat. Genet., 12, 348-350.
-
(1996)
Nat. Genet.
, vol.12
, pp. 348-350
-
-
Estivill, X.1
-
10
-
-
0026780584
-
Molecular characterization of cystic fibrosis: 16 Novel mutations identified by analysis of the whole cystic fibrosis transmembrane conductance regulator (CFTR) coding regions and splice site junctions
-
Fanen, P., Ghanem, N., Vidaud, M. et al. (1992) Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis transmembrane conductance regulator (CFTR) coding regions and splice site junctions. Genomics, 13, 770-776.
-
(1992)
Genomics
, vol.13
, pp. 770-776
-
-
Fanen, P.1
Ghanem, N.2
Vidaud, M.3
-
11
-
-
0030749512
-
Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease
-
Friedman, K.J., Heim, R.A., Knowles, M.R. et al. (1997) Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease. Hum. Mut., 10, 108-115.
-
(1997)
Hum. Mut.
, vol.10
, pp. 108-115
-
-
Friedman, K.J.1
Heim, R.A.2
Knowles, M.R.3
-
12
-
-
0025947566
-
The fertility potential of male cystic fibrosis patients
-
Gottlieb, C., Ploen, L., Kvist, U. et al. (1991) The fertility potential of male cystic fibrosis patients. Int. J. Androl., 14, 437-440.
-
(1991)
Int. J. Androl.
, vol.14
, pp. 437-440
-
-
Gottlieb, C.1
Ploen, L.2
Kvist, U.3
-
13
-
-
0026713048
-
Birth of a normal girl after in vitro fertilization and preimplantation genetic diagnosic testing for cystic fibrosis
-
Handyside, A.H., Lesko, J.G., Tar'n, J.J. et al. (1992) Birth of a normal girl after in vitro fertilization and preimplantation genetic diagnosic testing for cystic fibrosis. N. Engl. J. Med., 327, 905-909.
-
(1992)
N. Engl. J. Med.
, vol.327
, pp. 905-909
-
-
Handyside, A.H.1
Lesko, J.G.2
Tar'n, J.J.3
-
14
-
-
0030860075
-
Genetic counselling before intracytoplasmic sperm injection
-
In't Veld, P.A , Halley, D.J.J., Van Hemcl, J.O., et al. (1997) Genetic counselling before intracytoplasmic sperm injection. Lancet, 350, 490.
-
(1997)
Lancet
, vol.350
, pp. 490
-
-
In't Veld, P.A.1
Halley, D.J.J.2
Van Hemcl, J.O.3
-
15
-
-
0026794668
-
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
-
Krawczak, M., Reiss, J., Cooper, D.N. (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum. Genet., 90, 41-54.
-
(1992)
Hum. Genet.
, vol.90
, pp. 41-54
-
-
Krawczak, M.1
Reiss, J.2
Cooper, D.N.3
-
16
-
-
0030614845
-
The Y chromosome and spermatogenesis
-
Kretser, D.M. and Burger, H.G. (1997) The Y chromosome and spermatogenesis. N. Engl. J. Med., 336, 576-577.
-
(1997)
N. Engl. J. Med.
, vol.336
, pp. 576-577
-
-
Kretser, D.M.1
Burger, H.G.2
-
17
-
-
0030687683
-
Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens
-
Mak, V., Jarvi, K. A., Zielenski, J. et al. (1997) Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens. Hum. Mol. Genet., 6, 2099-2107.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 2099-2107
-
-
Mak, V.1
Jarvi, K.A.2
Zielenski, J.3
-
18
-
-
0028794627
-
Is congenital 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. et al. (1995) Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. Am. J. Hum Genet., 56, 272-277.
-
(1995)
Am. J. Hum Genet.
, vol.56
, pp. 272-277
-
-
Mercier, B.1
Verlingue, C.2
Lissens, W.3
-
19
-
-
0031135612
-
The molecular genetics of male infertility
-
Meschede, D. and Horst, J. (1997) The molecular genetics of male infertility. Mol. Hum. Reprod., 3, 419-430.
-
(1997)
Mol. Hum. Reprod.
, vol.3
, pp. 419-430
-
-
Meschede, D.1
Horst, J.2
-
20
-
-
0030780563
-
CFTR gene mutations in men with bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles
-
Meschede, D., Dworniczak, B., Behre, H. M. et al. (1997) CFTR gene mutations in men with bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles. Am. J Hum. Genet., 61, 1200-1202.
-
(1997)
Am. J Hum. Genet.
, vol.61
, pp. 1200-1202
-
-
Meschede, D.1
Dworniczak, B.2
Behre, H.M.3
-
21
-
-
0024284028
-
A simple salting out procedure for extracting DNA from nucleated cells
-
Miller, S.A., Dykes, D.D. and Polensky, H.F. (1998) A simple salting out procedure for extracting DNA from nucleated cells. Nucleic Acids Res., 16, 1215.
-
(1998)
Nucleic Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polensky, H.F.3
-
22
-
-
0027438374
-
Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens
-
Osborae, L., Lynch, M., Middleton, P. et al. (1993) Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens. Hum. Mol. Genet, 2, 1605-1609.
-
(1993)
Hum. Mol. Genet
, vol.2
, pp. 1605-1609
-
-
Osborae, L.1
Lynch, M.2
Middleton, P.3
-
23
-
-
2442585118
-
Preliminary studies on the feasibility of preimplantation diagnosis for β-thalassaemia in Greece
-
Palmer, G., Traeger-Synodinos, J., Tzetis, M. et al. (1996) Preliminary studies on the feasibility of preimplantation diagnosis for β-thalassaemia in Greece. Hum. Reprod., 11, 94.
-
(1996)
Hum. Reprod.
, vol.11
, pp. 94
-
-
Palmer, G.1
Traeger-Synodinos, J.2
Tzetis, M.3
-
24
-
-
0030730447
-
Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection
-
W.
-
Pauer, H.U., Hinney, B., Michelmann, H., W. et al (1997) Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection. Hum. Reprod., 12, 1909-1912.
-
(1997)
Hum. Reprod.
, vol.12
, pp. 1909-1912
-
-
Pauer, H.U.1
Hinney, B.2
Michelmann, H.3
-
25
-
-
0029960243
-
CFTR gene variant IVS8-5T in disseminated bronchiectasis
-
Pignatti, P.F., Bombieri, C., Benetazzo M. et al. (1996) CFTR gene variant IVS8-5T in disseminated bronchiectasis. Am. J. Hum. Genet., 58, 889-892.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 889-892
-
-
Pignatti, P.F.1
Bombieri, C.2
Benetazzo, M.3
-
26
-
-
0031050740
-
Microdeletions in the Y chromosome of infertile men
-
Pryor, J.L., Kent-First, M., Muallem, A. et al. (1997) Microdeletions in the Y chromosome of infertile men. N. Engl. J. Med., 336, 534-539.
-
(1997)
N. Engl. J. Med.
, vol.336
, pp. 534-539
-
-
Pryor, J.L.1
Kent-First, M.2
Muallem, A.3
-
27
-
-
0031016388
-
The diagnosis of cystic fibrosis
-
Stern, R.C. (1997) The diagnosis of cystic fibrosis N. Engl J. Med., 336, 487-491.
-
(1997)
N. Engl J. Med.
, vol.336
, pp. 487-491
-
-
Stern, R.C.1
-
28
-
-
0031023970
-
Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells
-
Teng, H., Jonssen, M., Van Poppel, H. et al. (1997) Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells. Hum. Mol Genet., 6, 85-90.
-
(1997)
Hum. Mol Genet.
, vol.6
, pp. 85-90
-
-
Teng, H.1
Jonssen, M.2
Van Poppel, H.3
-
29
-
-
0027195534
-
Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues
-
Tizzano, E.F., Chitayat, D. and Buchwald, M. (1993) Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues. Hum. Mol. Genet., 2, 219-224.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 219-224
-
-
Tizzano, E.F.1
Chitayat, D.2
Buchwald, M.3
-
30
-
-
0027450848
-
CFTR expression is regulated during both the cycle of seminiferous epithelium and the oestrous cycle of rodents
-
Trezise, A.E.O., Linder, C.C., Grieger, D. et al. (1993) CFTR expression is regulated during both the cycle of seminiferous epithelium and the oestrous cycle of rodents. Nat. Genet., 3, 157-164.
-
(1993)
Nat. Genet.
, vol.3
, pp. 157-164
-
-
Trezise, A.E.O.1
Linder, C.C.2
Grieger, D.3
-
31
-
-
0026864933
-
Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene
-
Tucker, S.J., Tannahill, D. and Higgins, C F (1992) Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene. Hum. Mol. Genet., 1, 77-82.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 77-82
-
-
Tucker, S.J.1
Tannahill, D.2
Higgins, C.F.3
-
32
-
-
0031060651
-
Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations
-
Tzetis, M., Kanavakis, E., Antoniadi, Th. et al. (1997) Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations. Hum. Genet., 99, 121-125.
-
(1997)
Hum. Genet.
, vol.99
, pp. 121-125
-
-
Tzetis, M.1
Kanavakis, E.2
Antoniadi, Th.3
-
33
-
-
0029883545
-
Cystic fibrosis mutation screening in healthy men with reduced sperm quality
-
Van der Ven, K., Messer, L., Van der Ven, H. et al. (1996) Cystic fibrosis mutation screening in healthy men with reduced sperm quality. Hum. Reprod., 11, 513-517.
-
(1996)
Hum. Reprod.
, vol.11
, pp. 513-517
-
-
Van Der Ven, K.1
Messer, L.2
Van Der Ven, H.3
-
34
-
-
0000026508
-
Cystic fibrosis
-
Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), McGraw-Hill, New York
-
Welsh, M.J., Tsui, L-C., Boat, T.F. et al. (1995) Cystic fibrosis. In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic Bases of Inherited Disease. 7th edn. McGraw-Hill, New York, pp. 3799-3876.
-
(1995)
The Metabolic Bases of Inherited Disease. 7th Edn.
, pp. 3799-3876
-
-
Welsh, M.J.1
Tsui, L.-C.2
Boat, T.F.3
|