-
1
-
-
0026562867
-
Congenital bilateral absence of the vas deferens. A primary genital form of cystic fibrosis
-
Anguiano A, Gates RD, Amos JA, Dean M, Gerrard B, Stewart C, Maher TA, White MB, Milunsky A (1992) Congenital bilateral absence of the vas deferens. A primary genital form of cystic fibrosis. J Am Med Assoc 267:1794-1797
-
(1992)
J Am Med Assoc
, vol.267
, pp. 1794-1797
-
-
Anguiano, A.1
Gates, R.D.2
Amos, J.A.3
Dean, M.4
Gerrard, B.5
Stewart, C.6
Maher, T.A.7
White, M.B.8
Milunsky, A.9
-
2
-
-
0028124953
-
Congenital bilateral absence of vas deferens in the absence of cystic fibrosis
-
Augarten A, Yahav Y, Kerem BS, Halle D, Laufer J, Szeinberg A, Dor J, Mashiach S, Gazit E, Madgar I (1994) Congenital bilateral absence of vas deferens in the absence of cystic fibrosis. Lancet 344:1473-1474
-
(1994)
Lancet
, vol.344
, pp. 1473-1474
-
-
Augarten, A.1
Yahav, Y.2
Kerem, B.S.3
Halle, D.4
Laufer, J.5
Szeinberg, A.6
Dor, J.7
Mashiach, S.8
Gazit, E.9
Madgar, I.10
-
3
-
-
0027295745
-
A suggested nomenclature for designating mutations
-
Beaudet AL, Tsui L-C (1993) A suggested nomenclature for designating mutations. Hum Mutat 2:245-248
-
(1993)
Hum Mutat
, vol.2
, pp. 245-248
-
-
Beaudet, A.L.1
Tsui, L.-C.2
-
4
-
-
18144437929
-
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 J-C, Beldjord C (1996) A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients. Hum Mutat 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
-
5
-
-
0028878970
-
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, Chilión M, Giménez J, Ramos MD, Tapia G, Narváez H, Nunes V, Estivill X (1995) 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 95:205-211
-
(1995)
Hum Genet
, vol.95
, pp. 205-211
-
-
Casals, T.1
Bassas, L.2
Ruiz-Romero, J.3
Chilión, M.4
Giménez, J.5
Ramos, M.D.6
Tapia, G.7
Narváez, H.8
Nunes, V.9
Estivill, X.10
-
6
-
-
0028241858
-
Mapping of cystic fibrosis transmembrane conductance regulator membrane topology by glycosylation site insertion
-
Chang X-B, Hou Y-X, Jensen TJ, Riordan JR (1994) Mapping of cystic fibrosis transmembrane conductance regulator membrane topology by glycosylation site insertion. J Biol Chem 269:18572-18575
-
(1994)
J Biol Chem
, vol.269
, pp. 18572-18575
-
-
Chang, X.-B.1
Hou, Y.-X.2
Jensen, T.J.3
Riordan, J.R.4
-
7
-
-
0013645057
-
Congenital absence of the vas deferens
-
Charny CW, Gillenwater JY (1965) Congenital absence of the vas deferens. J Urol 93:399-401
-
(1965)
J Urol
, vol.93
, pp. 399-401
-
-
Charny, C.W.1
Gillenwater, J.Y.2
-
8
-
-
0030051032
-
Identification of cystic fibrosis transmembrane conductance regulator channel-lining residues in and flanking the M6 membrane-spanning segment
-
Cheung M, Akabas MH (1996) Identification of cystic fibrosis transmembrane conductance regulator channel-lining residues in and flanking the M6 membrane-spanning segment. Biophys J 70:2688-2695
-
(1996)
Biophys J
, vol.70
, pp. 2688-2695
-
-
Cheung, M.1
Akabas, M.H.2
-
9
-
-
0028265345
-
Analysis of the CFTR gene in the Spanish population: SSCP screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14)
-
Chillón M, Casals T, Giménez J, Nunes V, Estivill X (1994) Analysis of the CFTR gene in the Spanish population: SSCP screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14). Hum Mutat 3:223-230
-
(1994)
Hum Mutat
, vol.3
, pp. 223-230
-
-
Chillón, M.1
Casals, T.2
Giménez, J.3
Nunes, V.4
Estivill, X.5
-
10
-
-
0029025333
-
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, Romey M-C, Ruiz-Romero J, Verlingue C, Claustres M, Nunes V, Férec C, Estivill X (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
-
-
Chillón, M.1
Casals, T.2
Mercier, B.3
Bassas, L.4
Lissens, W.5
Silber, S.6
Romey, M.-C.7
Ruiz-Romero, J.8
Verlingue, C.9
Claustres, M.10
Nunes, V.11
Férec, C.12
Estivill, X.13
-
11
-
-
0025906695
-
Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium
-
Chu CS, Trapnell BC, Murtagh JJ jr. Moss J, Dalemans W, Jallat S, Mercenier A, Pavirani A, Lecocq J-P, Cutting GR, Guggino WB, Crystal RG (1991) Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium. EMBO J 10:1355-1363
-
(1991)
EMBO J
, vol.10
, pp. 1355-1363
-
-
Chu, C.S.1
Trapnell, B.C.2
Murtagh Jr., J.J.3
Moss, J.4
Dalemans, W.5
Jallat, S.6
Mercenier, A.7
Pavirani, A.8
Lecocq, J.-P.9
Cutting, G.R.10
Guggino, W.B.11
Crystal, R.G.12
-
12
-
-
0026656343
-
Extensive posttranscriptional deletion of the coding sequences for part of nucleotide binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestation of cystic fibrosis
-
Chu CS, Trapnell BC. Curristin SM, Cutting GR, Crystal RG (1992) Extensive posttranscriptional deletion of the coding sequences for part of nucleotide binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestation of cystic fibrosis. J Clin Invest 90:785-790
-
(1992)
J Clin Invest
, vol.90
, pp. 785-790
-
-
Chu, C.S.1
Trapnell, B.C.2
Curristin, S.M.3
Cutting, G.R.4
Crystal, R.G.5
-
13
-
-
0027502580
-
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
-
Chu CS, Trapnell B, Curristin SM, Cutting GR, Crystal RG (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.2
Curristin, S.M.3
Cutting, G.R.4
Crystal, R.G.5
-
14
-
-
0026773625
-
A rare mutation (1078delT) in exon 7 of the CFTR gene in a Southern French adult with cystic fibrosis
-
Claustres M, Gerrard B, White MB, Desgeorges M, Kjellberg P, Rollin B, Dean M (1992) A rare mutation (1078delT) in exon 7 of the CFTR gene in a Southern French adult with cystic fibrosis. Genomics 13:907-908
-
(1992)
Genomics
, vol.13
, pp. 907-908
-
-
Claustres, M.1
Gerrard, B.2
White, M.B.3
Desgeorges, M.4
Kjellberg, P.5
Rollin, B.6
Dean, M.7
-
15
-
-
0027234275
-
Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France
-
Claustres M, Laussel M, Desgeorges M, Giausily M, Culard J-F, Razakatsara G, Demaille J (1993) Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France. Hum Mol Genet 2:1209-1213
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1209-1213
-
-
Claustres, M.1
Laussel, M.2
Desgeorges, M.3
Giausily, M.4
Culard, J.-F.5
Razakatsara, G.6
Demaille, J.7
-
16
-
-
0029782355
-
Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens
-
Colin AA, Sawyer SM, Mickle JE, Oates RD, Milunsky A, Amos JA (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
Oates, R.D.4
Milunsky, A.5
Amos, J.A.6
-
18
-
-
0027018275
-
Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian patients, associated with different clinical phenotypes
-
Cremonesi L, Ferrari M, Belloni E, Magnani C, Seia M, Ronchetto P, Rady M, Russo MP, Romeo G, Devoto M (1992) Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian patients, associated with different clinical phenotypes. Hum Mutat 1:314-319
-
(1992)
Hum Mutat
, vol.1
, pp. 314-319
-
-
Cremonesi, L.1
Ferrari, M.2
Belloni, E.3
Magnani, C.4
Seia, M.5
Ronchetto, P.6
Rady, M.7
Russo, M.P.8
Romeo, G.9
Devoto, M.10
-
19
-
-
0028281799
-
Analysis of the whole CFTR coding region and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens
-
Culard J-F, Desgeorges M, Costa P, Laussel M, Ratzakatzara G, Navratil H, Demaille J, Claustres M (1994) Analysis of the whole CFTR coding region and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens. Hum Genet 93:467-470
-
(1994)
Hum Genet
, vol.93
, pp. 467-470
-
-
Culard, J.-F.1
Desgeorges, M.2
Costa, P.3
Laussel, M.4
Ratzakatzara, G.5
Navratil, H.6
Demaille, J.7
Claustres, M.8
-
20
-
-
0027730638
-
Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene
-
Cuppens H, Marynen P, De Boeck C, Cassiman JJ (1993) Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene. Genomics 18:693-697
-
(1993)
Genomics
, vol.18
, pp. 693-697
-
-
Cuppens, H.1
Marynen, P.2
De Boeck, C.3
Cassiman, J.J.4
-
21
-
-
0025310336
-
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein
-
Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui L-C, Antonarakis SE, Kazazian HH jr (1990) A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature 346:366-369
-
(1990)
Nature
, vol.346
, pp. 366-369
-
-
Cutting, G.R.1
Kasch, L.M.2
Rosenstein, B.J.3
Zielenski, J.4
Tsui, L.-C.5
Antonarakis, S.E.6
Kazazian Jr., H.H.7
-
22
-
-
0025312731
-
Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients
-
Dean M, White M, Amos J, Gerrard B, Stewart C, Khaw KT, Leppert M (1990) Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 61:863-870
-
(1990)
Cell
, vol.61
, pp. 863-870
-
-
Dean, M.1
White, M.2
Amos, J.3
Gerrard, B.4
Stewart, C.5
Khaw, K.T.6
Leppert, M.7
-
23
-
-
0030220843
-
Description of a symptomless cystic fibrosis L346P/ M348K compound heterozygous Cypriot individual
-
Deltas CC, Boteva K, Georgiou A, Papageorgiou E, Georgiou C (1996) Description of a symptomless cystic fibrosis L346P/ M348K compound heterozygous Cypriot individual. Mol Cell Probes 10:315-318
-
(1996)
Mol Cell Probes
, vol.10
, pp. 315-318
-
-
Deltas, C.C.1
Boteva, K.2
Georgiou, A.3
Papageorgiou, E.4
Georgiou, C.5
-
24
-
-
0029151625
-
Severity of disease in cystic fibrosis
-
Dork T, Stuhrmann M (1995) Severity of disease in cystic fibrosis. Lancet 346:1036-1037
-
(1995)
Lancet
, vol.346
, pp. 1036-1037
-
-
Dork, T.1
Stuhrmann, M.2
-
25
-
-
0026551786
-
Intra- And extragenic marker haplotypes of CFTR mutations in cystic fibrosis families
-
Dork T, Neumann T, Wulbrand U, Wulf B, Kälin N, Maass G, Krawczak M, Guillermit H, Ferec C, Horn G, Klinger K, Kerem BS, Zielenski J, Tsui L-C, Tümmler B (1992) Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families. Hum Genet 88:417-425
-
(1992)
Hum Genet
, vol.88
, pp. 417-425
-
-
Dork, T.1
Neumann, T.2
Wulbrand, U.3
Wulf, B.4
Kälin, N.5
Maass, G.6
Krawczak, M.7
Guillermit, H.8
Ferec, C.9
Horn, G.10
Klinger, K.11
Kerem, B.S.12
Zielenski, J.13
Tsui, L.-C.14
Tümmler, B.15
-
26
-
-
0028140183
-
Exon 9 of the CFTR gene: Splice site haplotypes and cystic fibrosis mutations
-
Dörk T, Fislage R, Neumann T, Wulf B, Tümmler B (1994a) Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations. Hum Genet 93:67-73
-
(1994)
Hum Genet
, vol.93
, pp. 67-73
-
-
Dörk, T.1
Fislage, R.2
Neumann, T.3
Wulf, B.4
Tümmler, B.5
-
27
-
-
0027995444
-
Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients
-
Dork T, Mekus F, Schmidt K, Boßhammer J, Fislage R, Heuer T, Dziadek V, Neumann T, Kälin N, Wulbrand U, Wulf B, Hardt H von der, Maass G, Tümmler B (1994b) Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. Hum Genet 94:533-542
-
(1994)
Hum Genet
, vol.94
, pp. 533-542
-
-
Dork, T.1
Mekus, F.2
Schmidt, K.3
Boßhammer, J.4
Fislage, R.5
Heuer, T.6
Dziadek, V.7
Neumann, T.8
Kälin, N.9
Wulbrand, U.10
Wulf, B.11
Von der Hardt, H.12
Maass, G.13
Tümmler, B.14
-
28
-
-
0030071693
-
Cystic fibrosis 3849+10kB C→T mutation associated with severe pulmonary disease and male fertility
-
Dreyfus DH, Bethel R, Gelfand EW (1996) Cystic fibrosis 3849+10kB C→T mutation associated with severe pulmonary disease and male fertility. Am J Respir Crit Care Med 153:858-860
-
(1996)
Am J Respir Crit Care Med
, vol.153
, pp. 858-860
-
-
Dreyfus, D.H.1
Bethel, R.2
Gelfand, E.W.3
-
29
-
-
0015111119
-
Etiologic factors in 1294 consecutive cases of male infertility
-
Dubin L, Amelar RD (1971) Etiologic factors in 1294 consecutive cases of male infertility. Fertil Steril 22:469
-
(1971)
Fertil Steril
, vol.22
, pp. 469
-
-
Dubin, L.1
Amelar, R.D.2
-
30
-
-
0024988766
-
Abnormal distribution of CF ΔF508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens
-
Dumur V, Gervais R, Rigot J-M, Lafitte J-J, Manouvrier S, Biserte J, Mazeman E, Roussel P (1990) Abnormal distribution of CF ΔF508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens. Lancet 336:512
-
(1990)
Lancet
, vol.336
, pp. 512
-
-
Dumur, V.1
Gervais, R.2
Rigot, J.-M.3
Lafitte, J.-J.4
Manouvrier, S.5
Biserte, J.6
Mazeman, E.7
Roussel, P.8
-
31
-
-
0030032379
-
Congenital bilateral absence of vas deferens (CBAVD) and cystic fibrosis transmembrane regulator: Correlation between genotype and phenotype
-
Dumur V, Gervais R. Rigot J-M, Delomel-Vinner E, Decaestecker B, Lafitte J-J, Roussel P (1996) Congenital bilateral absence of vas deferens (CBAVD) and cystic fibrosis transmembrane regulator: correlation between genotype and phenotype. Hum Genet 97:7-10
-
(1996)
Hum Genet
, vol.97
, pp. 7-10
-
-
Dumur, V.1
Gervais, R.2
Rigot, J.-M.3
Delomel-Vinner, E.4
Decaestecker, B.5
Lafitte, J.-J.6
Roussel, P.7
-
32
-
-
0028795401
-
Diagnostic criteria for cystic fibrosis in men with congenital absence of the vas deferens
-
Durieu I, Bey-Omar F, Rollet J, Calemard L, Boggio D, Lejeune H, Gilly R, Morel Y, Durand DV (1995) Diagnostic criteria for cystic fibrosis in men with congenital absence of the vas deferens. Medicine 74:42-47
-
(1995)
Medicine
, vol.74
, pp. 42-47
-
-
Durieu, I.1
Bey-Omar, F.2
Rollet, J.3
Calemard, L.4
Boggio, D.5
Lejeune, H.6
Gilly, R.7
Morel, Y.8
Durand, D.V.9
-
33
-
-
0029928789
-
Complexity in a monogenic disease
-
Estivill X (1996) Complexity in a monogenic disease. Nat Genet 12:348-350
-
(1996)
Nat Genet
, vol.12
, pp. 348-350
-
-
Estivill, X.1
-
34
-
-
0023446123
-
Pattern of polymorphism and linkage disequilibrium for cystic fibrosis
-
Estivill X, Scambler PJ, Wainwright BJ, Hawley K, Frederick P, Schwanz M, Baiget M, Kere J, Williamson R, Farrall M (1987) Pattern of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics 1:257-263
-
(1987)
Genomics
, vol.1
, pp. 257-263
-
-
Estivill, X.1
Scambler, P.J.2
Wainwright, B.J.3
Hawley, K.4
Frederick, P.5
Schwanz, M.6
Baiget, M.7
Kere, J.8
Williamson, R.9
Farrall, M.10
-
35
-
-
0026780584
-
Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions
-
Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M (1992) Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane 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
Besmond, C.4
Martin, J.5
Costes, B.6
Plassa, F.7
Goossens, M.8
-
36
-
-
0027395872
-
The changing epidemiology of cystic fibrosis
-
FitzSimmons S (1993) The changing epidemiology of cystic fibrosis. J Pediatr 122:1-9
-
(1993)
J Pediatr
, vol.122
, pp. 1-9
-
-
Fitzsimmons, S.1
-
37
-
-
0025762972
-
The search for South European cystic fibrosis mutations: Identification of two new mutations, four variants and intronic sequences
-
Gasparini P, Nunes V, Savoia A, Dognini M, Morral N, Gaona A, Bonizzato A, Chillón M, Sangiulo F, Novelli G, Dallapiccola B, Pignatti PF, Estivill X (1991) The search for South European cystic fibrosis mutations: identification of two new mutations, four variants and intronic sequences. Genomics 10:193-200
-
(1991)
Genomics
, vol.10
, pp. 193-200
-
-
Gasparini, P.1
Nunes, V.2
Savoia, A.3
Dognini, M.4
Morral, N.5
Gaona, A.6
Bonizzato, A.7
Chillón, M.8
Sangiulo, F.9
Novelli, G.10
Dallapiccola, B.11
Pignatti, P.F.12
Estivill, X.13
-
38
-
-
0027533326
-
High frequency of the RI 17H cystic fibrosis mutation in patients with congenital absence of the vas deferens
-
Gervais R, Dumur V, Rigot J-M (1993) High frequency of the RI 17H cystic fibrosis mutation in patients with congenital absence of the vas deferens. N Engl J Med 328:446-447
-
(1993)
N Engl J Med
, vol.328
, pp. 446-447
-
-
Gervais, R.1
Dumur, V.2
Rigot, J.-M.3
-
39
-
-
16144364149
-
Hypofertility with thick cervical mucus: Another mild form of cystic fibrosis?
-
Gervais R, Dumur V, Letombe B, Larde A, Rigot JM, Roussel P, Lafitte JJ (1996) Hypofertility with thick cervical mucus: another mild form of cystic fibrosis? J Am Med Assoc 276:1638
-
(1996)
J Am Med Assoc
, vol.276
, pp. 1638
-
-
Gervais, R.1
Dumur, V.2
Letombe, B.3
Larde, A.4
Rigot, J.M.5
Roussel, P.6
Lafitte, J.J.7
-
40
-
-
9244225677
-
A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis
-
Gibson LE, Cooke RE (1959) A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics 23:545-549
-
(1959)
Pediatrics
, vol.23
, pp. 545-549
-
-
Gibson, L.E.1
Cooke, R.E.2
-
41
-
-
0025043485
-
Vasa aplasia and cystic fibrosis
-
Heaton ND, Pryor JP (1990) Vasa aplasia and cystic fibrosis. Br J Urol 66:538-540
-
(1990)
Br J Urol
, vol.66
, pp. 538-540
-
-
Heaton, N.D.1
Pryor, J.P.2
-
42
-
-
0026621245
-
ABC transporters: From microorganisms to man
-
Higgins CF (1992) ABC transporters: from microorganisms to man. Annu Rev Cell Biol 8:67-113
-
(1992)
Annu Rev Cell Biol
, vol.8
, pp. 67-113
-
-
Higgins, C.F.1
-
43
-
-
0028086056
-
A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations
-
Highsmith WE jr, Burch LH, Zhou Z, Olsen JC, Boat TF, Spock A, Gorvoy JD, Quittell L, Friedman KJ, Silverman LM, Boucher RC, Knowles MR (1994) A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med 331:974-980
-
(1994)
N Engl J Med
, vol.331
, pp. 974-980
-
-
Highsmith Jr., W.E.1
Burch, L.H.2
Zhou, Z.3
Olsen, J.C.4
Boat, T.F.5
Spock, A.6
Gorvoy, J.D.7
Quittell, L.8
Friedman, K.J.9
Silverman, L.M.10
Boucher, R.C.11
Knowles, M.R.12
-
44
-
-
16944365648
-
Identification of a splice site mutation (2789+5G->A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis
-
Highsmith WE jr, Burch LH, Zhou Z, Olsen JC, Strong TV, Smith T, Friedman KJ, Silverman LM, Boucher RC, Collins FS, Knowles MR (1997) Identification of a splice site mutation (2789+5G->A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis. Hum Mutat 9:332-338
-
(1997)
Hum Mutat
, vol.9
, pp. 332-338
-
-
Highsmith Jr., W.E.1
Burch, L.H.2
Zhou, Z.3
Olsen, J.C.4
Strong, T.V.5
Smith, T.6
Friedman, K.J.7
Silverman, L.M.8
Boucher, R.C.9
Collins, F.S.10
Knowles, M.R.11
-
46
-
-
0029019461
-
Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia
-
Jarvi K, Zielenski J, Wilschanski M, Durie P, Buckspan M, Tullis E, Markiewicz D, Tsui L-C (1995) Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia. Lancet 345:1578
-
(1995)
Lancet
, vol.345
, pp. 1578
-
-
Jarvi, K.1
Zielenski, J.2
Wilschanski, M.3
Durie, P.4
Buckspan, M.5
Tullis, E.6
Markiewicz, D.7
Tsui, L.-C.8
-
47
-
-
0021902998
-
Congenital absence of the vasa deferentia presenting with infertility
-
Jequier AM, Ansell ID, 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
-
-
Jequier, A.M.1
Ansell, I.D.2
Bullimore, N.J.3
-
48
-
-
0030131163
-
Identification of a novel mutation in CFTR gene exon 8 (L375F) in a CUAVD phenotype
-
Jézéquel P, Chauvel B, Le Treut A, Le Gall JY, David V, Le Lannou D, Blayau M (1996) Identification of a novel mutation in CFTR gene exon 8 (L375F) in a CUAVD phenotype. Hum Genet 97:548-549
-
(1996)
Hum Genet
, vol.97
, pp. 548-549
-
-
Jézéquel, P.1
Chauvel, B.2
Le Treut, A.3
Le Gall, J.Y.4
David, V.5
Le Lannou, D.6
Blayau, M.7
-
49
-
-
0014411090
-
Reproductive failure in males with cystic fibrosis
-
Kaplan E, Shwachman H, Perlmutter AD, Rule A, Khaw KT, Holsclaw DS (1968) Reproductive failure in males with cystic fibrosis. N Engl J Med 279:65-69
-
(1968)
N Engl J Med
, vol.279
, pp. 65-69
-
-
Kaplan, E.1
Shwachman, H.2
Perlmutter, A.D.3
Rule, A.4
Khaw, K.T.5
Holsclaw, D.S.6
-
50
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem BS, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui L-C (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245:1073-1080
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.S.1
Rommens, J.M.2
Buchanan, J.A.3
Markiewicz, D.4
Cox, T.K.5
Chakravarti, A.6
Buchwald, M.7
Tsui, L.-C.8
-
51
-
-
0025133518
-
Identification of mutations in regions corresponding to the two putative nucleotide (ATP-) binding folds of the cystic fibrosis gene
-
Kerem BS, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahaf J, Kennedy D, Riordan JR, Collins FS, Rommens JM, Tsui L-C (1990) Identification of mutations in regions corresponding to the two putative nucleotide (ATP-) binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA 87:8447-8451
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 8447-8451
-
-
Kerem, B.S.1
Zielenski, J.2
Markiewicz, D.3
Bozon, D.4
Gazit, E.5
Yahaf, J.6
Kennedy, D.7
Riordan, J.R.8
Collins, F.S.9
Rommens, J.M.10
Tsui, L.-C.11
-
52
-
-
0027521663
-
A mutation in CFTR produces different phenotypes depending on the chromosomal background
-
Kiesewetter S, Macek M jr, Davis C, Curristin MS, Chu C-S, Graham C, Shrimpton AE, Cashman SM, Tsui L-C, Mickle J, Amos J, Highsmith WE jr, Shuber A, Witt DR, Crystal RG, Cutting GR (1993) A mutation in CFTR produces different phenotypes depending on the chromosomal background. Nat Genet 5:274-277
-
(1993)
Nat Genet
, vol.5
, pp. 274-277
-
-
Kiesewetter, S.1
Macek Jr., M.2
Davis, C.3
Curristin, M.S.4
Chu, C.-S.5
Graham, C.6
Shrimpton, A.E.7
Cashman, S.M.8
Tsui, L.-C.9
Mickle, J.10
Amos, J.11
Highsmith Jr., W.E.12
Shuber, A.13
Witt, D.R.14
Crystal, R.G.15
Cutting, G.R.16
-
55
-
-
0029792944
-
The genetics of male infertility
-
Mak V, Jarvi K (1996) The genetics of male infertility. J Urol 156:1245-1257
-
(1996)
J Urol
, vol.156
, pp. 1245-1257
-
-
Mak, V.1
Jarvi, K.2
-
56
-
-
0028111941
-
Novel pore-lining residues in CFTR that govern permeation and open-channel block
-
McDonough S, Davidson N, Lester HA, McCarty NA (1994) Novel pore-lining residues in CFTR that govern permeation and open-channel block. Neuron 13:623-634
-
(1994)
Neuron
, vol.13
, pp. 623-634
-
-
McDonough, S.1
Davidson, N.2
Lester, H.A.3
McCarty, N.A.4
-
57
-
-
0027518961
-
Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations
-
Mercier B, Lissens W, Audrezet MP, Bonduelle M, Liebaers J, Ferec C (1993) Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations. Hum Mutat 2:16-20
-
(1993)
Hum Mutat
, vol.2
, pp. 16-20
-
-
Mercier, B.1
Lissens, W.2
Audrezet, M.P.3
Bonduelle, M.4
Liebaers, J.5
Ferec, C.6
-
58
-
-
0028794627
-
Is congenital 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, Audrezet MP, Ferec C (1995) Is congenital 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
Silber, S.J.4
Novelli, G.5
Bonduelle, M.6
Audrezet, M.P.7
Ferec, C.8
-
59
-
-
0027366996
-
Compound heterozygosity for the AF508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens
-
Meschede D, Eigel A, Horst J, Nieschlag E (1993) Compound heterozygosity for the AF508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens. Am J Hum Genet 53:292-293
-
(1993)
Am J Hum Genet
, vol.53
, pp. 292-293
-
-
Meschede, D.1
Eigel, A.2
Horst, J.3
Nieschlag, E.4
-
60
-
-
0029086620
-
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 (1995) 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 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
-
61
-
-
0006554195
-
Congenital absence of the vas deferens: A review of the literature and report of three cases
-
Nelson RE (1950) Congenital absence of the vas deferens: a review of the literature and report of three cases. J Urol 63:176-182
-
(1950)
J Urol
, vol.63
, pp. 176-182
-
-
Nelson, R.E.1
-
62
-
-
0028069337
-
The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis
-
Oates RD, Amos JA (1994) The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis. J Androl 15:1-8
-
(1994)
J Androl
, vol.15
, pp. 1-8
-
-
Oates, R.D.1
Amos, J.A.2
-
63
-
-
0025966771
-
A mutation in the second nucleotide binding fold of the cystic fibrosis gene
-
Osborne L, Knight RA, Santis G, Hodson M (1991) A mutation in the second nucleotide binding fold of the cystic fibrosis gene. Am J Hum Genet 48:608-612
-
(1991)
Am J Hum Genet
, vol.48
, pp. 608-612
-
-
Osborne, L.1
Knight, R.A.2
Santis, G.3
Hodson, M.4
-
64
-
-
0027438374
-
Nasal epithelial ion transport and genetic analysis of infertile men with congenital absence of the vas deferens
-
Osborne LR, Lynch M, Middleton PG, Alton EWFW, Geddes DM, Pryor JP, Hodson ME, Santis GK (1993) Nasal epithelial ion transport and genetic analysis of infertile men with congenital absence of the vas deferens. Hum Mol Genet 2:1605-1609
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1605-1609
-
-
Osborne, L.R.1
Lynch, M.2
Middleton, P.G.3
Alton, E.W.F.W.4
Geddes, D.M.5
Pryor, J.P.6
Hodson, M.E.7
Santis, G.K.8
-
65
-
-
0027503539
-
Aetiology of congenital absence of vas deferens: Genetic study of three generations
-
Patrizio P, Asch RH, Handelin B, Silber SJ (1993) Aetiology of congenital absence of vas deferens: genetic study of three generations. Hum Reprod 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
-
66
-
-
0029057474
-
CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens
-
Rave-Harel N, Madgar T, Goshen R, Nissim-Raffinia M, Ziadni A, Rabat A, Chiba O, Kaiman YM, Brautbar C, Levinson D. Augarten A, Kerem E, Kerem B (1995) CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. Am J Hum Genet 56:1359-1366
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1359-1366
-
-
Rave-Harel, N.1
Madgar, T.2
Goshen, R.3
Nissim-Raffinia, M.4
Ziadni, A.5
Rabat, A.6
Chiba, O.7
Kaiman, Y.M.8
Brautbar, C.9
Levinson, D.10
Augarten, A.11
Kerem, E.12
Kerem, B.13
-
67
-
-
0024424270
-
Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
-
Riordan JR, Rommens JM, Kerem BS, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, Drumm ML, Iannuzzi ML, Collins FS, Tsui L-C (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245:1066-1073
-
(1989)
Science
, vol.245
, pp. 1066-1073
-
-
Riordan, J.R.1
Rommens, J.M.2
Kerem, B.S.3
Alon, N.4
Rozmahel, R.5
Grzelczak, Z.6
Zielenski, J.7
Lok, S.8
Plavsic, N.9
Chou, J.L.10
Drumm, M.L.11
Iannuzzi, M.L.12
Collins, F.S.13
Tsui, L.-C.14
-
68
-
-
0024453308
-
Identification of the cystic fibrosis gene: Chromosome walking and jumping
-
Rommens JM, Iannuzzi MC, Kerem BS, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, Zsiga M, Buchwald M, Riordan JR, Tsui L-C, Collins FS (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245:1059-1065
-
(1989)
Science
, vol.245
, pp. 1059-1065
-
-
Rommens, J.M.1
Iannuzzi, M.C.2
Kerem, B.S.3
Drumm, M.L.4
Melmer, G.5
Dean, M.6
Rozmahel, R.7
Cole, J.L.8
Kennedy, D.9
Hidaka, N.10
Zsiga, M.11
Buchwald, M.12
Riordan, J.R.13
Tsui, L.-C.14
Collins, F.S.15
-
69
-
-
13344282728
-
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
-
Rozmahel R, Wilschanski M, Matin A, Plyte S, Oliver M, Auerbach W, Moore A, Forstner J, Durie P, Nadeau J, Bear C, Tsui L-C (1996) Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet 12:280-287
-
(1996)
Nat Genet
, vol.12
, pp. 280-287
-
-
Rozmahel, R.1
Wilschanski, M.2
Matin, A.3
Plyte, S.4
Oliver, M.5
Auerbach, W.6
Moore, A.7
Forstner, J.8
Durie, P.9
Nadeau, J.10
Bear, C.11
Tsui, L.-C.12
-
70
-
-
0016704191
-
Congenital absence of the vas deferens
-
Rubin SO (1975) Congenital absence of the vas deferens. Scand J Urol Nephrol 9:94-99
-
(1975)
Scand J Urol Nephrol
, vol.9
, pp. 94-99
-
-
Rubin, S.O.1
-
71
-
-
0019203834
-
Autosomal recessive hereditary congenital aplasia of the vasa deferentia in four siblings
-
Schellen TMCM, Stratten A van (1980) Autosomal recessive hereditary congenital aplasia of the vasa deferentia in four siblings. Fertil Steril 35:401-404
-
(1980)
Fertil Steril
, vol.35
, pp. 401-404
-
-
Schellen, T.M.C.M.1
Van Stratten, A.2
-
72
-
-
0029910820
-
Cytoplasmic loop three of cystic fibrosis transmembrane conductance regulator contributes to regulation of chloride channel activity
-
Seibert FS, Linsdell P, Loo TW, Hanrahan JW, Riordan JR, Clarke DM (1996) Cytoplasmic loop three of cystic fibrosis transmembrane conductance regulator contributes to regulation of chloride channel activity. J Biol Chem 271:27493-27499
-
(1996)
J Biol Chem
, vol.271
, pp. 27493-27499
-
-
Seibert, F.S.1
Linsdell, P.2
Loo, T.W.3
Hanrahan, J.W.4
Riordan, J.R.5
Clarke, D.M.6
-
73
-
-
0027408231
-
Mutations in CFTR associated with mild disease form Cl- Channels with altered pore properties
-
Sheppard DN, Rich DP, Ostedgaard LS, Gregory RJ, Smith AE, Welsh MJ (1993) Mutations in CFTR associated with mild disease form Cl- channels with altered pore properties. Nature 362:160-164
-
(1993)
Nature
, vol.362
, pp. 160-164
-
-
Sheppard, D.N.1
Rich, D.P.2
Ostedgaard, L.S.3
Gregory, R.J.4
Smith, A.E.5
Welsh, M.J.6
-
74
-
-
0031016388
-
The diagnosis of cystic fibrosis
-
Stern RC (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
-
75
-
-
0020071280
-
Obstructive azoospermia as a diagnostic criterion for the cystic fibrosis syndrome
-
Stern RC, Boat TF, Doershuk CF (1982) Obstructive azoospermia as a diagnostic criterion for the cystic fibrosis syndrome. Lancet I:1401-1403
-
(1982)
Lancet I
, pp. 1401-1403
-
-
Stern, R.C.1
Boat, T.F.2
Doershuk, C.F.3
-
76
-
-
0029097956
-
3849+10kB C→T mutation and disease severity in cystic fibrosis
-
Stern RC, Doershuk CF, Drumm ML (1995) 3849+10kB C→T mutation and disease severity in cystic fibrosis. Lancet 346:274-276
-
(1995)
Lancet
, vol.346
, pp. 274-276
-
-
Stern, R.C.1
Doershuk, C.F.2
Drumm, M.L.3
-
77
-
-
0027423190
-
Multi-ion pore behaviour in the CFTR chloride channel
-
Tabcharani JA, Rommens JM, Hou X-Y, Chang X-B, Tsui L-C, Riordan JR, Hanrahan JW (1993) Multi-ion pore behaviour in the CFTR chloride channel. Nature 366:79-82
-
(1993)
Nature
, vol.366
, pp. 79-82
-
-
Tabcharani, J.A.1
Rommens, J.M.2
Hou, X.-Y.3
Chang, X.-B.4
Tsui, L.-C.5
Riordan, J.R.6
Hanrahan, J.W.7
-
78
-
-
0015518771
-
Fertility in males with cystic fibrosis
-
Taussig LM, Lobeck CC, Di Saint'Agnese PA, Ackerman DR, Kattwinkel J (1972) Fertility in males with cystic fibrosis. N Engl J Med 287:586-589
-
(1972)
N Engl J Med
, vol.287
, pp. 586-589
-
-
Taussig, L.M.1
Lobeck, C.C.2
Di SainT'Agnese, P.A.3
Ackerman, D.R.4
Kattwinkel, J.5
-
79
-
-
0031023970
-
Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells
-
Teng H, Jorissen M, Van Poppel H, Legius E, Cassiman J-J, Cuppens H (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
Jorissen, M.2
Van Poppel, H.3
Legius, E.4
Cassiman, J.-J.5
Cuppens, H.6
-
80
-
-
0025013961
-
Three mutations in the CFTR gene in French cystic fibrosis patients: Identification by denaturing gradient gel electrophoresis
-
Vidaud M, Fanen P, Martin J, Ghanem N, Nicholas S, Goossens M (1990) Three mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis. Hum Genet 85:446-449
-
(1990)
Hum Genet
, vol.85
, pp. 446-449
-
-
Vidaud, M.1
Fanen, P.2
Martin, J.3
Ghanem, N.4
Nicholas, S.5
Goossens, M.6
-
81
-
-
0000026508
-
Cystic fibrosis
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGrawHill, New York
-
Welsh MJ, Tsui L-C, Boat TF, Beaudet AL (1995) Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGrawHill, New York, pp 3799-3876
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edn.
, pp. 3799-3876
-
-
Welsh, M.J.1
Tsui, L.-C.2
Boat, T.F.3
Beaudet, A.L.4
-
82
-
-
16044362187
-
Diversity of reproductive tract abnormalities in men with cystic fibrosis
-
Wilschanski M, Corey M, Durie P, Tullis E, Bain J, Asch M, Ginzburg B, Jarvi K, Buckspan M, Hartwick W (1996) Diversity of reproductive tract abnormalities in men with cystic fibrosis. J Am Med Assoc 276:607-608
-
(1996)
J Am Med Assoc
, vol.276
, pp. 607-608
-
-
Wilschanski, M.1
Corey, M.2
Durie, P.3
Tullis, E.4
Bain, J.5
Asch, M.6
Ginzburg, B.7
Jarvi, K.8
Buckspan, M.9
Hartwick, W.10
-
83
-
-
0029616734
-
Cystic fibrosis: Genotypic and phenotypic variations
-
Zielenski J, Tsui L-C (1995) Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet 29:777-807
-
(1995)
Annu Rev Genet
, vol.29
, pp. 777-807
-
-
Zielenski, J.1
Tsui, L.-C.2
-
84
-
-
0025760318
-
Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
-
Zielenski J, Rozmahel R, Bozon D, Kerem BS, Grzelczak Z, Riordan JR, Rommens JM, Tsui L-C (1991a) Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10:214-228
-
(1991)
Genomics
, vol.10
, pp. 214-228
-
-
Zielenski, J.1
Rozmahel, R.2
Bozon, D.3
Kerem, B.S.4
Grzelczak, Z.5
Riordan, J.R.6
Rommens, J.M.7
Tsui, L.-C.8
-
85
-
-
0025909386
-
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
-
Zielenski J, Bozon D, Kerem BS, Markiewicz D, Durie P, Rommens JM, Tsui L-C (1991b) Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10:229-235
-
(1991)
Genomics
, vol.10
, pp. 229-235
-
-
Zielenski, J.1
Bozon, D.2
Kerem, B.S.3
Markiewicz, D.4
Durie, P.5
Rommens, J.M.6
Tsui, L.-C.7
-
86
-
-
0029151485
-
CFTR gene variant for patients with congenital absence of vas deferens
-
Zielenski J, Patrizio P, Corey M, Handelin B, Markiewicz D, Asch R, Tsui L-C (1995) CFTR gene variant for patients with congenital absence of vas deferens. Am J Hum Genet 57:958-960
-
(1995)
Am J Hum Genet
, vol.57
, pp. 958-960
-
-
Zielenski, J.1
Patrizio, P.2
Corey, M.3
Handelin, B.4
Markiewicz, D.5
Asch, R.6
Tsui, L.-C.7
|