-
1
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem B, Rommens JM, Buchanan JA et al: Identification of the cystic fibrosis gene: genetic analysis. Science 1989; 245: 1073-1080.
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.1
Rommens, J.M.2
Buchanan, J.A.3
-
2
-
-
0029019611
-
Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel
-
Kerem E, Kalman YM, Yahav Y et al: Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel. Hum Genet 1995; 96: 193-197.
-
(1995)
Hum Genet
, vol.96
, pp. 193-197
-
-
Kerem, E.1
Kalman, Y.M.2
Yahav, Y.3
-
3
-
-
0025909386
-
Identification of mutations in exon 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
-
Zielenski J, Bozon D, Kerem B, Markiewicz D, Durie P, Rommens JM, Tsui L-C: Identification of mutations in exon 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991; 10: 229-235.
-
(1991)
Genomics
, vol.10
, pp. 229-235
-
-
Zielenski, J.1
Bozon, D.2
Kerem, B.3
Markiewicz, D.4
Durie, P.5
Rommens, J.M.6
Tsui, L.-C.7
-
4
-
-
0029025333
-
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
-
Chillion M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey M-C: 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
-
-
Chillion, M.1
Casals, T.2
Mercier, B.3
Bassas, L.4
Lissens, W.5
Silber, S.6
Romey, M.-C.7
-
5
-
-
0029019461
-
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
-
6
-
-
0031037337
-
The molecular basis of partial penetrance of splicing mutations in cystic fibrosis
-
Rave-Hare N, Kerem E, Nissan-Rafinia M et al: The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. Am J Hum Genet 1997; 60: 87-94.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 87-94
-
-
Rave-Hare, N.1
Kerem, E.2
Nissan-Rafinia, M.3
-
7
-
-
8244257360
-
A CFTR splice variant with partial penetrance associated with variable cystic fibrosis presentation
-
Kerem E, Rave-Harel N, Augarten A et al: A CFTR splice variant with partial penetrance associated with variable cystic fibrosis presentation. Am J Respir Crit Care Med 1997; 155: 1914-1920.
-
(1997)
Am J Respir Crit Care Med
, vol.155
, pp. 1914-1920
-
-
Kerem, E.1
Rave-Harel, N.2
Augarten, A.3
-
8
-
-
0025760318
-
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
-
9
-
-
0025068849
-
Rapid nonradioactive detection of the major cystic fibrosis mutation
-
Rommens JM, Kerem B, Greer W, Chang P, Tsui L-C, Ray P: Rapid nonradioactive detection of the major cystic fibrosis mutation. Am J Hum Genet 1990; 46: 395-396.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 395-396
-
-
Rommens, J.M.1
Kerem, B.2
Greer, W.3
Chang, P.4
Tsui, L.-C.5
Ray, P.6
-
10
-
-
0031219150
-
A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype
-
Kerem E, Nissim-Rafinia M, Argaman Z et al: A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype. Pediatric 1997; 100: 1-6.
-
(1997)
Pediatric
, vol.100
, pp. 1-6
-
-
Kerem, E.1
Nissim-Rafinia, M.2
Argaman, Z.3
-
11
-
-
0000026508
-
Cystic fibrosis
-
Scriver CL, Beaudet AL, Sly WS, Valle D (eds): MacGraw-Hill, New York
-
Welsh MJ, Tsui L-C, Boat TF, Beaudet AL: Cystic fibrosis.. In Scriver CL, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease, 7th edn. MacGraw-Hill, New York, 1995; pp 3799-3876.
-
(1995)
The Metabolic Basis of Inherited Disease, 7th Edn.
, pp. 3799-3876
-
-
Welsh, M.J.1
Tsui, L.-C.2
Boat, T.F.3
Beaudet, A.L.4
-
12
-
-
0028025362
-
The costs of human inbreeding and their implications for variations at the DNA level
-
Bittles AH, Neel JV: The costs of human inbreeding and their implications for variations at the DNA level. Nat Gen 1994; 8: 117-121.
-
(1994)
Nat Gen
, vol.8
, pp. 117-121
-
-
Bittles, A.H.1
Neel, J.V.2
-
13
-
-
0028295887
-
Consanguineous matings in an Israeli-Arab community
-
Jaber L, Bailey-Wilson JE, Haj-Yehia M, Hernandez J, Shohat M: Consanguineous matings in an Israeli-Arab community. Arch Pediatr Adolesc Med 1994; 148: 412-415.
-
(1994)
Arch Pediatr Adolesc Med
, vol.148
, pp. 412-415
-
-
Jaber, L.1
Bailey-Wilson, J.E.2
Haj-Yehia, M.3
Hernandez, J.4
Shohat, M.5
-
14
-
-
0030478338
-
CF heterozygote screening in the orthodox community of the Ashkenazi Jews: The 'Dor Yesharim' approach and heterozygote frequency
-
Abeliovich D, Quint A, Weinberg N, Verechozon G, Lerer I, Ekstein J, Rubinstein E: CF heterozygote screening in the orthodox community of the Ashkenazi Jews: the 'Dor Yesharim' approach and heterozygote frequency. Eur J Hum Genet 1996; 4: 338-341.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 338-341
-
-
Abeliovich, D.1
Quint, A.2
Weinberg, N.3
Verechozon, G.4
Lerer, I.5
Ekstein, J.6
Rubinstein, E.7
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