-
1
-
-
0027416308
-
Cystic fibrosis in Spain: High frequency of mutation G542X in the Mediterranean coastal area
-
Casals T, Nunes V, Palacio A, Giménez J, Gaona A, Ibáñez N, Morral N, Estivill X (1993): Cystic fibrosis in Spain: High frequency of mutation G542X in the Mediterranean coastal area. Hum Genet 91:66-70.
-
(1993)
Hum Genet
, vol.91
, pp. 66-70
-
-
Casals, T.1
Nunes, V.2
Palacio, A.3
Giménez, J.4
Gaona, A.5
Ibáñez, N.6
Morral, N.7
Estivill, X.8
-
2
-
-
0026566043
-
Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: A technology for carrier screening
-
Chehab FF, 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
-
3
-
-
0025043871
-
Distribution of the ΔF508 mutation in 194 Spanish cystic fibrosis families
-
Chillón M, Nunes V, Casals T, Giménez FJ, Fernández E, Benítez J, Estivill X (1990): Distribution of the ΔF508 mutation in 194 Spanish cystic fibrosis families. Hum Genet 85:396-397.
-
(1990)
Hum Genet
, vol.85
, pp. 396-397
-
-
Chillón, M.1
Nunes, V.2
Casals, T.3
Giménez, F.J.4
Fernández, E.5
Benítez, J.6
Estivill, X.7
-
4
-
-
0028033069
-
Population variation of common cystic fibrosis mutations
-
Cystic Fibrosis Genetic Analysis Consortium (1994): Population variation of common cystic fibrosis mutations. Hum Mutat 4:167-177.
-
(1994)
Hum Mutat
, vol.4
, pp. 167-177
-
-
-
5
-
-
0028175683
-
Genetic analysis of Hispanic individuals with cystic fibrosis
-
Grebe TA, Seltzer WK, De Marchi J, Silva DK, Doane WW, Gozal D, Richter SF, Bowman MC, Norman RA, Rhodes SN, Hernried LS, Murphy S, Harwood I, Accurso FJ, Jain KD (1994): Genetic analysis of Hispanic individuals with cystic fibrosis. Am J Hum Genet 54:443-446.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 443-446
-
-
Grebe, T.A.1
Seltzer, W.K.2
De Marchi, J.3
Silva, D.K.4
Doane, W.W.5
Gozal, D.6
Richter, S.F.7
Bowman, M.C.8
Norman, R.A.9
Rhodes, S.N.10
Hernried, L.S.11
Murphy, S.12
Harwood, I.13
Accurso, F.J.14
Jain, K.D.15
-
6
-
-
0026713048
-
Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis
-
Handyside AH, Winston RM (1992): Birth of a normal girl after in vitro fertilization and preimplantation diagnostic 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
Winston, R.M.2
-
8
-
-
0026019534
-
Severity of cystic fibrosis in patients homozygous and heterozygous for ΔF508 mutation
-
Johansen HK, Nir M, Høiby N, Koch C, Schwartz M (1991): Severity of cystic fibrosis in patients homozygous and heterozygous for ΔF508 mutation. Lancet 337:631-634.
-
(1991)
Lancet
, vol.337
, pp. 631-634
-
-
Johansen, H.K.1
Nir, M.2
Høiby, N.3
Koch, C.4
Schwartz, M.5
-
9
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem B, 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.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
-
10
-
-
0025241696
-
The relation between genotype and phenotype in cystic fibrosis: Analysis of the most common mutation (ΔF508)
-
Kerem E, Corey M, Kerem B, Rommens J, Markiewicz D, Levinson H, Tsui L-C, Durie P (1990): The relation between genotype and phenotype in cystic fibrosis: Analysis of the most common mutation (ΔF508). N Engl J Med 323:1517-1522.
-
(1990)
N Engl J Med
, vol.323
, pp. 1517-1522
-
-
Kerem, E.1
Corey, M.2
Kerem, B.3
Rommens, J.4
Markiewicz, D.5
Levinson, H.6
Tsui, L.-C.7
Durie, P.8
-
11
-
-
0026734588
-
Genetic determination of exocrine pancreatic function in cystic fibrosis
-
Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui L-C, Durie P (1992): Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet 50:1178-1184.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1178-1184
-
-
Kristidis, P.1
Bozon, D.2
Corey, M.3
Markiewicz, D.4
Rommens, J.5
Tsui, L.-C.6
Durie, P.7
-
12
-
-
0026004723
-
Analysis of 14 cystic fibrosis mutations in five South European populations
-
Nunes V, Gasparini P, Novelli G, Gaona A, Bonizzato A, Sangiuolo F, Balassopoulou A, Giménez FJ, Dognini M, Ravnik-Glavac M, Cikuli M, Mokini V, Komel R, Dallapiccola B, Pignatti PF, Loukopoulos D, Casals T, Estivill X (1991): Analysis of 14 cystic fibrosis mutations in five South European populations. Hum Genet 87:737-738.
-
(1991)
Hum Genet
, vol.87
, pp. 737-738
-
-
Nunes, V.1
Gasparini, P.2
Novelli, G.3
Gaona, A.4
Bonizzato, A.5
Sangiuolo, F.6
Balassopoulou, A.7
Giménez, F.J.8
Dognini, M.9
Ravnik-Glavac, M.10
Cikuli, M.11
Mokini, V.12
Komel, R.13
Dallapiccola, B.14
Pignatti, P.F.15
Loukopoulos, D.16
Casals, T.17
Estivill, X.18
-
13
-
-
0027156775
-
Frequency of ΔF508 in a Mexican sample of cystic fibrosis patients
-
Orozco L, Salcedo M, Lezana JL, Chavez M, Valdez H, Moreno M, Carnevale A (1993): Frequency of ΔF508 in a Mexican sample of cystic fibrosis patients. J Med Genet 30:501-502.
-
(1993)
J Med Genet
, vol.30
, pp. 501-502
-
-
Orozco, L.1
Salcedo, M.2
Lezana, J.L.3
Chavez, M.4
Valdez, H.5
Moreno, M.6
Carnevale, A.7
-
14
-
-
0025827218
-
The ΔF508 mutation and RFLP-linked loci in Spanish cystic fibrosis families
-
Peral B, Hernández-Chico C, San Millan JL, Granell R, Malano J, Carrasco S, Tellería JJ, Devoto M, Moreno F (1991): The ΔF508 mutation and RFLP-linked loci in Spanish cystic fibrosis families. Hum Genet 87: 516-517.
-
(1991)
Hum Genet
, vol.87
, pp. 516-517
-
-
Peral, B.1
Hernández-Chico, C.2
San Millan, J.L.3
Granell, R.4
Malano, J.5
Carrasco, S.6
Tellería, J.J.7
Devoto, M.8
Moreno, F.9
-
15
-
-
0026871550
-
Genética molecular de la fibrosis quística: El alelo ΔF508 en familias mexicanas
-
Rojas A, Vázquez RM, Gustincich S, Cantú JM, Barrera HA (1992): Genética molecular de la fibrosis quística: El alelo ΔF508 en familias mexicanas. Bol Med Hosp Infant Mex 49:335-341.
-
(1992)
Bol Med Hosp Infant Mex
, vol.49
, pp. 335-341
-
-
Rojas, A.1
Vázquez, R.M.2
Gustincich, S.3
Cantú, J.M.4
Barrera, H.A.5
-
16
-
-
0025068849
-
Rapid nonradioactive detection of the major cystic fibrosis mutation
-
Rommens JM, Kerem B, Greer W, Chang P, Tsui L-C, Ray P (1990): Rapid nonradioactive detection of the major cystic fibrosis mutation. Am J Hum Genet 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
-
17
-
-
0001442557
-
Genetic analysis of amplified DNA with inmobilized sequence-specific oligonucleotide probes
-
Saiki RK, Walsh PS, Levenson CH, Erlich HA (1989): Genetic analysis of amplified DNA with inmobilized sequence-specific oligonucleotide probes. Proc Natl Acad Sci USA 86:6230-6234.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 6230-6234
-
-
Saiki, R.K.1
Walsh, P.S.2
Levenson, C.H.3
Erlich, H.A.4
-
18
-
-
0027479447
-
A new mutation in the cystic fibrosis gene, comprised of two adjacent DNA alterations, is common among Georgian Jews
-
Shoshani T, Berkun Y, Yahav Y, Augarten A, Bashan N, Rivlin Y, Gazit E, Seret H, Kerem E, Kerem B (1992): A new mutation in the cystic fibrosis gene, comprised of two adjacent DNA alterations, is common among Georgian Jews. Genomics 15:236-237.
-
(1992)
Genomics
, vol.15
, pp. 236-237
-
-
Shoshani, T.1
Berkun, Y.2
Yahav, Y.3
Augarten, A.4
Bashan, N.5
Rivlin, Y.6
Gazit, E.7
Seret, H.8
Kerem, E.9
Kerem, B.10
-
19
-
-
0027411121
-
Efficient 12-mutation testing in the CFTR gene: A general model for complex mutation analysis
-
Shuber AP, Skoletsky J, Stern R, Handelin BL (1993): Efficient 12-mutation testing in the CFTR gene: A general model for complex mutation analysis. Hum Mol Genet 2:153-158.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 153-158
-
-
Shuber, A.P.1
Skoletsky, J.2
Stern, R.3
Handelin, B.L.4
-
20
-
-
0000026508
-
Cystic fibrosis
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds): New York: McGraw-Hill
-
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 ed. New York: McGraw-Hill, pp 3799-3876.
-
(1995)
"The Metabolic and Molecular Bases of Inherited Disease," 7th Ed.
, pp. 3799-3876
-
-
Welsh, M.J.1
Tsui, L.-C.2
Boat, T.F.3
Beaudet, A.L.4
|