-
1
-
-
0031911874
-
Detection of p53 point mutations by single strand conformation polymorphism (SSCP): Analysis by capillary electrophoresis
-
Atha DA, Wenz HM, Morehead H, Tian J, O'Connell C (1998) Detection of p53 point mutations by single strand conformation polymorphism (SSCP): analysis by capillary electrophoresis. Electrophoresis 19:172-179
-
(1998)
Electrophoresis
, vol.19
, pp. 172-179
-
-
Atha, D.A.1
Wenz, H.M.2
Morehead, H.3
Tian, J.4
O'Connell, C.5
-
2
-
-
0030221927
-
Mutation analysis in hereditary hemochromatosis
-
Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R, Pockros P, Kosty M, Venditti CP, Phatak PD, Seese NK, Chorney KA, Ten Elshof AE, Gerhard G, Chorney M (1996) Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 22:187-194
-
(1996)
Blood Cells Mol Dis
, vol.22
, pp. 187-194
-
-
Beutler, E.1
Gelbart, T.2
West, C.3
Lee, P.4
Adams, M.5
Blackstone, R.6
Pockros, P.7
Kosty, M.8
Venditti, C.P.9
Phatak, P.D.10
Seese, N.K.11
Chorney, K.A.12
Ten Elshof, A.E.13
Gerhard, G.14
Chorney, M.15
-
3
-
-
0031059049
-
Genetic diagnosis of factor V Leiden using heteroduplex technology
-
Bowen DJ, Standen GR, Granville S, Bowley S, Wood NAP, Bidwell J (1997) Genetic diagnosis of factor V Leiden using heteroduplex technology. Thromb Haemost 77:119-122
-
(1997)
Thromb Haemost
, vol.77
, pp. 119-122
-
-
Bowen, D.J.1
Standen, G.R.2
Granville, S.3
Bowley, S.4
Wood, N.A.P.5
Bidwell, J.6
-
4
-
-
0030885877
-
Fluorescence energy transfer detection as a homogeneous DNA diagnostic method
-
Chen X, Zehnbauer B, Gnirke A, Kwok PY (1997) Fluorescence energy transfer detection as a homogeneous DNA diagnostic method. Proc Natl Acad Sci USA 94:10756-10761
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 10756-10761
-
-
Chen, X.1
Zehnbauer, B.2
Gnirke, A.3
Kwok, P.Y.4
-
5
-
-
0027319493
-
Screening for hemochromatosis
-
Edwards CQ (1993) Screening for hemochromatosis. N Engl J Med 328:1616-1620
-
(1993)
N Engl J Med
, vol.328
, pp. 1616-1620
-
-
Edwards, C.Q.1
-
6
-
-
9344224529
-
A novel MHC class 1-like gene is mutated in patients with hereditary haemochromatosis
-
Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK (1996) A novel MHC class 1-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13:399-408
-
(1996)
Nat Genet
, vol.13
, pp. 399-408
-
-
Feder, J.N.1
Gnirke, A.2
Thomas, W.3
Tsuchihashi, Z.4
Ruddy, D.A.5
Basava, A.6
Dormishian, F.7
Domingo R., Jr.8
Ellis, M.C.9
Fullan, A.10
Hinton, L.M.11
Jones, N.L.12
Kimmel, B.E.13
Kronmal, G.S.14
Lauer, P.15
Lee, V.K.16
Loeb, D.B.17
Mapa, F.A.18
McClelland, E.19
Meyer, N.C.20
Mintier, G.A.21
Moeller, N.22
Moore, T.23
Morikang, E.24
Prass, C.E.25
Quintana, L.26
Starnes, S.M.27
Schatzman, R.C.28
Brunke, K.J.29
Drayna, D.T.30
Risch, N.J.31
Bacon, B.R.32
Wolff, R.K.33
more..
-
8
-
-
44049116183
-
PCR-SSCP: A method for detection of mutations
-
Hayashi K (1992) PCR-SSCP: a method for detection of mutations. Genet Anal Tech Appl 9:73-79
-
(1992)
Genet Anal Tech Appl
, vol.9
, pp. 73-79
-
-
Hayashi, K.1
-
9
-
-
0029075930
-
Single strand conformational polymorphism using capillary electrophoresis with two dye laser-induced fluorescence detection
-
Hebenbrock K, Williams PM, Karger BL (1995) Single strand conformational polymorphism using capillary electrophoresis with two dye laser-induced fluorescence detection. Electrophoresis 16:1429-1436
-
(1995)
Electrophoresis
, vol.16
, pp. 1429-1436
-
-
Hebenbrock, K.1
Williams, P.M.2
Karger, B.L.3
-
10
-
-
0031951431
-
Rapid diagnosis of hemochromatosis gene Cys282Tyr mutation by SSCP analysis
-
Hertzberg MS, McDonald D, Mirochnik O (1998) Rapid diagnosis of hemochromatosis gene Cys282Tyr mutation by SSCP analysis. Am J Hematol 57:260-261
-
(1998)
Am J Hematol
, vol.57
, pp. 260-261
-
-
Hertzberg, M.S.1
McDonald, D.2
Mirochnik, O.3
-
11
-
-
0031263204
-
A stream-lined mutation detection system: Multi-color post-PCR fluorescence labeling and SSCP analysis by capillary electrophoresis
-
Inazuka M, Wenz HM, Sakabe M, Tahira T, Hayashi K (1997) A stream-lined mutation detection system: multi-color post-PCR fluorescence labeling and SSCP analysis by capillary electrophoresis. Genome Res 7:1094-1103
-
(1997)
Genome Res
, vol.7
, pp. 1094-1103
-
-
Inazuka, M.1
Wenz, H.M.2
Sakabe, M.3
Tahira, T.4
Hayashi, K.5
-
12
-
-
0030798387
-
Rapid genetic screening for haemochromatosis using heteroduplex technology
-
Jackson HA, Bowen DJ, Worwood M (1997) Rapid genetic screening for haemochromatosis using heteroduplex technology. Br J Haematol 98:856-859
-
(1997)
Br J Haematol
, vol.98
, pp. 856-859
-
-
Jackson, H.A.1
Bowen, D.J.2
Worwood, M.3
-
14
-
-
0032055531
-
Hemochromatosis-related mutation detection
-
Merryweather-Clarke AT, Shearman JD, Robson KJH, Pointon JJ, Liu YT, Bomford A, Dooley J, Walker AP, Worwood M (1998) Hemochromatosis-related mutation detection. Blood (letter) 91:2620-2621
-
(1998)
Blood (Letter)
, vol.91
, pp. 2620-2621
-
-
Merryweather-Clarke, A.T.1
Shearman, J.D.2
Robson, K.J.H.3
Pointon, J.J.4
Liu, Y.T.5
Bomford, A.6
Dooley, J.7
Walker, A.P.8
Worwood, M.9
-
15
-
-
0029913626
-
Long-term survival in patients with hereditary hemochromatosis
-
Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G (1996) Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 110:1107-1119
-
(1996)
Gastroenterology
, vol.110
, pp. 1107-1119
-
-
Niederau, C.1
Fischer, R.2
Purschel, A.3
Stremmel, W.4
Haussinger, D.5
Strohmeyer, G.6
-
16
-
-
0024595101
-
Detection of polymorphisms of human DNA by gel electrophoresis as a single-strand conformation polymorphism
-
Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as a single-strand conformation polymorphism. Proc Natl Acad Sci USA 86:2766-2770
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 2766-2770
-
-
Orita, M.1
Iwahana, H.2
Kanazawa, H.3
Hayashi, K.4
Sekiya, T.5
-
17
-
-
0031450438
-
Haemochromatosis, HFE and genetic complexity
-
Risch N (1997) Haemochromatosis, HFE and genetic complexity. Nat Genet 17:375-376
-
(1997)
Nat Genet
, vol.17
, pp. 375-376
-
-
Risch, N.1
-
18
-
-
0030713023
-
A PCR-SSP method for detecting the Cys282Tyr mutation in the HFE gene associated with hereditary haemochromatosis
-
Smillie D (1997) A PCR-SSP method for detecting the Cys282Tyr mutation in the HFE gene associated with hereditary haemochromatosis. Mol Pathol 50:275-276
-
(1997)
Mol Pathol
, vol.50
, pp. 275-276
-
-
Smillie, D.1
-
19
-
-
0030865131
-
Efficient large-scale screening for the hemochromatosis susceptibility gene mutation
-
Takeuchi T, Soejima H, Faed JMA, Yun K (1997) Efficient large-scale screening for the hemochromatosis susceptibility gene mutation. Blood 90:2848-2849
-
(1997)
Blood
, vol.90
, pp. 2848-2849
-
-
Takeuchi, T.1
Soejima, H.2
Faed, J.M.A.3
Yun, K.4
-
20
-
-
0032079196
-
Identification of known p53 point mutations by capillary electrophoresis using unique mobility profiles in a blinded study
-
Wenz MH, Ramachandra S, O'Connell C, Atha DA (1998) Identification of known p53 point mutations by capillary electrophoresis using unique mobility profiles in a blinded study. Mutat Res Genomics 17:121-132
-
(1998)
Mutat Res Genomics
, vol.17
, pp. 121-132
-
-
Wenz, M.H.1
Ramachandra, S.2
O'Connell, C.3
Atha, D.A.4
-
21
-
-
0028587946
-
Genetics of haemochromatosis
-
Worwood M (1994) Genetics of haemochromatosis. Baillieres Clin Haematol 7:903-918
-
(1994)
Baillieres Clin Haematol
, vol.7
, pp. 903-918
-
-
Worwood, M.1
-
22
-
-
0005600868
-
A simple genetic test identifies 90% of UK patients with haemochromatosis
-
Worwood M, Shearman JD, Wallace DS, Dooley J, Merryweather-Clarke AT, Pointon JJ, Rosenberg WMC, Bowen DJ, Burnett AK, Jackson HA, Lawless S, Raha-Chourdhury R, Partridge J, Williams R, Bomford A, Walker AP, Robson KJH (1997) A simple genetic test identifies 90% of UK patients with haemochromatosis. Gut 41:841-844
-
(1997)
Gut
, vol.41
, pp. 841-844
-
-
Worwood, M.1
Shearman, J.D.2
Wallace, D.S.3
Dooley, J.4
Merryweather-Clarke, A.T.5
Pointon, J.J.6
Rosenberg, W.M.C.7
Bowen, D.J.8
Burnett, A.K.9
Jackson, H.A.10
Lawless, S.11
Raha-Chourdhury, R.12
Partridge, J.13
Williams, R.14
Bomford, A.15
Walker, A.P.16
Robson, K.J.H.17
|