-
1
-
-
0031155962
-
Prenatal diagnosis of the thalassemia syndromes by rapid DNA analytical methods
-
Kanavakis E, Traeger-Synodinos J, Vrettou C, Maragoudaki E, Tzetis M, Kattamis C. Prenatal diagnosis of the thalassemia syndromes byrapid DNA analytical methods. Mol Hum Reprod 1997;3:523-8.
-
(1997)
Mol Hum Reprod
, vol.3
, pp. 523-528
-
-
Kanavakis, E.1
Traeger-Synodinos, J.2
Vrettou, C.3
Maragoudaki, E.4
Tzetis, M.5
Kattamis, C.6
-
2
-
-
0034496216
-
Biallelic discrimination assays for the three common Ashkenazi Jewish mutations and a common non-Jewish mutation, in Tay-Sachs disease, using TaqMan probes
-
Ward CP, Fensom AH, Green PM. Biallelic discrimination assays for the three common Ashkenazi Jewish mutations and a common non-Jewish mutation, in Tay-Sachs disease, using TaqMan probes. Genet Test 2000;4:351-8.
-
(2000)
Genet Test
, vol.4
, pp. 351-358
-
-
Ward, C.P.1
Fensom, A.H.2
Green, P.M.3
-
3
-
-
0036157889
-
Apolipoprotein E genotyping: A comparative study between restriction endonuclease mapping and allelic discrimination with the LightCycler
-
Ballerini S, Bellincampi L, Bernardini S, Casciani S, Motti C, Cortese C, et al. Apolipoprotein E genotyping: a comparative study between restriction endonuclease mapping and allelic discrimination with the LightCycler. Clin Chim Acta 2002;317:71-6.
-
(2002)
Clin Chim Acta
, vol.317
, pp. 71-76
-
-
Ballerini, S.1
Bellincampi, L.2
Bernardini, S.3
Casciani, S.4
Motti, C.5
Cortese, C.6
-
4
-
-
0034118889
-
Rapid β-globin genotyping by multiplexing probe melting temperature and color
-
Herrmann MG, Dobrowolski SF, Wittwer CT. Rapid β-globin genotyping by multiplexing probe melting temperature and color. Clin Chem 2000;46:425-8.
-
(2000)
Clin Chem
, vol.46
, pp. 425-428
-
-
Herrmann, M.G.1
Dobrowolski, S.F.2
Wittwer, C.T.3
-
5
-
-
0002452658
-
DNA based diagnosis of the hemoglobin disorders
-
Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Cambridge: Cambridge University Press
-
Old JM. DNA based diagnosis of the hemoglobin disorders. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of hemoglobin: genetics, pathophysiology and clinical management. Cambridge: Cambridge University Press, 2001:941-57.
-
(2001)
Disorders of Hemoglobin: Genetics, Pathophysiology and Clinical Management
, pp. 941-957
-
-
Old, J.M.1
-
6
-
-
0013198577
-
Prenatal diagnosis and screening for thalassemia and sickle cell disease
-
Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Cambridge: Cambridge University Press
-
Cao A, Rosatelii MC, Eckman JR. Prenatal diagnosis and screening for thalassemia and sickle cell disease. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of hemoglobin: genetics, pathophysiology and clinical management. Cambridge: Cambridge University Press, 2001:958-78.
-
(2001)
Disorders of Hemoglobin: Genetics, Pathophysiology and Clinical Management
, pp. 958-978
-
-
Cao, A.1
Rosatelli, M.C.2
Eckman, J.R.3
-
7
-
-
0025220340
-
Molecular characterization of β-thalassemia in 174 Greek patients with thalassemia major
-
Kattamis C, Hu H, Cheng G, Reese AL, Gonzalez-Redondo JM, Kutlar A, et al. Molecular characterization of β-thalassemia in 174 Greek patients with thalassemia major. Br J Haematol 1990;74:342-6.
-
(1990)
Br J Haematol
, vol.74
, pp. 342-346
-
-
Kattamis, C.1
Hu, H.2
Cheng, G.3
Reese, A.L.4
Gonzalez-Redondo, J.M.5
Kutlar, A.6
-
8
-
-
0031885171
-
Rare β-thalassemia mutations in the Greek and Greek Cypriot populations
-
Traeger-Synodinos J, Maragoudaki E, Vrettou C, Kanavakis E, Kattamis C. Rare β-thalassemia mutations in the Greek and Greek Cypriot populations. Hemoglobin 1998;22:89-94.
-
(1998)
Hemoglobin
, vol.22
, pp. 89-94
-
-
Traeger-Synodinos, J.1
Maragoudaki, E.2
Vrettou, C.3
Kanavakis, E.4
Kattamis, C.5
-
9
-
-
0025090944
-
Rapid detection and prenatal diagnosis of β-thalassaemia: Studies in Indian and Cypriot populations in the UK
-
Old JM, Varawalla NY, Weatherall DJ. Rapid detection and prenatal diagnosis of β-thalassaemia: studies in Indian and Cypriot populations in the UK. Lancet 1990;33:834-7.
-
(1990)
Lancet
, vol.33
, pp. 834-837
-
-
Old, J.M.1
Varawalla, N.Y.2
Weatherall, D.J.3
-
11
-
-
0036190154
-
Hb Var: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
-
Hardison RC, Chui DH, Giardine B, Riemer C, Patrinos G, Anagnou N, et al. Hb Var: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat 2002;19:225-33.
-
(2002)
Hum Mutat
, vol.19
, pp. 225-233
-
-
Hardison, R.C.1
Chui, D.H.2
Giardine, B.3
Riemer, C.4
Patrinos, G.5
Anagnou, N.6
-
12
-
-
33749208030
-
Global cDNA amplification combined with real-time RT-PCR: Accurate quantification of multiple human potassium channel genes at the single cell level
-
Al-Taher A, Bashein A, Nolan T, Hollingsworth M, Brady G. Global cDNA amplification combined with real-time RT-PCR: accurate quantification of multiple human potassium channel genes at the single cell level. Yeast 2000;17:201-10.
-
(2000)
Yeast
, vol.17
, pp. 201-210
-
-
Al-Taher, A.1
Bashein, A.2
Nolan, T.3
Hollingsworth, M.4
Brady, G.5
-
13
-
-
0033775619
-
Rapid single-tube screening of the C282Y hemochromatosis mutation by real-time multiplex allele-specific PCR without fluorescent probes
-
Donohoe GG, Laaksonen M, Pulkki K, Ronnemaa T, Kairisto V. Rapid single-tube screening of the C282Y hemochromatosis mutation by real-time multiplex allele-specific PCR without fluorescent probes. Clin Chem 2000;46:1540-7.
-
(2000)
Clin Chem
, vol.46
, pp. 1540-1547
-
-
Donohoe, G.G.1
Laaksonen, M.2
Pulkki, K.3
Ronnemaa, T.4
Kairisto, V.5
-
14
-
-
0033762202
-
Genotyping of eight thiopurine methyltransferase mutations: Three-color multiplexing, "two-color/shared" anchor, and fluorescence-quenching hybridization probe assays based on thermodynamic nearest-neighbor probe design
-
Schutz E, von Ahsen N, Oellerich M. Genotyping of eight thiopurine methyltransferase mutations: three-color multiplexing, "two-color/shared" anchor, and fluorescence-quenching hybridization probe assays based on thermodynamic nearest-neighbor probe design. Clin Chem 2000;46:1728-37.
-
(2000)
Clin Chem
, vol.46
, pp. 1728-1737
-
-
Schutz, E.1
Von Ahsen, N.2
Oellerich, M.3
-
15
-
-
0036154959
-
Quantitative analysis of SMN1 and SMN2 based on real-time LightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
-
Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. Quantitative analysis of SMN1 and SMN2 based on real-time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002;70:358-68.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 358-368
-
-
Feldkotter, M.1
Schwarzer, V.2
Wirth, R.3
Wienker, T.F.4
Wirth, B.5
-
16
-
-
0030058529
-
Current status of thalassemia and sickle cell syndromes in Greece
-
Loukopoulos D. Current status of thalassemia and sickle cell syndromes in Greece. Semin Hematol 1996;33:76-86.
-
(1996)
Semin Hematol
, vol.33
, pp. 76-86
-
-
Loukopoulos, D.1
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