-
1
-
-
0033536288
-
The β-thalassemias
-
Olivieri NF. The β-thalassemias. N Engl J Med 1999 341 : 99 109.
-
(1999)
N Engl J Med
, vol.341
, pp. 99-109
-
-
Olivieri, N.F.1
-
2
-
-
2942579453
-
Molecular diagnosis of heamoglobin disorders
-
Clark BE, Thein SL. Molecular diagnosis of heamoglobin disorders. Clin Lab Haem 2004 26 : 159 76.
-
(2004)
Clin Lab Haem
, vol.26
, pp. 159-76
-
-
Clark, B.E.1
Thein, S.L.2
-
6
-
-
0033865416
-
Gene regulation and deregulation: A beta globin perspective
-
Review.
-
Ho PJ, Thein SL. Gene regulation and deregulation: a beta globin perspective. Blood Rev 2000 14 : 78 93. Review.
-
(2000)
Blood Rev
, vol.14
, pp. 78-93
-
-
Ho, P.J.1
Thein, S.L.2
-
7
-
-
0024284028
-
A simple salting-out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988 16 : 1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
8
-
-
0034161603
-
A single tube multiplex PCR method to detect the common α+ thalassemia alleles
-
Shaji RV, Chandy SM, Krishnamoorthy R. A single tube multiplex PCR method to detect the common α+ thalassemia alleles. Blood 2000 95 : 1879 80.
-
(2000)
Blood
, vol.95
, pp. 1879-80
-
-
Shaji, R.V.1
Chandy, S.M.2
Krishnamoorthy, R.3
-
9
-
-
0027397913
-
Rapid analysis of -α3.7 thalassemia and ααα anti 3.7 triplication by enzymatic amplification analysis
-
Dode C, Krishnamoorthy R, Lam J, Rochette J. Rapid analysis of -α3.7 thalassemia and ααα anti 3.7 triplication by enzymatic amplification analysis. Br J Haematol 1993 83 : 105 11.
-
(1993)
Br J Haematol
, vol.83
, pp. 105-11
-
-
Dode, C.1
Krishnamoorthy, R.2
Lam, J.3
Rochette, J.4
-
10
-
-
0021946139
-
DNA polymorphism and molecular pathology of the human globin gene clusters
-
Antonarakis SE, Kazazian HH, Jr. Orkin SH. DNA polymorphism and molecular pathology of the human globin gene clusters. Hum Genet 1985 69 : 1 14.
-
(1985)
Hum Genet
, vol.69
, pp. 1-14
-
-
Antonarakis, S.E.1
Kazazian Jr., H.H.2
Orkin, S.H.3
-
11
-
-
0024477306
-
A C→T substitution at -101 in a conserved DNA sequence of the promoter region of the β-globin gene is associated with 'silent' β-thalassemia
-
Gonzalez-Redondo JM, Stoming TA, Kutlar A, et al. A C→T substitution at -101 in a conserved DNA sequence of the promoter region of the β-globin gene is associated with 'silent' β-thalassemia. Blood 1989 73 : 1705 11.
-
(1989)
Blood
, vol.73
, pp. 1705-11
-
-
Gonzalez-Redondo, J.M.1
Stoming, T.A.2
Kutlar, A.3
-
12
-
-
0023601968
-
Characterization of β-thalassemia mutations using direct genomic sequencing of amplified single copy DNA
-
Wong C, Dowling CE, Saiki RK, Higuchi RG, Erlich HA, Kazazian HH, Jr. Characterization of β-thalassemia mutations using direct genomic sequencing of amplified single copy DNA. Nature 1987 330 : 384 6.
-
(1987)
Nature
, vol.330
, pp. 384-6
-
-
Wong, C.1
Dowling, C.E.2
Saiki, R.K.3
Higuchi, R.G.4
Erlich, H.A.5
Kazazian Jr., H.H.6
-
13
-
-
0347125141
-
Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies
-
Patrinos GP, Giardine B, Riemer C, Miller W, Chui DH, Anagnou NP, Wajcman H, Hardison RC. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res 2004 32 (Database issue D537 41.
-
(2004)
Nucleic Acids Res
, vol.32
-
-
Patrinos, G.P.1
Giardine, B.2
Riemer, C.3
Miller, W.4
Chui, D.H.5
Anagnou, N.P.6
Wajcman, H.7
Hardison, R.C.8
-
14
-
-
0023890682
-
An erythroid specific nuclear factor binding the proximal CACCC box of the β-globin gene promoter
-
Mantovani R, Malgaretti N, Nicolis S, Giglioni B, Comi P, Cappellini N, Bertero MT, Caligaris-Cappio F, Ottolenghi S. An erythroid specific nuclear factor binding the proximal CACCC box of the β-globin gene promoter. Nucleic Acids Res 1988 16 : 4299 313.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 4299-313
-
-
Mantovani, R.1
Malgaretti, N.2
Nicolis, S.3
Giglioni, B.4
Comi, P.5
Cappellini, N.6
Bertero, M.T.7
Caligaris-Cappio, F.8
Ottolenghi, S.9
-
15
-
-
0027229345
-
β-Thalassaemia
-
In: Higgs, D.R., Weatherall, D.J., eds. N 1. London: W.B. Saunders Company
-
Thein SL. β-Thalassaemia. In : Higgs DR, Weatherall DJ, eds. The Haemoglobinopathies. Baillière's Clinical Haematology. Vol. 6, N 1. London : W.B. Saunders Company, 1993 : 154 8.
-
(1993)
The Haemoglobinopathies. Baillière's Clinical Haematology.
, vol.6
, pp. 154-8
-
-
Thein, S.L.1
-
16
-
-
0024368590
-
DNA sequences regulating human globin gene transcription in nondeletional hereditary persistence of fetal hemoglobin
-
Ottolenghi S, Mantovani R, Nicolis S, Ronchi A, Giglioni B. DNA sequences regulating human globin gene transcription in nondeletional hereditary persistence of fetal hemoglobin. Hemoglobin 1989 13 : 523 41.
-
(1989)
Hemoglobin
, vol.13
, pp. 523-41
-
-
Ottolenghi, S.1
Mantovani, R.2
Nicolis, S.3
Ronchi, A.4
Giglioni, B.5
-
17
-
-
0026643123
-
Identification of a stage selector element in the human gamma-globin gene promoter that fosters preferential interaction with the 5′ HS2 enhancer when in competition with the beta-promoter
-
Jane SM, Ney PA, Vanin EF, Gumucio DL, Nienhuis AW. Identification of a stage selector element in the human gamma-globin gene promoter that fosters preferential interaction with the 5′ HS2 enhancer when in competition with the beta-promoter. EMBO J 1992 11 : 2961 9.
-
(1992)
EMBO J
, vol.11
, pp. 2961-9
-
-
Jane, S.M.1
Ney, P.A.2
Vanin, E.F.3
Gumucio, D.L.4
Nienhuis, A.W.5
-
18
-
-
0028804404
-
Hemoglobin switching in man and chicken is mediated by a heteromeric complex between the ubiquitous transcription factor CP2 and a developmentally specific protein
-
Jane SM, Nienhuis AW, Cunningham JM. Hemoglobin switching in man and chicken is mediated by a heteromeric complex between the ubiquitous transcription factor CP2 and a developmentally specific protein. EMBO J 1995 14 : 97 105.
-
(1995)
EMBO J
, vol.14
, pp. 97-105
-
-
Jane, S.M.1
Nienhuis, A.W.2
Cunningham, J.M.3
-
19
-
-
0033805833
-
Induction of human fetal globin gene expression by a novel erythroid factor, NF-E4
-
Zhou W, Clouston DR, Wang X, Cerruti L, Cunningham JM, Jane SM. Induction of human fetal globin gene expression by a novel erythroid factor, NF-E4. Mol Cell Biol 2000 20 : 7662 72.
-
(2000)
Mol Cell Biol
, vol.20
, pp. 7662-72
-
-
Zhou, W.1
Clouston, D.R.2
Wang, X.3
Cerruti, L.4
Cunningham, J.M.5
Jane, S.M.6
-
20
-
-
0035903657
-
The role of the -50 region of the human gamma-globin gene in switching
-
Ristaldi MS, Drabek D, Gribnau J, Poddie D, Yannoutsous N, Cao A, Grosveld F, Imam AM. The role of the -50 region of the human gamma-globin gene in switching. EMBO J 2001 20 : 5242 9.
-
(2001)
EMBO J
, vol.20
, pp. 5242-9
-
-
Ristaldi, M.S.1
Drabek, D.2
Gribnau, J.3
Poddie, D.4
Yannoutsous, N.5
Cao, A.6
Grosveld, F.7
Imam, A.M.8
-
21
-
-
0021367310
-
Specific factor conferring nuclease hypersensitivity at the 5′ end of the chicken adult beta-globin gene
-
Emerson BM, Felsenfeld G. Specific factor conferring nuclease hypersensitivity at the 5′ end of the chicken adult beta-globin gene. Proc Natl Acad Sci USA 1984 81 : 95 9.
-
(1984)
Proc Natl Acad Sci USA
, vol.81
, pp. 95-9
-
-
Emerson, B.M.1
Felsenfeld, G.2
-
22
-
-
0021071029
-
Cell-specific expression controlled by the 5′-flanking region of insulin and chymotrypsin genes
-
Walker MD, Edlund T, Boulet AM, Rutter WJ. Cell-specific expression controlled by the 5′-flanking region of insulin and chymotrypsin genes. Nature 1983 306 : 557 61.
-
(1983)
Nature
, vol.306
, pp. 557-61
-
-
Walker, M.D.1
Edlund, T.2
Boulet, A.M.3
Rutter, W.J.4
-
23
-
-
0024293496
-
The human β-globin promoter; Nuclear protein factors and erythroid specific induction of transcription
-
deBoer E, Antoniou M, Mignotte V, Wall L, Grosveld F. The human β-globin promoter; nuclear protein factors and erythroid specific induction of transcription. The EMBO J 1988 7 : 4203 12.
-
(1988)
The EMBO J
, vol.7
, pp. 4203-12
-
-
Deboer, E.1
Antoniou, M.2
Mignotte, V.3
Wall, L.4
Grosveld, F.5
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