-
2
-
-
0029294082
-
The β- and δ-Thalassemia Repository
-
eighth edition.
-
Baysal E, Carver M: The β- and δ-Thalassemia Repository (eighth edition). Hemoglobin 19:213, 1995
-
(1995)
Hemoglobin
, vol.19
, pp. 213
-
-
Baysal, E.1
Carver, M.2
-
3
-
-
0027229345
-
β-thalassaemia
-
Higgs DR and Weatherall DJ (eds): London, UK, Baillière Tindall
-
Thein SL: β-thalassaemia, in Higgs DR and Weatherall DJ (eds): Baillière's Clinical Haematology, International Practice and Research: The Haemoglobinopathies, 6:1. London, UK, Baillière Tindall, 1993, p 151
-
(1993)
Baillière's Clinical Haematology, International Practice and Research: The Haemoglobinopathies
, vol.6
, Issue.1
, pp. 151
-
-
Thein, S.L.1
-
4
-
-
0024477306
-
A C → T substitution at nt -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, Kutlar F, Lanclos KD, Howard EF, Fei YJ, Aksoy M, Altay C, Gurgey A, Basak AN, Efremov GD, Petkov G, Huisman THJ: A C → T substitution at nt -101 in a conserved DNA sequence of the promoter region of the β-globin gene is associated with 'silent' β-thalassemia. Blood 73:1705, 1989
-
(1989)
Blood
, vol.73
, pp. 1705
-
-
Gonzalez-Redondo, J.M.1
Stoming, T.A.2
Kutlar, A.3
Kutlar, F.4
Lanclos, K.D.5
Howard, E.F.6
Fei, Y.J.7
Aksoy, M.8
Altay, C.9
Gurgey, A.10
Basak, A.N.11
Efremov, G.D.12
Petkov, G.13
Huisman, T.H.J.14
-
5
-
-
0025921733
-
The G → A mutation at position +22 3′ to the Cap site of the β-globin gene as a possible cause for a β-thalassemia
-
Öner R, Agarwal S, Dimovski AJ, Efremov GD, Petkov GH, Altay Ç, Gürgey A, Huisman THJ: The G → A mutation at position +22 3′ to the Cap site of the β-globin gene as a possible cause for a β-thalassemia. Hemoglobin 15:67, 1991
-
(1991)
Hemoglobin
, vol.15
, pp. 67
-
-
Öner, R.1
Agarwal, S.2
Dimovski, A.J.3
Efremov, G.D.4
Petkov, G.H.5
Altay, Ç.6
Gürgey, A.7
Huisman, T.H.J.8
-
6
-
-
0028172740
-
A novel β-thalassaemia mutation in the 5′ untranslated region of the β-globin gene
-
Athanassiadou A, Papachatzopoulou A, Zoumbos N, Maniatis GM, Gibbs R: A novel β-thalassaemia mutation in the 5′ untranslated region of the β-globin gene. Br J Haematol 88:307, 1994
-
(1994)
Br J Haematol
, vol.88
, pp. 307
-
-
Athanassiadou, A.1
Papachatzopoulou, A.2
Zoumbos, N.3
Maniatis, G.M.4
Gibbs, R.5
-
7
-
-
0025817379
-
A novel β-thalassaemia mutation: Deletion of 4 bp (-AAAC) in the 5′ transcriptional sequence
-
Huang S-Z, Xu Y-H, Zeng F-Y, Wu D-F, Ren Z-R, Zeng Y-T: A novel β-thalassaemia mutation: Deletion of 4 bp (-AAAC) in the 5′ transcriptional sequence. Br J Haematol 78:125, 1991
-
(1991)
Br J Haematol
, vol.78
, pp. 125
-
-
Huang, S.-Z.1
Xu, Y.-H.2
Zeng, F.-Y.3
Wu, D.-F.4
Ren, Z.-R.5
Zeng, Y.-T.6
-
8
-
-
0014404927
-
Separation of the alpha and beta chains of human haemoglobin
-
Clegg JB, Naughton MA, Weatherall DJ: Separation of the alpha and beta chains of human haemoglobin. Nature 219:69, 1968
-
(1968)
Nature
, vol.219
, pp. 69
-
-
Clegg, J.B.1
Naughton, M.A.2
Weatherall, D.J.3
-
9
-
-
0004136246
-
-
Cold Spring Harbor, NY, Cold Spring Harbor Laboratory
-
Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning: A Laboratory Manual. Cold Spring Harbor, NY, Cold Spring Harbor Laboratory, 1989
-
(1989)
Molecular Cloning: A Laboratory Manual
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
10
-
-
0020059153
-
Non-random association of polymorphic restriction sites in the β-globin gene cluster
-
Antonarakis SE, Boehm CD, Giardinia PJV, Kazazian HHJ. Non-random association of polymorphic restriction sites in the β-globin gene cluster. Proc Natl Acad Sci USA 79:137, 1982
-
(1982)
Proc Natl Acad Sci USA
, vol.79
, pp. 137
-
-
Antonarakis, S.E.1
Boehm, C.D.2
Giardinia, P.J.V.3
Kazazian, H.H.J.4
-
11
-
-
0025292312
-
Molecular basis for dominantly inherited inclusion body β-thalassemia
-
Thein SL, Hesketh C, Taylor P, Temperley IJ, Hutchinson RM, Old JM, Wood WG, Clegg JB, Weatherall DJ: Molecular basis for dominantly inherited inclusion body β-thalassemia. Proc Natl Acad Sci USA 87:3924, 1990
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 3924
-
-
Thein, S.L.1
Hesketh, C.2
Taylor, P.3
Temperley, I.J.4
Hutchinson, R.M.5
Old, J.M.6
Wood, W.G.7
Clegg, J.B.8
Weatherall, D.J.9
-
12
-
-
0025923084
-
A novel δ° mutation in cis with Hb Knossos: A study of different genetic interactions in three Egyptian families
-
Olds RJ, Sura T, Jackson B, Wonke B, Hoffbrand AV, Them SL: A novel δ° mutation in cis with Hb Knossos: A study of different genetic interactions in three Egyptian families. Br J Haematol 78:430, 1991
-
(1991)
Br J Haematol
, vol.78
, pp. 430
-
-
Olds, R.J.1
Sura, T.2
Jackson, B.3
Wonke, B.4
Hoffbrand, A.V.5
Them, S.L.6
-
13
-
-
0025135102
-
Locus assignment of human a globin mutations by selective amplification and direct sequencing
-
Dodé C, Rochette J, Krishnamoorthy R: Locus assignment of human a globin mutations by selective amplification and direct sequencing. Br J Haematol 76:275, 1990
-
(1990)
Br J Haematol
, vol.76
, pp. 275
-
-
Dodé, C.1
Rochette, J.2
Krishnamoorthy, R.3
-
14
-
-
0025993003
-
A simple and rapid method of direct sequencing using Dynabeads
-
Thein SL, Hinton J: A simple and rapid method of direct sequencing using Dynabeads. Br J Haematol 79:113, 1991
-
(1991)
Br J Haematol
, vol.79
, pp. 113
-
-
Thein, S.L.1
Hinton, J.2
-
15
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
-
Chomczynski P, Sacchi N: Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156, 1987
-
(1987)
Anal Biochem
, vol.162
, pp. 156
-
-
Chomczynski, P.1
Sacchi, N.2
-
16
-
-
0021678366
-
The silent carrier allele: β thalassemia without a mutation in the β-globin gene or its immediate flanking regions
-
Semenza GL, Delgrosso K, Poncz M, Malladi P, Schwartz E, Surrey S: The silent carrier allele: β thalassemia without a mutation in the β-globin gene or its immediate flanking regions. Cell 39:123, 1984
-
(1984)
Cell
, vol.39
, pp. 123
-
-
Semenza, G.L.1
Delgrosso, K.2
Poncz, M.3
Malladi, P.4
Schwartz, E.5
Surrey, S.6
-
17
-
-
0021279244
-
Detection of a novel DNA polymorphism in the β-globin gene cluster
-
Semenza GL, Malladi P, Surrey S, Delgrosso K, Poncz M, Schwartz E: Detection of a novel DNA polymorphism in the β-globin gene cluster. J Biol Chem 259:6045, 1984
-
(1984)
J Biol Chem
, vol.259
, pp. 6045
-
-
Semenza, G.L.1
Malladi, P.2
Surrey, S.3
Delgrosso, K.4
Poncz, M.5
Schwartz, E.6
-
18
-
-
0028344092
-
Nonsense codon mutations in the terminal exon of the β-globin gene are not associated with a reduction in β-mRNA accumulation: A mechanism for the phenotype of dominant β-thalassemia
-
Hall GW, Thein SL: Nonsense codon mutations in the terminal exon of the β-globin gene are not associated with a reduction in β-mRNA accumulation: A mechanism for the phenotype of dominant β-thalassemia. Blood 83:2031, 1994
-
(1994)
Blood
, vol.83
, pp. 2031
-
-
Hall, G.W.1
Thein, S.L.2
-
19
-
-
0027308859
-
α-thalassaemia
-
Higgs DR and Weatherall DJ (ed): London, UK, Baillière Tindall
-
Higgs DR: α-thalassaemia, in Higgs DR and Weatherall DJ (ed): Baillière's Clinical Haematology. International Practice and Research: The Haemoglobinopathies, 6:1. London, UK, Baillière Tindall, 1993, p 117
-
(1993)
Baillière's Clinical Haematology. International Practice and Research: The Haemoglobinopathies
, vol.6
, Issue.1
, pp. 117
-
-
Higgs, D.R.1
-
20
-
-
0028171904
-
Homozygous β-thalassaemia resulting in the β-thalassaemia carrier state phenotype
-
Rosatelli MC, Pischedda A, Meloni A, Saba L, Pomo A, Travi M, Fattore S, Cao A: Homozygous β-thalassaemia resulting in the β-thalassaemia carrier state phenotype. Br J Haematol 88:562, 1994
-
(1994)
Br J Haematol
, vol.88
, pp. 562
-
-
Rosatelli, M.C.1
Pischedda, A.2
Meloni, A.3
Saba, L.4
Pomo, A.5
Travi, M.6
Fattore, S.7
Cao, A.8
-
21
-
-
0023601968
-
Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA
-
Wong C, Dowling CE, Saiki RK, Higuchi RG, Erlich HA, Kazazian HHJ: Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA. Nature 330:384, 1987
-
(1987)
Nature
, vol.330
, pp. 384
-
-
Wong, C.1
Dowling, C.E.2
Saiki, R.K.3
Higuchi, R.G.4
Erlich, H.A.5
Kazazian, H.H.J.6
-
22
-
-
0023782895
-
Clinical and genetic heterogeneity in black patients with homozygous β-thalassemia from the Southeastern United States
-
Gonzalez-Redondo JM, Stoming TA, Lanclos KD, Gu YC, Kutlar A, Kutlar F, Nakatsuji T, Deng B, Han IS, McKie VC, Huisman THJ: Clinical and genetic heterogeneity in black patients with homozygous β-thalassemia from the Southeastern United States. Blood 72:1007, 1988
-
(1988)
Blood
, vol.72
, pp. 1007
-
-
Gonzalez-Redondo, J.M.1
Stoming, T.A.2
Lanclos, K.D.3
Gu, Y.C.4
Kutlar, A.5
Kutlar, F.6
Nakatsuji, T.7
Deng, B.8
Han, I.S.9
McKie, V.C.10
Huisman, T.H.J.11
-
23
-
-
0024555497
-
Homozygous β-thalassemia without anemia
-
Safaya S, Rieder RF, Dowling CE, Kazazian HHJ, Adams JGI: Homozygous β-thalassemia without anemia. Blood 73:324, 1989
-
(1989)
Blood
, vol.73
, pp. 324
-
-
Safaya, S.1
Rieder, R.F.2
Dowling, C.E.3
Kazazian, H.H.J.4
Adams, J.G.I.5
-
24
-
-
0025856712
-
Moderate reduction of β-globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element
-
Kulozik AE, Bellan-Koch A, Bail S, Kohne S, Kleihauer E: Moderate reduction of β-globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element. Blood 77:2054, 1991
-
(1991)
Blood
, vol.77
, pp. 2054
-
-
Kulozik, A.E.1
Bellan-Koch, A.2
Bail, S.3
Kohne, S.4
Kleihauer, E.5
-
25
-
-
0026569366
-
Promoter mutations producing mild β-thalassaemia in the Italian population
-
Meloni A, Rosatelli MC, Faa V, Sardu R, Saba L, Murru S, Sciarratta GV, Baldi M, Tannoia N: Promoter mutations producing mild β-thalassaemia in the Italian population. Br J Haematol 80:222, 1992
-
(1992)
Br J Haematol
, vol.80
, pp. 222
-
-
Meloni, A.1
Rosatelli, M.C.2
Faa, V.3
Sardu, R.4
Saba, L.5
Murru, S.6
Sciarratta, G.V.7
Baldi, M.8
Tannoia, N.9
-
26
-
-
0027196440
-
Functional analysis of the 4 bp deletion identified in the 5prime; untranslated region of one of the β-globin genes from a Chinese β-thalassaemia heterozygote
-
Francès V, Morlé F, Godet J: Functional analysis of the 4 bp deletion identified in the 5prime; untranslated region of one of the β-globin genes from a Chinese β-thalassaemia heterozygote. Br J Haematol 84:163, 1993
-
(1993)
Br J Haematol
, vol.84
, pp. 163
-
-
Francès, V.1
Morlé, F.2
Godet, J.3
-
27
-
-
0018933975
-
The structure and evolution of the human β-globin gene family
-
Efstratiadis A, Posakony JW, Maniatis T, Lawn RM, O'Connell C, Spritz RA, DeRiel JK, Forget BG, Weissman SM, Slightom JL, Blechl AE, Smithies O, Baralle FE, Shoulders CC, Proudfoot NJ: The structure and evolution of the human β-globin gene family. Cell 21:653, 1980
-
(1980)
Cell
, vol.21
, pp. 653
-
-
Efstratiadis, A.1
Posakony, J.W.2
Maniatis, T.3
Lawn, R.M.4
O'Connell, C.5
Spritz, R.A.6
Deriel, J.K.7
Forget, B.G.8
Weissman, S.M.9
Slightom, J.L.10
Blechl, A.E.11
Smithies, O.12
Baralle, F.E.13
Shoulders, C.C.14
Proudfoot, N.J.15
-
28
-
-
0026457791
-
5′ untranslated sequences modulate rapid mRNA degradation mediated by 3′ AU-rich element in v-lc-fos recombinants
-
Roy N, Laflamme G, Raymond V: 5′ untranslated sequences modulate rapid mRNA degradation mediated by 3′ AU-rich element in v-lc-fos recombinants. Nucleic Acids Res 20:5753, 1992
-
(1992)
Nucleic Acids Res
, vol.20
, pp. 5753
-
-
Roy, N.1
Laflamme, G.2
Raymond, V.3
-
29
-
-
0026738247
-
The 5′ untranslated region of the human cellular glutathione peroxidase gene is indispensable for its expression in COS-7 cells
-
Kurata H, Kamoshita K, Kawai E, Sukenaga Y, Mizutani T: The 5′ untranslated region of the human cellular glutathione peroxidase gene is indispensable for its expression in COS-7 cells. FEBS Lett 312:10, 1992
-
(1992)
FEBS Lett
, vol.312
, pp. 10
-
-
Kurata, H.1
Kamoshita, K.2
Kawai, E.3
Sukenaga, Y.4
Mizutani, T.5
-
30
-
-
0026649524
-
Mutation creates an open reading frame within the 5′ untranslated region of macaque erythrocyte carbonic anhydrase (CA) I mRNA that suppresses CA I expression and supports the scanning model for translation
-
Bergenhem NCH, Venta PJ, Hopkins PJ, Kim HJ, Tashian RE: Mutation creates an open reading frame within the 5′ untranslated region of macaque erythrocyte carbonic anhydrase (CA) I mRNA that suppresses CA I expression and supports the scanning model for translation. Proc Natl Acad Sci USA 89:8798, 1992
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 8798
-
-
Bergenhem, N.C.H.1
Venta, P.J.2
Hopkins, P.J.3
Kim, H.J.4
Tashian, R.E.5
-
31
-
-
0027183347
-
Functional and genetic plasticities of the poliovirus genome: Quasiinfectious RNAs modified in the 5′-untranslated region yield a variety of pseudorevertants
-
Gyml AP, Pilipenko EV, Maslova SV, Belov GA, Agol VI: Functional and genetic plasticities of the poliovirus genome: Quasiinfectious RNAs modified in the 5′-untranslated region yield a variety of pseudorevertants. J Virol 67:6309, 1993
-
(1993)
J Virol
, vol.67
, pp. 6309
-
-
Gyml, A.P.1
Pilipenko, E.V.2
Maslova, S.V.3
Belov, G.A.4
Agol, V.I.5
-
32
-
-
0027051886
-
Conserved tertiary structure elements in the 5′ untranslated region of human enteroviruses and rhinoviruses
-
Le SY, Chen JH, Sonenberg N, Maizel JV: Conserved tertiary structure elements in the 5′ untranslated region of human enteroviruses and rhinoviruses. Virology 191:858, 1992
-
(1992)
Virology
, vol.191
, pp. 858
-
-
Le, S.Y.1
Chen, J.H.2
Sonenberg, N.3
Maizel, J.V.4
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