-
1
-
-
0028943887
-
The contribution of hypogonadism to the development of osteoporosis in thalassaemia major: New therapeutic approaches
-
Anapliotou, M.L., Kastanias, I.T., Psara, P., Evangelou, E.A., Liparaki, M. & Dimitriou, P. (1995) The contribution of hypogonadism to the development of osteoporosis in thalassaemia major: new therapeutic approaches. Clinical Endocrinology, 42, 279-287.
-
(1995)
Clinical Endocrinology
, vol.42
, pp. 279-287
-
-
Anapliotou, M.L.1
Kastanias, I.T.2
Psara, P.3
Evangelou, E.A.4
Liparaki, M.5
Dimitriou, P.6
-
2
-
-
0034572933
-
Iron homeostasis: Insights from genetics and animal models
-
Andrews, N. (2000) Iron homeostasis: insights from genetics and animal models. Nature Reviews Genetics, 1, 208-216.
-
(2000)
Nature Reviews Genetics
, vol.1
, pp. 208-216
-
-
Andrews, N.1
-
3
-
-
0036800592
-
A genetic view of iron homeostasis
-
Andrews, N.C. (2002) A genetic view of iron homeostasis. Seminars in Hematology, 39, 227-234.
-
(2002)
Seminars in Hematology
, vol.39
, pp. 227-234
-
-
Andrews, N.C.1
-
4
-
-
0023955979
-
The human β-globin gene contains multiple regulatory regions: Identification of one promoter and two downstream enhancers
-
Antoniou, M., deBoer, E., Habets, G. & Grosveld, F. (1988) The human β-globin gene contains multiple regulatory regions: identification of one promoter and two downstream enhancers. EMBO Journal, 7, 377-384.
-
(1988)
EMBO Journal
, vol.7
, pp. 377-384
-
-
Antoniou, M.1
DeBoer, E.2
Habets, G.3
Grosveld, F.4
-
5
-
-
0037065526
-
A novel mechanism for thalassaemia intermedia
-
Badens, C., Mattei, M.G., Imbert, A.M., Lapoumérouliee, C., Martini, N., Michel, G. & Lena-Russo, D. (2002) A novel mechanism for thalassaemia intermedia. The Lancet, 359, 132-133.
-
(2002)
The Lancet
, vol.359
, pp. 132-133
-
-
Badens, C.1
Mattei, M.G.2
Imbert, A.M.3
Lapoumérouliee, C.4
Martini, N.5
Michel, G.6
Lena-Russo, D.7
-
6
-
-
0034099458
-
Transforming growth factor-beta1 gene polymorphism, bone turnover, and bone mass in Italian postmenopausal women
-
Bertoldo, F., D'Agruma, L., Furlan, F., Colapietro, F., Lorenzi, M.T., Maiorano, N., Iolascon, A., Zelante, L., Locascio, V. & Gasparini, P. (2000) Transforming growth factor-beta1 gene polymorphism, bone turnover, and bone mass in Italian postmenopausal women. Journal of Bone and Mineral Research, 15, 634-639.
-
(2000)
Journal of Bone and Mineral Research
, vol.15
, pp. 634-639
-
-
Bertoldo, F.1
D'Agruma, L.2
Furlan, F.3
Colapietro, F.4
Lorenzi, M.T.5
Maiorano, N.6
Iolascon, A.7
Zelante, L.8
Locascio, V.9
Gasparini, P.10
-
7
-
-
0028867826
-
The genetic basis of the reduced expression of bilirubin UCP-glucuronosultransferase 1 in Gilbert's syndrome
-
Bosma, P.J., Chowdhury, J.R., Bakker, C., Gantla, S., De Boer, A., Oostra, B.A., Lindhout, D., Tytgat, G.N.J., Jansen, P.L.M., Elferink, R.P.J.O. & Chowdhury, N.R. (1995) The genetic basis of the reduced expression of bilirubin UCP-glucuronosultransferase 1 in Gilbert's syndrome. New England Journal of Medicine, 333, 1171-1175.
-
(1995)
New England Journal of Medicine
, vol.333
, pp. 1171-1175
-
-
Bosma, P.J.1
Chowdhury, J.R.2
Bakker, C.3
Gantla, S.4
De Boer, A.5
Oostra, B.A.6
Lindhout, D.7
Tytgat, G.N.J.8
Jansen, P.L.M.9
Elferink, R.P.J.O.10
Chowdhury, N.R.11
-
8
-
-
0016793039
-
Fetal hemoglobin restriction to a few erythrocytes (F cells) in normal human adults
-
Boyer, S.H., Belding, T.K., Margolet, L. & Noyes, A.N. (1975) Fetal hemoglobin restriction to a few erythrocytes (F cells) in normal human adults. Science, 188, 361-363.
-
(1975)
Science
, vol.188
, pp. 361-363
-
-
Boyer, S.H.1
Belding, T.K.2
Margolet, L.3
Noyes, A.N.4
-
9
-
-
0034687732
-
Comparative structural and functional analysis of the olfactory receptor genes flanking the human and mouse beta-globin gene clusters
-
Bulger, M., Bender, M.A., van Doorninck, J.H., Wertman, B., Farrell, C.M., Felsenfeld, G., Groudine, M. & Hardison, R. (2000) Comparative structural and functional analysis of the olfactory receptor genes flanking the human and mouse beta-globin gene clusters. PNAS, 97, 14560-14565.
-
(2000)
PNAS
, vol.97
, pp. 14560-14565
-
-
Bulger, M.1
Bender, M.A.2
Van Doorninck, J.H.3
Wertman, B.4
Farrell, C.M.5
Felsenfeld, G.6
Groudine, M.7
Hardison, R.8
-
10
-
-
0003739602
-
-
W.B. Saunders Company, Philadelphia, PA
-
Bunn, H.F. & Forget, E.G. (1986) Hemoglobin: Molecular, Genetic and Clinical Aspects. W.B. Saunders Company, Philadelphia, PA.
-
(1986)
Hemoglobin: Molecular, Genetic and Clinical Aspects
-
-
Bunn, H.F.1
Forget, E.G.2
-
11
-
-
0028942051
-
Genetic interactions in thalassemia intermedia: Analysis of beta-mutations, alpha-genotype, gamma-promoters, and beta-LCR hypersensitive sites 2 and 4 in Italian patients
-
Camaschella, C., Maza, U., Roetto, A., Gottardi, E., Parziale, A., Travi, M., Fattore, S., Bacchiega, D., Fiorelli, G. & Cappellini, M.D. (1995) Genetic interactions in thalassemia intermedia: analysis of beta-mutations, alpha-genotype, gamma-promoters, and beta-LCR hypersensitive sites 2 and 4 in Italian patients. American Journal of Hematology, 48, 82-87.
-
(1995)
American Journal of Hematology
, vol.48
, pp. 82-87
-
-
Camaschella, C.1
Maza, U.2
Roetto, A.3
Gottardi, E.4
Parziale, A.5
Travi, M.6
Fattore, S.7
Bacchiega, D.8
Fiorelli, G.9
Cappellini, M.D.10
-
12
-
-
0030850053
-
Different hematological phenotypes caused by the interaction of triplicated alpha-globin genes and heterozygous beta-thalassemia
-
Camaschella, C., Kattamis, A.C., Petroni, D., Roetto, A., Sivera, P., Sbaiz, L., Cohen, A., Ohene-Frempong, K., Trifillis, P., Surrey, S. & Fortina, P. (1997) Different hematological phenotypes caused by the interaction of triplicated alpha-globin genes and heterozygous beta-thalassemia. American Journal of Hematology, 55, 83-88.
-
(1997)
American Journal of Hematology
, vol.55
, pp. 83-88
-
-
Camaschella, C.1
Kattamis, A.C.2
Petroni, D.3
Roetto, A.4
Sivera, P.5
Sbaiz, L.6
Cohen, A.7
Ohene-Frempong, K.8
Trifillis, P.9
Surrey, S.10
Fortina, P.11
-
13
-
-
0036898580
-
Long-range chromatin regulatory interactions in vivo
-
Carter, D., Chakalova, L., Osborne, C.S., Dai, Y.F. & Fraser, P. (2002) Long-range chromatin regulatory interactions in vivo. Nature Genetics, 32, 623-626.
-
(2002)
Nature Genetics
, vol.32
, pp. 623-626
-
-
Carter, D.1
Chakalova, L.2
Osborne, C.S.3
Dai, Y.F.4
Fraser, P.5
-
16
-
-
0030065604
-
Dissecting the loci controlling fetal haemoglobin production on chromosomes lip and 6q by the regressive approach
-
Craig, I.E., Rochette, I., Fisher, C.A., Weatherall, D.J., Marc, S., Lathrop, G.M., Demenais, F. & Thein, S.L. (1996) Dissecting the loci controlling fetal haemoglobin production on chromosomes lip and 6q by the regressive approach. Nature Genetics, 12, 58-64.
-
(1996)
Nature Genetics
, vol.12
, pp. 58-64
-
-
Craig, I.E.1
Rochette, I.2
Fisher, C.A.3
Weatherall, D.J.4
Marc, S.5
Lathrop, G.M.6
Demenais, F.7
Thein, S.L.8
-
17
-
-
0003248174
-
A novel mechanism of β thalassemia: The insertion of L1 retrotransposable element into β globin IVS II
-
Divoky, V., Indrak, K., Mrug, M., Brabec, V., Huisman, T.H.J. & Prchal, J.T. (1996) A novel mechanism of β thalassemia: The insertion of L1 retrotransposable element into β globin IVS II. Blood, 88, 148a.
-
(1996)
Blood
, vol.88
-
-
Divoky, V.1
Indrak, K.2
Mrug, M.3
Brabec, V.4
Huisman, T.H.J.5
Prchal, J.T.6
-
18
-
-
0026708201
-
Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2
-
Dover, G.J., Smith, K.D., Chang, Y.C., Purvis, S., Mays, A., Meyers, D.A., Sheils, C. & Serjeant, G. (1992) Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2. Blood, 80, 816-824.
-
(1992)
Blood
, vol.80
, pp. 816-824
-
-
Dover, G.J.1
Smith, K.D.2
Chang, Y.C.3
Purvis, S.4
Mays, A.5
Meyers, D.A.6
Sheils, C.7
Serjeant, G.8
-
19
-
-
0034492452
-
Bone mineral metabolism in adults with beta-thalassaemia major and intermedia
-
Dresner Pollack, R., Rachmilewitz, E., Blumenfdd, A., Idelson, M. & Goldfarb, A.W. (2000) Bone mineral metabolism in adults with beta-thalassaemia major and intermedia. British Journal of Haematology, 111, 902-907.
-
(2000)
British Journal of Haematology
, vol.111
, pp. 902-907
-
-
Dresner Pollack, R.1
Rachmilewitz, E.2
Blumenfdd, A.3
Idelson, M.4
Goldfarb, A.W.5
-
20
-
-
0032194956
-
Apolipoprotein e epsilon4 allele as a genetic risk factor for left ventricular failure in homozygous beta-thalassemia
-
Economou-Peterson, E., Aesspopos, A., Kladi, A., Flevari, P., Karabatsos, F., Fragodimitri, C., Nicolaidis, P., Vrettou, H., Vassilopoulos, D., Karagiorga-Lagana, M., kremastinos, D.T. & Petersen, M.B. (1998) Apolipoprotein E epsilon4 allele as a genetic risk factor for left ventricular failure in homozygous beta-thalassemia. Blood, 92, 3455-3459.
-
(1998)
Blood
, vol.92
, pp. 3455-3459
-
-
Economou-Peterson, E.1
Aesspopos, A.2
Kladi, A.3
Flevari, P.4
Karabatsos, F.5
Fragodimitri, C.6
Nicolaidis, P.7
Vrettou, H.8
Vassilopoulos, D.9
Karagiorga-Lagana, M.10
Kremastinos, D.T.11
Petersen, M.B.12
-
21
-
-
0018933975
-
The structure and evolution of the human beta-globin gene family
-
Efstratiadis, A., Posakony, J.W., Maniatis, T., Lawn, R.M., O'Connell, C., Spritz, R.A., DeRiel, J.K., Forget, E.G., Weissman, S.M., Slightom, J.L., Blechl, A.E., Smithies, O., Baralle, F.E., Shoulders, C.C. & Proudfoot, N.J. (1980) The structure and evolution of the human beta-globin gene family. Cell, 21, 653-668.
-
(1980)
Cell
, vol.21
, pp. 653-668
-
-
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, E.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
-
22
-
-
0036092892
-
The hypercoagulable state in thalassemia
-
Eldor, A. & Rachmilewitz, E.A. (2002) The hypercoagulable state in thalassemia. Blood, 99, 36-43.
-
(2002)
Blood
, vol.99
, pp. 36-43
-
-
Eldor, A.1
Rachmilewitz, E.A.2
-
23
-
-
0024637804
-
One form of inclusion body β-thalassemia is due to a GAA-〉TAA mutation at codon 121 of the β chain
-
Fei, Y.J., Stoming, T.A., Kutlar, A., Huisman, T.H.J. & Stamatoyannopoulos, G. (1989) One form of inclusion body β-thalassemia is due to a GAA-〉TAA mutation at codon 121 of the β chain. Blood, 73, 1075-1077.
-
(1989)
Blood
, vol.73
, pp. 1075-1077
-
-
Fei, Y.J.1
Stoming, T.A.2
Kutlar, A.3
Huisman, T.H.J.4
Stamatoyannopoulos, G.5
-
24
-
-
0032429141
-
The population genetics of the haemoglobinopathies
-
ed. by G.P. Rodgers, Bailliere Tindall, London
-
Flint, J., Harding, R.M., Boyce, A.J. & Clegg, J.B. (1998) The population genetics of the haemoglobinopathies. In: Bailliére's Clinical Haematology (ed. by G.P. Rodgers), Vol. 11, pp. 1-52. Bailliere Tindall, London.
-
(1998)
Bailliére's Clinical Haematology
, vol.11
, pp. 1-52
-
-
Flint, J.1
Harding, R.M.2
Boyce, A.J.3
Clegg, J.B.4
-
25
-
-
0021067375
-
A family with segregating triplicated alpha globin loci and β thalassaemia
-
Galanello, R., Ruggeri, R., Paglietti, E., Addis, M., Melis, M.A. & Cao, A. (1983) A family with segregating triplicated alpha globin loci and β thalassaemia. Blood, 62, 1035-1040.
-
(1983)
Blood
, vol.62
, pp. 1035-1040
-
-
Galanello, R.1
Ruggeri, R.2
Paglietti, E.3
Addis, M.4
Melis, M.A.5
Cao, A.6
-
26
-
-
0024338661
-
Molecular analysis of beta zero-thalassemia intermedia in Sardinia
-
Galanello, R., Dessi, E., Melis, M.A., Addis, M., Sanna, M.A., Rosatelli, C., Argiolu, F., Giagu, N., Turco, M.P., Cacace, E., Pirastu, M. & Cao, A. (1989) Molecular analysis of beta zero-thalassemia intermedia in Sardinia. Blood, 74, 823-827.
-
(1989)
Blood
, vol.74
, pp. 823-827
-
-
Galanello, R.1
Dessi, E.2
Melis, M.A.3
Addis, M.4
Sanna, M.A.5
Rosatelli, C.6
Argiolu, F.7
Giagu, N.8
Turco, M.P.9
Cacace, E.10
Pirastu, M.11
Cao, A.12
-
27
-
-
0030698230
-
Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome
-
Galanello, R., Perseu, L., Melis, M.A., Cipollina, L., Barella, S., Giagu, N., Turco, M.P., Maccioni, O. & Cao, A. (1997) Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome. British Journal of Haematology, 99, 433-436.
-
(1997)
British Journal of Haematology
, vol.99
, pp. 433-436
-
-
Galanello, R.1
Perseu, L.2
Melis, M.A.3
Cipollina, L.4
Barella, S.5
Giagu, N.6
Turco, M.P.7
Maccioni, O.8
Cao, A.9
-
28
-
-
0035676442
-
Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia
-
Galanello, R., Piras, S., Barella, S., Leoni, G.B., Cipollina, M.D., Perseu, L. & Cao, A. (2001) Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia. British Journal of Haematology, 115, 926-928.
-
(2001)
British Journal of Haematology
, vol.115
, pp. 926-928
-
-
Galanello, R.1
Piras, S.2
Barella, S.3
Leoni, G.B.4
Cipollina, M.D.5
Perseu, L.6
Cao, A.7
-
29
-
-
0033966370
-
Genetic influences on F cells and other hematological variables: A twin heritability study
-
Garner, C., Tatu, T., Reittie, J.E., Littlewood, T., Darley, J., Cervino, S., Farrall, M., Kelly, P., Spector, T.D. & Thein, S.L. (2000a) Genetic influences on F cells and other hematological variables: a twin heritability study. Blood, 95, 342-346.
-
(2000)
Blood
, vol.95
, pp. 342-346
-
-
Garner, C.1
Tatu, T.2
Reittie, J.E.3
Littlewood, T.4
Darley, J.5
Cervino, S.6
Farrall, M.7
Kelly, P.8
Spector, T.D.9
Thein, S.L.10
-
30
-
-
0008445052
-
A candidate gene study of F cell levels in sibling pairs using a joint linkage and association analysis
-
Garner, C., Tatu, T., Game, L., Cardon, L.R., Spector, T.D., Farrall, M. & Thein, S.L. (2000b) A candidate gene study of F cell levels in sibling pairs using a joint linkage and association analysis. GeneScreen, 1, 9-14.
-
(2000)
GeneScreen
, vol.1
, pp. 9-14
-
-
Garner, C.1
Tatu, T.2
Game, L.3
Cardon, L.R.4
Spector, T.D.5
Farrall, M.6
Thein, S.L.7
-
31
-
-
0036181252
-
Evidence for Genetic Interaction between the beta-globin complex and chromosome 8q in the expression of fetal hemoglobin
-
Garner, C.P., Tatu, T., Best, S., Creary, L. & Thein, S.L. (2002) Evidence for Genetic Interaction between the beta-globin complex and chromosome 8q in the expression of fetal hemoglobin. American Journal of Human Genetics, 70, 793-799.
-
(2002)
American Journal of Human Genetics
, vol.70
, pp. 793-799
-
-
Garner, C.P.1
Tatu, T.2
Best, S.3
Creary, L.4
Thein, S.L.5
-
32
-
-
0020985678
-
A gene controlling fetal hemoglobin expression in adults is not linked to the non-alpha globin cluster
-
Gianni, A.M., Bregni, M., Cappellini, M.D., Fiorelli, G., Taramelli, R., Giglioni, B., Comi, P. & Ottolenghi, S. (1983) A gene controlling fetal hemoglobin expression in adults is not linked to the non-alpha globin cluster. EMBO Journal, 2, 921-925.
-
(1983)
EMBO Journal
, vol.2
, pp. 921-925
-
-
Gianni, A.M.1
Bregni, M.2
Cappellini, M.D.3
Fiorelli, G.4
Taramelli, R.5
Giglioni, B.6
Comi, P.7
Ottolenghi, S.8
-
33
-
-
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, J.M., Stoming, T.A., Kutlar, A., Kutlar, F., Lanclos, K.D., Howard, E.F., Fei, Y.J., Aksoy, M., Altay, C., Gurgey, A., Basak, A.N., Efremov, G.D., Petkov, G. & Huisman, T.H.J. (1989) 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, 1705-1711.
-
(1989)
Blood
, vol.73
, pp. 1705-1711
-
-
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
-
34
-
-
0029836744
-
Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene
-
Grant, S.F., Reid, D.M., Blake, G., Herd, R., Fogelman, I. & Ralston, S.H. (1996) Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nature Genetics, 14, 203-205.
-
(1996)
Nature Genetics
, vol.14
, pp. 203-205
-
-
Grant, S.F.1
Reid, D.M.2
Blake, G.3
Herd, R.4
Fogelman, I.5
Ralston, S.H.6
-
35
-
-
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, G.W. & Thein, S.L. (1994) 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, 2031-2037.
-
(1994)
Blood
, vol.83
, pp. 2031-2037
-
-
Hall, G.W.1
Thein, S.L.2
-
36
-
-
0033525169
-
A perfect message: RNA surveillance and nonsense-mediated decay
-
Hentze, M.W. & Kulozik, A.E. (1999) A perfect message: RNA surveillance and nonsense-mediated decay. Cell, 96, 307-310.
-
(1999)
Cell
, vol.96
, pp. 307-310
-
-
Hentze, M.W.1
Kulozik, A.E.2
-
37
-
-
0031029914
-
Erythroblastic inclusions in dominantly inherited β thalassaemias
-
Ho, P.J., Wickramasinghe, S.N., Rees, D.C., Lee, M.J., Eden, A. & Thein, S.L. (1997) Erythroblastic inclusions in dominantly inherited β thalassaemias. Blood, 89, 322-328.
-
(1997)
Blood
, vol.89
, pp. 322-328
-
-
Ho, P.J.1
Wickramasinghe, S.N.2
Rees, D.C.3
Lee, M.J.4
Eden, A.5
Thein, S.L.6
-
38
-
-
0031972656
-
Beta thalassemia intermedia: Is it possible to consistently predict phenotype from genotype?
-
Ho, P.J., Hall, G.W., Luo, L.V., Weatherall, D.J. & Thein, S.L. (1998) Beta thalassemia intermedia: is it possible to consistently predict phenotype from genotype? British Journal of Haematology, 100, 70-78.
-
(1998)
British Journal of Haematology
, vol.100
, pp. 70-78
-
-
Ho, P.J.1
Hall, G.W.2
Luo, L.V.3
Weatherall, D.J.4
Thein, S.L.5
-
39
-
-
0030608774
-
2 in heterozygotes and homozygotes for beta-thalassemia mutations: Influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter
-
2 in heterozygotes and homozygotes for beta-thalassemia mutations: Influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter. Acta Haematologica, 98, 187-194.
-
(1997)
Acta Haematologica
, vol.98
, pp. 187-194
-
-
Huisman, T.H.J.1
-
40
-
-
0032411128
-
High prevalence of low bone mass in thalassaemia major
-
Jensen, C.E., Tuck, S.M., Agnew, J.E., Koneru, S., Morris, R.W., Yardumian, A., Prescott, E., Hoffbrand, A.V. & Wonke, B. (1998) High prevalence of low bone mass in thalassaemia major. British Journal of Haematology, 103, 911-915.
-
(1998)
British Journal of Haematology
, vol.103
, pp. 911-915
-
-
Jensen, C.E.1
Tuck, S.M.2
Agnew, J.E.3
Koneru, S.4
Morris, R.W.5
Yardumian, A.6
Prescott, E.7
Hoffbrand, A.V.8
Wonke, B.9
-
41
-
-
0037071860
-
An abundant erythroid protein that stabilizes free alpha-haemoglobin
-
Kihm, A.J., Kong, Y., Hong, W., Russell, J.E., Rouda, S., Adachi, K., Simon, M.C., Blobel, G.A. & Weiss, M.J. (2002) An abundant erythroid protein that stabilizes free alpha-haemoglobin. Nature, 417, 758-763.
-
(2002)
Nature
, vol.417
, pp. 758-763
-
-
Kihm, A.J.1
Kong, Y.2
Hong, W.3
Russell, J.E.4
Rouda, S.5
Adachi, K.6
Simon, M.C.7
Blobel, G.A.8
Weiss, M.J.9
-
42
-
-
0346497365
-
Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients
-
Labie, D., Pagnier, J., Lapoumeroulie, C., Rouabhi, F., Dunda-Belkhodja, O., Chardin, P., Beldjord, C., Wajcman, H., Fabry, M.E. & Nagel, R.L. (1985) Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients. Proceedings of the National Academy of Sciences of the United States of America, 82, 2111-2114.
-
(1985)
Proceedings of the National Academy of Sciences of the United States of America
, vol.82
, pp. 2111-2114
-
-
Labie, D.1
Pagnier, J.2
Lapoumeroulie, C.3
Rouabhi, F.4
Dunda-Belkhodja, O.5
Chardin, P.6
Beldjord, C.7
Wajcman, H.8
Fabry, M.E.9
Nagel, R.L.10
-
43
-
-
0029330286
-
When cells stop making sense: Effects of nonsense codons on RNA metabolism in vertebrate cells
-
Maquat, L.E. (1995) When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA, 1, 453-465.
-
(1995)
RNA
, vol.1
, pp. 453-465
-
-
Maquat, L.E.1
-
44
-
-
0033373391
-
Molecular, haematological and clinical studies of the -101 C → T substitution in the β-globin gene promoter in 25 β-thalassaemia intermedia patients and 45 heterozygotes
-
Maragoudaki, E., Kanavakis, E., Trager-Synodinos, J., Vrettou, C., Tzetis, M., Metxotou-Mavrommati, A. & Kattamis, C. (1999) Molecular, haematological and clinical studies of the -101 C → T substitution in the β-globin gene promoter in 25 β-thalassaemia intermedia patients and 45 heterozygotes. British Journal of Haematology, 107, 699-706.
-
(1999)
British Journal of Haematology
, vol.107
, pp. 699-706
-
-
Maragoudaki, E.1
Kanavakis, E.2
Trager-Synodinos, J.3
Vrettou, C.4
Tzetis, M.5
Metxotou-Mavrommati, A.6
Kattamis, C.7
-
45
-
-
0036197547
-
H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers
-
Melis, M.A., Cau, M., Deidda, F., Barella, S., Cao, A. & Galanello, R. (2002) H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers. Haematologica, 87, 242-245.
-
(2002)
Haematologica
, vol.87
, pp. 242-245
-
-
Melis, M.A.1
Cau, M.2
Deidda, F.3
Barella, S.4
Cao, A.5
Galanello, R.6
-
46
-
-
0030923653
-
Global prevalence of putative haemochromatosis mutations
-
Merryweather-Clarke, A.T., Pointon, J.J., Shearman, J.D. & Robson, K.J.H. (1997) Global prevalence of putative haemochromatosis mutations. Journal of Medical Genetics, 34, 275-278.
-
(1997)
Journal of Medical Genetics
, vol.34
, pp. 275-278
-
-
Merryweather-Clarke, A.T.1
Pointon, J.J.2
Shearman, J.D.3
Robson, K.J.H.4
-
47
-
-
0034760144
-
Influence of bilirubin uridine diphosphate-glucuronosyltransferase 1A promoter polymorphisms on serum bilirubin levels and cholelithiasis in children with sickle cell anemia
-
Passon, R.G., Howard, T.A., Zimmerman, S.A., Schultz, W.H. & Ware, R.E. (2001) Influence of bilirubin uridine diphosphate-glucuronosyltransferase 1A promoter polymorphisms on serum bilirubin levels and cholelithiasis in children with sickle cell anemia. American Journal of Pediatric Hematology and Oncology, 23, 448-451.
-
(2001)
American Journal of Pediatric Hematology and Oncology
, vol.23
, pp. 448-451
-
-
Passon, R.G.1
Howard, T.A.2
Zimmerman, S.A.3
Schultz, W.H.4
Ware, R.E.5
-
48
-
-
0034531861
-
Osteoporosis in beta-thalassaemia major patients: Analysis of the genetic background
-
Perrotta, S., Cappellini, M.D., Bertoldo, F., Servedio, V., Iolascon, G., D'Agruma, L., Gasparini, P., Siciliani, M.C. & Iolascon, A. (2000) Osteoporosis in beta-thalassaemia major patients: analysis of the genetic background. British Journal of Haematology, 111, 461-466.
-
(2000)
British Journal of Haematology
, vol.111
, pp. 461-466
-
-
Perrotta, S.1
Cappellini, M.D.2
Bertoldo, F.3
Servedio, V.4
Iolascon, G.5
D'Agruma, L.6
Gasparini, P.7
Siciliani, M.C.8
Iolascon, A.9
-
49
-
-
0034493507
-
Haemochromatosis in patients with beta-thalassaemia trait
-
Piperno, A., Mariani, R., Arosio, C., Vergani, A., Bosio, S., Fargion, S., Sampietro, M., Girelli, D., Fraquelli, M., Conte, D., Fiorelli, G. & Camaschella, C. (2000) Haemochromatosis in patients with beta-thalassaemia trait. British Journal of Haematology, 111, 908-914.
-
(2000)
British Journal of Haematology
, vol.111
, pp. 908-914
-
-
Piperno, A.1
Mariani, R.2
Arosio, C.3
Vergani, A.4
Bosio, S.5
Fargion, S.6
Sampietro, M.7
Girelli, D.8
Fraquelli, M.9
Conte, D.10
Fiorelli, G.11
Camaschella, C.12
-
50
-
-
0023508467
-
Genetic determinants of bone mass in adults. A twin study
-
Pocock, N.A., Eisman, J.A., Hopper, J.L., Yeates, M.G., Sambrook, P.N. & Eberl, S. (1987) Genetic determinants of bone mass in adults. A twin study. Journal of Clinical Investigation, 80, 706-710.
-
(1987)
Journal of Clinical Investigation
, vol.80
, pp. 706-710
-
-
Pocock, N.A.1
Eisman, J.A.2
Hopper, J.L.3
Yeates, M.G.4
Sambrook, P.N.5
Eberl, S.6
-
51
-
-
0030879355
-
Nontransfusional iron overload in thalassemia: Association with hereditary hemochromatosis
-
Rees, D.C., Luo, L.Y., Thein, S.L., Sing, B.M. & Wickramasinghe, S. (1997) Nontransfusional iron overload in thalassemia: Association with hereditary hemochromatosis. Blood, 90, 3234-3236.
-
(1997)
Blood
, vol.90
, pp. 3234-3236
-
-
Rees, D.C.1
Luo, L.Y.2
Thein, S.L.3
Sing, B.M.4
Wickramasinghe, S.5
-
52
-
-
0026542376
-
Mean corpuscular volume of heterozygotes for β-thalassemia correlates with the severity of mutations
-
Rund, D., Filon, D., Strauss, N., Rachmilewitz, E.A. & Oppenheim, A. (1991) Mean corpuscular volume of heterozygotes for β-thalassemia correlates with the severity of mutations. Blood, 79, 238-243.
-
(1991)
Blood
, vol.79
, pp. 238-243
-
-
Rund, D.1
Filon, D.2
Strauss, N.3
Rachmilewitz, E.A.4
Oppenheim, A.5
-
53
-
-
0030663191
-
The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous beta-thalassaemia and in glucose-6-phosphate
-
Sampietro, M., Lupica, L., Perrero, L., Comino, A. & Martinez di Montemuros, F. (1997) The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous beta-thalassaemia and in glucose-6-phosphate. British Journal of Haematology, 99, 437-439.
-
(1997)
British Journal of Haematology
, vol.99
, pp. 437-439
-
-
Sampietro, M.1
Lupica, L.2
Perrero, L.3
Comino, A.4
Martinez Di Montemuros, F.5
-
54
-
-
0013868614
-
A new genetic variant of β-thalassaemia
-
Schokker, R.C., Went, L.N. & Bok, J. (1966) A new genetic variant of β-thalassaemia. Nature, 209, 44-46.
-
(1966)
Nature
, vol.209
, pp. 44-46
-
-
Schokker, R.C.1
Went, L.N.2
Bok, J.3
-
56
-
-
0038803778
-
Erythroid bone marrow activity and red cell hemoglobinization in iron sufficient beta-thalassemia heterozygotes as reflected by soluble transferrin receptor and reticulocyte hemoglobin in content. Correlation with genotypes and Hb A2 levels
-
Skarmoutsou, C., Papassotiriou, I., Traeger-Synodinos, J., Stamou, H., Ladis, V., Metaxotou-Mavrommati, A., Stamoulakatou, A. & Kanavakis, E. (2003) Erythroid bone marrow activity and red cell hemoglobinization in iron sufficient beta-thalassemia heterozygotes as reflected by soluble transferrin receptor and reticulocyte hemoglobin in content. Correlation with genotypes and Hb A2 levels. Haematologica, 88, 631-636.
-
(2003)
Haematologica
, vol.88
, pp. 631-636
-
-
Skarmoutsou, C.1
Papassotiriou, I.2
Traeger-Synodinos, J.3
Stamou, H.4
Ladis, V.5
Metaxotou-Mavrommati, A.6
Stamoulakatou, A.7
Kanavakis, E.8
-
57
-
-
0025812532
-
Genetic determinants of bone mass in adult women: A re-evaluation of the twin model and the potential importance of gene interaction on heritability estimates
-
Slemenda, C.W., Christian, J.C., Williams, C.J., Norton, J.A. & Johnston Jr, C.C. (1991) Genetic determinants of bone mass in adult women: a re-evaluation of the twin model and the potential importance of gene interaction on heritability estimates. Journal of Bone and Mineral Research, 6, 561-567.
-
(1991)
Journal of Bone and Mineral Research
, vol.6
, pp. 561-567
-
-
Slemenda, C.W.1
Christian, J.C.2
Williams, C.J.3
Norton, J.A.4
Johnston Jr., C.C.5
-
58
-
-
0028201047
-
Family history of osteoporosis and bone mineral density at the axial skeleton: The Rancho Bernardo Study
-
Soroko, S.B., Barrett-Connor, E., Edelstein, S.L. & Kritz-Silverstein, D. (1994) Family history of osteoporosis and bone mineral density at the axial skeleton: the Rancho Bernardo Study. Journal of Bone and Mineral Research, 9, 761-769.
-
(1994)
Journal of Bone and Mineral Research
, vol.9
, pp. 761-769
-
-
Soroko, S.B.1
Barrett-Connor, E.2
Edelstein, S.L.3
Kritz-Silverstein, D.4
-
59
-
-
0026514523
-
Dominant beta thalassaemia: Molecular basis and pathophysiology
-
Thein, S.L. (1992) Dominant beta thalassaemia: molecular basis and pathophysiology. British Journal of Haematology, 80, 273-277.
-
(1992)
British Journal of Haematology
, vol.80
, pp. 273-277
-
-
Thein, S.L.1
-
60
-
-
0032446434
-
Beta thalassaemia
-
ed. by G.P. Rodgers, Baillière Tindall, London
-
Thein, S.L. (1998) Beta thalassaemia. In: Bailliere's Clinical Haematology, Sickle Cell Disease and Thalassaemia (ed. by G.P. Rodgers), Vol. 11:1, pp. 91-126. Baillière Tindall, London.
-
(1998)
Bailliere's Clinical Haematology, Sickle Cell Disease and Thalassaemia
, vol.11
, Issue.1
, pp. 91-126
-
-
Thein, S.L.1
-
61
-
-
0032709384
-
Is it dominantly inherited beta thalassaemia or just a beta-chain variant that is highly unstable?
-
Thein, S.L. (1999) Is it dominantly inherited beta thalassaemia or just a beta-chain variant that is highly unstable? British Journal of Haematology, 107, 12-21.
-
(1999)
British Journal of Haematology
, vol.107
, pp. 12-21
-
-
Thein, S.L.1
-
62
-
-
0002239451
-
Structural variants with a beta-thalassemia phenotype
-
ed. by M.H. Steinberg, B.C. Forget, D.R. Higgs & R.L. Nagel, Cambridge University Press, Cambridge, UK
-
Thein, S.L. (2001) Structural variants with a beta-thalassemia phenotype. In: Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management (ed. by M.H. Steinberg, B.C. Forget, D.R. Higgs & R.L. Nagel), pp. 342-355. Cambridge University Press, Cambridge, UK.
-
(2001)
Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management
, pp. 342-355
-
-
Thein, S.L.1
-
63
-
-
0032406849
-
Genetics of Hb F/F cell variance in adults and heterocellular hereditary persistence of fetal hemoglobin
-
Thein, S.L. & Craig, J.E. (1998) Genetics of Hb F/F cell variance in adults and heterocellular hereditary persistence of fetal hemoglobin. Hemoglobin, 22, 401-414.
-
(1998)
Hemoglobin
, vol.22
, pp. 401-414
-
-
Thein, S.L.1
Craig, J.E.2
-
64
-
-
0024780661
-
A non-deletion hereditary persistance of fetal hemoglobin (HPFH) determinant not linked to the beta-globin gene complex
-
ed. by G. Stamatoyannopoulos & A.W. Nienhuis, Alan R Liss, Inc., New York, NY
-
Thein, S.L. & Weatherall, D.J. (1989) A non-deletion hereditary persistance of fetal hemoglobin (HPFH) determinant not linked to the beta-globin gene complex. In: Hemoglobin Switching, Part B: Cellular and Molecular Mechanisms (ed. by G. Stamatoyannopoulos & A.W. Nienhuis), pp. 97-111. Alan R Liss, Inc., New York, NY.
-
(1989)
Hemoglobin Switching, Part B: Cellular and Molecular Mechanisms
, pp. 97-111
-
-
Thein, S.L.1
Weatherall, D.J.2
-
65
-
-
0021324326
-
Thalassaemia intermedia: A new molecular basis
-
Thein, S.L., Al-Hakim, I. & Hoffbrand, A.V. (1984) Thalassaemia intermedia: a new molecular basis. British Journal of Haematology, 56, 333-337.
-
(1984)
British Journal of Haematology
, vol.56
, pp. 333-337
-
-
Thein, S.L.1
Al-Hakim, I.2
Hoffbrand, A.V.3
-
66
-
-
0023158314
-
Association of thalassaemia intermedia with a beta-globin gene haplotype
-
Thein, S.L., Wainscoat, J.S., Sampietro, M., Old, J.M., Cappellini, D., Fiorelli, G., Modell, B. & Weatherall, D.J. (1987) Association of thalassaemia intermedia with a beta-globin gene haplotype. British Journal of Haematology, 65, 367-373.
-
(1987)
British Journal of Haematology
, vol.65
, pp. 367-373
-
-
Thein, S.L.1
Wainscoat, J.S.2
Sampietro, M.3
Old, J.M.4
Cappellini, D.5
Fiorelli, G.6
Modell, B.7
Weatherall, D.J.8
-
67
-
-
0036923833
-
Looping and interaction between hypersensitive sites in the active beta-globin locus
-
Tolhuis, B., Palstra, R.J., Splinter, E., Grosveld, F. & de Laat, W. (2002) Looping and interaction between hypersensitive sites in the active beta-globin locus. Molecular Cell, 10, 1453-1465.
-
(2002)
Molecular Cell
, vol.10
, pp. 1453-1465
-
-
Tolhuis, B.1
Palstra, R.J.2
Splinter, E.3
Grosveld, F.4
De Laat, W.5
-
68
-
-
0029964907
-
The triplicated alpha-globin gene locus in beta-thalassaemia heterozygotes: Clinical, haematological, biosynthetic and molecular studies
-
Traeger-Synodinos, J., Kanavakis, E., Vrettou, C., Maragoudaki, E., Michael, T. & Metaxotou-Mavromati, A. (1996) The triplicated alpha-globin gene locus in beta-thalassaemia heterozygotes: clinical, haematological, biosynthetic and molecular studies. British Journal of Haematology, 95, 467-471.
-
(1996)
British Journal of Haematology
, vol.95
, pp. 467-471
-
-
Traeger-Synodinos, J.1
Kanavakis, E.2
Vrettou, C.3
Maragoudaki, E.4
Michael, T.5
Metaxotou-Mavromati, A.6
-
69
-
-
0023442125
-
A 3'enhancer contributes to the stage-specific expression of the human β-globin gene
-
Trudel, M. & Costantini, F. (1987) A 3'enhancer contributes to the stage-specific expression of the human β-globin gene. Genes and Development, 1, 954-961.
-
(1987)
Genes and Development
, vol.1
, pp. 954-961
-
-
Trudel, M.1
Costantini, F.2
-
70
-
-
18244385279
-
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy
-
Viprakasit, V., Gibbons, R.J., Broughton, B.C., Tolmie, J.L., Brown, D., Lunt, P., Winter, R.M., Marinoni, S., Stefanini, M., Brueton, L., Lehmann, A.R. & Higgs, D.R. (2001) Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. Human Molecular Genetics, 10, 2797-2802.
-
(2001)
Human Molecular Genetics
, vol.10
, pp. 2797-2802
-
-
Viprakasit, V.1
Gibbons, R.J.2
Broughton, B.C.3
Tolmie, J.L.4
Brown, D.5
Lunt, P.6
Winter, R.M.7
Marinoni, S.8
Stefanini, M.9
Brueton, L.10
Lehmann, A.R.11
Higgs, D.R.12
-
72
-
-
0015881811
-
A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia
-
Weatherall, D.J., Clegg, J.B., Knox-Macaulay, H.H.M., Bunch, C., Hopkins, C.R. & Temperley, I.J. (1973) A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia. British Journal of Haematology, 24, 681-702.
-
(1973)
British Journal of Haematology
, vol.24
, pp. 681-702
-
-
Weatherall, D.J.1
Clegg, J.B.2
Knox-Macaulay, H.H.M.3
Bunch, C.4
Hopkins, C.R.5
Temperley, I.J.6
-
73
-
-
0023601968
-
Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA
-
Wong, C., Dowling, C.E., Saiki, R.K., Higuchi, R.G., Erlich, H.A. & Kazazian, H.H.J. (1987) Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA. Nature, 330, 384-386.
-
(1987)
Nature
, vol.330
, pp. 384-386
-
-
Wong, C.1
Dowling, C.E.2
Saiki, R.K.3
Higuchi, R.G.4
Erlich, H.A.5
Kazazian, H.H.J.6
-
74
-
-
0032411621
-
Bone disease in beta-thalassaemia major
-
Wonke, B. (1998) Bone disease in beta-thalassaemia major. British Journal of Haematology, 103, 897-901.
-
(1998)
British Journal of Haematology
, vol.103
, pp. 897-901
-
-
Wonke, B.1
-
75
-
-
0000053102
-
Hereditary persistence of fetal hemoglobin and delta beta thalassemia
-
ed. by M.H. Steinberg, B.C. Forget, D.R. Higgs & R.L. Nagel, Cambridge University Press, Cambridge, UK
-
Wood, W.G. (2001) Hereditary persistence of fetal hemoglobin and delta beta thalassemia. In: Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management (ed. by M.H. Steinberg, B.C. Forget, D.R. Higgs & R.L. Nagel), pp. 356-388. Cambridge University Press, Cambridge, UK.
-
(2001)
Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management
, pp. 356-388
-
-
Wood, W.G.1
-
76
-
-
0037105495
-
X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction
-
Yu, C., Niakan, K.K., Matsushita, M., Stamatoyannopoulos, G., Orkin, S.H. & Raskind, W.H. (2002) X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood, 100, 2040-2045.
-
(2002)
Blood
, vol.100
, pp. 2040-2045
-
-
Yu, C.1
Niakan, K.K.2
Matsushita, M.3
Stamatoyannopoulos, G.4
Orkin, S.H.5
Raskind, W.H.6
|