-
1
-
-
0025118721
-
2 in patients with different b-thalassemia mutations and a d chain variant
-
2 in patients with different b-thalassemia mutations and a d chain variant. Blood, 76, 1246-1249.
-
(1990)
Blood
, vol.76
, pp. 1246-1249
-
-
Codrington, J.F.1
Li, H.-W.2
Kutlar, F.3
Gu, L.-H.4
Ramachandran, M.5
Huisman, T.H.J.6
-
2
-
-
0027196282
-
Characterization of the DNase I hypersensitive site 3′ of the human beta globin gene domain
-
Fleenor, E.F. & Kaufman, R.E. (1993) Characterization of the DNase I hypersensitive site 3′ of the human beta globin gene domain. Blood, 10, 2781-2790.
-
(1993)
Blood
, vol.10
, pp. 2781-2790
-
-
Fleenor, E.F.1
Kaufman, R.E.2
-
3
-
-
79955918940
-
The normal structure and regulation of human globin gene clusters
-
2nd edn (ed. by M.H. Steinberg, B.G. Forget, D.R. Higgs & D.J. Weatherall). Cambridge University Press, New York, USA.
-
Forget, B.G. & Hardison, R.C. (2009) The normal structure and regulation of human globin gene clusters. In: Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management, 2nd edn (ed. by M.H. Steinberg, B.G. Forget, D.R. Higgs & D.J. Weatherall), pp. 46-61. Cambridge University Press, New York, USA.
-
(2009)
Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management
, pp. 46-61
-
-
Forget, B.G.1
Hardison, R.C.2
-
4
-
-
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. (2000) 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
-
5
-
-
33645127519
-
Allelic recombination and de novo deletions in sperm in the human beta-globin gene region
-
Holloway, K., Lawson, V.E. & Jeffreys, A.J. (2006) Allelic recombination and de novo deletions in sperm in the human beta-globin gene region. Human Molecular Genetics, 15, 1099-1111.
-
(2006)
Human Molecular Genetics
, vol.15
, pp. 1099-1111
-
-
Holloway, K.1
Lawson, V.E.2
Jeffreys, A.J.3
-
6
-
-
0030608774
-
Levels of Hb A2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter
-
Huisman, T.H. (1997) Levels of Hb A2 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.1
-
7
-
-
34748864128
-
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15
-
Menzel, S., Garner, C., Gut, I., Matsuda, F., Yamaguchi, M., Heath, S., Foglio, M., Zelenika, D., Boland, A., Rooks, H., Best, S., Spector, T.D., Farrall, M., Lathrop, M. & Thein, S.L. (2007a) A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nature Genetics, 39, 1197-1199.
-
(2007)
Nature Genetics
, vol.39
, pp. 1197-1199
-
-
Menzel, S.1
Garner, C.2
Gut, I.3
Matsuda, F.4
Yamaguchi, M.5
Heath, S.6
Foglio, M.7
Zelenika, D.8
Boland, A.9
Rooks, H.10
Best, S.11
Spector, T.D.12
Farrall, M.13
Lathrop, M.14
Thein, S.L.15
-
8
-
-
36348999843
-
The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans
-
Menzel, S., Jiang, J., Silver, N., Gallagher, J., Cunningham, J., Surdulescu, G., Lathrop, M., Farrall, M., Spector, T.D. & Thein, S.L. (2007b) The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans. Blood, 110, 3624-3626.
-
(2007)
Blood
, vol.110
, pp. 3624-3626
-
-
Menzel, S.1
Jiang, J.2
Silver, N.3
Gallagher, J.4
Cunningham, J.5
Surdulescu, G.6
Lathrop, M.7
Farrall, M.8
Spector, T.D.9
Thein, S.L.10
-
9
-
-
39049092286
-
Beta-globin regulation and long-range interactions
-
Palstra, R.J., de Laat, W. & Grosveld, F. (2008) Beta-globin regulation and long-range interactions. Advances in Genetics, 61, 107-142.
-
(2008)
Advances in Genetics
, vol.61
, pp. 107-142
-
-
Palstra, R.J.1
de Laat, W.2
Grosveld, F.3
-
10
-
-
80054845638
-
KLF1 gene mutations cause borderline HbA2
-
Perseu, L., Satta, S., Moi, P., Demartis, F.R., Manunza, L., Sollaino, M.C., Barella, S., Cao, A. & Galanello, R. (2011) KLF1 gene mutations cause borderline HbA2. Blood, 118, 4454-4458.
-
(2011)
Blood
, vol.118
, pp. 4454-4458
-
-
Perseu, L.1
Satta, S.2
Moi, P.3
Demartis, F.R.4
Manunza, L.5
Sollaino, M.C.6
Barella, S.7
Cao, A.8
Galanello, R.9
-
11
-
-
70350644759
-
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium
-
Soranzo, N., Spector, T.D., Mangino, M., Kuhnel, B., Rendon, A., Teumer, A., Willenborg, C., Wright, B., Chen, L., Li, M., Salo, P., Voight, B.F., Burns, P., Laskowski, R.A., Xue, Y., Menzel, S., Altshuler, D., Bradley, J.R., Bumpstead, S., Burnett, M.S., Devaney, J., Doring, A., Elosua, R., Epstein, S.E., Erber, W., Falchi, M., Garner, S.F., Ghori, M.J., Goodall, A.H., Gwilliam, R., Hakonarson, H.H., Hall, A.S., Hammond, N., Hengstenberg, C., Illig, T., Konig, I.R., Knouff, C.W., McPherson, R., Melander, O., Mooser, V., Nauck, M., Nieminen, M.S., O'Donnell, C.J., Peltonen, L., Potter, S.C., Prokisch, H., Rader, D.J., Rice, C.M., Roberts, R., Salomaa, V., Sambrook, J., Schreiber, S., Schunkert, H., Schwartz, S.M., Serbanovic-Canic, J., Sinisalo, J., Siscovick, D.S., Stark, K., Surakka, I., Stephens, J., Thompson, J.R., Volker, U., Volzke, H., Watkins, N.A., Wells, G.A., Wichmann, H.E., Van Heel, D.A., Tyler-Smith, C., Thein, S.L., Kathiresan, S., Perola, M., Reilly, M.P., Stewart, A.F., Erdmann, J., Samani, N.J., Meisinger, C., Greinacher, A., Deloukas, P., Ouwehand, W.H. & Gieger, C. (2009) A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nature Genetics, 41, 1182-1190.
-
(2009)
Nature Genetics
, vol.41
, pp. 1182-1190
-
-
Soranzo, N.1
Spector, T.D.2
Mangino, M.3
Kuhnel, B.4
Rendon, A.5
Teumer, A.6
Willenborg, C.7
Wright, B.8
Chen, L.9
Li, M.10
Salo, P.11
Voight, B.F.12
Burns, P.13
Laskowski, R.A.14
Xue, Y.15
Menzel, S.16
Altshuler, D.17
Bradley, J.R.18
Bumpstead, S.19
Burnett, M.S.20
Devaney, J.21
Doring, A.22
Elosua, R.23
Epstein, S.E.24
Erber, W.25
Falchi, M.26
Garner, S.F.27
Ghori, M.J.28
Goodall, A.H.29
Gwilliam, R.30
Hakonarson, H.H.31
Hall, A.S.32
Hammond, N.33
Hengstenberg, C.34
Illig, T.35
Konig, I.R.36
Knouff, C.W.37
McPherson, R.38
Melander, O.39
Mooser, V.40
Nauck, M.41
Nieminen, M.S.42
O'Donnell, C.J.43
Peltonen, L.44
Potter, S.C.45
Prokisch, H.46
Rader, D.J.47
Rice, C.M.48
Roberts, R.49
Salomaa, V.50
Sambrook, J.51
Schreiber, S.52
Schunkert, H.53
Schwartz, S.M.54
Serbanovic-Canic, J.55
Sinisalo, J.56
Siscovick, D.S.57
Stark, K.58
Surakka, I.59
Stephens, J.60
Thompson, J.R.61
Volker, U.62
Volzke, H.63
Watkins, N.A.64
Wells, G.A.65
Wichmann, H.E.66
Van Heel, D.A.67
Tyler-Smith, C.68
Thein, S.L.69
Kathiresan, S.70
Perola, M.71
Reilly, M.P.72
Stewart, A.F.73
Erdmann, J.74
Samani, N.J.75
Meisinger, C.76
Greinacher, A.77
Deloukas, P.78
Ouwehand, W.H.79
Gieger, C.80
more..
-
12
-
-
79960134705
-
Hemoglobins of the embryo, fetus, and adult
-
2nd edn (ed. by M.H. Steinberg, B.G. Forget, D.R. Higgs & D.J. Weatherall). Cambridge University Press, New York, USA.
-
Steinberg, M.H. & Nagel, R.L. (2009) Hemoglobins of the embryo, fetus, and adult. In: Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management, 2nd edn (ed. by M.H. Steinberg, B.G. Forget, D.R. Higgs & D.J. Weatherall), pp. 119-135. Cambridge University Press, New York, USA.
-
(2009)
Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management
, pp. 119-135
-
-
Steinberg, M.H.1
Nagel, R.L.2
-
13
-
-
34547450531
-
Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults
-
Thein, S.L., Menzel, S., Peng, X., Best, S., Jiang, J., Close, J., Silver, N., Gerovasilli, A., Ping, C., Yamaguchi, M., Wahlberg, K., Ulug, P., Spector, T.D., Garner, C., Matsuda, F., Farrall, M. & Lathrop, M. (2007) Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. Proceedings of the National Academy of Sciences of the USA, 104, 11346-11351.
-
(2007)
Proceedings of the National Academy of Sciences of the USA
, vol.104
, pp. 11346-11351
-
-
Thein, S.L.1
Menzel, S.2
Peng, X.3
Best, S.4
Jiang, J.5
Close, J.6
Silver, N.7
Gerovasilli, A.8
Ping, C.9
Yamaguchi, M.10
Wahlberg, K.11
Ulug, P.12
Spector, T.D.13
Garner, C.14
Matsuda, F.15
Farrall, M.16
Lathrop, M.17
-
14
-
-
40349092939
-
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia
-
Uda, M., Galanello, R., Sanna, S., Lettre, G., Sankaran, V.G., Chen, W., Usala, G., Busonero, F., Maschio, A., Albai, G., Piras, M.G., Sestu, N., Lai, S., Dei, M., Mulas, A., Crisponi, L., Naitza, S., Asunis, I., Deiana, M., Nagaraja, R., Perseu, L., Satta, S., Cipollina, M.D., Sollaino, C., Moi, P., Hirschhorn, J.N., Orkin, S.H., Abecasis, G.R., Schlessinger, D. & Cao, A. (2008) Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proceedings of the National Academy of Sciences of the USA, 105, 1620-1625.
-
(2008)
Proceedings of the National Academy of Sciences of the USA
, vol.105
, pp. 1620-1625
-
-
Uda, M.1
Galanello, R.2
Sanna, S.3
Lettre, G.4
Sankaran, V.G.5
Chen, W.6
Usala, G.7
Busonero, F.8
Maschio, A.9
Albai, G.10
Piras, M.G.11
Sestu, N.12
Lai, S.13
Dei, M.14
Mulas, A.15
Crisponi, L.16
Naitza, S.17
Asunis, I.18
Deiana, M.19
Nagaraja, R.20
Perseu, L.21
Satta, S.22
Cipollina, M.D.23
Sollaino, C.24
Moi, P.25
Hirschhorn, J.N.26
Orkin, S.H.27
Abecasis, G.R.28
Schlessinger, D.29
Cao, A.30
more..
-
16
-
-
0037089318
-
Fetal and adult hemoglobin production during adult erythropoiesis: coordinate expression correlates with cell proliferation
-
Wojda, U., Noel, P. & Miller, J.L. (2002) Fetal and adult hemoglobin production during adult erythropoiesis: coordinate expression correlates with cell proliferation. Blood, 99, 3005-3013.
-
(2002)
Blood
, vol.99
, pp. 3005-3013
-
-
Wojda, U.1
Noel, P.2
Miller, J.L.3
|