-
1
-
-
72049100905
-
Developmental genetics of human haemoglobin
-
Stamatoyannopoulos G, Nienhuis AW, Eds. New York: Liss
-
Weatherall DJ, Wood WG, Jones RW, Clegg JB. Developmental genetics of human haemoglobin. In: Stamatoyannopoulos G, Nienhuis AW, Eds. Experimental Approaches for the Study of Haemoglobin Switching. New York: Liss. 1985;3-35.
-
(1985)
Experimental Approaches for the Study of Haemoglobin Switching
, pp. 3-35
-
-
Weatherall, D.J.1
Wood, W.G.2
Jones, R.W.3
Clegg, J.B.4
-
2
-
-
0036190154
-
HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
-
Hardison RC, Chui DHK, Giardine B, et al. HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225-233 (http://globin.cse.psu.edu).
-
(2002)
Hum Mutat.
, vol.19
, Issue.3
, pp. 225-233
-
-
Hardison, R.C.1
Chui, D.H.K.2
Giardine, B.3
-
3
-
-
0347125141
-
Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies
-
Database Issue
-
Patrinos GP, Giardine B, Riemer C, et al. 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-D541 (http://globin.cse.psu.edu).
-
(2004)
Nucleic Acids Res.
, vol.32
-
-
Patrinos, G.P.1
Giardine, B.2
Riemer, C.3
-
4
-
-
0000053102
-
Hereditay Persistence of Fetal Haemoglobin and Db Thalassaemia
-
Steinberg MH, Forget BG, Higgs DR, Nagel RL, Eds. Cambridge: Cambridge University Press
-
Wood WG. Hereditay persistence of fetal haemoglobin and db thalassaemia. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, Eds. Disorders of Haemoglobin. Cambridge: Cambridge University Press. 2001;356-388.
-
(2001)
Disorders of Haemoglobin
, pp. 356-388
-
-
Wood, W.G.1
-
6
-
-
0023798583
-
Molecular analysis of Japanese db-thalassemia
-
Shiokawa S, Yamada H, Takihara Y, et al. Molecular analysis of Japanese db-thalassemia. Blood. 1988;72(5):1771-1776.
-
(1988)
Blood
, vol.72
, Issue.5
, pp. 1771-1776
-
-
Shiokawa, S.1
Yamada, H.2
Takihara, Y.3
-
7
-
-
57749096271
-
Molecular mechanisms underlying thalassaemia intermedia in Iran
-
Neishabury M, Azarkeivan A, Oberkanins C, Esteghamat F, Amirizadeh N, Najmabadi H. Molecular mechanisms underlying thalassaemia intermedia in Iran. Genet Test. 2008;12(4):549-556.
-
(2008)
Genet Test.
, vol.12
, Issue.4
, pp. 549-556
-
-
Neishabury, M.1
Azarkeivan, A.2
Oberkanins, C.3
Esteghamat, F.4
Amirizadeh, N.5
Najmabadi, H.6
-
8
-
-
0036720532
-
Homozygosity for nondeletion db0 thalassemia resulting in a silent clinical phenotype
-
Galanello R, Barella S, Satta S, Maccioni L, Pintor C, Cao A. Homozygosity for nondeletion db0 thalassemia resulting in a silent clinical phenotype. Blood. 2002;100(5):1913-1914.
-
(2002)
Blood
, vol.100
, Issue.5
, pp. 1913-1914
-
-
Galanello, R.1
Barella, S.2
Satta, S.3
MacCioni, L.4
Pintor, C.5
Cao, A.6
-
9
-
-
20044391420
-
Heterogeneity of the egdb-thalassaemias: Characterisation of three novel English deletions
-
Rooks H, Bergounioux J, Game L, et al. Heterogeneity of the egdb-thalassaemias: Characterisation of three novel English deletions. Br J Haematol. 2005;128(5):722-729.
-
(2005)
Br J Haematol.
, vol.128
, Issue.5
, pp. 722-729
-
-
Rooks, H.1
Bergounioux, J.2
Game, L.3
-
10
-
-
0012953756
-
Gdb-Thalassemia due to a de novo mutation deleting the 5¢ bglobin gene activation-region hypersensitive sites
-
Driscoll M.C, Dobkin CS, Alter BP. gdb-Thalassemia due to a de novo mutation deleting the 5¢ bglobin gene activation-region hypersensitive sites. Proc Natl Acad Sci USA. 1989; 86(19):7470-7474.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, Issue.19
, pp. 7470-7474
-
-
Driscoll, M.C.1
Dobkin, C.S.2
Alter, B.P.3
-
11
-
-
0025223668
-
Molecular and hematological characterization of Scottish-Irish type (eGgAgdb)0 thalassemia
-
Trent RJ, Williams BG, Kearney A, Wilkinson T, Harris PC. Molecular and hematological characterization of Scottish-Irish type (eGgAgdb)0 thalassemia. Blood. 1990;76(10):2132-2138.
-
(1990)
Blood
, vol.76
, Issue.10
, pp. 2132-2138
-
-
Trent, R.J.1
Williams, B.G.2
Kearney, A.3
Wilkinson, T.4
Harris, P.C.5
-
13
-
-
0028214609
-
Rapid detection of deletions causing db thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification
-
Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL. Rapid detection of deletions causing db thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. Blood. 1994;83(6):1673-1682.
-
(1994)
Blood
, vol.83
, Issue.6
, pp. 1673-1682
-
-
Craig, J.E.1
Barnetson, R.A.2
Prior, J.3
Raven, J.L.4
Thein, S.L.5
-
14
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002;30(12):e57.
-
(2002)
Nucleic Acids Res.
, vol.30
, Issue.12
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
15
-
-
29144480573
-
Nine unknown rearrangements in 16p13.3 and 11p15.4 causing a- and b-thalassemia characterized by high resolution multiplex ligation-dependent probe amplification
-
Harteveld CL, Voskamp A, Phylipsen M, et al. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing a- and b-thalassemia characterized by high resolution multiplex ligation-dependent probe amplification. J Med Genet. 2005;42(12):922-931.
-
(2005)
J Med Genet.
, vol.42
, Issue.12
, pp. 922-931
-
-
Harteveld, C.L.1
Voskamp, A.2
Phylipsen, M.3
-
16
-
-
38349016833
-
A novel egdb thalassemia of 1.4 Mb deletion found in a Japanese patient
-
Furuya C, Yamashiro Y, Hattori Y, et al. A novel egdb thalassemia of 1.4 Mb deletion found in a Japanese patient. Am J Hematol. 2008;83(1):84-86.
-
(2008)
Am J Hematol.
, vol.83
, Issue.1
, pp. 84-86
-
-
Furuya, C.1
Yamashiro, Y.2
Hattori, Y.3
-
17
-
-
0022006714
-
DNA sequence variation associated with elevated fetal Gg globin production
-
Gilman JG, Huisman THJ. DNA sequence variation associated with elevated fetal Gg globin production. Blood. 1985;6(4):783-787.
-
(1985)
Blood
, vol.6
, Issue.4
, pp. 783-787
-
-
Gilman, J.G.1
Huisman, T.H.J.2
-
18
-
-
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, et al. A candidate gene study of F cell levels in sibling pairs using a joint linkage and association analysis. GeneScreen. 2000;1(1):9-14.
-
(2000)
Gene Screen.
, vol.1
, Issue.1
, pp. 9-14
-
-
Garner, C.1
Tatu, T.2
Game, L.3
-
19
-
-
34547450531
-
Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults
-
Thein SL, Menzel S, Peng X, et al. Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. Proc Natl Acad Sci USA. 2007;104(27):11346- 11351.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, Issue.27
, pp. 11346-11351
-
-
Thein, S.L.1
Menzel, S.2
Peng, X.3
-
20
-
-
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, et al. A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat Genet. 2007;39(10):1197-1199.
-
(2007)
Nat Genet.
, vol.39
, Issue.10
, pp. 1197-1199
-
-
Menzel, S.1
Garner, C.2
Gut, I.3
-
21
-
-
57849083996
-
Human fotal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A
-
Sankaran VG, Menne TF, Xu J, et al. Human fotal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science. 2008;322(5909):1839-1842.
-
(2008)
Science
, vol.322
, Issue.5909
, pp. 1839-1842
-
-
Sankaran, V.G.1
Menne, T.F.2
Xu, J.3
-
22
-
-
0023550028
-
The deletion in both common types of hereditary persistence of fetal hemoglobin is approximately 105 kilobases
-
Collins FS, Cole JL, Lockwood WK, Iannuzzi MC. The deletion in both common types of hereditary persistence of fetal hemoglobin is approximately 105 kilobases. Blood. 1987;70(6):1797-1803.
-
(1987)
Blood
, vol.70
, Issue.6
, pp. 1797-1803
-
-
Collins, F.S.1
Cole, J.L.2
Lockwood, W.K.3
Iannuzzi, M.C.4
-
23
-
-
0021323996
-
Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the Gg and Ag types of g chain
-
Kutlar A, Gardiner MB, Headlee MG, et al. Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the Gg and Ag types of g chain. Biochem Genet. 1984;22(1-2):21-35.
-
(1984)
Biochem Genet.
, vol.22
, Issue.1-2
, pp. 21-35
-
-
Kutlar, A.1
Gardiner, M.B.2
Headlee, M.G.3
-
24
-
-
0026766022
-
A deletion/inversion rearrangement of the bglobin gene cluster in a Turkish family with db0-thalassemia intermedia
-
Kulozik AE, Bellan-Koch A, Kohne E, Kleihauer E. A deletion/inversion rearrangement of the bglobin gene cluster in a Turkish family with db0-thalassemia intermedia. Blood. 1992;79(9):2455-2459.
-
(1992)
Blood
, vol.79
, Issue.9
, pp. 2455-2459
-
-
Kulozik, A.E.1
Bellan-Koch, A.2
Kohne, E.3
Kleihauer, E.4
-
25
-
-
0020471791
-
Molecular comparison of db thalassemia and hereditary persistence of fetal hemoglobin DNAs: Evidence of a regulatory area?
-
Ottolenghi S, Giglioni B, Taramelli R, et al. Molecular comparison of db thalassemia and hereditary persistence of fetal hemoglobin DNAs: Evidence of a regulatory area? Proc Natl Acad Sci USA. 1982;79(7):2347-2351.
-
(1982)
Proc Natl Acad Sci USA
, vol.79
, Issue.7
, pp. 2347-2351
-
-
Ottolenghi, S.1
Giglioni, B.2
Taramelli, R.3
-
26
-
-
0019769412
-
Restriction mapping of a new deletion responsible for Gg(db)0thalassemia
-
Jones RW, Old JM, Trent RJ, Clegg JB, Weatherall DJ. Restriction mapping of a new deletion responsible for Gg(db)0thalassemia. Nucleic Acids Res. 1981;9(24):6813-6825.
-
(1981)
Nucleic Acids Res.
, vol.9
, Issue.24
, pp. 6813-6825
-
-
Jones, R.W.1
Old, J.M.2
Trent, R.J.3
Clegg, J.B.4
Weatherall, D.J.5
-
27
-
-
0019831871
-
Major rearrangement in the human b-globin gene cluster
-
Jones RW, Old JM, Trent RJ, Clegg JB, Weatherall DJ. Major rearrangement in the human b-globin gene cluster. Nature. 1981;291(5810):39-44.
-
(1981)
Nature
, vol.291
, Issue.5810
, pp. 39-44
-
-
Jones, R.W.1
Old, J.M.2
Trent, R.J.3
Clegg, J.B.4
Weatherall, D.J.5
-
28
-
-
0024330901
-
The DNA deletion in an Indian db-thalassaemia begins one kilobase from the Ag globin gene and ends in an L1 repetitive sequence
-
Mishima N, Landman H, Huisman THJ, Gilman JG. The DNA deletion in an Indian db-thalassaemia begins one kilobase from the Ag globin gene and ends in an L1 repetitive sequence. Br J Haematol. 1989;73(3):375-379.
-
(1989)
Br J Haematol.
, vol.73
, Issue.3
, pp. 375-379
-
-
Mishima, N.1
Landman, H.2
Huisman, T.H.J.3
Gilman, J.G.4
-
29
-
-
0028178488
-
Eastern European (db) 0 thalassemia: Molecular characterization of a novel 9.1 kb deletion resulting in high levels of fetal hemoglobin in the adult
-
Palena A, Blau A, Stamatoyannopoulos G, Anagnou N. Eastern European (db)0 thalassemia: Molecular characterization of a novel 9.1 kb deletion resulting in high levels of fetal hemoglobin in the adult. Blood. 1994; 83(12):3738-3745.
-
(1994)
Blood
, vol.83
, Issue.12
, pp. 3738-3745
-
-
Palena, A.1
Blau, A.2
Stamatoyannopoulos, G.3
Anagnou, N.4
-
30
-
-
0028173486
-
Filipino b-thalassemia due to a large deletion: Identification of the deletion endpoints and polymerase chain reaction (PCR)-based diagnosis
-
Waye JS, Eng B, Hunt JA, Chui D. Filipino b-thalassemia due to a large deletion: Identification of the deletion endpoints and polymerase chain reaction (PCR)-based diagnosis. Hum Genet. 1994; 94(5):530-532.
-
(1994)
Hum Genet.
, vol.94
, Issue.5
, pp. 530-532
-
-
Waye, J.S.1
Eng, B.2
Hunt, J.A.3
Chui, D.4
-
31
-
-
0026928464
-
Australian b0-thalassemia: A high Hb A2 b0-thalassemia due to a 12 kb deletion commencing 5prime; To the b-globin gene
-
Motum PI, Lindeman R, Hamilton TJ, Trent RJ. Australian b0-thalassemia: A high Hb A2 b0-thalassemia due to a 12 kb deletion commencing 5prime; to the b-globin gene. Br J Haematol. 1992;82(1):107-113.
-
(1992)
Br J Haematol.
, vol.82
, Issue.1
, pp. 107-113
-
-
Motum, P.I.1
Lindeman, R.2
Hamilton, T.J.3
Trent, R.J.4
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