-
1
-
-
0031872838
-
Relationship between genotype and phenotype. Thalassemia intermedia
-
Galanello R, Cao A. Relationship between genotype and phenotype. Thalassemia intermedia. Ann N Y Acad Sci 1998;850:325-333
-
(1998)
Ann N Y Acad Sci
, vol.850
, pp. 325-333
-
-
Galanello, R.1
Cao, A.2
-
2
-
-
20344382303
-
Genetic modifiers of b-thalassemia
-
Thein SL. Genetic modifiers of b-thalassemia. Haematologica 2005;90: 649-660
-
(2005)
Haematologica
, vol.90
, pp. 649-660
-
-
Thein, S.L.1
-
3
-
-
40349092939
-
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia
-
DOI 10.1073/pnas.0711566105
-
Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalssemia. Proc Natl Acad Sci USA 2008;105:1620-1625 (Pubitemid 351346564)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.5
, 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..
-
4
-
-
0002239451
-
Structural Variants with a β-thalassemia phenotype
-
Steinberg MH, Forget BG, Higgs DR, Nagel RL, editors. Cambridge, UK: Cambridge University Press, Cambridge, UK.
-
Thein SL. Structural Variants with a β-thalassemia phenotype. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, editors. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge, UK: Cambridge University Press, Cambridge, UK. 2001.p. 342-355
-
(2001)
Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management
, pp. 342-355
-
-
Thein, S.L.1
-
5
-
-
0024637804
-
One form of inclusion body b-thalassemia is due to a GAA→TAA mutation at codon 121 of the β chain
-
Fei YJ, Stoming TA, Kutlar A, Huisman THJ, Stamatoyannopoulos G. One form of inclusion body b-thalassemia is due to a GAA→TAA mutation at codon 121 of the β chain. Blood 1989;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
-
6
-
-
0037065526
-
A novel mechanism for thalassaemia intermedia
-
Badens C, Mattei MG, Imbert AM, Lapoumérouliee C, Martini N, Michel G, et al. A novel mechanism for thalassaemia intermedia. Lancet 2002;359:132-133
-
(2002)
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
-
7
-
-
10344260638
-
Somatic deletion of the normal β-globin gene leading to othalassaemia intermedia in heterozygous β-thalassaemic patients
-
DOI 10.1111/j.1365-2141.2004.05237.x
-
Galanello R, Perseu L, Perra C, Maccioni L, Barella S, Longinotti M, et al. Somatic deletion of the normal β-globin gene leading to thalassemia intermedia in heterozygous β-thalassaemic patients. Br J Haematol 2004; 127:604-606 (Pubitemid 39627186)
-
(2004)
British Journal of Haematology
, vol.127
, Issue.5
, pp. 604-606
-
-
Galanello, R.1
Perseu, L.2
Perra, C.3
Maccioni, L.4
Barella, S.5
Longinotti, M.6
Cao, A.7
Cazzola, M.8
-
8
-
-
0021067375
-
A family with segregating triplicated alpha globin loci and beta thalassemia
-
Galanello R, Ruggeri R, Paglietti E, Addis M, Melis MA, Cao A. A family with segregating triplicated α globin loci and β thalassaemia. Blood 1983;62:1035-1040 (Pubitemid 14237326)
-
(1983)
Blood
, vol.62
, Issue.5
, pp. 1035-1040
-
-
Galanello, R.1
Ruggeri, R.2
Paglietti, E.3
-
9
-
-
0030850053
-
Different hematological phenotypes caused by the interaction of triplicated α-globin genes and heterozygous 13-thalassemia
-
DOI 10.1002/(SICI)1096-8652(199706)55:2<83::AID-AJH6>3.0.CO;2-Z
-
Camaschella C, Kattamis AC, Petroni D, Roetto A, Sivera P, Sbaiz L, et al. Different hematological phenotypes caused by the interaction of triplicated α-globin genes and heterozygous β-thalassaemia. Am J Haematol 1997; 55:83-88 (Pubitemid 27305709)
-
(1997)
American Journal of Hematology
, vol.55
, Issue.2
, 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
-
10
-
-
0029964907
-
The triplicated α-globin gene locus in β-thalassaemia heterozygotes: Clinical, haematological, biosynthetic and molecular studies
-
Traeger-Synodinos J, Kanavakis E, Vrettou C, Maragoudaki E, Michael T, Metaxotou-Mavromati A. The triplicated α-globin gene locus in β-thalassaemia heterozygotes: clinical, haematological, biosynthetic and molecular studies. Br J Haematol 1996;95:467-471 (Pubitemid 26388686)
-
(1996)
British Journal of Haematology
, vol.95
, Issue.3
, pp. 467-471
-
-
Traeger-Synodinos, J.1
Kanavakis, E.2
Vrettou, C.3
Maragoudaki, E.4
Michael, Th.5
Metaxotou-Mavromati, A.6
Kattamis, C.7
-
11
-
-
41949110058
-
Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients
-
Harteveld CL, Refaldi C, Cassinerio E, Cappellini MD, Giordano PC. Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients. Blood Cells Mol Dis 2008;40:312-316
-
(2008)
Blood Cells Mol Dis
, vol.40
, pp. 312-316
-
-
Harteveld, C.L.1
Refaldi, C.2
Cassinerio, E.3
Cappellini, M.D.4
Giordano, P.C.5
-
12
-
-
0021328576
-
2 β-thalassaemia, and single α globin gene deletion causing mild thalassaemia intermedia
-
Galanello R, Maccioni L, Rosatelli C, Ibba P, Nurchi AM, Cao A. A genetic combination of silent β-thalassaemia, high Hb A2 β-thalassaemia, and single α globin gene deletion causing mild thalassaemia intermedia. J Med Genet 1984; 21:153-156 (Pubitemid 14155260)
-
(1984)
Journal of Medical Genetics
, vol.21
, Issue.2
, pp. 153-156
-
-
Galanello, R.1
Maccioni, L.2
Rosatelli, M.C.3
-
13
-
-
0031984585
-
Heterozygous β-thalassemia with thalassemia intermedia phenotype
-
Gasperini D, Perseu L, Melis MA, Maccioni L, Sollaino MC, Paglietti E, et al. Heterozygous β-thalassemia with thalassemia intermedia phenotype. Am J Haematol 1998;57:43-47
-
(1998)
Am J Haematol
, vol.57
, pp. 43-47
-
-
Gasperini, D.1
Perseu, L.2
Melis, M.A.3
Maccioni, L.4
Sollaino, M.C.5
Paglietti, E.6
-
14
-
-
0014598807
-
Globin chain synthesis in the α thalassemia syndrome
-
Kan YW, Schwartz E, Nathan DG. Globin chain synthesis in the α thalassemia syndrome. J Clin Invest 1968;47:2515-2522
-
(1968)
J Clin Invest
, vol.47
, pp. 2515-2522
-
-
Kan, Y.W.1
Schwartz, E.2
Nathan, D.G.3
-
15
-
-
0031724047
-
a-Thalassemia carrier identification by DNA analysis in the screening for thalassemia
-
Galanello R, Sollaino C, Paglietti E, Barella S, Perra C, Doneddu I, et al. a-Thalassemia carrier identification by DNA analysis in the screening for thalassemia. Am J Haematol 1998; 59:273-278 (Pubitemid 28543615)
-
(1998)
American Journal of Hematology
, vol.59
, Issue.4
, pp. 273-278
-
-
Galanello, R.1
Sollaino, C.2
Paglietti, E.3
Barella, S.4
Perra, C.5
Doneddu, I.6
Pirroni, M.G.7
Maccioni, L.8
Cao, A.9
-
16
-
-
29144480573
-
Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- And β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification
-
DOI 10.1136/jmg.2005.033597
-
Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, et al. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet 2005; 42922-42931 (Pubitemid 41811314)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.12
, pp. 922-931
-
-
Harteveld, C.L.1
Voskamp, A.2
Phylipsen, M.3
Akkermans, N.4
Den Dunnen, J.T.5
White, S.J.6
Giordano, P.C.7
-
17
-
-
0024423518
-
A common protein binds to two silencers 5' to the human β-globin gene
-
Berg PE, Williams DM, Qian RL, Cohen RB, Cao SX, Mittelman M, et al. A common protein binds to two silencers 5′ to the human beta-globin gene. Nucleic Acids Res 1989; 17: 8833-8852 (Pubitemid 19273879)
-
(1989)
Nucleic Acids Research
, vol.17
, Issue.21
, pp. 8833-8852
-
-
Berg, P.E.1
Williams, D.M.2
Qian, R.-L.3
Cohen, R.B.4
Cao, S.-X.5
Mittelman, M.6
Schlechter, A.N.7
-
18
-
-
0026723551
-
A β-thalassaemia phenotype not linked to the β-globin cluster in an Italian family
-
Murru S, Loudianos G, Porcu S, Sciarratta GV, Agosti S, Parodi MI, et al. A β-thalassaemia phenotype not linked to the β-globin cluster in an Italian family. Br J Haematol 1992; 81:283-287
-
(1992)
Br J Haematol
, vol.81
, pp. 283-287
-
-
Murru, S.1
Loudianos, G.2
Porcu, S.3
Sciarratta, G.V.4
Agosti, S.5
Parodi, M.I.6
-
19
-
-
0026502027
-
Sequence variations in the 5′ hypersensitive site-2 of the locus control region of β S chromosomes are associated with different levels of fetal globin in hemoglobin S homozygotes
-
Oner C, Dimovski AJ, Altay C, Gurgey A, Gu YC, Huisman TH, et al. Sequence variations in the 5′ hypersensitive site-2 of the locus control region of β S chromosomes are associated with different levels of fetal globin in hemoglobin S homozygotes. Blood 1992;79:813-819
-
(1992)
Blood
, vol.79
, pp. 813-819
-
-
Oner, C.1
Dimovski, A.J.2
Altay, C.3
Gurgey, A.4
Gu, Y.C.5
Huisman, T.H.6
-
20
-
-
0025365230
-
Detailed analysis of the site 3 region of the human β-globin dominant control region
-
Talbot D, Philipsen S, Fraser P, Grosveld F. Detailed analysis of the site 3 region of the human β-globin dominant control region. EMBO J 1990;9:2169-2177 (Pubitemid 20198960)
-
(1990)
EMBO Journal
, vol.9
, Issue.7
, pp. 2169-2177
-
-
Talbot, D.1
Philipsen, S.2
Fraser, P.3
Grosveld, F.4
-
21
-
-
0019949838
-
Linkage of β-thalassemia mutations and α-globin gene polymorphisms with DNA polymorphisms in human α-globin gene cluster
-
Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, et al. Linkage of β-thalassemia mutations and α-globin gene polymorphisms with DNA polymorphisms in human α-globin gene cluster. Nature 1982;296:627-631
-
(1982)
Nature
, vol.296
, pp. 627-631
-
-
Orkin, S.H.1
Kazazian Jr., H.H.2
Antonarakis, S.E.3
Goff, S.C.4
Boehm, C.D.5
Sexton, J.P.6
-
22
-
-
33644908485
-
Thalassaemia-like carriers not linked to the β-globin gene cluster
-
DOI 10.1111/j.1365-2141.2005.05915.x
-
Faà V, Meloni A, Moi L, Ibba G, Travi M, Vitucci A, et al. Thalassaemia-like carriers not linked to the β-globin gene cluster. Br J Haematol 2006; 132:640-650 (Pubitemid 43381600)
-
(2006)
British Journal of Haematology
, vol.132
, Issue.5
, pp. 640-650
-
-
Faa, V.1
Meloni, A.2
Moi, L.3
Ibba, G.4
Travi, M.5
Vitucci, A.6
Cao, A.7
Rosatelli, M.C.8
-
23
-
-
0032406029
-
Phenotype variability of the dominant β-thalassemia induced in four Dutch families by the rare cd121 (G→T) mutation
-
DOI 10.1007/s002770050453
-
Giordano PC, Harteveld CL, Michiels JJ, Terpstra W, Schelfhout LJDM, Appel IM, et al. Phenotype variability of the dominant β-thalassemia induced in four Dutch families by the rare cd121 (G→T) mutation. Ann Hematol 1998;77:249-255. (Pubitemid 29000769)
-
(1998)
Annals of Hematology
, vol.77
, Issue.6
, pp. 249-255
-
-
Giordano, P.C.1
Harteveld, C.L.2
Michiels, J.J.3
Terpstra, W.4
Schelfhout, L.J.D.M.5
Appel, I.M.6
Batelaan, D.7
Van Delft, P.8
Plug, R.J.9
Bernini, L.F.10
-
24
-
-
0031438715
-
Phenotypes of individuals with a β thal classical allele associated either with a β thal silent allele or with a globin gene triplication
-
Bianco I, Lerone M, Foglietta E, Deidda G, Cappabianca MP, Morlupi L, et al. Phenotypes of individuals with a β thal classical allele associated either with a β thal silent allele or with a globin gene triplication. Haematologica 1997;82:513-525 (Pubitemid 28023242)
-
(1997)
Haematologica
, vol.82
, Issue.5
, pp. 513-525
-
-
Bianco, I.1
Lerone, M.2
Foglietta, E.3
Deidda, G.4
Cappabianca, M.P.5
Morlupi, L.6
Ponzini, D.7
Grisanti, P.8
Di Biagio, P.9
Amato, A.10
Mezzabotta, M.11
Graziani, B.12
-
25
-
-
0025787380
-
Interaction of heterozygous β (0)-thalassemia and triplicated α globin loci in a Swiss-Spanish family
-
Beris P, Darbellay R, Hochmann A, Pradervand E, Pugin P. Interaction of heterozygous β (0)-thalassemia and triplicated α globin loci in a Swiss-Spanish family. Klin Wochenschr 1991;69:710-714
-
(1991)
Klin Wochenschr
, vol.69
, pp. 710-714
-
-
Beris, P.1
Darbellay, R.2
Hochmann, A.3
Pradervand, E.4
Pugin, P.5
|