-
1
-
-
69749110598
-
Alpha and beta thalassemia
-
Muncie HL, Campbell J Alpha and beta thalassemia. Am Fam Physician 2009, 80(4):339-344.
-
(2009)
Am Fam Physician
, vol.80
, Issue.4
, pp. 339-344
-
-
Muncie, H.L.1
Campbell, J.2
-
2
-
-
0030920808
-
The thalassaemias
-
Weatherall DJ The thalassaemias. Br Med J 1997, 314(7095):1675-1678.
-
(1997)
Br Med J
, vol.314
, Issue.7095
, pp. 1675-1678
-
-
Weatherall, D.J.1
-
3
-
-
0037305250
-
Hemoglobin H disease: not necessarily a benign disorder
-
Chui DH, Fucharoen S, Chan V Hemoglobin H disease: not necessarily a benign disorder. Blood 2003, 101(3):791-800.
-
(2003)
Blood
, vol.101
, Issue.3
, pp. 791-800
-
-
Chui, D.H.1
Fucharoen, S.2
Chan, V.3
-
4
-
-
0032055871
-
Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem
-
Chui DH, Waye JS Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. Blood 1998, 91(7):2213-2222.
-
(1998)
Blood
, vol.91
, Issue.7
, pp. 2213-2222
-
-
Chui, D.H.1
Waye, J.S.2
-
5
-
-
0033536288
-
The beta-thalassemias
-
Olivieri NF The beta-thalassemias. N Engl J Med 1999, 341(2):99-109.
-
(1999)
N Engl J Med
, vol.341
, Issue.2
, pp. 99-109
-
-
Olivieri, N.F.1
-
6
-
-
33846045774
-
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update
-
Giardine B, van Baal S, Kaimakis P, et al. HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat 2007, 28(2):206.
-
(2007)
Hum Mutat
, vol.28
, Issue.2
, pp. 206
-
-
Giardine, B.1
van Baal, S.2
Kaimakis, P.3
-
7
-
-
0031896657
-
Access to a syllabus of human hemoglobin variants (1996) via the World Wide Web
-
Hardison RC, Chui DH, Riemer CR, et al. Access to a syllabus of human hemoglobin variants (1996) via the World Wide Web. Hemoglobin 1998, 22(2):113-127.
-
(1998)
Hemoglobin
, vol.22
, Issue.2
, pp. 113-127
-
-
Hardison, R.C.1
Chui, D.H.2
Riemer, C.R.3
-
12
-
-
29744468347
-
Changing patterns of thalassemia worldwide
-
Vichinsky EP Changing patterns of thalassemia worldwide. Ann N Y Acad Sci 2005, 1054:18-24.
-
(2005)
Ann N Y Acad Sci
, vol.1054
, pp. 18-24
-
-
Vichinsky, E.P.1
-
13
-
-
70349315028
-
Variable clinical phenotypes of alpha-thalassemia syndromes
-
Singer ST Variable clinical phenotypes of alpha-thalassemia syndromes. ScientificWorldJournal 2009, 9:615-625.
-
(2009)
ScientificWorldJournal
, vol.9
, pp. 615-625
-
-
Singer, S.T.1
-
14
-
-
77955914916
-
Complexity of alpha thalassemia: growing health problem with new approaches to screening, diagnosis, and therapy
-
Vichinsky E Complexity of alpha thalassemia: growing health problem with new approaches to screening, diagnosis, and therapy. Ann N Y Acad Sci 2010, 1202:180-187.
-
(2010)
Ann N Y Acad Sci
, vol.1202
, pp. 180-187
-
-
Vichinsky, E.1
-
16
-
-
0036190154
-
HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
-
Hardison RC, Chui DH, 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.
-
(2002)
Hum Mutat
, vol.19
, Issue.3
, pp. 225-233
-
-
Hardison, R.C.1
Chui, D.H.2
Giardine, B.3
-
17
-
-
0025279092
-
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes
-
Wilkie AO, Buckle VJ, Harris PC, et al. Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. Am J Hum Genet 1990, 46(6):1112-1126.
-
(1990)
I. Cases due to deletions involving chromosome band 16p13.3. Am J Hum Genet
, vol.46
, Issue.6
, pp. 1112-1126
-
-
Wilkie, A.O.1
Buckle, V.J.2
Harris, P.C.3
-
18
-
-
0025322541
-
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes
-
Wilkie AO, Zeitlin HC, Lindenbaum RH, et al. Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. Am J Hum Genet 1990, 46(6):1127-1140.
-
(1990)
II. Cases without detectable abnormality of the alpha globin complex. Am J Hum Genet
, vol.46
, Issue.6
, pp. 1127-1140
-
-
Wilkie, A.O.1
Zeitlin, H.C.2
Lindenbaum, R.H.3
-
19
-
-
11244252826
-
Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies
-
Steensma DP, Gibbons RJ, Higgs DR Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies. Blood 2005, 105(2):443-452.
-
(2005)
Blood
, vol.105
, Issue.2
, pp. 443-452
-
-
Steensma, D.P.1
Gibbons, R.J.2
Higgs, D.R.3
-
20
-
-
79951553407
-
Optimal management of beta thalassaemia intermedia
-
Taher AT, Musallam KM, Cappellini MD, Weatherall DJ Optimal management of beta thalassaemia intermedia. Br J Haematol 2011, 152(5):512-523.
-
(2011)
Br J Haematol
, vol.152
, Issue.5
, pp. 512-523
-
-
Taher, A.T.1
Musallam, K.M.2
Cappellini, M.D.3
Weatherall, D.J.4
-
21
-
-
18244385279
-
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy
-
Viprakasit V, Gibbons RJ, Broughton BC, et al. Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. Hum Mol Genet 2001, 10(24):2797-2802.
-
(2001)
Hum Mol Genet
, vol.10
, Issue.24
, pp. 2797-2802
-
-
Viprakasit, V.1
Gibbons, R.J.2
Broughton, B.C.3
-
22
-
-
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 KK, Matsushita M, Stamatoyannopoulos G, Orkin SH, Raskind WH X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood 2002, 100(6):2040-2045.
-
(2002)
Blood
, vol.100
, Issue.6
, pp. 2040-2045
-
-
Yu, C.1
Niakan, K.K.2
Matsushita, M.3
Stamatoyannopoulos, G.4
Orkin, S.H.5
Raskind, W.H.6
-
23
-
-
70449719115
-
Amelioration of Sardinian beta0 thalassemia by genetic modifiers
-
Galanello R, Sanna S, Perseu L, et al. Amelioration of Sardinian beta0 thalassemia by genetic modifiers. Blood 2009, 114(18):3935-3937.
-
(2009)
Blood
, vol.114
, Issue.18
, pp. 3935-3937
-
-
Galanello, R.1
Sanna, S.2
Perseu, L.3
-
24
-
-
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, et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A 2008, 105(5):1620-1625.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, Issue.5
, pp. 1620-1625
-
-
Uda, M.1
Galanello, R.2
Sanna, S.3
-
25
-
-
80355125807
-
Variants in genetic modifiers of beta-thalassemia can help to predict the major or intermedia type of the disease
-
Badens C, Joly P, Agouti I, et al. Variants in genetic modifiers of beta-thalassemia can help to predict the major or intermedia type of the disease. Haematologica 2011, 96(11):1712-1714.
-
(2011)
Haematologica
, vol.96
, Issue.11
, pp. 1712-1714
-
-
Badens, C.1
Joly, P.2
Agouti, I.3
-
27
-
-
77949274495
-
A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E
-
Nuinoon M, Makarasara W, Mushiroda T, et al. A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. Hum Genet 2010, 127(3):303-314.
-
(2010)
Hum Genet
, vol.127
, Issue.3
, pp. 303-314
-
-
Nuinoon, M.1
Makarasara, W.2
Mushiroda, T.3
-
28
-
-
0035676442
-
Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia
-
Galanello R, Piras S, Barella S, et al. Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia. Br J Haematol 2001, 115(4):926-928.
-
(2001)
Br J Haematol
, vol.115
, Issue.4
, pp. 926-928
-
-
Galanello, R.1
Piras, S.2
Barella, S.3
-
29
-
-
34547218007
-
Age-related changes in adaptation to severe anemia in childhood in developing countries
-
O'Donnell A, Premawardhena A, Arambepola M, et al. Age-related changes in adaptation to severe anemia in childhood in developing countries. Proc Natl Acad Sci U S A 2007, 104(22):9440-9444.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, Issue.22
, pp. 9440-9444
-
-
O'Donnell, A.1
Premawardhena, A.2
Arambepola, M.3
-
30
-
-
40449120277
-
Association between promoter and coding region mutations of UDP-glucuronosyltransferase 1A1 and beta-thalassemia/Hb E with cholelithiasis
-
Tankanitlert J, Morales NP, Fucharoen P, Fucharoen S, Chantharaksri U Association between promoter and coding region mutations of UDP-glucuronosyltransferase 1A1 and beta-thalassemia/Hb E with cholelithiasis. Eur J Haematol 2008, 80(4):351-355.
-
(2008)
Eur J Haematol
, vol.80
, Issue.4
, pp. 351-355
-
-
Tankanitlert, J.1
Morales, N.P.2
Fucharoen, P.3
Fucharoen, S.4
Chantharaksri, U.5
-
31
-
-
0019194509
-
A new genetic basis for hemoglobin-H disease
-
Pressley L, Higgs DR, Clegg JB, Perrine RP, Pembrey ME, Weatherall DJ A new genetic basis for hemoglobin-H disease. N Engl J Med 1980, 303(24):1383-1388.
-
(1980)
N Engl J Med
, vol.303
, Issue.24
, pp. 1383-1388
-
-
Pressley, L.1
Higgs, D.R.2
Clegg, J.B.3
Perrine, R.P.4
Pembrey, M.E.5
Weatherall, D.J.6
|