-
1
-
-
0019986656
-
Hemoglobin Parchman: Double crossover within a single human gene
-
Adams JG III, Marrison WT, Steinberg MH (1982) Hemoglobin Parchman: double crossover within a single human gene. Science 218:291-293.
-
(1982)
Science
, vol.218
, pp. 291-293
-
-
Adams, J.G.1
Marrison, W.T.2
Steinberg, M.H.3
-
2
-
-
0018842472
-
Globin chain electrophoresis: A new approach to the determination of the G gamma/A gamma ratio in fetal haemoglobin and to studies of globin synthesis
-
Alter BP, Goff SC, Efremov GD, Gravely ME, Huisman TH (1980) Globin chain electrophoresis: A new approach to the determination of the G gamma/A gamma ratio in fetal haemoglobin and to studies of globin synthesis. Br J Haematol 44:527-534.
-
(1980)
Br J Haematol
, vol.44
, pp. 527-534
-
-
Alter, B.P.1
Goff, S.C.2
Efremov, G.D.3
Gravely, M.E.4
Huisman, T.H.5
-
3
-
-
0019363539
-
Prevention of thalassaemia in Cyprus
-
Angastiniotis MA, Hadjiminas MG (1981) Prevention of thalassaemia in Cyprus. Lancet 1:369-371.
-
(1981)
Lancet
, vol.1
, pp. 369-371
-
-
Angastiniotis, M.A.1
Hadjiminas, M.G.2
-
5
-
-
0020451567
-
Evidence for multiple origins of the beta E-globin gene in Southeast Asia
-
Antonarakis SE, Orkin SH, Kazazian HH Jr, Goff SC, Boehm CD, Waber PG, Sexton JP, Ostrer H, Fairbanks VF, Chakravarti A (1982) Evidence for multiple origins of the beta E-globin gene in Southeast Asia. Proc Natl Acad Sci USA 79:6608-6611.
-
(1982)
Proc Natl Acad Sci USA
, vol.79
, pp. 6608-6611
-
-
Antonarakis, S.E.1
Orkin, S.H.2
Kazazian, H.H.3
Goff, S.C.4
Boehm, C.D.5
Waber, P.G.6
Sexton, J.P.7
Ostrer, H.8
Fairbanks, V.F.9
Chakravarti, A.10
-
6
-
-
0343601382
-
Beta- Thalassemia in American Blacks: Novel mutations in the TATA box and an acceptor splice site
-
Antonarakis SE, Orkin SH, Cheng TC, Scott AF, Sexton JP, Trusko SP, Charache S, Kazazian HH Jr (1984) beta- Thalassemia in American Blacks: Novel mutations in the "TATA" box and an acceptor splice site. Proc Natl Acad Sci USA 81:1154-1158.
-
(1984)
Proc Natl Acad Sci USA
, vol.81
, pp. 1154-1158
-
-
Antonarakis, S.E.1
Orkin, S.H.2
Cheng, T.C.3
Scott, A.F.4
Sexton, J.P.5
Trusko, S.P.6
Charache, S.7
Kazazian, H.H.8
-
7
-
-
0021356075
-
Origin of the beta S -globin gene in blacks: The contribution of recurrent mutation or gene conversion or both
-
Antonarakis SE, Boehm CD, Serjeant GR, Theisen CE, Dover GJ, Kazazian HH Jr (1984) Origin of the beta S -globin gene in blacks: The contribution of recurrent mutation or gene conversion or both. Proc Natl Acad Sci USA 81:853-856.
-
(1984)
Proc Natl Acad Sci USA
, vol.81
, pp. 853-856
-
-
Antonarakis, S.E.1
Boehm, C.D.2
Serjeant, G.R.3
Theisen, C.E.4
Dover, G.J.5
Kazazian, H.H.6
-
8
-
-
0021946139
-
DNA polymorphism and molecular pathology of the human globin gene clusters
-
Antonarakis SE, Kazazian HH Jr, Orkin SH (1985) DNA polymorphism and molecular pathology of the human globin gene clusters. Hum Genet 69:1-14.
-
(1985)
Hum Genet
, vol.69
, pp. 1-14
-
-
Antonarakis, S.E.1
Kazazian, H.H.2
Orkin, S.H.3
-
9
-
-
0023955979
-
The human beta-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 beta-globin gene contains multiple regulatory regions: Identification of one promoter and two downstream enhancers. EMBO J 7:377-384.
-
(1988)
EMBO J
, vol.7
, pp. 377-384
-
-
Antoniou, M.1
DeBoer, E.2
Habets, G.3
Grosveld, F.4
-
10
-
-
0018938850
-
The primary structure of the human epsilon-globin gene
-
Baralle FE, Shoulders CC, Proudfoot NJ (1980) The primary structure of the human epsilon-globin gene. Cell 21:621-626.
-
(1980)
Cell
, vol.21
, pp. 621-626
-
-
Baralle, F.E.1
Shoulders, C.C.2
Proudfoot, N.J.3
-
11
-
-
0017144487
-
Haemoglobins with altered oxygen affinity
-
Bellingham AJ (1976) Haemoglobins with altered oxygen affinity. Br Med Bull 32:234-238.
-
(1976)
Br Med Bull
, vol.32
, pp. 234-238
-
-
Bellingham, A.J.1
-
12
-
-
0032479079
-
Going the distance: A current view of enhancer action
-
Blackwood EM, Kadonaga JT (1998) Going the distance: A current view of enhancer action. Science 281:61-63.
-
(1998)
Science
, vol.281
, pp. 61-63
-
-
Blackwood, E.M.1
Kadonaga, J.T.2
-
13
-
-
0023430030
-
An enhancer element lies 3' to the human A gamma globin gene
-
Bodine D, Ley TJ (1987) An enhancer element lies 3' to the human A gamma globin gene. EMBO J 6:2997-3004.
-
(1987)
EMBO J
, vol.6
, pp. 2997-3004
-
-
Bodine, D.1
Ley, T.J.2
-
14
-
-
0020639235
-
Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia
-
Boehm CD, Antonarakis SE, Phillips JA 3rd, Stetten G, Kazazian HH Jr (1983) Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia. N Engl J Med 308:1054-1058.
-
(1983)
N Engl J Med
, vol.308
, pp. 1054-1058
-
-
Boehm, C.D.1
Antonarakis, S.E.2
Phillips, J.A.3
Stetten, G.4
Kazazian, H.H.5
-
15
-
-
0042237715
-
Hydroxyurea can eliminate transfusion requirements in children with severe beta-thalassemia
-
Bradai M, Abad MT, Pissard S, Lamraoui F, Skopinski L, de Montalembert M (2003) Hydroxyurea can eliminate transfusion requirements in children with severe beta-thalassemia. Blood 102:1529-1530.
-
(2003)
Blood
, vol.102
, pp. 1529-1530
-
-
Bradai, M.1
Abad, M.T.2
Pissard, S.3
Lamraoui, F.4
Skopinski, L.5
De Montalembert, M.6
-
16
-
-
0033215443
-
Looping versus linking: Toward a model for long-distance gene activation
-
Bulger M, Groudine M (1999) Looping versus linking: Toward a model for long-distance gene activation. Genes Dev 13:2465-2477.
-
(1999)
Genes Dev
, vol.13
, pp. 2465-2477
-
-
Bulger, M.1
Groudine, M.2
-
17
-
-
0019778340
-
Beta1thalassemia: Aberrant splicing results from a single point mutation in an intron
-
Busslinger M, Moschonas N, Flavell RA (1981) Beta1thalassemia: Aberrant splicing results from a single point mutation in an intron. Cell 27:289-298.
-
(1981)
Cell
, vol.27
, pp. 289-298
-
-
Busslinger, M.1
Moschonas, N.2
Flavell, R.A.3
-
18
-
-
0036898580
-
Long-range chromatin regulatory interactions in vivo
-
Carter D, Chakalova L, Osborne CS, Dai YF, Fraser P (2002) Long-range chromatin regulatory interactions in vivo. Nat Genet 32:623-626.
-
(2002)
Nat Genet
, vol.32
, pp. 623-626
-
-
Carter, D.1
Chakalova, L.2
Osborne, C.S.3
Dai, Y.F.4
Fraser, P.5
-
19
-
-
0021679717
-
Nonuniform recombination within the human beta-globin gene cluster
-
Chakravarti A, Buetow KH, Antonarakis SE, Waber PG, Boehm CD, Kazazian HH (1984) Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet 36:1239-1258.
-
(1984)
Am J Hum Genet
, vol.36
, pp. 1239-1258
-
-
Chakravarti, A.1
Buetow, K.H.2
Antonarakis, S.E.3
Waber, P.G.4
Boehm, C.D.5
Kazazian, H.H.6
-
20
-
-
34548743476
-
Gene conversion in evolution and disease
-
Chen JM, Cooper DN, Chukalova N, Ferec C, Patrinos GP (2007) Gene conversion in evolution and disease. Nat Rev Genet 8:762-775.
-
(2007)
Nat Rev Genet
, vol.8
, pp. 762-775
-
-
Chen, J.M.1
Cooper, D.N.2
Chukalova, N.3
Ferec, C.4
Patrinos, G.P.5
-
21
-
-
46149098674
-
A T-to-G transversion at nucleotide -567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated hemoglobin F
-
Chen Z, Luo HY, Basran RK, Hsu TH, Mang DW, Nuntakarn L, Rosenfi eld CG, Patrinos GP, Hardison RC, Steinberg MH, Chui DH (2008) A T-to-G transversion at nucleotide -567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated hemoglobin F. Mol Cell Biol 28:4386-4393.
-
(2008)
Mol Cell Biol
, vol.28
, pp. 4386-4393
-
-
Chen, Z.1
Luo, H.Y.2
Basran, R.K.3
Hsu, T.H.4
Mang, D.W.5
Nuntakarn, L.6
Rosenfi, E.C.G.7
Patrinos, G.P.8
Hardison, R.C.9
Steinberg, M.H.10
Chui, D.H.11
-
22
-
-
0037190608
-
Prenatal exclusion of beta thalassaemia major by examination of maternal plasma
-
Chiu RW, Lau TK, Leung TN, Chow KC, Chui DH, Lo YM (2002) Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet 360: 998-1000.
-
(2002)
Lancet
, vol.360
, pp. 998-1000
-
-
Chiu, R.W.1
Lau, T.K.2
Leung, T.N.3
Chow, K.C.4
Chui, D.H.5
Lo, Y.M.6
-
23
-
-
0034639297
-
Non-radioactive Southern hybridization for early diagnosis of alpha-thalassemia with southeast Asian-type deletion in Taiwan
-
Chu DC, Lee CH, Lo MD, Cheng SW, Chen DP, Wu TL, Tsao KC, Chiu DT, Sun CF (2000) Non-radioactive Southern hybridization for early diagnosis of alpha-thalassemia with southeast Asian-type deletion in Taiwan. Am J Med Genet 95:332-335.
-
(2000)
Am J Med Genet
, vol.95
, pp. 332-335
-
-
Chu, D.C.1
Lee, C.H.2
Lo, M.D.3
Cheng, S.W.4
Chen, D.P.5
Wu, T.L.6
Tsao, K.C.7
Chiu, D.T.8
Sun, C.F.9
-
24
-
-
0021733168
-
The molecular genetics of human hemoglobins nucleic acid
-
Collins FS, Weissman SM (1984) The molecular genetics of human hemoglobins nucleic acid. Prog Res Mol Biol 31:315-462.
-
(1984)
Prog Res Mol Biol
, vol.31
, pp. 315-462
-
-
Collins, F.S.1
Weissman, S.M.2
-
25
-
-
0002341637
-
A series of cases of splenomegaly in children with anemia and peculiar bone changes
-
Cooley TB, Lee P (1925) A series of cases of splenomegaly in children with anemia and peculiar bone changes. Trans Am Pediatr Soc 37:29.
-
(1925)
Trans Am Pediatr Soc
, vol.37
, pp. 29
-
-
Cooley, T.B.1
Lee, P.2
-
26
-
-
0030065604
-
Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach
-
Craig JE, Rochette J, Fisher CA, Weatherall DJ, Marc S, Lathrop GM, Demenais F, Thein SL (1996) Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach. Nat Genet 12:58-64.
-
(1996)
Nat Genet
, vol.12
, pp. 58-64
-
-
Craig, J.E.1
Rochette, J.2
Fisher, C.A.3
Weatherall, D.J.4
Marc, S.5
Lathrop, G.M.6
Demenais, F.7
Thein, S.L.8
-
27
-
-
34547210254
-
An overview of current microarraybased human globin gene mutation detection methods
-
Cremonesi L, Ferrari M, Giordano PC, Harteveld CL, Kleanthous M, Papasavva T, Patrinos GP, Traeger- Synodinos J (2007) An overview of current microarraybased human globin gene mutation detection methods. Hemoglobin 31:289-311.
-
(2007)
Hemoglobin
, vol.31
, pp. 289-311
-
-
Cremonesi, L.1
Ferrari, M.2
Giordano, P.C.3
Harteveld, C.L.4
Kleanthous, M.5
Papasavva, T.6
Patrinos, G.P.7
Traeger-Synodinos, J.8
Cremonesi, L.9
Ferrari, M.10
Giordano, P.C.11
Harteveld, C.L.12
Kleanthous, M.13
Papasavva, T.14
Patrinos, G.P.15
Traeger-Synodinos, J.16
-
28
-
-
33744475085
-
A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter
-
De Gobbi M, Viprakasit V, Hughes JR, Fisher C, Buckle VJ, Ayyub H, Gibbons RJ, Vernimmen D, Yoshinaga Y, de Jong P, Cheng JF, Rubin EM, Wood WG, Bowden D, Higgs DR (2006) A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. Science 312:1215-1217.
-
(2006)
Science
, vol.312
, pp. 1215-1217
-
-
De Gobbi, M.1
Viprakasit, V.2
Hughes, J.R.3
Fisher, C.4
Buckle, V.J.5
Ayyub, H.6
Gibbons, R.J.7
Vernimmen, D.8
Yoshinaga, Y.9
De Jong, P.10
Cheng, J.F.11
Rubin, E.M.12
Wood, W.G.13
Bowden, D.14
Higgs, D.R.15
-
30
-
-
0036625004
-
Maintenance of elevated fetal hemoglobin levels by decitabine during dose interval treatment of sickle cell anemia
-
DeSimone J, Koshy M, Dorn L, Lavelle D, Bressler L, Molokie R, Talischy N (2002) Maintenance of elevated fetal hemoglobin levels by decitabine during dose interval treatment of sickle cell anemia. Blood 99: 3905-3908.
-
(2002)
Blood
, vol.99
, pp. 3905-3908
-
-
DeSimone, J.1
Koshy, M.2
Dorn, L.3
Lavelle, D.4
Bressler, L.5
Molokie, R.6
Talischy, N.7
-
31
-
-
0024345780
-
Activation and repression of a beta-globin gene in cell hybrids is accompanied by a shift in its temporal replication
-
Dhar V, Skoultchi AI, Schildkraut CL (1989) Activation and repression of a beta-globin gene in cell hybrids is accompanied by a shift in its temporal replication. Mol Cell Biol 9:3524-3532.
-
(1989)
Mol Cell Biol
, vol.9
, pp. 3524-3532
-
-
Dhar, V.1
Skoultchi, A.I.2
Schildkraut, C.L.3
-
32
-
-
0025891950
-
Human gamma-globin genes silenced independently of other genes in the beta-globin locus
-
Dillon N, Grosveld F (1991) Human gamma-globin genes silenced independently of other genes in the beta-globin locus. Nature 350:252-254.
-
(1991)
Nature
, vol.350
, pp. 252-254
-
-
Dillon, N.1
Grosveld, F.2
-
33
-
-
0031306463
-
The effect of distance on long-range chromatin interactions
-
Dillon N, Trimborn T, Strouboulis J, Fraser P, Grosveld F (1997) The effect of distance on long-range chromatin interactions. Mol Cell 1:131-139.
-
(1997)
Mol Cell
, vol.1
, pp. 131-139
-
-
Dillon, N.1
Trimborn, T.2
Strouboulis, J.3
Fraser, P.4
Grosveld, F.5
-
34
-
-
0028366233
-
Polymorphic pattern of the (AT)XTY motif at -530 5' to the beta-globin gene in over 40 patients homozygous for various beta-thalassemia mutations
-
Dimovski AJ, Adekile AD, Divoky V, Baysal E, Huisman TH (1994) Polymorphic pattern of the (AT)XTY motif at -530 5' to the beta-globin gene in over 40 patients homozygous for various beta-thalassemia mutations. Am J Hematol 45:51-57.
-
(1994)
Am J Hematol
, vol.45
, pp. 51-57
-
-
Dimovski, A.J.1
Adekile, A.D.2
Divoky, V.3
Baysal, E.4
Huisman, T.H.5
-
35
-
-
20944440064
-
Hydroxyurea in thalassemia intermedia-a promising therapy
-
Dixit A, Chatterjee TC, Mishra P, Choudhry DR, Mahapatra M, Tyagi S, Kabra M, Saxena R, Choudhry VP (2005) Hydroxyurea in thalassemia intermedia-a promising therapy. Ann Hematol 84:441-446.
-
(2005)
Ann Hematol
, vol.84
, pp. 441-446
-
-
Dixit, A.1
Chatterjee, T.C.2
Mishra, P.3
Choudhry, D.R.4
Mahapatra, M.5
Tyagi, S.6
Kabra, M.7
Saxena, R.8
Choudhry, V.P.9
-
36
-
-
0026708201
-
Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2
-
Dover GJ, Smith KD, Chang YC, Purvis S, Mays A, Meyers DA, 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
-
37
-
-
5444255213
-
The active spatial organization of the beta-globin locus requires the transcription factor EKLF
-
Drissen R, Palstra RJ, Gillemans N, Splinter E, Grosveld F, Philipsen S, de Laat W (2004) The active spatial organization of the beta-globin locus requires the transcription factor EKLF. Genes Dev 18:2485-2490.
-
(2004)
Genes Dev
, vol.18
, pp. 2485-2490
-
-
Drissen, R.1
Palstra, R.J.2
Gillemans, N.3
Splinter, E.4
Grosveld, F.5
Philipsen, S.6
De Laat, W.7
-
38
-
-
0023864651
-
Lineage-specific expression of a human beta-globin gene in murine bone marrow transplant recipients reconstituted with retrovirus-transduced stem cells
-
Dzierzak EA, Papayannopoulou T, Mulligan RC (1988) Lineage-specific expression of a human beta-globin gene in murine bone marrow transplant recipients reconstituted with retrovirus-transduced stem cells. Nature 331:35-41.
-
(1988)
Nature
, vol.331
, pp. 35-41
-
-
Dzierzak, E.A.1
Papayannopoulou, T.2
Mulligan, R.C.3
-
39
-
-
0029008481
-
The biophysics of sickle cell hydroxyurea therapy
-
Eaton WA, Hofrichter J (1995) The biophysics of sickle cell hydroxyurea therapy. Science 268:1142-1143.
-
(1995)
Science
, vol.268
, pp. 1142-1143
-
-
Eaton, W.A.1
Hofrichter, J.2
-
40
-
-
0030050402
-
A dominant chromatinopening activity in 5-hypersensitive site 3 of the human beta-globin locus control region
-
Ellis J, Tan-Un KC, Harper A, Michalovich D, Yannoutsos N, Philipsen S, Grosveld F (1996) A dominant chromatinopening activity in 5-hypersensitive site 3 of the human beta-globin locus control region. EMBO J 15:562-568.
-
(1996)
EMBO J
, vol.15
, pp. 562-568
-
-
Ellis, J.1
Tan-Un, K.C.2
Harper, A.3
Michalovich, D.4
Yannoutsos, N.5
Philipsen, S.6
Grosveld, F.7
-
41
-
-
0025329590
-
Developmental regulation of human fetal-to-adult globin gene switching in transgenic mice
-
Enver T, Raich N, Ebens AJ, Papayannopoulou T, Costantini F, Stamatoyannopoulos G (1990) Developmental regulation of human fetal-to-adult globin gene switching in transgenic mice. Nature 344:309-313.
-
(1990)
Nature
, vol.344
, pp. 309-313
-
-
Enver, T.1
Raich, N.2
Ebens, A.J.3
Papayannopoulou, T.4
Costantini, F.5
Stamatoyannopoulos, G.6
-
42
-
-
33644908485
-
Thalassaemia-like carriers not linked to the beta-globin gene cluster
-
Faa V, Meloni V, Moi L, Ibba G, Travi M, Vitucci A, Cao A, Rosatelli MC (2006) Thalassaemia-like carriers not linked to the beta-globin gene cluster. Br J Haematol 132:640-650.
-
(2006)
Br J Haematol
, vol.132
, pp. 640-650
-
-
Faa, V.1
Meloni, V.2
Moi, L.3
Ibba, G.4
Travi, M.5
Vitucci, A.6
Cao, A.7
Rosatelli, M.C.8
-
43
-
-
0018849156
-
Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: Hematologic, functional, and biosynthetic studies of fi rst North American cases
-
Fairbanks VF, Oliveros R, Brandabur JH, Willis RR, Fiester RF (1980) Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: Hematologic, functional, and biosynthetic studies of fi rst North American cases. Am J Hematol 8:109-121.
-
(1980)
Am J Hematol
, vol.8
, pp. 109-121
-
-
Fairbanks, V.F.1
Oliveros, R.2
Brandabur, J.H.3
Willis, R.R.4
Fiester, R.F.5
-
44
-
-
0036094107
-
Conserved CTCF insulator elements flank the mouse and human betaglobin loci
-
Farrell CM, West AG, Felsenfeld G (2002) Conserved CTCF insulator elements flank the mouse and human betaglobin loci. Mol Cell Biol 22:3820-3831.
-
(2002)
Mol Cell Biol
, vol.22
, pp. 3820-3831
-
-
Farrell, C.M.1
West, A.G.2
Felsenfeld, G.3
-
46
-
-
0025107556
-
A deletion of the human beta-globin locus activation region causes a major alteration in chromatin structure and replication across the entire beta-globin locus
-
Forrester WC, Epner E, Driscoll MC, Enver T, Brice M, Papayannopoulou T, Groudine M (1990) A deletion of the human beta-globin locus activation region causes a major alteration in chromatin structure and replication across the entire beta-globin locus. Genes Dev 4:1637-1649.
-
(1990)
Genes Dev
, vol.4
, pp. 1637-1649
-
-
Forrester, W.C.1
Epner, E.2
Driscoll, M.C.3
Enver, T.4
Brice, M.5
Papayannopoulou, T.6
Groudine, M.7
-
47
-
-
0036181252
-
Evidence of genetic interaction between the beta-globin complex and chromosome 8q in the expression of fetal hemoglobin
-
Garner CP, Tatu T, Best S, Creary L, Thein SL (2002) Evidence of genetic interaction between the beta-globin complex and chromosome 8q in the expression of fetal hemoglobin. Am J Hum Genet 70:793-799.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 793-799
-
-
Garner, C.P.1
Tatu, T.2
Best, S.3
Creary, L.4
Thein, S.L.5
-
48
-
-
0037304503
-
Stem cell transplantation for hemoglobinopathies
-
Gaziev J, Lucarelli G (2003) Stem cell transplantation for hemoglobinopathies. Curr Opin Pediatr 15:24-31.
-
(2003)
Curr Opin Pediatr
, vol.15
, pp. 24-31
-
-
Gaziev, J.1
Lucarelli, G.2
-
49
-
-
0037397918
-
GALA, a database for genomic sequence alignments and annotations
-
Giardine B, Elnitski L, Riemer C, Makalowska I, Schwartz S, Miller W, Hardison RC (2003) GALA, a database for genomic sequence alignments and annotations. Genome Res 13:732-741.
-
(2003)
Genome Res
, vol.13
, pp. 732-741
-
-
Giardine, B.1
Elnitski, L.2
Riemer, C.3
Makalowska, I.4
Schwartz, S.5
Miller, W.6
Hardison, R.C.7
-
50
-
-
33846045774
-
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update
-
Giardine B, van Baal S, Kaimakis P, Riemer C, Miller W, Samara M, Kollia P, Anagnou NP, Chui DH, Wajcman H, Hardison RC, Patrinos GP (2007) HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat 28:206.
-
(2007)
Hum Mutat
, vol.28
, pp. 206
-
-
Giardine, B.1
Van Baal, S.2
Kaimakis, P.3
Riemer, C.4
Miller, W.5
Samara, M.6
Kollia, P.7
Anagnou, N.P.8
Chui, D.H.9
Wajcman, H.10
Hardison, R.C.11
Patrinos, G.P.12
-
51
-
-
34248336122
-
PhenCode: Connecting ENCODE data with mutations and phenotype
-
Giardine B, Riemer C, Hefferon T, Thomas D, Hsu F, Zielenski J, Sang Y, Elnitski L, Cutting G, Trumbower H, Kern A, Kuhn R, Patrinos GP, Hughes J, Higgs D, Chui D, Scriver C, Phommarinh M, Patnaik SK, Blumenfeld O, Gottlieb B, Vihinen M, Valiaho J, Kent J, Miller W, Hardison RC (2007) PhenCode: connecting ENCODE data with mutations and phenotype. Hum Mutat 28:554-562.
-
(2007)
Hum Mutat
, vol.28
, pp. 554-562
-
-
Giardine, B.1
Riemer, C.2
Hefferon, T.3
Thomas, D.4
Hsu, F.5
Zielenski, J.6
Sang, Y.7
Elnitski, L.8
Cutting, G.9
Trumbower, H.10
Kern, A.11
Kuhn, R.12
Patrinos, G.P.13
Hughes, J.14
Higgs, D.15
Chui, D.16
Scriver, C.17
Phommarinh, M.18
Patnaik, S.K.19
Blumenfeld, O.20
Gottlieb, B.21
Vihinen, M.22
Valiaho, J.23
Kent, J.24
Miller, W.25
Hardison, R.C.26
more..
-
52
-
-
0034522528
-
Molecular-clinical spectrum of the ATR-X syndrome
-
Gibbons RJ, Higgs DR (2000) Molecular-clinical spectrum of the ATR-X syndrome. Am J Med Genet 97:204-212.
-
(2000)
Am J Med Genet
, vol.97
, pp. 204-212
-
-
Gibbons, R.J.1
Higgs, D.R.2
-
53
-
-
0028939603
-
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)
-
Gibbons RJ, Picketts DJ, Villard L, Higgs DR (1995) Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80:837-845.
-
(1995)
Cell
, vol.80
, pp. 837-845
-
-
Gibbons, R.J.1
Picketts, D.J.2
Villard, L.3
Higgs, D.R.4
-
54
-
-
0027392751
-
Enhancer-dependent transcription of the epsilon-globin promoter requires promoter-bound GATA-1 and enhancer-bound AP-1/NF-E2
-
Gong Q, Dean A (1993) Enhancer-dependent transcription of the epsilon-globin promoter requires promoter-bound GATA-1 and enhancer-bound AP-1/NF-E2. Mol Cell Biol 13:911-917.
-
(1993)
Mol Cell Biol
, vol.13
, pp. 911-917
-
-
Gong, Q.1
Dean, A.2
-
55
-
-
0032928813
-
Activation by locus control regions?
-
Grosveld F (1999) Activation by locus control regions? Curr Opin Genet Dev 9:152-157.
-
(1999)
Curr Opin Genet Dev
, vol.9
, pp. 152-157
-
-
Grosveld, F.1
-
56
-
-
0023663887
-
Position-independent, high-level expression of the human beta-globin gene in transgenic mice
-
Grosveld F, van Assendelft GB, Greaves DR, Kollias G (1987) Position-independent, high-level expression of the human beta-globin gene in transgenic mice. Cell 51:975-985.
-
(1987)
Cell
, vol.51
, pp. 975-985
-
-
Grosveld, F.1
Van Assendelft, G.B.2
Greaves, D.R.3
Kollias, G.4
-
57
-
-
0037448352
-
A serious adverse event after successful gene therapy for X-linked severe combined immunodefi ciency
-
Hacein-Bey-Abina S, von Kalle C, Schmidt M, Le Deist F, Wulffraat N, McIntyre E, Radford I, Villeval JL, Fraser CC, Cavazzana-Calvo M, Fischer A (2003) A serious adverse event after successful gene therapy for X-linked severe combined immunodefi ciency. N Engl J Med 348:255-256.
-
(2003)
N Engl J Med
, vol.348
, pp. 255-256
-
-
Hacein-Bey-abina, S.1
Von, K.C.2
Schmidt, M.3
Le Deist, F.4
Wulffraat, N.5
Mcintyre, E.6
Radford, I.7
Villeval, J.L.8
Fraser, C.C.9
Cavazzana-Calvo, M.10
Fischer, A.11
-
58
-
-
0036190154
-
HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
-
Hardison RC, Chui DH, Giardine B, Riemer C, Patrinos GP, Anagnou N, Miller W, Wajcman H (2002) HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat 19:225-233.
-
(2002)
Hum Mutat
, vol.19
, pp. 225-233
-
-
Hardison, R.C.1
Chui, D.H.2
Giardine, B.3
Riemer, C.4
Patrinos, G.P.5
Anagnou, N.6
Miller, W.7
Wajcman, H.8
-
59
-
-
29144480573
-
Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- And beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification
-
Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, Giordano PC (2005) Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- And beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet 42:922-931.
-
(2005)
J Med Genet
, vol.42
, pp. 922-931
-
-
Harteveld, C.L.1
Voskamp, A.2
Phylipsen, M.3
Akkermans, N.4
Den, D.J.T.5
White, S.J.6
Giordano, P.C.7
-
60
-
-
0025365383
-
Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster
-
Hatton CS, Wilkie AO, Drysdale HC, Wood WG, Vickers MA, Sharpe J, Ayyub H, Pretorius IM, Buckle VJ, Higgs DR (1990) Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. Blood 76:221-227.
-
(1990)
Blood
, vol.76
, pp. 221-227
-
-
Hatton, C.S.1
Wilkie, A.O.2
Drysdale, H.C.3
Wood, W.G.4
Vickers, M.A.5
Sharpe, J.6
Ayyub, H.7
Pretorius, I.M.8
Buckle, V.J.9
Higgs, D.R.10
-
61
-
-
0024892555
-
Characterization of beta-thalassemia mutations among the Japanese
-
Hattori Y, Yamane Y, Yamashiro Y, Matsuno Y, Ki Y, Ku Y, Ohba Y, Miyaji T (1989) Characterization of beta-thalassemia mutations among the Japanese. Hemoglobin 13:657-670.
-
(1989)
Hemoglobin
, vol.13
, pp. 657-670
-
-
Hattori, Y.1
Yamane, Y.2
Yamashiro, Y.3
Matsuno, Y.4
Ki, Y.5
Ku, Y.6
Ohba, Y.7
Miyaji, T.8
-
62
-
-
84928862267
-
Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia
-
Herrick JB (1910) Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. Arch Intern Med 6:517.
-
(1910)
Arch Intern Med
, vol.6
, pp. 517
-
-
Herrick, J.B.1
-
63
-
-
0024509622
-
A review of the molecular genetics of the human alpha-globin gene cluster
-
Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (1989) A review of the molecular genetics of the human alpha-globin gene cluster. Blood 73:1081-1104.
-
(1989)
Blood
, vol.73
, pp. 1081-1104
-
-
Higgs, D.R.1
Vickers, M.A.2
Wilkie, A.O.3
Pretorius, I.M.4
Jarman, A.P.5
Weatherall, D.J.6
-
64
-
-
0024993211
-
A major positive regulatory region located far upstream of the human alpha-globin gene locus
-
Higgs DR, Wood WG, Jarman AP, Sharpe J, Lida J, Pretorius IM, Ayyub H (1990) A major positive regulatory region located far upstream of the human alpha-globin gene locus. Genes Dev 4:1588-1601.
-
(1990)
Genes Dev
, vol.4
, pp. 1588-1601
-
-
Higgs, D.R.1
Wood, W.G.2
Jarman, A.P.3
Sharpe, J.4
Lida, J.5
Pretorius, I.M.6
Ayyub, H.7
-
66
-
-
0023874791
-
The inhibition of hemoglobin C chrystallization by hemoglobin S
-
Hirsch RE, Lin MJ, Nagel RL (1988) The inhibition of hemoglobin C chrystallization by hemoglobin S. J Biol Chem 263:5936-5939.
-
(1988)
J Biol Chem
, vol.263
, pp. 5936-5939
-
-
Hirsch, R.E.1
Lin, M.J.2
Nagel, R.L.3
-
67
-
-
0023635390
-
A short review of human gammaglobin gene anomalies
-
Huisman TH (1987) A short review of human gammaglobin gene anomalies. Acta Haematol 78:80-84.
-
(1987)
Acta Haematol
, vol.78
, pp. 80-84
-
-
Huisman, T.H.1
-
68
-
-
0015454803
-
Hemoglobin Kenya, the product of the fusion of the gamma- And beta-polypeptide chains
-
Huisman TH, Wrightstone RN, Wilson JB, Schroeder WA, Kendall AG (1972) Hemoglobin Kenya, the product of the fusion of the gamma- And beta-polypeptide chains. Arch Biochem Biophys 153:850-853.
-
(1972)
Arch Biochem Biophys
, vol.153
, pp. 850-853
-
-
Huisman, T.H.1
Wrightstone, R.N.2
Wilson, J.B.3
Schroeder, W.A.4
Kendall, A.G.5
-
70
-
-
0003508804
-
-
2nd edn. Sickle Cell Anemia Foundation, Augusta, GA
-
Huisman TH, Carver MF, Efremov GD (1998) A syllabus of human hemoglobin variants, 2nd edn. Sickle Cell Anemia Foundation, Augusta, GA.
-
(1998)
A Syllabus of Human Hemoglobin Variants
-
-
Huisman, T.H.1
Carver, M.F.2
Efremov, G.D.3
-
71
-
-
0000420850
-
A specific chemical difference between the globins of normal human and sickle cell anaemia haemoglobin
-
Ingram VM (1956) A specific chemical difference between the globins of normal human and sickle cell anaemia haemoglobin. Nature 178:792.
-
(1956)
Nature
, vol.178
, pp. 792
-
-
Ingram, V.M.1
-
72
-
-
0042577857
-
Genetic basis of the thalassaemia diseases
-
Ingram VM, Stretton AO (1959) Genetic basis of the thalassaemia diseases. Nature 184:1903-1909.
-
(1959)
Nature
, vol.184
, pp. 1903-1909
-
-
Ingram, V.M.1
Stretton, A.O.2
-
73
-
-
0025734604
-
Characterization of the major regulatory element upstream of the human alpha-globin gene cluster
-
Jarman AP, Wood WG, Sharpe JA, Gourdon G, Ayyub H, Higgs DR (1991) Characterization of the major regulatory element upstream of the human alpha-globin gene cluster. Mol Cell Biol 11:4679-4689.
-
(1991)
Mol Cell Biol
, vol.11
, pp. 4679-4689
-
-
Jarman, A.P.1
Wood, W.G.2
Sharpe, J.A.3
Gourdon, G.4
Ayyub, H.5
Higgs, D.R.6
-
74
-
-
4644223235
-
HPLC retention time as a diagnostic tool for hemoglobin variants and hemoglobinopathies: A study of 60000 samples in a clinical diagnostic laboratory
-
Joutovsky A, Hadzi-Nesic J, Nardi MA (2004) HPLC retention time as a diagnostic tool for hemoglobin variants and hemoglobinopathies: A study of 60000 samples in a clinical diagnostic laboratory. Clin Chem 50:1736-1747.
-
(2004)
Clin Chem
, vol.50
, pp. 1736-1747
-
-
Joutovsky, A.1
Hadzi-Nesic, J.2
Nardi, M.A.3
-
75
-
-
0020997508
-
Use of haplotype analysis in the betaglobin gene cluster to discover beta-thalassemia mutations
-
Kazazian HH Jr, Antonarakis SE, Cheng T, Boehm CD, Waber PG (1983) Use of haplotype analysis in the betaglobin gene cluster to discover beta-thalassemia mutations. Prog Clin Biol Res 134:91-98.
-
(1983)
Prog Clin Biol Res
, vol.134
, pp. 91-98
-
-
Kazazian, H.H.1
Antonarakis, S.E.2
Cheng, T.3
Boehm, C.D.4
Waber, P.G.5
-
76
-
-
0021354705
-
Hemoglobin E in Europeans: Further evidence for multiple origins of the beta E-globin gene
-
Kazazian HH Jr, Waber PG, Boehm CD, Lee JI, Antonarakis SE, Fairbanks VF (1984) Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene. Am J Hum Genet 36:212-217.
-
(1984)
Am J Hum Genet
, vol.36
, pp. 212-217
-
-
Kazazian, H.H.1
Waber, P.G.2
Boehm, C.D.3
Lee, J.I.4
Antonarakis, S.E.5
Fairbanks, V.F.6
-
77
-
-
0021252333
-
Quantification of the close association between DNA haplotypes and specific b -thalassemia mutations in Mediterraneans
-
Kazazian HH Jr, Orkin SH, Markham AF, Chapman CR, Youssoufian H, Waber PG (1984) Quantifi cation of the close association between DNA haplotypes and specific b -thalassemia mutations in Mediterraneans. Nature 310:152-154.
-
(1984)
Nature
, vol.310
, pp. 152-154
-
-
Kazazian, H.H.1
Orkin, S.H.2
Markham, A.F.3
Chapman, C.R.4
Youssoufian, H.5
Waber, P.G.6
-
78
-
-
0007758208
-
Polymorphism of DNA sequence adjacent to human beta-globin structural gene: Relationship to sickle mutation
-
Kan YW, Dozy AM (1978) Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci USA 75:5631-5635.
-
(1978)
Proc Natl Acad Sci USA
, vol.75
, pp. 5631-5635
-
-
Kan, Y.W.1
Dozy, A.M.2
-
79
-
-
0021014396
-
Beta-globin gene inactivation by DNA translocation in gamma beta-thalassaemia
-
Kioussis D, Vanin E, deLange T, Flavell RA, Grosveld FG (1983) Beta-globin gene inactivation by DNA translocation in gamma beta-thalassaemia. Nature 306:662-666.
-
(1983)
Nature
, vol.306
, pp. 662-666
-
-
Kioussis, D.1
Vanin, E.2
Delange, T.3
Flavell, R.A.4
Grosveld, F.G.5
-
80
-
-
0022549802
-
Regulated expression of human A gamma-, beta-, and hybrid gamma beta-globin genes in transgenic mice: Manipulation of the developmental expression patterns
-
Kollias G, Wrighton N, Hurst J, Grosveld F (1986) Regulated expression of human A gamma-, beta-, and hybrid gamma beta-globin genes in transgenic mice: Manipulation of the developmental expression patterns. Cell 46:89-94.
-
(1986)
Cell
, vol.46
, pp. 89-94
-
-
Kollias, G.1
Wrighton, N.2
Hurst, J.3
Grosveld, F.4
-
81
-
-
0022547280
-
Geographical survey of betaS-globin gene haplotypes: Evidence for an independent Asian origin of the sickle-cell mutation
-
Kulozik AE, Wainscoat JS, Serjeant GR, Kar BC, Al-Awamy B, Essan GJF, Falusi AG, Haque SK, Hilali AM, Kate S, Ranasinghe WA, Weatherall DJ (1986) Geographical survey of betaS-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation. Am J Hum Genet 39:239-244.
-
(1986)
Am J Hum Genet
, vol.39
, pp. 239-244
-
-
Kulozik, A.E.1
Wainscoat, J.S.2
Serjeant, G.R.3
Kar, B.C.4
Al-Awamy, B.5
Essan, G.J.F.6
Falusi, A.G.7
Haque, S.K.8
Hilali, A.M.9
Kate, S.10
Ranasinghe, W.A.11
Weatherall, D.J.12
-
82
-
-
29744438595
-
Bone marrow transplantation in adults with thalassemia: Treatment and long-term follow-up
-
La Nasa, G, Argiolu F, Giardini C, Pession A, Fagioli F, Caocci G, Vacca A, De Stefano, P, Piras E, Ledda A, Piroddi A, Littera R, Nesci S, Locatelli F (2005) Bone marrow transplantation in adults with thalassemia: Treatment and long-term follow-up. Ann NY Acad Sci 1054:196-205.
-
(2005)
Ann NY Acad Sci
, vol.1054
, pp. 196-205
-
-
Argiolu, F.1
Giardini, C.2
Pession, A.3
Fagioli, F.4
Caocci, G.5
Vacca, A.6
Piras, E.7
Ledda, A.8
Piroddi, A.9
Littera, R.10
Nesci, S.11
Locatelli, F.12
La Nasa, G.13
De Stefano, P.14
-
83
-
-
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 ME, Nagel RL (1985) Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients. Proc Natl Acad Sci USA 82:2111-2114.
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 2111-2114
-
-
Labie, D.1
Pagnier, J.2
Lapoumeroulie, C.3
Rouabhi, F.4
Dunda-, B.O.5
Chardin, P.6
Beldjord, C.7
Wajcman, H.8
Fabry, M.E.9
Nagel, R.L.10
-
84
-
-
0025779166
-
Sequence variations in the 5' flanking and IVS-II regions of the Ggamma- And Agamma-globin genes of betaS chromosomes with fi ve different haplotypes
-
Lanclos KD, Oner C, Dimovski AJ, Gu YC, Huisman TH (1991) Sequence variations in the 5' fl anking and IVS-II regions of the Ggamma- And Agamma-globin genes of betaS chromosomes with fi ve different haplotypes. Blood 77:2488-2496.
-
(1991)
Blood
, vol.77
, pp. 2488-2496
-
-
Lanclos, K.D.1
Oner, C.2
Dimovski, A.J.3
Gu, Y.C.4
Huisman, T.H.5
-
85
-
-
0026780259
-
A novel sickle cell mutation of yet another origin in Africa: The Cameroon type
-
Lapoumeroulie C, Dunda O, Ducrocq R, Trabuchet G, Mony-Lobe M, Bada JM, Carnevale P, Labie D, Elion J, Krishnamoorthy R (1992) A novel sickle cell mutation of yet another origin in Africa: The Cameroon type. Hum Genet 89:333-337.
-
(1992)
Hum Genet
, vol.89
, pp. 333-337
-
-
Lapoumeroulie, C.1
Dunda, O.2
Ducrocq, R.3
Trabuchet, G.4
Mony-Lobe, M.5
Bada, J.M.6
Carnevale, P.7
Labie, D.8
Elion, J.9
Krishnamoorthy, R.10
-
87
-
-
0021982038
-
Reversed phase high-performance liquid chromatography of human haemoglobin chains
-
Leone L, Monteleone M, Gabutti V, Amione C (1985) Reversed phase high-performance liquid chromatography of human haemoglobin chains. J Chromatogr 321:407-419.
-
(1985)
J Chromatogr
, vol.321
, pp. 407-419
-
-
Leone, L.1
Monteleone, M.2
Gabutti, V.3
Amione, C.4
-
88
-
-
0020359164
-
Different rates of mRNA translation balance the expression of the two human alphaglobin loci
-
Liebhaber SA, Kan YW (1982) Different rates of mRNA translation balance the expression of the two human alphaglobin loci. J Biol Chem 257:11852-11855.
-
(1982)
J Biol Chem
, vol.257
, pp. 11852-11855
-
-
Liebhaber, S.A.1
Kan, Y.W.2
-
89
-
-
0027274649
-
Treatment with azacitidine of patients with end-stage beta-thalassemia
-
Lowrey CH, Nienhuis AW (1993) Treatment with azacitidine of patients with end-stage beta-thalassemia. N Engl J Med 329:845-848.
-
(1993)
N Engl J Med
, vol.329
, pp. 845-848
-
-
Lowrey, C.H.1
Nienhuis, A.W.2
-
90
-
-
0030062162
-
Fetal hemoglobin in sickle cell anemia: Relation to regulatory sequences cis to the beta-globin gene
-
Multicenter Study of Hydroxyurea
-
Lu ZH, Steinberg MH, Multicenter Study of Hydroxyurea (1996) Fetal hemoglobin in sickle cell anemia: relation to regulatory sequences cis to the beta-globin gene. Blood 87:1604-1611.
-
(1996)
Blood
, vol.87
, pp. 1604-1611
-
-
Lu, Z.H.1
Steinberg, M.H.2
-
91
-
-
0025908209
-
Negative regulation of globin gene expression during megakaryocytic differentiation of a human erythroleukemic cell line
-
Lumelsky NL, Forget BG (1991) Negative regulation of globin gene expression during megakaryocytic differentiation of a human erythroleukemic cell line. Mol Cell Biol 11:3528-3536.
-
(1991)
Mol Cell Biol
, vol.11
, pp. 3528-3536
-
-
Lumelsky, N.L.1
Forget, B.G.2
-
92
-
-
67749098533
-
A novel single nucleotide polymorphism (SNP), T>G, in the GATA site at nucleotide (nt) -567 5' to the Ggamma-globin gene may be associated with elevated Hb F
-
Luo HY, Mang D, Patrinos GP, Pourfarzad F, Wuc CJY, Eung SH, Rosenfi eld CG, Daoust PR, Braun A, Grosveld FG, Steinberg MH, Chui DH (2004) A novel single nucleotide polymorphism (SNP), T>G, in the GATA site at nucleotide (nt) -567 5' to the Ggamma-globin gene may be associated with elevated Hb F. Blood 104:145a-146a.
-
(2004)
Blood
, vol.104
, pp. 145a-146a
-
-
Luo, H.Y.1
Mang, D.2
Patrinos, G.P.3
Pourfarzad, F.4
Wuc, C.J.Y.5
Eung, S.H.6
Rosenfi, E.C.G.7
Daoust, P.R.8
Braun, A.9
Grosveld, F.G.10
Steinberg, M.H.11
Chui, D.H.12
-
93
-
-
0025756198
-
Surface antigen expression on Plasmodium falciparum-infected erythrocytes is modifi ed in alpha- And beta-thalassemia
-
Luzzi GA, Merry AH, Newbold CI, Marsh K, Pasvol G, Weatherall DJ (1991) Surface antigen expression on Plasmodium falciparum-infected erythrocytes is modifi ed in alpha- And beta-thalassemia. J Exp Med 173:785-791.
-
(1991)
J Exp Med
, vol.173
, pp. 785-791
-
-
Luzzi, G.A.1
Merry, A.H.2
Newbold, C.I.3
Marsh, K.4
Pasvol, G.5
Weatherall, D.J.6
-
94
-
-
36549089997
-
Fetal hemoglobin in sickle cell anemia: Genetic determinants of response to hydroxyurea
-
Ma Q, Wyszynski DF, Farrell JJ, Kutlar A, Farrer LA, Baldwin CT, Steinberg MH (2007) Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea. Pharmacogenomics J 7:386-394.
-
(2007)
Pharmacogenomics J
, vol.7
, pp. 386-394
-
-
Ma, Q.1
Wyszynski, D.F.2
Farrell, J.J.3
Kutlar, A.4
Farrer, L.A.5
Baldwin, C.T.6
Steinberg, M.H.7
-
95
-
-
36248989152
-
Beta-Globin gene cluster polymorphisms are strongly associated with severity of HbE/beta(0)-thalassemia
-
Ma Q, Abel K, Sripichai O, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Fucharoen S, Braun A, Farrer L (2007) Beta-Globin gene cluster polymorphisms are strongly associated with severity of HbE/beta(0)-thalassemia. Clin Genet 72:497-505.
-
(2007)
Clin Genet
, vol.72
, pp. 497-505
-
-
Ma, Q.1
Abel, K.2
Sripichai, O.3
Whitacre, J.4
Angkachatchai, V.5
Makarasara, W.6
Winichagoon, P.7
Fucharoen, S.8
Braun, A.9
Farrer, L.10
-
96
-
-
0022486771
-
Sequence organization and genomic complexity of primary theta-1 globin gene, a novel alpha-globin-like gene
-
Marks J, Shaw J-P, Shen C-KJ (1986) Sequence organization and genomic complexity of primary theta-1 globin gene, a novel alpha-globin-like gene. Nature 321:785-788.
-
(1986)
Nature
, vol.321
, pp. 785-788
-
-
Marks, J.1
Shaw, J.-P.2
Shen, C.-K.J.3
-
97
-
-
0343628721
-
Therapeutic haemoglobin synthesis in beta-thalassaemic mice expressing lentivirusencoded human beta-globin
-
May C, Rivella S, Callegari J, Heller G, Gaensler KM, Luzzatto L, Sadelain M (2000) Therapeutic haemoglobin synthesis in beta-thalassaemic mice expressing lentivirusencoded human beta-globin. Nature 406:82-86.
-
(2000)
Nature
, vol.406
, pp. 82-86
-
-
May, C.1
Rivella, S.2
Callegari, J.3
Heller, G.4
Gaensler, K.M.5
Luzzatto, L.6
Sadelain, M.7
-
98
-
-
0021044736
-
Boundaries of gene conversion within the duplicated human alpha-globin genes
-
Michelson AM, Orkin SH (1983) Boundaries of gene conversion within the duplicated human alpha-globin genes. J Biol Chem 258:15245-15254.
-
(1983)
J Biol Chem
, vol.258
, pp. 15245-15254
-
-
Michelson, A.M.1
Orkin, S.H.2
-
99
-
-
16044372786
-
Heterochromatin effects on the frequency and duration of LCR-mediated gene transcription
-
Milot E, Strouboulis J, Trimborn T, Wijgerde M, de Boer E, Langeveld A, Tan-Un K, Vergeer W, Yannoutsos N, Grosveld F, Fraser P (1996) Heterochromatin effects on the frequency and duration of LCR-mediated gene transcription. Cell 87:105-114.
-
(1996)
Cell
, vol.87
, pp. 105-114
-
-
Milot, E.1
Strouboulis, J.2
Trimborn, T.3
Wijgerde, M.4
De Boer, E.5
Langeveld, A.6
Tan-Un, K.7
Vergeer, W.8
Yannoutsos, N.9
Grosveld, F.10
Fraser, P.11
-
100
-
-
67651031547
-
Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants
-
Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP (2009) Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants. Ann Hematol 88:535-543.
-
(2009)
Ann Hematol
, vol.88
, pp. 535-543
-
-
Moradkhani, K.1
Préhu, C.2
Old, J.3
Henderson, S.4
Balamitsa, V.5
Luo, H.Y.6
Poon, M.C.7
Chui, D.H.8
Wajcman, H.9
Patrinos, G.P.10
-
101
-
-
0015213102
-
Moleuclar pathology of human haemoglobin: Stereochemical interpretation of abnormal oxygen affinities
-
Morimoto H, Lehmann H, Perutz MF (1971) Moleuclar pathology of human haemoglobin: Stereochemical interpretation of abnormal oxygen affinities. Nature 232: 408-413.
-
(1971)
Nature
, vol.232
, pp. 408-413
-
-
Morimoto, H.1
Lehmann, H.2
Perutz, M.F.3
-
102
-
-
0000610156
-
Structure of haemoglobin. A three-dimensional fourier synthesis of reduced human haemoglobin at 5-5 A resolution
-
Muirhead H, Perutz MF (1963) Structure of haemoglobin. A three-dimensional fourier synthesis of reduced human haemoglobin at 5-5 A resolution. Nature 199:633-688.
-
(1963)
Nature
, vol.199
, pp. 633-688
-
-
Muirhead, H.1
Perutz, M.F.2
-
103
-
-
0021918737
-
Detection of single base substitutions in total genomic DNA
-
Myers RM, Lumelsky N, Lerman LS, Maniatis T (1985) Detection of single base substitutions in total genomic DNA. Nature 313:495-498.
-
(1985)
Nature
, vol.313
, pp. 495-498
-
-
Myers, R.M.1
Lumelsky, N.2
Lerman, L.S.3
Maniatis, T.4
-
104
-
-
0025183658
-
Genetic epidemiology of structural mutations of the beta-globin gene
-
Nagel RL, Ranney HM (1990) Genetic epidemiology of structural mutations of the beta-globin gene. Semin Hematol 27:342-359.
-
(1990)
Semin Hematol
, vol.27
, pp. 342-359
-
-
Nagel, R.L.1
Ranney, H.M.2
-
105
-
-
0000192487
-
The inheritance of sickle cell anemia
-
Neel JV (1949) The inheritance of sickle cell anemia. Science 110:64.
-
(1949)
Science
, vol.110
, pp. 64
-
-
Neel, J.V.1
-
106
-
-
0025291510
-
Tandem AP-1-binding sites within the human betaglobin dominant control region function as an inducible enhancer in erythroid cells
-
Ney PA, Sorrentino BP, McDonagh KT, Nienhuis AW (1990) Tandem AP-1-binding sites within the human betaglobin dominant control region function as an inducible enhancer in erythroid cells. Genes Dev 4:993-1006.
-
(1990)
Genes Dev
, vol.4
, pp. 993-1006
-
-
Ney, P.A.1
Sorrentino, B.P.2
McDonagh, K.T.3
Nienhuis, A.W.4
-
107
-
-
0029010790
-
Defective haematopoiesis in fetal liver resulting from inactivation of the EKLF gene
-
Nuez B, Michalovich D, Bygrave A, Ploemacher R, Grosveld F (1995) Defective haematopoiesis in fetal liver resulting from inactivation of the EKLF gene. Nature 375:316-318.
-
(1995)
Nature
, vol.375
, pp. 316-318
-
-
Nuez, B.1
Michalovich, D.2
Bygrave, A.3
Ploemacher, R.4
Grosveld, F.5
-
108
-
-
0035451090
-
CTCF is a uniquely versatile transcription regulator linked to epigenetics and disease
-
Ohlsson R, Renkawitz R, Lobanenkov V (2001) CTCF is a uniquely versatile transcription regulator linked to epigenetics and disease. Trends Genet 17:520-527.
-
(2001)
Trends Genet
, vol.17
, pp. 520-527
-
-
Ohlsson, R.1
Renkawitz, R.2
Lobanenkov, V.3
-
109
-
-
0020606672
-
Gene deletion as the molecular basis for the Kenya-G gamma-HPFH condition
-
Ojwang PJ, Nakatsuji T, Gardiner MB, Reese AL, Gilman JG, Huisman TH (1983) Gene deletion as the molecular basis for the Kenya-G gamma-HPFH condition. Hemoglobin 7:115-123.
-
(1983)
Hemoglobin
, vol.7
, pp. 115-123
-
-
Ojwang, P.J.1
Nakatsuji, T.2
Gardiner, M.B.3
Reese, A.L.4
Gilman, J.G.5
Huisman, T.H.6
-
110
-
-
0026502027
-
Sequence variations in the 5' hypersensitive site-2 of the locus control region of betaS 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, Lanclos KD (1992) Sequence variations in the 5' hypersensitive site-2 of the locus control region of betaS chromosomes are associated with different levels of fetal globin in hemoglobin S homozygotes. Blood 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
Lanclos, K.D.7
-
111
-
-
0019949838
-
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster
-
Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJ (1982) Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature 296:627-631.
-
(1982)
Nature
, vol.296
, pp. 627-631
-
-
Orkin, S.H.1
Kazazian, H.H.2
Antonarakis, S.E.3
Goff, S.C.4
Boehm, C.D.5
Sexton, J.P.6
Waber, P.G.7
Giardina, P.J.8
-
112
-
-
0020376275
-
Abnormal RNA processing due to the exon mutation of beta E-globin gene
-
Orkin SH, Kazazian HH Jr, Antonarakis SE, Ostrer H, Goff SC, Sexton JP (1982) Abnormal RNA processing due to the exon mutation of beta E-globin gene. Nature 300:768-769.
-
(1982)
Nature
, vol.300
, pp. 768-769
-
-
Orkin, S.H.1
Kazazian, H.H.2
Antonarakis, S.E.3
Ostrer, H.4
Goff, S.C.5
Sexton, J.P.6
-
113
-
-
0020679159
-
Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis
-
Orkin SH, Markham AF, Kazazian HH (1983) Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis. J Clin Invest 71:775-779.
-
(1983)
J Clin Invest
, vol.71
, pp. 775-779
-
-
Orkin, S.H.1
Markham, A.F.2
Kazazian, H.H.3
-
114
-
-
0021176440
-
Base substitution at position -88 in a beta-thalassemic globin gene further evidence for the role of distal promoter element ACACCC
-
Orkin SH, Antonarakis SE, Kazazian HH Jr (1984) Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC. J Biol Chem 259:8679-8681.
-
(1984)
J Biol Chem
, vol.259
, pp. 8679-8681
-
-
Orkin, S.H.1
Antonarakis, S.E.2
Kazazian, H.H.3
-
115
-
-
0022021842
-
Thalassemia due to a mutation in the cleavagepolyadenylation signal of the human beta-globin gene
-
Orkin SH, Cheng TC, Antonarakis SE, Kazazian HH Jr (1985) Thalassemia due to a mutation in the cleavagepolyadenylation signal of the human beta-globin gene. EMBO J 4:453-456.
-
(1985)
EMBO J
, vol.4
, pp. 453-456
-
-
Orkin, S.H.1
Cheng, T.C.2
Antonarakis, S.E.3
Kazazian, H.H.4
-
116
-
-
0018353764
-
Globin gene deletion in HPFH, delta0beta0 thalassemia and Hb Lepore disease
-
Ottolenghi S, Giglioni B, Comi P, Gianni AM, Polli E, Acquaye CT, Oldham JH, Masera G (1979) Globin gene deletion in HPFH, delta0beta0 thalassemia and Hb Lepore disease. Nature 278:654-657.
-
(1979)
Nature
, vol.278
, pp. 654-657
-
-
Ottolenghi, S.1
Giglioni, B.2
Comi, P.3
Gianni, A.M.4
Polli, E.5
Acquaye, C.T.6
Oldham, J.H.7
Masera, G.8
-
117
-
-
33745126299
-
Understanding mechanisms of gamma-globin gene regulation to develop strategies for pharmacological fetal hemoglobin induction
-
Pace BS, Zein S (2006) Understanding mechanisms of gamma-globin gene regulation to develop strategies for pharmacological fetal hemoglobin induction. Dev Dyn 235:1727-1737.
-
(2006)
Dev Dyn
, vol.235
, pp. 1727-1737
-
-
Pace, B.S.1
Zein, S.2
-
118
-
-
0344620583
-
Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa
-
Pagnier J, Mears JG, Dunda-Belkhodja O, Schaefer-Rego KE, Beldjord C, Nagel RL, Labie D (1984) Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. Proc Natl Acad Sci USA 81:1771-1773.
-
(1984)
Proc Natl Acad Sci USA
, vol.81
, pp. 1771-1773
-
-
Pagnier, J.1
Mears, J.G.2
Dunda-Belkhodja, O.3
Schaefer-Rego, K.E.4
Beldjord, C.5
Nagel, R.L.6
Labie, D.7
-
119
-
-
0141730403
-
The beta-globin nuclear compartment in development and erythroid differentiation
-
Palstra RJ, Tolhuis B, Splinter E, Nijmeijer R, Grosveld F, de Laat W (2003) The beta-globin nuclear compartment in development and erythroid differentiation. Nat Genet 35:190-194.
-
(2003)
Nat Genet
, vol.35
, pp. 190-194
-
-
Palstra, R.J.1
Tolhuis, B.2
Splinter, E.3
Nijmeijer, R.4
Grosveld, F.5
De Laat, W.6
-
120
-
-
32144453679
-
Mutation screening in the human epsilon-globin gene using single-strand conformation polymorphism analysis
-
Papachatzopoulou A, Menounos PG, Kolonelou C, Patrinos GP (2006) Mutation screening in the human epsilon-globin gene using single-strand conformation polymorphism analysis. Am J Hematol 81:136-138.
-
(2006)
Am J Hematol
, vol.81
, pp. 136-138
-
-
Papachatzopoulou, A.1
Menounos, P.G.2
Kolonelou, C.3
Patrinos, G.P.4
-
121
-
-
33644835380
-
Genotypic heterogeneity and correlation to intergenic haplotype within high HbF beta-thalassemia intermedia
-
Papachatzopoulou A, Kourakli A, Makropoulou P, Kakagianne T, Sgourou A, Papadakis M, Athanassiadou A (2006) Genotypic heterogeneity and correlation to intergenic haplotype within high HbF beta-thalassemia intermedia. Eur J Haematol 76:322-330.
-
(2006)
Eur J Haematol
, vol.76
, pp. 322-330
-
-
Papachatzopoulou, A.1
Kourakli, A.2
Makropoulou, P.3
Kakagianne, T.4
Sgourou, A.5
Papadakis, M.6
Athanassiadou, A.7
-
122
-
-
35548945031
-
Increased fetal hemoglobin levels in beta-thalassemia intermedia patients correlates with a mutation in 3'HS1
-
Papachatzopoulou A, Kaimakis P, Pourfarzad F, Menounos PG, Pappa M, Kollia P, Grosveld FG, Patrinos GP (2007) Increased fetal hemoglobin levels in beta-thalassemia intermedia patients correlates with a mutation in 3'HS1. Am J Hematol 82:1005-1009.
-
(2007)
Am J Hematol
, vol.82
, pp. 1005-1009
-
-
Papachatzopoulou, A.1
Kaimakis, P.2
Pourfarzad, F.3
Menounos, P.G.4
Pappa, M.5
Kollia, P.6
Grosveld, F.G.7
Patrinos, G.P.8
-
123
-
-
0033049472
-
Contribution of gene conversion in the evolution of the human beta-like globin gene family
-
Papadakis MN, Patrinos GP (1999) Contribution of gene conversion in the evolution of the human beta-like globin gene family. Hum Genet 104:117-125.
-
(1999)
Hum Genet
, vol.104
, pp. 117-125
-
-
Papadakis, M.N.1
Patrinos, G.P.2
-
124
-
-
0036238890
-
A comparative study of Greek nondeletional hereditary persistence of fetal hemoglobin and beta-thalassemia compound heterozygotes
-
Papadakis MN, Patrinos GP, Tsaftaridis P, Loutradi- Anagnostou A (2002) A comparative study of Greek nondeletional hereditary persistence of fetal hemoglobin and beta-thalassemia compound heterozygotes. J Mol Med 80:243-247.
-
(2002)
J Mol Med
, vol.80
, pp. 243-247
-
-
Papadakis, M.N.1
Patrinos, G.P.2
Tsaftaridis, P.3
Loutradi-Anagnostou, A.4
-
125
-
-
39249085963
-
Pharmacogenomics and therapeutics of hemoglobinopathies
-
Patrinos GP, Grosveld FG (2008) Pharmacogenomics and therapeutics of hemoglobinopathies. Hemoglobin 32:229-233.
-
(2008)
Hemoglobin
, vol.32
, pp. 229-233
-
-
Patrinos, G.P.1
Grosveld, F.G.2
-
126
-
-
0031879058
-
The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [Agamma -158 C>T] results from two independent gene conversion events
-
Patrinos GP, Kollia P, Loutradi-Anagnostou A, Loukopoulos D, Papadakis MN (1998) The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [Agamma -158 C>T] results from two independent gene conversion events. Hum Genet 102:629-634.
-
(1998)
Hum Genet
, vol.102
, pp. 629-634
-
-
Patrinos, G.P.1
Kollia, P.2
Loutradi-Anagnostou, A.3
Loukopoulos, D.4
Papadakis, M.N.5
-
127
-
-
0034746402
-
Agamma-haplotypes: A new group of genetic markers for thalassemic mutations inside the 5' regulatory region of the human Agamma-globin gene
-
Patrinos GP, Kollia P, Papapanagiotou E, Loutradi- Anagnostou A, Loukopoulos D, Papadakis MN (2001) Agamma-haplotypes: A new group of genetic markers for thalassemic mutations inside the 5' regulatory region of the human Agamma-globin gene. Am J Hematol 66:99-104.
-
(2001)
Am J Hematol
, vol.66
, pp. 99-104
-
-
Patrinos, G.P.1
Kollia, P.2
Papapanagiotou, E.3
Loutradi-, A.A.4
Loukopoulos, D.5
Papadakis, M.N.6
-
128
-
-
0347125141
-
Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies
-
Patrinos GP, Giardine B, Riemer C, Miller W, Chui DH, Anagnou NP, Wajcman H, Hardison RC (2004) Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res 32: D537-D541.
-
(2004)
Nucleic Acids Res
, vol.32
, pp. D537-D541
-
-
Patrinos, G.P.1
Giardine, B.2
Riemer, C.3
Miller, W.4
Chui, D.H.5
Anagnou, N.P.6
Wajcman, H.7
Hardison, R.C.8
-
129
-
-
2942657608
-
Multiple interactions between regulatory regions are required to stabilize an active chromatin hub
-
Patrinos GP, de Krom M, de Boer E, Langeveld A, Imam AM, Strouboulis J, de Laat W, Grosveld FG (2004) Multiple interactions between regulatory regions are required to stabilize an active chromatin hub. Genes Dev 18:1495-1509.
-
(2004)
Genes Dev
, vol.18
, pp. 1495-1509
-
-
Patrinos, G.P.1
De Krom, M.2
De Boer, E.3
Langeveld, A.4
Imam, A.M.5
Strouboulis, J.6
De Laat, W.7
Grosveld, F.G.8
-
130
-
-
27644467092
-
Molecular diagnosis of inherited disorders: Lessons from hemoglobinopathies
-
Patrinos GP, Kollia P, Papadakis MN (2005) Molecular diagnosis of inherited disorders: Lessons from hemoglobinopathies. Hum Mutat 26:399-412.
-
(2005)
Hum Mutat
, vol.26
, pp. 399-412
-
-
Patrinos, G.P.1
Kollia, P.2
Papadakis, M.N.3
-
132
-
-
34447555283
-
Relation between structure and sequence of haemoglobin
-
Perutz MF (1962) Relation between structure and sequence of haemoglobin. Nature 194:914-917.
-
(1962)
Nature
, vol.194
, pp. 914-917
-
-
Perutz, M.F.1
-
133
-
-
27644442199
-
Genetic counseling and ethics in molecular diagnostics
-
Patrinos GP, Ansorge W (eds), Academic, San Diego
-
Petrou M (2005) Genetic counseling and ethics in molecular diagnostics. In: Patrinos GP, Ansorge W (eds) Molecular diagnostics. Academic, San Diego, pp 399-407.
-
(2005)
Molecular Diagnostics
, pp. 399-407
-
-
Petrou, M.1
-
134
-
-
0029609935
-
Prenatal screening for haemoglobin disorders
-
Petrou M, Modell B (1995) Prenatal screening for haemoglobin disorders. Prenat Diagn 15:1275-1295.
-
(1995)
Prenat Diagn
, vol.15
, pp. 1275-1295
-
-
Petrou, M.1
Modell, B.2
-
135
-
-
0020504089
-
Prenatal diagnosis of beta-thalassemia. Detection of a single nucleotide mutation in DNA
-
Pirastu M, Kan YW, Cao A, Conner BJ, Teplitz RL, Wallace RB (1983) Prenatal diagnosis of beta-thalassemia. Detection of a single nucleotide mutation in DNA. N Engl J Med 309:284-287.
-
(1983)
N Engl J Med
, vol.309
, pp. 284-287
-
-
Pirastu, M.1
Kan, Y.W.2
Cao, A.3
Conner, B.J.4
Teplitz, R.L.5
Wallace, R.B.6
-
136
-
-
0023268583
-
The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population
-
Pirastu M, Galanello R, Doherty MA, Tuveri T, Cao A, Kan YW (1987) The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population. Proc Natl Acad Sci USA 84:2882-2885.
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 2882-2885
-
-
Pirastu, M.1
Galanello, R.2
Doherty, M.A.3
Tuveri, T.4
Cao, A.5
Kan, Y.W.6
-
137
-
-
0028238339
-
A potential regulatory region for the expression of fetal hemoglobin in sickle cell disease
-
Pissard S, Beuzard Y (1994) A potential regulatory region for the expression of fetal hemoglobin in sickle cell disease. Blood 84:331-338.
-
(1994)
Blood
, vol.84
, pp. 331-338
-
-
Pissard, S.1
Beuzard, Y.2
-
138
-
-
0019122737
-
Structure and in vitro transcription of human globin genes
-
Proudfoot NJ, Shander MH, Manley JL, Gefter ML, Maniatis T (1980) Structure and in vitro transcription of human globin genes. Science 209:1329-1336.
-
(1980)
Science
, vol.209
, pp. 1329-1336
-
-
Proudfoot, N.J.1
Shander, M.H.2
Manley, J.L.3
Gefter, M.L.4
Maniatis, T.5
-
139
-
-
0025641099
-
Structure and function of the enhancer 3' to the human A gamma globin gene
-
Purucker M, Bodine D, Lin H, McDonagh K, Nienhuis AW (1990) Structure and function of the enhancer 3' to the human A gamma globin gene. Nucleic Acids Res 18:7407-7415.
-
(1990)
Nucleic Acids, Res
, vol.18
, pp. 7407-7415
-
-
Purucker, M.1
Bodine, D.2
Lin, H.3
McDonagh, K.4
Nienhuis, A.W.5
-
140
-
-
33846005126
-
Molecular therapies in beta-thalassaemia
-
Quek L, Thein SL (2007) Molecular therapies in beta-thalassaemia. Br J Haematol 136:353-365.
-
(2007)
Br J Haematol
, vol.136
, pp. 353-365
-
-
Quek, L.1
Thein, S.L.2
-
141
-
-
0017794616
-
Genetic recombination: Strand transfer and mismatch repair
-
Radding CM (1978) Genetic recombination: Strand transfer and mismatch repair. Annu Rev Biochem 47:847-880.
-
(1978)
Annu Rev Biochem
, vol.47
, pp. 847-880
-
-
Radding, C.M.1
-
142
-
-
0025602457
-
Autonomous developmental control of human embryonic globin gene switching in transgenic mice
-
Raich N, Enver T, Nakamoto B, Josephson B, Papayannopoulou T, Stamatoyannopoulos G (1990) Autonomous developmental control of human embryonic globin gene switching in transgenic mice. Science 250:1147-1149.
-
(1990)
Science
, vol.250
, pp. 1147-1149
-
-
Raich, N.1
Enver, T.2
Nakamoto, B.3
Josephson, B.4
Papayannopoulou, T.5
Stamatoyannopoulos, G.6
-
143
-
-
0022401905
-
High performance liquid chromatography in the diagnosis of hemoglobinopathies and thalassemias report of three cases
-
Rogers BB, Wessels RA, Ou CN, Buffone GJ (1985) High performance liquid chromatography in the diagnosis of hemoglobinopathies and thalassemias. Report of three cases. Am J Clin Pathol 84:671-674.
-
(1985)
Am J Clin Pathol
, vol.84
, pp. 671-674
-
-
Rogers, B.B.1
Wessels, R.A.2
Ou, C.N.3
Buffone, G.J.4
-
144
-
-
0026042157
-
Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alphaglobin structural genes
-
Romao L, Osorio-Almeida L, Higgs DR, Lavinha J, Liebhaber SA (1991) Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alphaglobin structural genes. Blood 78:1589-1595.
-
(1991)
Blood
, vol.78
, pp. 1589-1595
-
-
Romao, L.1
Osorio-Almeida, L.2
Higgs, D.R.3
Lavinha, J.4
Liebhaber, S.A.5
-
145
-
-
0024490115
-
High-level erythroid expression of human alpha-globin genes in transgenic mice
-
Ryan TM, Behringer RR, Townes TM, Palmiter RD, Brinster RL (1989) High-level erythroid expression of human alpha-globin genes in transgenic mice. Proc Natl Acad Sci USA 86:37-41.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 37-41
-
-
Ryan, T.M.1
Behringer, R.R.2
Townes, T.M.3
Palmiter, R.D.4
Brinster, R.L.5
-
146
-
-
0022372670
-
Enzymatic amplification of betaglobin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia
-
Saiki RK, Scharf S, Faloona F, Mullis KB, Horn GT, Erlich HA, Arnheim N (1985) Enzymatic amplifi cation of betaglobin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 230:1350-1354.
-
(1985)
Science
, vol.230
, pp. 1350-1354
-
-
Saiki, R.K.1
Scharf, S.2
Faloona, F.3
Mullis, K.B.4
Horn, G.T.5
Erlich, H.A.6
Arnheim, N.7
-
147
-
-
0023753018
-
Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplifi ed DNA and nonradioactive allele-specific oligonucleotide probes
-
Saiki RK, Chang CA, Levenson CH, Warren TC, Boehm CD, Kazazian HH Jr, Erlich HA (1988) Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplifi ed DNA and nonradioactive allele-specific oligonucleotide probes. N Engl J Med 319:537-541.
-
(1988)
N Engl J Med
, vol.319
, pp. 537-541
-
-
Saiki, R.K.1
Chang, C.A.2
Levenson, C.H.3
Warren, T.C.4
Boehm, C.D.5
Kazazian, H.H.6
Erlich, H.A.7
-
148
-
-
84908734354
-
Human gamma chains: Structural features
-
Stamatoyannopoulos G, Nienhuis A (eds), Grune and Stratton, New York
-
Schroeder WA, Huisman TH (1978) Human gamma chains: Structural features. In: Stamatoyannopoulos G, Nienhuis A (eds) Cellular and molecular regulation of hemoglobin switching. Grune and Stratton, New York, pp 29-45.
-
(1978)
Cellular and Molecular Regulation of Hemoglobin Switching
, pp. 29-45
-
-
Schroeder, W.A.1
Huisman, T.H.2
-
149
-
-
0018154715
-
The morbidity of sickle cell trait a review of the literature
-
Sears DA (1978) The morbidity of sickle cell trait a review of the literature. Am J Med 64:1021-1036.
-
(1978)
Am J Med
, vol.64
, pp. 1021-1036
-
-
Sears, D.A.1
-
150
-
-
0027273412
-
The clinical features of sickle cell disease
-
Serjeant GR (1993) The clinical features of sickle cell disease. Baillieres Clin Haematol 6:93-115.
-
(1993)
Baillieres Clin Haematol
, vol.6
, pp. 93-115
-
-
Serjeant, G.R.1
-
151
-
-
0026494778
-
Analysis of the human alpha globin upstream regulatory element (HS-40) in transgenic mice
-
Sharpe JA, Chan-Thomas PS, Lida J, Ayyub H, Wood WG, Higgs DR (1992) Analysis of the human alpha globin upstream regulatory element (HS-40) in transgenic mice. EMBO J 11:4565-4572.
-
(1992)
EMBO J
, vol.11
, pp. 4565-4572
-
-
Sharpe, J.A.1
Chan-Thomas, P.S.2
Lida, J.3
Ayyub, H.4
Wood, W.G.5
Higgs, D.R.6
-
152
-
-
0019790943
-
A history of the human fetal globin gene duplication
-
Shen S, Slightom JL, Smithies O (1981) A history of the human fetal globin gene duplication. Cell 26:191-203.
-
(1981)
Cell
, vol.26
, pp. 191-203
-
-
Shen, S.1
Slightom, J.L.2
Smithies, O.3
-
153
-
-
17944382111
-
Developmental regulation of DNA replication timing at the human beta globin locus
-
Simon I, Tenzen T, Mostoslavsky R, Fibach E, Lande L, Milot E, Gribnau J, Grosveld F, Fraser P, Cedar H (2001) Developmental regulation of DNA replication timing at the human beta globin locus. EMBO J 20:6150-6157.
-
(2001)
EMBO J
, vol.20
, pp. 6150-6157
-
-
Simon, I.1
Tenzen, T.2
Mostoslavsky, R.3
Fibach, E.4
Lande, L.5
Milot, E.6
Gribnau, J.7
Grosveld, F.8
Fraser, P.9
Cedar, H.10
-
154
-
-
0018952782
-
Human fetal G-gamma- And A-gamma-globin genes: Complete nucleotide sequences suggest that DNA can be exchanged in these duplicated genes
-
Slighton JL, Blechl AE, Smithies O (1980) Human fetal G-gamma- And A-gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged in these duplicated genes. Cell 21:627-638.
-
(1980)
Cell
, vol.21
, pp. 627-638
-
-
Slighton, J.L.1
Blechl, A.E.2
Smithies, O.3
-
155
-
-
0025608801
-
Developmental regulation of the human zeta globin gene in transgenic mice
-
Spangler EA, Andrews KA, Rubin EM (1990) Developmental regulation of the human zeta globin gene in transgenic mice. Nucleic Acids Res 18:7093-7097.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 7093-7097
-
-
Spangler, E.A.1
Andrews, K.A.2
Rubin, E.M.3
-
156
-
-
0018962603
-
Complete nucleotide sequence of the human delta-globin gene
-
Spritz RA, DeRiel JK, Forget BG, Weissman SM (1980) Complete nucleotide sequence of the human delta-globin gene. Cell 21:639-646.
-
(1980)
Cell
, vol.21
, pp. 639-646
-
-
Spritz, R.A.1
DeRiel, J.K.2
Forget, B.G.3
Weissman, S.M.4
-
157
-
-
0015461265
-
The molecular basis of hemoglobin disease
-
Stamatoyannopoulos G (1972) The molecular basis of hemoglobin disease. Annu Rev Genet 6:47.
-
(1972)
Annu Rev Genet
, vol.6
, pp. 47
-
-
Stamatoyannopoulos, G.1
-
158
-
-
0000831381
-
Hemoglobin switching
-
Stamatoyannopoulos G, Majerus PW, Perlmutter RM, Varmus H (eds), 3rd edn. WB Saunders and Company, Philadelphia, PA
-
Stamatoyannopoulos G, Grosveld F (2001) Hemoglobin switching. In: Stamatoyannopoulos G, Majerus PW, Perlmutter RM, Varmus H (eds) The molecular basis of blood diseases, 3rd edn. WB Saunders and Company, Philadelphia, PA, pp 135-182.
-
(2001)
The Molecular Basis of Blood Diseases
, pp. 135-182
-
-
Stamatoyannopoulos, G.1
Grosveld, F.2
-
159
-
-
0027367941
-
Developmental regulation of human gamma-globin genes in transgenic mice
-
Stamatoyannopoulos G, Josephson B, Zhang JW, Li Q (1993) Developmental regulation of human gamma-globin genes in transgenic mice. Mol Cell Biol 13:7636-7644.
-
(1993)
Mol Cell Biol
, vol.13
, pp. 7636-7644
-
-
Stamatoyannopoulos, G.1
Josephson, B.2
Zhang, J.W.3
Li, Q.4
-
160
-
-
11244252826
-
Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies
-
Steensma DP, Gibbons RJ, Higgs DR (2005) Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies. Blood 105:443-452.
-
(2005)
Blood
, vol.105
, pp. 443-452
-
-
Steensma, D.P.1
Gibbons, R.J.2
Higgs, D.R.3
-
161
-
-
20044367676
-
Predicting clinical severity in sickle cell anaemia
-
Steinberg MH (2005) Predicting clinical severity in sickle cell anaemia. Br J Haematol 129:465-481.
-
(2005)
Br J Haematol
, vol.129
, pp. 465-481
-
-
Steinberg, M.H.1
-
162
-
-
0025925290
-
Hemoglobin A2: Origin, evolution, and aftermath
-
Steinberg MH, Adams JG 3rd (1991) Hemoglobin A2: origin, evolution, and aftermath. Blood 78:2165-2177.
-
(1991)
Blood
, vol.78
, pp. 2165-2177
-
-
Steinberg, M.H.1
Adams, J.G.2
-
163
-
-
0036765860
-
Restoration of human beta-globin gene expression in murine and human IVS2-654 thalassemic erythroid cells by free uptake of antisense oligonucleotides
-
Suwanmanee T, Sierakowska H, Lacerra G, Svasti S, Kirby S, Walsh CE, Fucharoen S, Kole R (2002) Restoration of human beta-globin gene expression in murine and human IVS2-654 thalassemic erythroid cells by free uptake of antisense oligonucleotides. Mol Pharmacol 62:545-553.
-
(2002)
Mol Pharmacol
, vol.62
, pp. 545-553
-
-
Suwanmanee, T.1
Sierakowska, H.2
Lacerra, G.3
Svasti, S.4
Kirby, S.5
Walsh, C.E.6
Fucharoen, S.7
Kole, R.8
-
164
-
-
0006228023
-
The inheritance of sickle cell anaemia in man
-
Taliaferro WH, Huck JG (1923) The inheritance of sickle cell anaemia in man. Genetics 8:594.
-
(1923)
Genetics
, vol.8
, pp. 594
-
-
Taliaferro, W.H.1
Huck, J.G.2
-
165
-
-
0025292312
-
Molecular basis of for dominantly inherited inclusion body beta-thalassemias
-
Thein SL, Hesketh C, Taylor P, Temperley IJ, Hutchinson RM, Old JM, Wood WG, Clegg JB, Weatherall DJ (1990) Molecular basis of for dominantly inherited inclusion body beta-thalassemias. Proc Natl Acad Sci USA 87:3 924-3928.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, Issue.3
, pp. 924-3928
-
-
Thein, S.L.1
Hesketh, C.2
Taylor, P.3
Temperley, I.J.4
Hutchinson, R.M.5
Old, J.M.6
Wood, W.G.7
Clegg, J.B.8
Weatherall, D.J.9
-
166
-
-
0036923833
-
Looping and interaction between hypersensitive sites in the active beta-globin locus
-
Tolhuis B, Palstra RJ, Splinter E, Grosveld F, de Laat W (2002) Looping and interaction between hypersensitive sites in the active beta-globin locus. Mol Cell 10:1453-1465.
-
(2002)
Mol Cell
, vol.10
, pp. 1453-1465
-
-
Tolhuis, B.1
Palstra, R.J.2
Splinter, E.3
Grosveld, F.4
De Laat, W.5
-
167
-
-
0020620321
-
Specific transcription and RNA splicing defects in five cloned betathalassaemia genes
-
Treisman R, Orkin SH, Maniatis T (1983) Specific transcription and RNA splicing defects in five cloned betathalassaemia genes. Nature 302:591-596.
-
(1983)
Nature
, vol.302
, pp. 591-596
-
-
Treisman, R.1
Orkin, S.H.2
Maniatis, T.3
-
168
-
-
0026482145
-
Transcription of the hypersensitive site HS2 enhancer in erythroid cells
-
Tuan D, Kong S, Hu K (1992) Transcription of the hypersensitive site HS2 enhancer in erythroid cells. Proc Natl Acad Sci USA 89:11219-11223.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 11219-11223
-
-
Tuan, D.1
Kong, S.2
Hu, K.3
-
169
-
-
0038581890
-
Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease
-
Tufarelli C, Stanley JA, Garrick D, Sharpe JA, Ayyub H, Wood WG, Higgs DR (2003) Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. Nat Genet 34: 157-165.
-
(2003)
Nat Genet
, vol.34
, pp. 157-165
-
-
Tufarelli, C.1
Stanley, J.A.2
Garrick, D.3
Sharpe, J.A.4
Ayyub, H.5
Wood, W.G.6
Higgs, D.R.7
-
170
-
-
18244385279
-
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy
-
Viprakasit V, Gibbons RJ, Broughton BC, Tolmie JL, Brown D, Lunt P, Winter RM, Marinoni S, Stefanini M, Brueton L, Lehmann AR, Higgs DR (2001) Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. Hum Mol Genet 10:2797-2802.
-
(2001)
Hum Mol Genet
, 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
-
171
-
-
0025022555
-
Recurrent acute splenic sequestration crisis due to interacting genetic defects: Hemoglobin SC disease and hereditary spherocytosis
-
Warkentin TE, Barr RD, Ali MA, Mohandas N (1990) Recurrent acute splenic sequestration crisis due to interacting genetic defects: Hemoglobin SC disease and hereditary spherocytosis. Blood 75:266-270.
-
(1990)
Blood
, vol.75
, pp. 266-270
-
-
Warkentin, T.E.1
Barr, R.D.2
Ali, M.A.3
Mohandas, N.4
-
172
-
-
0025278966
-
A factor binding GATAAG confers tissue specificity on the promoter of the human zeta-globin gene
-
Watt P, Lamb P, Squire L, Proudfoot N (1990) A factor binding GATAAG confers tissue specificity on the promoter of the human zeta-globin gene. Nucleic Acids Res 18:1339-1350.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 1339-1350
-
-
Watt, P.1
Lamb, P.2
Squire, L.3
Proudfoot, N.4
-
173
-
-
0023546567
-
Common genetic disorders of the red cell and the 'malaria hypothesis'
-
Weatherall DJ (1987) Common genetic disorders of the red cell and the 'malaria hypothesis'. Ann Trop Med Parasitol 81:539-548.
-
(1987)
Ann Trop Med Parasitol
, vol.81
, pp. 539-548
-
-
Weatherall, D.J.1
-
175
-
-
0001167586
-
Mediterranean diseasethalassemia (erythroblastic anemia of Cooley); associated pigment abnormalities simulating hemochromatosis
-
Whipple GH, Bradford WL (1933) Mediterranean diseasethalassemia (erythroblastic anemia of Cooley); associated pigment abnormalities simulating hemochromatosis. J Pediatr 9:279-311.
-
(1933)
J Pediatr
, vol.9
, pp. 279-311
-
-
Whipple, G.H.1
Bradford, W.L.2
-
176
-
-
0029051646
-
Transcription complex stability and chromatin dynamics in vivo
-
Wijgerde M, Grosveld F, Fraser P (1995) Transcription complex stability and chromatin dynamics in vivo. Nature 377:209-213.
-
(1995)
Nature
, vol.377
, pp. 209-213
-
-
Wijgerde, M.1
Grosveld, F.2
Fraser, P.3
-
177
-
-
0029829779
-
The role of EKLF in human beta-globin gene competition
-
Wijgerde M, Gribnau J, Trimborn T, Nuez B, Philipsen S, Grosveld F, Fraser P (1996) The role of EKLF in human beta-globin gene competition. Genes Dev 10:2894-2902.
-
(1996)
Genes Dev
, vol.10
, pp. 2894-2902
-
-
Wijgerde, M.1
Gribnau, J.2
Trimborn, T.3
Nuez, B.4
Philipsen, S.5
Grosveld, F.6
Fraser, P.7
-
178
-
-
0017124006
-
Haemoglobin synthesis during human fetal development
-
Wood WG (1976) Haemoglobin synthesis during human fetal development. Br Med Bull 32:282-287.
-
(1976)
Br Med Bull
, vol.32
, pp. 282-287
-
-
Wood, W.G.1
-
179
-
-
6344240976
-
Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients
-
Yavarian M, Karimi M, Bakker E, Harteveld CL, Giordano PC (2004) Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients. Haematologica 89:1172-1178.
-
(2004)
Haematologica
, vol.89
, pp. 1172-1178
-
-
Yavarian, M.1
Karimi, M.2
Bakker, E.3
Harteveld, C.L.4
Giordano, P.C.5
-
180
-
-
0037105495
-
X-linked thrombocytopenia with thalassemia from a mutation in the amino fi nger of GATA-1 affecting DNA binding rather than FOG-1 interaction
-
Yu C, Niakan KK, Matsushita M, Stamatoyannopoulos G, Orkin SH, Raskind WH (2002) X-linked thrombocytopenia with thalassemia from a mutation in the amino fi nger 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
-
181
-
-
0023866477
-
Molecular basis of beta-thalassemia in South China: Strategy for DNA analysis
-
Zhang JZ, Cai SP, He X, Lin HX, Lin HJ, Huang ZG, Chehab FF, Kan YW (1988) Molecular basis of beta-thalassemia in South China: Strategy for DNA analysis. Hum Genet 78:37-40.
-
(1988)
Hum Genet
, vol.78
, pp. 37-40
-
-
Zhang, J.Z.1
Cai, S.P.2
He, X.3
Lin, H.X.4
Lin, H.J.5
Huang, Z.G.6
Chehab, F.F.7
Kan, Y.W.8
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