-
1
-
-
0004195995
-
-
eds. Philadelphia, NY: Lippincott-Raven Publishers
-
Embury SH, Hebbel RP, Mohandas N, Steinberg MH, eds. (1996). Sickle Cell Disease: Basic Principles and Clinical Practice. Philadelphia, NY: Lippincott-Raven Publishers.
-
(1996)
Sickle Cell Disease: Basic Principles and Clinical Practice
-
-
Embury, S.H.1
Hebbel, R.P.2
Mohandas, N.3
Steinberg, M.H.4
-
2
-
-
0025781654
-
Monozygotic twins with sickle cell anemia and discordant clinical courses: Clinical and laboratory studies
-
Amin BR, Bauersachs RM, Meiselman HJ, Mohandas N, Hebbel RP, Bowen PE, Schlegel RA, Williamson P, Westerman MP (1991). Monozygotic twins with sickle cell anemia and discordant clinical courses: clinical and laboratory studies. Hemoglobin 15:247-256.
-
(1991)
Hemoglobin
, vol.15
, pp. 247-256
-
-
Amin, B.R.1
Bauersachs, R.M.2
Meiselman, H.J.3
Mohandas, N.4
Hebbel, R.P.5
Bowen, P.E.6
Schlegel, R.A.7
Williamson, P.8
Westerman, M.P.9
-
3
-
-
0017253381
-
Sickle β-thalassemia: Identical twins differing in severity implicate nongenetic factors influencing course
-
Joishy SK, Griner PF, Rowley PT (1976). Sickle β-thalassemia: identical twins differing in severity implicate nongenetic factors influencing course. Am J Hematol 1:23-33.
-
(1976)
Am J Hematol
, vol.1
, pp. 23-33
-
-
Joishy, S.K.1
Griner, P.F.2
Rowley, P.T.3
-
4
-
-
0033966370
-
Genetic influences on F cells and other hematologic variables: A twin heritability study
-
Garner C, Tatu T, Reittie JE, Littlewood T, Darley J, Cervino S, Farrall M, Kelly P, Spector TD, Thein SL (2000). Genetic influences on F cells and other hematologic variables: a twin heritability study. Blood 95:342-346.
-
(2000)
Blood
, vol.95
, pp. 342-346
-
-
Garner, C.1
Tatu, T.2
Reittie, J.E.3
Littlewood, T.4
Darley, J.5
Cervino, S.6
Farrall, M.7
Kelly, P.8
Spector, T.D.9
Thein, S.L.10
-
5
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M (2004). Large-scale copy number polymorphism in the human genome. Science 305:525-528.
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
Lundin, P.6
Maner, S.7
Massa, H.8
Walker, M.9
Chi, M.10
Navin, N.11
Lucito, R.12
Healy, J.13
Hicks, J.14
Ye, K.15
Reiner, A.16
Gilliam, T.C.17
Trask, B.18
Patterson, N.19
Zetterberg, A.20
Wigler, M.21
more..
-
6
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C (2004). Detection of large-scale variation in the human genome. Nat Genet 36:949-951.
-
(2004)
Nat Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
Qi, Y.6
Scherer, S.W.7
Lee, C.8
-
7
-
-
0035865322
-
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. The International SNP Map Working Group
-
Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, Sherry S, Mullikin JC, Mortimore BJ, Willey DL, Hunt SE, Cole CG, Coggill PC, Rice CM, Ning Z, Rogers J, Bentley DR, Kwok PY, Mardis ER, Yeh RT, Schultz B, Cook L, Davenport R, Dante M, Fulton L, Hillier L, Waterston RH, McPherson JD, Gilman B, Schaffner S, Van Etten WJ, Reich D, Higgins J, Daly MJ, Blumenstiel B, Baldwin J, Stange-Thomann N, Zody MC, Linton L, Lander ES, Altshuler D (2001). A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. The International SNP Map Working Group. Nature 409:928-933.
-
(2001)
Nature
, vol.409
, pp. 928-933
-
-
Sachidanandam, R.1
Weissman, D.2
Schmidt, S.C.3
Kakol, J.M.4
Stein, L.D.5
Marth, G.6
Sherry, S.7
Mullikin, J.C.8
Mortimore, B.J.9
Willey, D.L.10
Hunt, S.E.11
Cole, C.G.12
Coggill, P.C.13
Rice, C.M.14
Ning, Z.15
Rogers, J.16
Bentley, D.R.17
Kwok, P.Y.18
Mardis, E.R.19
Yeh, R.T.20
Schultz, B.21
Cook, L.22
Davenport, R.23
Dante, M.24
Fulton, L.25
Hillier, L.26
Waterston, R.H.27
McPherson, J.D.28
Gilman, B.29
Schaffner, S.30
Van Etten, W.J.31
Reich, D.32
Higgins, J.33
Daly, M.J.34
Blumenstiel, B.35
Baldwin, J.36
Stange-Thomann, N.37
Zody, M.C.38
Linton, L.39
Lander, E.S.40
Altshuler, D.41
more..
-
8
-
-
0035895505
-
The sequence of the human genome
-
Venter JC, Adams MD, Myers EW et al. (2001). The sequence of the human genome. Science 291: 1304-1351.
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
Adams, M.D.2
Myers, E.W.3
-
9
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander ES, Linton LM, Birren B, Nusbaum C et al. (2001). Initial sequencing and analysis of the human genome. Nature 409:860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
-
10
-
-
20044369371
-
Toward genome-wide SNP genotyping
-
Syvanen AC (2005). Toward genome-wide SNP genotyping. Nat Genet 37(Suppl):S5-10.
-
(2005)
Nat Genet
, vol.37
, pp. S5-S10
-
-
Syvanen, A.C.1
-
11
-
-
0037432755
-
The Human Genome Project: Lessons from large-scale biology
-
Collins FS, Morgan M, Patrinos A (2003). The Human Genome Project: lessons from large-scale biology. Science 300:286-290.
-
(2003)
Science
, vol.300
, pp. 286-290
-
-
Collins, F.S.1
Morgan, M.2
Patrinos, A.3
-
12
-
-
0034791035
-
High-resolution haplotype structure in the human genome
-
Daly MJ, Rioux JD, Schaffner SF, Hudson TJ, Lander ES (2001). High-resolution haplotype structure in the human genome. Nat Genet 29:229-232.
-
(2001)
Nat Genet
, vol.29
, pp. 229-232
-
-
Daly, M.J.1
Rioux, J.D.2
Schaffner, S.F.3
Hudson, T.J.4
Lander, E.S.5
-
13
-
-
18444369013
-
The structure of haplotype blocks in the human genome
-
Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D (2002). The structure of haplotype blocks in the human genome. Science 296:2225-2229.
-
(2002)
Science
, vol.296
, pp. 2225-2229
-
-
Gabriel, S.B.1
Schaffner, S.F.2
Nguyen, H.3
Moore, J.M.4
Roy, J.5
Blumenstiel, B.6
Higgins, J.7
DeFelice, M.8
Lochner, A.9
Faggart, M.10
Liu-Cordero, S.N.11
Rotimi, C.12
Adeyemo, A.13
Cooper, R.14
Ward, R.15
Lander, E.S.16
Daly, M.J.17
Altshuler, D.18
-
14
-
-
79959503826
-
-
The International HapMap Project
-
The International HapMap Project (2003). Nature 426:789-796.
-
(2003)
Nature
, vol.426
, pp. 789-796
-
-
-
15
-
-
0035837267
-
Linkage disequilibrium in the human genome
-
Reich DE, Cargill M, Bolk S, Ireland J, Sabeti PC, Richter DJ, Lavery T, Kouyoumjian R, Farhadian SF, Ward R, Lander ES (2001). Linkage disequilibrium in the human genome. Nature 411:199-204.
-
(2001)
Nature
, vol.411
, pp. 199-204
-
-
Reich, D.E.1
Cargill, M.2
Bolk, S.3
Ireland, J.4
Sabeti, P.C.5
Richter, D.J.6
Lavery, T.7
Kouyoumjian, R.8
Farhadian, S.F.9
Ward, R.10
Lander, E.S.11
-
16
-
-
13144306071
-
Genome-wide association studies for common diseases and complex traits
-
Hirschhorn JN, Daly MJ (2005). Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 6:95-108.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 95-108
-
-
Hirschhorn, J.N.1
Daly, M.J.2
-
17
-
-
0021343093
-
Is there a threshold level of fetal hemoglobin that ameliorates morbidity in sickle cell anemia
-
Powars DR, Weiss JN, Chan LS, Schroeder WA (1984). Is there a threshold level of fetal hemoglobin that ameliorates morbidity in sickle cell anemia. Blood 63:921-926.
-
(1984)
Blood
, vol.63
, pp. 921-926
-
-
Powars, D.R.1
Weiss, J.N.2
Chan, L.S.3
Schroeder, W.A.4
-
18
-
-
0029025475
-
Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. Investigators of the multicenter study of hydroxyurea in sickle cell anemia
-
Charache S, Terrin ML, Moore RD, Dover GJ, Barton FB, Eckert SV, McMahon RP, Bonds DR (1995). Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. Investigators of the multicenter study of hydroxyurea in sickle cell anemia. N Engl J Med 332:1317-1322.
-
(1995)
N Engl J Med
, vol.332
, pp. 1317-1322
-
-
Charache, S.1
Terrin, M.L.2
Moore, R.D.3
Dover, G.J.4
Barton, F.B.5
Eckert, S.V.6
McMahon, R.P.7
Bonds, D.R.8
-
19
-
-
0027078611
-
A short-term trial of butyrate to stimulate fetal-globin-gene expression in the β globin disorders
-
Perrine SP, Ginder GD, Faller DV, Dover GH, Ikuta T, Witkowska HE, Cai SP, Vichinsky EP, Olivieri NF (1993). A short-term trial of butyrate to stimulate fetal-globin-gene expression in the β globin disorders. N Engl J Med 328:81-86.
-
(1993)
N Engl J Med
, vol.328
, pp. 81-86
-
-
Perrine, S.P.1
Ginder, G.D.2
Faller, D.V.3
Dover, G.H.4
Ikuta, T.5
Witkowska, H.E.6
Cai, S.P.7
Vichinsky, E.P.8
Olivieri, N.F.9
-
20
-
-
0033559320
-
Sustained induction of fetal hemoglobin by pulse butyrate therapy in sickle cell disease
-
Atweh GF, Sutton M, Nassif I, Boosalis V, Dover GJ, Wallenstein S, Wright E, McMahon L, Stamatoyannopoulos G, Faller DV, Perrine SP (1999). Sustained induction of fetal hemoglobin by pulse butyrate therapy in sickle cell disease. Blood 93:1790-1797.
-
(1999)
Blood
, vol.93
, pp. 1790-1797
-
-
Atweh, G.F.1
Sutton, M.2
Nassif, I.3
Boosalis, V.4
Dover, G.J.5
Wallenstein, S.6
Wright, E.7
McMahon, L.8
Stamatoyannopoulos, G.9
Faller, D.V.10
Perrine, S.P.11
-
21
-
-
0037309546
-
Concordant fetal hemoglobin response to hydroxyurea in siblings with sickle cell disease
-
Steinberg MH, Voskaridou E, Kutlar A, Loukopoulos D, Koshy M, Ballas SK, Castro O, Barton F (2003). Concordant fetal hemoglobin response to hydroxyurea in siblings with sickle cell disease. Am J Hematol 72:121-126.
-
(2003)
Am J Hematol
, vol.72
, pp. 121-126
-
-
Steinberg, M.H.1
Voskaridou, E.2
Kutlar, A.3
Loukopoulos, D.4
Koshy, M.5
Ballas, S.K.6
Castro, O.7
Barton, F.8
-
22
-
-
0001844022
-
Nuclear factors that regulate erythropoeisis
-
Steinberg MH, Forget BG, Higgs DR, Nagel RL, editors. Cambridge UK: Cambridge University Press
-
Blobel GA, Weiss MJ (2001). Nuclear factors that regulate erythropoeisis. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, editors. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge UK: Cambridge University Press, pp. 72-94.
-
(2001)
Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management
, pp. 72-94
-
-
Blobel, G.A.1
Weiss, M.J.2
-
23
-
-
0027204744
-
Increased HbF in adult life
-
Higgs DR, Weatherall DJ, editors. London: Baillière Tindall, W.B. Saunders
-
Wood WG (1993). Increased HbF in adult life. In: Higgs DR, Weatherall DJ, editors. Baillière’s Clinical Haematology: International Practice and Research. London: Baillière Tindall, W.B. Saunders, Vol. 6, pp. 177-213.
-
(1993)
Baillière’s Clinical Haematology: International Practice and Research
, vol.6
, pp. 177-213
-
-
Wood, W.G.1
-
25
-
-
0008445052
-
A candidate gene study of F cell levels in sibling pairs using a joint linkage and association analysis
-
Garner C, Tatu T, Game L et al. (2000). A candidate gene study of F cell levels in sibling pairs using a joint linkage and association analysis. Gene Screen 1:9-14.
-
(2000)
Gene Screen
, vol.1
, pp. 9-14
-
-
Garner, C.1
Tatu, T.2
Game, L.3
-
26
-
-
0000053102
-
Hereditary persistence of fetal hemoglobin and delta beta thalassemia
-
Steinberg MH, Forget BG, Higgs DR, Nagel RL, editors. Cambridge, UK: Cambridge University Press
-
Wood WG (2001). Hereditary persistence of fetal hemoglobin and delta beta thalassemia. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, editors. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge, UK: Cambridge University Press, pp. 356-388.
-
(2001)
Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management
, pp. 356-388
-
-
Wood, W.G.1
-
27
-
-
0023741186
-
The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: Application to prenatal diagnosis
-
Thein SL, Hesketh C, Wallace RB, Weatherall DJ (1988). The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosis. Br J Haematol 70:225-231.
-
(1988)
Br J Haematol
, vol.70
, pp. 225-231
-
-
Thein, S.L.1
Hesketh, C.2
Wallace, R.B.3
Weatherall, D.J.4
-
28
-
-
0346497365
-
Common haplotype dependency of high Ggamma-globin gene expression and high HbF 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 Ggamma-globin gene expression and high HbF 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-Belkhodja, O.5
Chardin, P.6
Beldjord, C.7
Wajcman, H.8
Fabry, M.E.9
Nagel, R.L.10
-
29
-
-
0022001839
-
Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type
-
Nagel RL, Fabry ME, Pagnier J, Zohoun I, Wajcman H, Baudin V, Labie D (1985). Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type. N Engl J Med 312:880-884.
-
(1985)
N Engl J Med
, vol.312
, pp. 880-884
-
-
Nagel, R.L.1
Fabry, M.E.2
Pagnier, J.3
Zohoun, I.4
Wajcman, H.5
Baudin, V.6
Labie, D.7
-
30
-
-
0028934536
-
Gender and haplotype effects upon hematological manifestations of adult sickle cell anemia
-
Steinberg MH, Hsu H, Nagel RL, Milner PF, Adams JG, Benjamin L, Fryd S, Gillette P, Gilman J, Josifovska O et al. (1995). Gender and haplotype effects upon hematological manifestations of adult sickle cell anemia. Am J Hematol 48:175-181.
-
(1995)
Am J Hematol
, vol.48
, pp. 175-181
-
-
Steinberg, M.H.1
Hsu, H.2
Nagel, R.L.3
Milner, P.F.4
Adams, J.G.5
Benjamin, L.6
Fryd, S.7
Gillette, P.8
Gilman, J.9
Josifovska, O.10
-
32
-
-
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, Milner PF, Adams JG, Benjamin L, Fryd S, Gillette P, Gilman J, Josifovska O et al. (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
Milner, P.F.4
Adams, J.G.5
Benjamin, L.6
Fryd, S.7
Gillette, P.8
Gilman, J.9
Josifovska, O.10
-
33
-
-
0028012604
-
Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers
-
Thein SL, Sampietro M, Rohde K, Rochette J, Weatherall DJ, Lathrop GM, Demenais F (1994). Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers. Am J Hum Genet 54:214-228.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 214-228
-
-
Thein, S.L.1
Sampietro, M.2
Rohde, K.3
Rochette, J.4
Weatherall, D.J.5
Lathrop, G.M.6
Demenais, F.7
-
34
-
-
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
-
35
-
-
9144248512
-
Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults
-
Close J, Game L, Clark BE, Bergounioux J, Gerovassili A, Thein SL (2004). Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults. BMC Genom 5:33.
-
(2004)
BMC Genom
, vol.5
, pp. 33
-
-
Close, J.1
Game, L.2
Clark, B.E.3
Bergounioux, J.4
Gerovassili, A.5
Thein, S.L.6
-
36
-
-
0036181252
-
Evidence for genetic interaction between the betaglobin complex and chromosome 8q in the expression of fetal hemoglobin
-
Garner C, Tatu T, Best S, Creary L, Thein SL (2002). Evidence for genetic interaction between the betaglobin 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.1
Tatu, T.2
Best, S.3
Creary, L.4
Thein, S.L.5
-
37
-
-
4644344794
-
Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin
-
Garner C, Silver N, Best S, Menzel S, Martin C, Spector TD, Thein SL (2004). Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin. Blood 104:2184-2186.
-
(2004)
Blood
, vol.104
, pp. 2184-2186
-
-
Garner, C.1
Silver, N.2
Best, S.3
Menzel, S.4
Martin, C.5
Spector, T.D.6
Thein, S.L.7
-
38
-
-
27644597215
-
Interaction between two quantitative trait loci affects fetal hemoglobin expression
-
Garner C, Menzel S, Martin C, Silver N, Best S, Spector TD, Thein SL (2005). Interaction between two quantitative trait loci affects fetal hemoglobin expression. Ann Hum Genet 69:707-714.
-
(2005)
Ann Hum Genet
, vol.69
, pp. 707-714
-
-
Garner, C.1
Menzel, S.2
Martin, C.3
Silver, N.4
Best, S.5
Spector, T.D.6
Thein, S.L.7
-
39
-
-
5144234546
-
Polymorphisms near a chromosome 6q QTL area are associated with modulation of fetal hemoglobin levels in sickle cell anemia
-
Wyszynski DF, Baldwin CT, Cleves MA, Amirault Y, Nolan VG, Farrell JJ, Bisbee A, Kutlar A, Farrer LA, Steinberg MH (2004). Polymorphisms near a chromosome 6q QTL area are associated with modulation of fetal hemoglobin levels in sickle cell anemia. Cell Mol Biol (Noisy-le-grand) 50:23-33.
-
(2004)
Cell Mol Biol (Noisy-le-grand)
, vol.50
, pp. 23-33
-
-
Wyszynski, D.F.1
Baldwin, C.T.2
Cleves, M.A.3
Amirault, Y.4
Nolan, V.G.5
Farrell, J.J.6
Bisbee, A.7
Kutlar, A.8
Farrer, L.A.9
Steinberg, M.H.10
-
40
-
-
0030910834
-
Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin
-
Craig JE, Rochette J, Sampietro M, Wilkie AO, Barnetson R, Hatton CS, Demenais F, Thein SL (1997). Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin. Blood 90:428-434.
-
(1997)
Blood
, vol.90
, pp. 428-434
-
-
Craig, J.E.1
Rochette, J.2
Sampietro, M.3
Wilkie, A.O.4
Barnetson, R.5
Hatton, C.S.6
Demenais, F.7
Thein, S.L.8
-
41
-
-
0002641592
-
S gene: Origins, genetic epidemiology, and epistasis in sickle cell anemia
-
Steinberg MH, Forget BG, Higgs DR, Nagel RL, editors. Cambridge, UK: Cambridge University Press
-
S gene: Origins, genetic epidemiology, and epistasis in sickle cell anemia. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, editors. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge, UK: Cambridge University Press, pp. 711-755.
-
(2001)
Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management
, pp. 711-755
-
-
Nagel, R.L.1
Steinberg, M.H.2
-
42
-
-
0025797296
-
Sickle cell anemia: Beta S-gene-cluster haplotypes as prognostic indicators of vital organ failure
-
Powars DR (1991). Sickle cell anemia: beta S-gene-cluster haplotypes as prognostic indicators of vital organ failure. Semin Hematol 28:202-208.
-
(1991)
Semin Hematol
, vol.28
, pp. 202-208
-
-
Powars, D.R.1
-
43
-
-
0022808364
-
Alpha-thalassemia in blacks: Genetic and clinical aspects and interactions with the sickle hemoglobin gene
-
Steinberg MH, Embury SH (1986). Alpha-thalassemia in blacks: genetic and clinical aspects and interactions with the sickle hemoglobin gene. Blood 68:985-990.
-
(1986)
Blood
, vol.68
, pp. 985-990
-
-
Steinberg, M.H.1
Embury, S.H.2
-
44
-
-
0020081165
-
Concurrent sickle-cell anemia and alpha-thalassemia: Effect on severity of anemia
-
Embury SH, Dozy AM, Miller J, Davis JR Jr, Kleman KM, Preisler H, Vichinsky E, Lande WN, Lubin BH, Kan YW, Mentzer WC (1982). Concurrent sickle-cell anemia and alpha-thalassemia: effect on severity of anemia. N Engl J Med 306:270-274.
-
(1982)
N Engl J Med
, vol.306
, pp. 270-274
-
-
Embury, S.H.1
Dozy, A.M.2
Miller, J.3
Davis, J.R.4
Kleman, K.M.5
Preisler, H.6
Vichinsky, E.7
Lande, W.N.8
Lubin, B.H.9
Kan, Y.W.10
Mentzer, W.C.11
-
45
-
-
0021254222
-
Effects of thalassemia and microcytosis on the hematologic and vasoocclusive severity of sickle cell anemia
-
Steinberg MH, Rosenstock W, Coleman MB et al. (1984). Effects of thalassemia and microcytosis on the hematologic and vasoocclusive severity of sickle cell anemia. Blood 63:1353-1360.
-
(1984)
Blood
, vol.63
, pp. 1353-1360
-
-
Steinberg, M.H.1
Rosenstock, W.2
Coleman, M.B.3
-
46
-
-
0030890407
-
Benign clinical course in homozygous sickle cell disease: A search for predictors
-
Thomas PW, Higgs DR, Serjeant GR (1997). Benign clinical course in homozygous sickle cell disease: a search for predictors. J Clin Epidemiol 50:121-126.
-
(1997)
J Clin Epidemiol
, vol.50
, pp. 121-126
-
-
Thomas, P.W.1
Higgs, D.R.2
Serjeant, G.R.3
-
47
-
-
4143132048
-
Are there clinical phenotypes of homozygous sickle cell disease?
-
Alexander N, Higgs D, Dover G, Serjeant GR (2004). Are there clinical phenotypes of homozygous sickle cell disease? Br J Haematol 126:606-611.
-
(2004)
Br J Haematol
, vol.126
, pp. 606-611
-
-
Alexander, N.1
Higgs, D.2
Dover, G.3
Serjeant, G.R.4
-
48
-
-
0025770390
-
Pain in sickle cell disease: Rates and risk factor
-
Platt OS, Thorington BD, Brambilla DJ, Milner PF, Rosse WF, Vichinsky E, Kinney TR (1991). Pain in sickle cell disease: rates and risk factor. N Engl J Med 325:11-16.
-
(1991)
N Engl J Med
, vol.325
, pp. 11-16
-
-
Platt, O.S.1
Thorington, B.D.2
Brambilla, D.J.3
Milner, P.F.4
Rosse, W.F.5
Vichinsky, E.6
Kinney, T.R.7
-
49
-
-
0021335218
-
Effect of transfusion therapy on arteriographic abnormalities and on recurrence of stroke in sickle cell disease
-
Russell MO, Goldberg HI, Hodson A, Kim HC, Halus J, Reivich M, Schwartz E (1984). Effect of transfusion therapy on arteriographic abnormalities and on recurrence of stroke in sickle cell disease. Blood 63:162-169.
-
(1984)
Blood
, vol.63
, pp. 162-169
-
-
Russell, M.O.1
Goldberg, H.I.2
Hodson, A.3
Kim, H.C.4
Halus, J.5
Reivich, M.6
Schwartz, E.7
-
50
-
-
0037443399
-
Stroke risk in siblings with sickle cell anemia
-
Driscoll MC, Hurlet A, Styles L, McKie V, Files B, Olivieri N, Pegelow C, Berman B, Drachtman R, Patel K, Brambilla D (2003). Stroke risk in siblings with sickle cell anemia. Blood 101:2401-2404.
-
(2003)
Blood
, vol.101
, pp. 2401-2404
-
-
Driscoll, M.C.1
Hurlet, A.2
Styles, L.3
McKie, V.4
Files, B.5
Olivieri, N.6
Pegelow, C.7
Berman, B.8
Drachtman, R.9
Patel, K.10
Brambilla, D.11
-
51
-
-
0037114628
-
Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease
-
Taylor JG, Tang DC, Savage SA, Leitman SF, Heller SI, Serjeant GR, Rodgers GP, Chanock SJ (2002). Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease. Blood 100:4303-4309.
-
(2002)
Blood
, vol.100
, pp. 4303-4309
-
-
Taylor, J.G.1
Tang, D.C.2
Savage, S.A.3
Leitman, S.F.4
Heller, S.I.5
Serjeant, G.R.6
Rodgers, G.P.7
Chanock, S.J.8
-
52
-
-
1542283710
-
Gene interactions and stroke risk in children with sickle cell anemia
-
Hoppe C, Klitz W, Cheng S, Apple R, Steiner L, Robles L, Girard T, Vichinsky E, Styles L (2004). Gene interactions and stroke risk in children with sickle cell anemia. Blood 103:2391-2396.
-
(2004)
Blood
, vol.103
, pp. 2391-2396
-
-
Hoppe, C.1
Klitz, W.2
Cheng, S.3
Apple, R.4
Steiner, L.5
Robles, L.6
Girard, T.7
Vichinsky, E.8
Styles, L.9
-
53
-
-
0034210945
-
Evidence for HLA-related susceptibility for stroke in children with sickle cell disease
-
Styles L, Hoppe C, Klitz W, Vichinsky E, Lubin B, Trachtenberg E (2000). Evidence for HLA-related susceptibility for stroke in children with sickle cell disease. Blood 95:3562-3567.
-
(2000)
Blood
, vol.95
, pp. 3562-3567
-
-
Styles, L.1
Hoppe, C.2
Klitz, W.3
Vichinsky, E.4
Lubin, B.5
Trachtenberg, E.6
-
54
-
-
0038107362
-
Distinct HLA associations by stroke subtype in children with sickle cell anemia
-
Hoppe C, Klitz W, Noble J, Vigil L, Vichinsky E, Styles L (2003). Distinct HLA associations by stroke subtype in children with sickle cell anemia. Blood 101:2865-2869.
-
(2003)
Blood
, vol.101
, pp. 2865-2869
-
-
Hoppe, C.1
Klitz, W.2
Noble, J.3
Vigil, L.4
Vichinsky, E.5
Styles, L.6
-
55
-
-
16844366938
-
Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia
-
Sebastiani P, Ramoni MF, Nolan V, Baldwin CT, Steinberg MH (2005). Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia. Nat Genet 37:435-440.
-
(2005)
Nat Genet
, vol.37
, pp. 435-440
-
-
Sebastiani, P.1
Ramoni, M.F.2
Nolan, V.3
Baldwin, C.T.4
Steinberg, M.H.5
-
56
-
-
19944430732
-
Association of single nucleotide polymorphisms in klotho with priapism in sickle cell anaemia
-
Nolan VG, Baldwin C, Ma Q, Wyszynski DF, Amirault Y, Farrell JJ, Bisbee A, Embury SH, Farrer LA, Steinberg MH (2005). Association of single nucleotide polymorphisms in klotho with priapism in sickle cell anaemia. Br J Haematol 128:266-272.
-
(2005)
Br J Haematol
, vol.128
, pp. 266-272
-
-
Nolan, V.G.1
Baldwin, C.2
Ma, Q.3
Wyszynski, D.F.4
Amirault, Y.5
Farrell, J.J.6
Bisbee, A.7
Embury, S.H.8
Farrer, L.A.9
Steinberg, M.H.10
-
57
-
-
0006866822
-
MTHFR (5,10 methylenetetrahydrofolate reductase) 677→T mutation as a candidate risk factor for avascular necrosis (AVN) in patients with sickle cell disease
-
Kutlar F, Tural C, Park D, Markowitz RB, Woods KF, Kutlar A (1998). MTHFR (5,10 methylenetetrahydrofolate reductase) 677→T mutation as a candidate risk factor for avascular necrosis (AVN) in patients with sickle cell disease. Blood 92:695a.
-
(1998)
Blood
, vol.92
, pp. 695a
-
-
Kutlar, F.1
Tural, C.2
Park, D.3
Markowitz, R.B.4
Woods, K.F.5
Kutlar, A.6
-
58
-
-
0031724415
-
Inherited DNA mutations contributing to thrombotic complications in patients with sickle cell disease
-
Zimmerman SA, Ware RE (1998). Inherited DNA mutations contributing to thrombotic complications in patients with sickle cell disease. Am J Hematol 59:267-272.
-
(1998)
Am J Hematol
, vol.59
, pp. 267-272
-
-
Zimmerman, S.A.1
Ware, R.E.2
-
59
-
-
22044456541
-
Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis
-
Baldwin C, Nolan VG, Wyszynski DF, Ma QL, Sebastiani P, Embury SH, Bisbee A, Farrell J, Farrer L, Steinberg MH (2005). Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis. Blood 106:372-375.
-
(2005)
Blood
, vol.106
, pp. 372-375
-
-
Baldwin, C.1
Nolan, V.G.2
Wyszynski, D.F.3
Ma, Q.L.4
Sebastiani, P.5
Embury, S.H.6
Bisbee, A.7
Farrell, J.8
Farrer, L.9
Steinberg, M.H.10
-
60
-
-
10744233940
-
Pulmonary hypertension as a risk factor for death in patients with sickle cell disease
-
Gladwin MT, Sachdev V, Jison ML, Shizukuda Y, Plehn JF, Minter K, Brown B, Coles WA, Nichols JS, Ernst I, Hunter LA, Blackwelder WC, Schechter AN, Rodgers GP, Castro O, Ognibene FP (2004). Pulmonary hypertension as a risk factor for death in patients with sickle cell disease. N Engl J Med 350:886-895.
-
(2004)
N Engl J Med
, vol.350
, pp. 886-895
-
-
Gladwin, M.T.1
Sachdev, V.2
Jison, M.L.3
Shizukuda, Y.4
Plehn, J.F.5
Minter, K.6
Brown, B.7
Coles, W.A.8
Nichols, J.S.9
Ernst, I.10
Hunter, L.A.11
Blackwelder, W.C.12
Schechter, A.N.13
Rodgers, G.P.14
Castro, O.15
Ognibene, F.P.16
-
61
-
-
1642458091
-
Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease
-
Sharan K, Surrey S, Ballas S, Borowski M, Devoto M, Wang KF, Sandler E, Keller M (2004). Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease. Br J Haematol 124:240-243.
-
(2004)
Br J Haematol
, vol.124
, pp. 240-243
-
-
Sharan, K.1
Surrey, S.2
Ballas, S.3
Borowski, M.4
Devoto, M.5
Wang, K.F.6
Sandler, E.7
Keller, M.8
-
62
-
-
0037114210
-
Low exhaled nitric oxide and a polymorphism in the NOS I gene is associated with acute chest syndrome
-
Sullivan KJ, Kissoon N, Duckworth LJ, Sandler E, Freeman B, Bayne E, Sylvester JE, Lima JJ (2001). Low exhaled nitric oxide and a polymorphism in the NOS I gene is associated with acute chest syndrome. Am J Respir Crit Care Med 164:2186-2190.
-
(2001)
Am J Respir Crit Care Med
, vol.164
, pp. 2186-2190
-
-
Sullivan, K.J.1
Kissoon, N.2
Duckworth, L.J.3
Sandler, E.4
Freeman, B.5
Bayne, E.6
Sylvester, J.E.7
Lima, J.J.8
-
63
-
-
0028867826
-
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert’s syndrome
-
Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP et al. (1995). The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert’s syndrome. N Engl J Med 333:1171-1175.
-
(1995)
N Engl J Med
, vol.333
, pp. 1171-1175
-
-
Bosma, P.J.1
Chowdhury, J.R.2
Bakker, C.3
Gantla, S.4
de Boer, A.5
Oostra, B.A.6
Lindhout, D.7
Tytgat, G.N.8
Jansen, P.L.9
Oude Elferink, R.P.10
-
64
-
-
0034760144
-
Influence of bilirubin uridine diphosphate-glucuronosyltransferase 1A promoter polymorphisms on serum bilirubin levels and cholelithiasis in children with sickle cell anemia
-
Passon RG, Howard TA, Zimmerman SA, Schultz WH, Ware RE (2001). Influence of bilirubin uridine diphosphate-glucuronosyltransferase 1A promoter polymorphisms on serum bilirubin levels and cholelithiasis in children with sickle cell anemia. Am J Pediatr Hematol Oncol 23:448-451.
-
(2001)
Am J Pediatr Hematol Oncol
, vol.23
, pp. 448-451
-
-
Passon, R.G.1
Howard, T.A.2
Zimmerman, S.A.3
Schultz, W.H.4
Ware, R.E.5
-
65
-
-
0043133530
-
UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia
-
Fertrin KY, Melo MB, Assis AM, Saad ST, Costa FF (2003). UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia. Clin Genet 64:160-162.
-
(2003)
Clin Genet
, vol.64
, pp. 160-162
-
-
Fertrin, K.Y.1
Melo, M.B.2
Assis, A.M.3
Saad, S.T.4
Costa, F.F.5
-
66
-
-
0037388172
-
UGT1A promoter polymorphisms influence bilirubin response to hydroxyurea therapy in sickle cell anemia
-
Heeney MM, Howard TA, Zimmerman SA, Ware RE (2003). UGT1A promoter polymorphisms influence bilirubin response to hydroxyurea therapy in sickle cell anemia. J Lab Clin Med 141:279-282.
-
(2003)
J Lab Clin Med
, vol.141
, pp. 279-282
-
-
Heeney, M.M.1
Howard, T.A.2
Zimmerman, S.A.3
Ware, R.E.4
-
67
-
-
19944433943
-
UGT1A1 variation and gallstone formation in sickle cell disease
-
Haverfield EV, McKenzie CA, Forrester T, Bouzekri N, Harding R, Serjeant G, Walker T, Peto TE, Ward R, Weatherall DJ (2004). UGT1A1 variation and gallstone formation in sickle cell disease. Blood 105:968-972.
-
(2004)
Blood
, vol.105
, pp. 968-972
-
-
Haverfield, E.V.1
McKenzie, C.A.2
Forrester, T.3
Bouzekri, N.4
Harding, R.5
Serjeant, G.6
Walker, T.7
Peto, T.E.8
Ward, R.9
Weatherall, D.J.10
-
68
-
-
4644252441
-
Polymorphism of the human platelet antigen-5 system is a risk factor for occlusive vascular complications in patients with sickle cell anemia
-
Castro V, Alberto FL, Costa RN, Lepikson-Neto J, Gualandro SF, Figueiredo MS, Annichino-Bizzacchi JM, Saad ST, Costa FF (2004). Polymorphism of the human platelet antigen-5 system is a risk factor for occlusive vascular complications in patients with sickle cell anemia. Vox Sang 87:118-123.
-
(2004)
Vox Sang
, vol.87
, pp. 118-123
-
-
Castro, V.1
Alberto, F.L.2
Costa, R.N.3
Lepikson-Neto, J.4
Gualandro, S.F.5
Figueiredo, M.S.6
Annichino-Bizzacchi, J.M.7
Saad, S.T.8
Costa, F.F.9
-
69
-
-
0034642592
-
Prediction of adverse outcomes in children with sickle cell disease
-
Miller ST, Sleeper LA, Pegelow CH, Enos LE, Wang WC, Weiner SJ, Wethers DL, Smith J, Kinney TR (2000). Prediction of adverse outcomes in children with sickle cell disease. N Engl J Med 342:83-89.
-
(2000)
N Engl J Med
, vol.342
, pp. 83-89
-
-
Miller, S.T.1
Sleeper, L.A.2
Pegelow, C.H.3
Enos, L.E.4
Wang, W.C.5
Weiner, S.J.6
Wethers, D.L.7
Smith, J.8
Kinney, T.R.9
-
70
-
-
0034776219
-
Polymorphisms within the angiotensinogen gene (GT-repeat) and the risk of stroke in pediatric patients with sickle cell disease: A case-control study
-
Tang DC, Prauner R, Liu W, Kim KH, Hirsch RP, Driscoll MC, Rodgers GP (2001). Polymorphisms within the angiotensinogen gene (GT-repeat) and the risk of stroke in pediatric patients with sickle cell disease: a case-control study. Am J Hematol 68:164-169.
-
(2001)
Am J Hematol
, vol.68
, pp. 164-169
-
-
Tang, D.C.1
Prauner, R.2
Liu, W.3
Kim, K.H.4
Hirsch, R.P.5
Driscoll, M.C.6
Rodgers, G.P.7
-
71
-
-
0343891483
-
Thrombophilic genotypes do not adversely affect the course of sickle cell disease (SCD)
-
De Castro L, Rinder HM, Howe JG, Smith BR (1998). Thrombophilic genotypes do not adversely affect the course of sickle cell disease (SCD). Blood 92:161a.
-
(1998)
Blood
, vol.92
, pp. 161a
-
-
De Castro, L.1
Rinder, H.M.2
Howe, J.G.3
Smith, B.R.4
-
72
-
-
4243463522
-
The A312G polymorphism in alpha-fibrinogen is associated with stroke and avascular necrosis in patients with sickle cell anemia
-
Zimmerman SA, Howard TA, Whorton MR, Rosse WF, Ware RE (1998). The A312G polymorphism in alpha-fibrinogen is associated with stroke and avascular necrosis in patients with sickle cell anemia. Blood 92:36b.
-
(1998)
Blood
, vol.92
, pp. 36b
-
-
Zimmerman, S.A.1
Howard, T.A.2
Whorton, M.R.3
Rosse, W.F.4
Ware, R.E.5
|