-
2
-
-
0025286355
-
Molecular pathology of thalassemia intermedia
-
Cao A, Gasperini D, Podda A, Galanello R: Molecular pathology of thalassemia intermedia. Eur J Int Med 1:227, 1990.
-
(1990)
Eur J Int Med
, vol.1
, pp. 227
-
-
Cao, A.1
Gasperini, D.2
Podda, A.3
Galanello, R.4
-
3
-
-
0029046964
-
Evaluation of a new automatic HPLC analyser for thalassemia and hemoglobin variants screening
-
Galanello R, Barella S, Gasperini D, Perseu L, Paglietti E, Sollaino C, Paderi L, Pirroni MG, Maccioni L, Mosca A: Evaluation of a new automatic HPLC analyser for thalassemia and hemoglobin variants screening. J Autom Chem 17:73, 1995.
-
(1995)
J Autom Chem
, vol.17
, pp. 73
-
-
Galanello, R.1
Barella, S.2
Gasperini, D.3
Perseu, L.4
Paglietti, E.5
Sollaino, C.6
Paderi, L.7
Pirroni, M.G.8
Maccioni, L.9
Mosca, A.10
-
4
-
-
0026686425
-
HbH disease in Sardinia: Molecular, hematological and clinical aspects
-
Galanello R, Aru B, Dessì C, Addis M, Paglietti E, Melis MA, Cocco S, Massa P, Giagu N, Barella S, Turco MP, Maccioni L, Cao A: HbH disease in Sardinia: Molecular, hematological and clinical aspects. Acta Haematol, 88:1, 1992.
-
(1992)
Acta Haematol
, vol.88
, pp. 1
-
-
Galanello, R.1
Aru, B.2
Dessì, C.3
Addis, M.4
Paglietti, E.5
Melis, M.A.6
Cocco, S.7
Massa, P.8
Giagu, N.9
Barella, S.10
Turco, M.P.11
Maccioni, L.12
Cao, A.13
-
5
-
-
0023850178
-
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
-
Saiki RK, Gelfand DH, Stoffel F, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA: Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487, 1988.
-
(1988)
Science
, vol.239
, pp. 487
-
-
Saiki, R.K.1
Gelfand, D.H.2
Stoffel, F.3
Scharf, S.J.4
Higuchi, R.5
Horn, G.T.6
Mullis, K.B.7
Erlich, H.A.8
-
6
-
-
0022450433
-
A developmentally stable chromatin structure in the human β globin gene cluster
-
Forrester WC, Thompson C, Elder JT, Groudine M: A developmentally stable chromatin structure in the human β globin gene cluster. Proc Natl Acad Sci USA 83:1359, 1986.
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 1359
-
-
Forrester, W.C.1
Thompson, C.2
Elder, J.T.3
Groudine, M.4
-
7
-
-
0025369610
-
Dnase I hypersensitive sites 1, 2 and 3 of human β-globin dominant control region direct position-independent expression
-
Fraser P, Hurst J, Collis P. Grosvel F: Dnase I hypersensitive sites 1, 2 and 3 of human β-globin dominant control region direct position-independent expression. Nucleic Acids Res 18:3503, 1990.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 3503
-
-
Fraser, P.1
Hurst, J.2
Collis, P.3
Grosvel, F.4
-
8
-
-
0026502027
-
S chromosomes are associated with different levels of fetal globin in hemoglobin S homozygotes
-
S chromosomes are associated with different levels of fetal globin in hemoglobin S homozygotes. Blood, 79:813, 1992.
-
(1992)
Blood
, vol.79
, pp. 813
-
-
Oner, C.1
Dimovski, A.J.2
Altay, C.3
-
9
-
-
0025365230
-
Detailed analysis of the site 3 region of the human β-globin dominant control region
-
Talbot D, Philipsen S, Fraser P, Grosveld F: Detailed analysis of the site 3 region of the human β-globin dominant control region. EMBO J 9:2169, 1990.
-
(1990)
EMBO J
, vol.9
, pp. 2169
-
-
Talbot, D.1
Philipsen, S.2
Fraser, P.3
Grosveld, F.4
-
11
-
-
0242581339
-
Generation of single stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQα locus
-
Gyllenstein UB, Erlich HA: Generation of single stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQα locus. Proc Natl Acad Sci USA 85:7652, 1988.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 7652
-
-
Gyllenstein, U.B.1
Erlich, H.A.2
-
12
-
-
0019949838
-
Linkage of β-thalassemia mutation and β-globin gene polymorphisms in the human β-globin gene cluster
-
Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SC, Bohem CD: Linkage of β-thalassemia mutation and β-globin gene polymorphisms in the human β-globin gene cluster. Nature 296:627, 1982.
-
(1982)
Nature
, vol.296
, pp. 627
-
-
Orkin, S.H.1
Kazazian Jr., H.H.2
Antonarakis, S.E.3
Goff, S.C.4
Bohem, C.D.5
-
13
-
-
0024376665
-
Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes
-
Sutton M, Bouhassira EE, Nagel RL: Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes. Am J Hematol 32:66, 1989.
-
(1989)
Am J Hematol
, vol.32
, pp. 66
-
-
Sutton, M.1
Bouhassira, E.E.2
Nagel, R.L.3
-
14
-
-
0027102785
-
Analysis of the β-globin gene haplotypes in Asian Indians: Origin and spread of β-thalassemia on the Indian subcontinent
-
Varawalla NY, Fitches AC, Old J: Analysis of the β-globin gene haplotypes in Asian Indians: Origin and spread of β-thalassemia on the Indian subcontinent. Hum Gen 90:443, 1992.
-
(1992)
Hum Gen
, vol.90
, pp. 443
-
-
Varawalla, N.Y.1
Fitches, A.C.2
Old, J.3
-
15
-
-
0026523536
-
Rapid identification by denaturing gel electrophoresis of mutations in the γ-globin gene promoters in non-deletion type HPFH
-
Gottardi E, Losekoot M, Fodde R, Soglio G, Camaschella C, Bernini LF: Rapid identification by denaturing gel electrophoresis of mutations in the γ-globin gene promoters in non-deletion type HPFH. Br J Haematol 80:533, 1992.
-
(1992)
Br J Haematol
, vol.80
, pp. 533
-
-
Gottardi, E.1
Losekoot, M.2
Fodde, R.3
Soglio, G.4
Camaschella, C.5
Bernini, L.F.6
-
16
-
-
0024423518
-
A common protein binds to two silencers 5′ to the human β-globin gene
-
Berg PE, Williams DM, Quian Ruo-Lan, Chen RB, Cao Shi-Xian, Mittelman M, Schecter AN: A common protein binds to two silencers 5′ to the human β-globin gene. Nucleic Acids Res 21:8833, 1989.
-
(1989)
Nucleic Acids Res
, vol.21
, pp. 8833
-
-
Berg, P.E.1
Williams, D.M.2
Ruo-Lan, Q.3
Chen, R.B.4
Shi-Xian, C.5
Mittelman, M.6
Schecter, A.N.7
-
17
-
-
0026723551
-
A β-thalassemia phenotype not linked to the β-globin cluster in an Italian family
-
Murru S, Loudianos G, Porcu S, Sciarratta GV, Agosti S, Parodi MI, Cao A, Pirastu M: A β-thalassemia phenotype not linked to the β-globin cluster in an Italian family. Br J Haematol 81:283, 1992.
-
(1992)
Br J Haematol
, vol.81
, pp. 283
-
-
Murru, S.1
Loudianos, G.2
Porcu, S.3
Sciarratta, G.V.4
Agosti, S.5
Parodi, M.I.6
Cao, A.7
Pirastu, M.8
-
18
-
-
0027202405
-
β-thalassemia unlinked to the β-globin gene in an English family
-
Thein SL, Wood WG, Wickramasinghe SN, Galvin MC: β-thalassemia unlinked to the β-globin gene in an English family. Blood 82:961, 1993.
-
(1993)
Blood
, vol.82
, pp. 961
-
-
Thein, S.L.1
Wood, W.G.2
Wickramasinghe, S.N.3
Galvin, M.C.4
-
19
-
-
85086294649
-
The repeated sequence (AT)X (T)X upstream to the β globin gene is a simple polymorphism
-
Galanello R, Meloni A, Gasperini D, Saba L, Cao A, Rosatelli MC, Perseu L: The repeated sequence (AT)X (T)X upstream to the β globin gene is a simple polymorphism. Blood 81:1974, 1993.
-
(1993)
Blood
, vol.81
, pp. 1974
-
-
Galanello, R.1
Meloni, A.2
Gasperini, D.3
Saba, L.4
Cao, A.5
Rosatelli, M.C.6
Perseu, L.7
-
20
-
-
0028983427
-
The erythroid Krüppel-like factor transactivation domain is a critical component for cell-specific inducibility of a β-globin promoter
-
Bieker JJ, Southwood CM: The erythroid Krüppel-like factor transactivation domain is a critical component for cell-specific inducibility of a β-globin promoter. Mol Cell Biol 15:852, 1995.
-
(1995)
Mol Cell Biol
, vol.15
, pp. 852
-
-
Bieker, J.J.1
Southwood, C.M.2
-
21
-
-
0028174097
-
Analyses of β-thalassemia mutant DNA interactions with erythroid kruppel-like factors (EKLF), an erythroid cell-specific transcription factor
-
Feng WC, Southwood CM, Bieker JJ: Analyses of β-thalassemia mutant DNA interactions with erythroid kruppel-like factors (EKLF), an erythroid cell-specific transcription factor. J Biol Chem 269:1493, 1994.
-
(1994)
J Biol Chem
, vol.269
, pp. 1493
-
-
Feng, W.C.1
Southwood, C.M.2
Bieker, J.J.3
-
22
-
-
24244482351
-
Erythroid Krüppel-like factor (EKLF) knock-out mice exhibit selective β-globin deficiency and die prenatally from anemia
-
Perkins AC, Sharpe AH, Orkin SH: Erythroid Krüppel-like factor (EKLF) knock-out mice exhibit selective β-globin deficiency and die prenatally from anemia. Blood 84(Suppl. 1):217a, 1994.
-
(1994)
Blood
, vol.84
, Issue.SUPPL. 1
-
-
Perkins, A.C.1
Sharpe, A.H.2
Orkin, S.H.3
-
23
-
-
0026687110
-
X-linked α-thalassemia/mental retardation (ATR-X) syndrome: Localization to Xq12-q21.31 by X inactivation and linkage analysis
-
Gibbons RJ, Suthers GK, Wilkie AOM, Buckle Vj, Higgs DR: X-linked α-thalassemia/mental retardation (ATR-X) syndrome: Localization to Xq12-q21.31 by X inactivation and linkage analysis. Am J Hum Genet 51:1136, 1992.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1136
-
-
Gibbons, R.J.1
Suthers, G.K.2
Wilkie, A.O.M.3
Buckle, Vj.4
Higgs, D.R.5
-
24
-
-
0028939603
-
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)
-
Gibbons RJ, Picketts DJ, Villard L, Higgs DR: Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome). Cell 80:837, 1995.
-
(1995)
Cell
, vol.80
, pp. 837
-
-
Gibbons, R.J.1
Picketts, D.J.2
Villard, L.3
Higgs, D.R.4
-
25
-
-
0030043739
-
Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without α-thalassemia
-
Villard L, Toutain A, Lossi AM, Gecz J, Houdayer C, Moraine C, Fontèes M: Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without α-thalassemia. Am J Hum Genet 58:499, 1996.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 499
-
-
Villard, L.1
Toutain, A.2
Lossi, A.M.3
Gecz, J.4
Houdayer, C.5
Moraine, C.6
Fontèes, M.7
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