-
1
-
-
0036190154
-
HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
-
Hardison, R. C., Chui, D. H. K., Giardine, B., Riemer, C., Patrinos, G. P., Anagnou, N., Miller, W., and 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.K.2
Giardine, B.3
Riemer, C.4
Patrinos, G.P.5
Anagnou, N.6
Miller, W.7
Wajcman, H.8
-
2
-
-
77951111633
-
-
Cambridge University Press, Cambridge
-
Steinberg, M. H., Forget, B. G., Higgs, D., and Nagel, R. L. (2001) Disorders of Haemoglobin. Cambridge University Press, Cambridge.
-
(2001)
Disorders of Haemoglobin
-
-
Steinberg, M.H.1
Forget, B.G.2
Higgs, D.3
Nagel, R.L.4
-
3
-
-
0003678651
-
-
Saunders Company, Philadelphia
-
Stamatoyannopoulos, G., Majerus, P. W., Perlmutter, R. M., and Varmus, H. (2001) The Molecular Basis of Blood Diseases. Saunders Company, Philadelphia.
-
(2001)
The Molecular Basis of Blood Diseases
-
-
Stamatoyannopoulos, G.1
Majerus, P.W.2
Perlmutter, R.M.3
Varmus, H.4
-
4
-
-
0018952782
-
aγ-globin genes: Complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes
-
Aγ-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes. Cell 21, 627-638.
-
(1980)
Cell
, vol.21
, pp. 627-638
-
-
Slightom, J.L.1
Blechl, A.E.2
Smithies, O.3
-
5
-
-
0019790943
-
A history of the human fetal globin gene duplication
-
Shen, S. S., Slightom, J. R., and 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.S.1
Slightom, J.R.2
Smithies, O.3
-
6
-
-
0022596851
-
Short gene conversions in the human fetal globin gene region: A by-product of chromosome pairing during meiosis?
-
Powers, P. A. and Smithies, O. (1986) Short gene conversions in the human fetal globin gene region: a by-product of chromosome pairing during meiosis? Genetics 112, 343-358.
-
(1986)
Genetics
, vol.112
, pp. 343-358
-
-
Powers, P.A.1
Smithies, O.2
-
8
-
-
0000053102
-
Hereditary persistence and fetal hemoglobin and δβ thalassemia
-
(Steinberg, M. H., Forget, B. G., Higgs, D. R., and Nagel, R. L., eds.). Cambridge University Press, Cambridge
-
Wood, W. G. (2001) Hereditary persistence and fetal hemoglobin and δβ thalassemia. In Disorders of Hemoglobin (Steinberg, M. H., Forget, B. G., Higgs, D. R., and Nagel, R. L., eds.). pp. 356-388, Cambridge University Press, Cambridge.
-
(2001)
Disorders of Hemoglobin
, pp. 356-388
-
-
Wood, W.G.1
-
9
-
-
0016166180
-
Mechanism of denaturation of haemoglobin by alkali
-
Perutz, M. F. (1974) Mechanism of denaturation of haemoglobin by alkali. Nature 247, 341-344.
-
(1974)
Nature
, vol.247
, pp. 341-344
-
-
Perutz, M.F.1
-
10
-
-
0017379826
-
Structure of human foetal deoxyhaemoglobin
-
Frier, J. A. and Perutz, M. F. (1977) Structure of human foetal deoxyhaemoglobin. J. Mol. Biol. 112, 97-112.
-
(1977)
J. Mol. Biol.
, vol.112
, pp. 97-112
-
-
Frier, J.A.1
Perutz, M.F.2
-
11
-
-
0038678998
-
Molecular anatomy and physiology of hemoglobin
-
(Steinberg, M. H., Forget, B. G., Higgs, D. R., and Nagel, R. L., eds.). Cambridge University Press, Cambridge
-
Perutz, M. F. (2001) Molecular anatomy and physiology of hemoglobin. In Disorders of Haemoglobin (Steinberg, M. H., Forget, B. G., Higgs, D. R., and Nagel, R. L., eds.). pp. 174-196, Cambridge University Press, Cambridge.
-
(2001)
Disorders of Haemoglobin
, pp. 174-196
-
-
Perutz, M.F.1
-
12
-
-
0025126281
-
Flight and heat dissipation in birds. A possible molecular mechanism
-
Giardina, B., Corda, M., Pellegrini, M. G., Sanna, M. T., Brix, O., Clementi, M. E., and Condò, S. G. (1990) Flight and heat dissipation in birds. A possible molecular mechanism. FEBS Lett. 270, 173-176.
-
(1990)
FEBS Lett.
, vol.270
, pp. 173-176
-
-
Giardina, B.1
Corda, M.2
Pellegrini, M.G.3
Sanna, M.T.4
Brix, O.5
Clementi, M.E.6
Condò, S.G.7
-
13
-
-
0027412162
-
Physiological relevance of the overall delta H of oxygen binding to fetal human hemoglobin
-
Giardina, B., Scatena, R., Clementi, M. E., Cerroni, L., Nuutinen, M., Brix, O., Sletten, S. N., Castagnola, M., and Condò, S. G. (1993) Physiological relevance of the overall delta H of oxygen binding to fetal human hemoglobin. J. Mol. Biol. 229, 512-516.
-
(1993)
J. Mol. Biol.
, vol.229
, pp. 512-516
-
-
Giardina, B.1
Scatena, R.2
Clementi, M.E.3
Cerroni, L.4
Nuutinen, M.5
Brix, O.6
Sletten, S.N.7
Castagnola, M.8
Condò, S.G.9
-
14
-
-
0028122528
-
Hemoglobin function under extreme life conditions
-
Clementi, M. E., Condò, S. G., Castagnola, M., and Giardina, B. (1994) Hemoglobin function under extreme life conditions. Eur. J. Biochem. 223, 309-317.
-
(1994)
Eur. J. Biochem.
, vol.223
, pp. 309-317
-
-
Clementi, M.E.1
Condò, S.G.2
Castagnola, M.3
Giardina, B.4
-
15
-
-
0029019366
-
The multiple functions of hemoglobin, Crit
-
Giardina, B., Messana, I., Scatena, R., and Castagnola, M. (1995) The multiple functions of hemoglobin, Crit. Rev. Biochem. Mol. Biol. 30, 165-196.
-
(1995)
Rev. Biochem. Mol. Biol.
, vol.30
, pp. 165-196
-
-
Giardina, B.1
Messana, I.2
Scatena, R.3
Castagnola, M.4
-
16
-
-
0035136904
-
Placental nitric oxide synthase (NOS) activity and nitric oxide (NO) production in normal pregnancy, pre-eclampsia and eclampsia
-
Shaamash, A. H., Elsonosy, E. D., Zakhari, M. M., Radwan, S. H., and El-Dien, H. M. (2001) Placental nitric oxide synthase (NOS) activity and nitric oxide (NO) production in normal pregnancy, pre-eclampsia and eclampsia. Int. J. Gynaecol. Obstet. 72, 127-133.
-
(2001)
Int. J. Gynaecol. Obstet.
, vol.72
, pp. 127-133
-
-
Shaamash, A.H.1
Elsonosy, E.D.2
Zakhari, M.M.3
Radwan, S.H.4
El-Dien, H.M.5
-
17
-
-
0034730133
-
Relative role of heme nitrosylation and β-cysteine 93 nitrosation in the transport and metabolism of nitric oxide by hemoglobin in the human circulation
-
Gladwin, M. T., Ognibene, F. P., Pannell, L. K., Nichols, J. S., Pease-Fye, M. E., Shelhamer, J. H., and Schechter, A. N. (2000) Relative role of heme nitrosylation and β-cysteine 93 nitrosation in the transport and metabolism of nitric oxide by hemoglobin in the human circulation. Proc. Natl. Acad. Sci. USA 97, 9943-9948.
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 9943-9948
-
-
Gladwin, M.T.1
Ognibene, F.P.2
Pannell, L.K.3
Nichols, J.S.4
Pease-Fye, M.E.5
Shelhamer, J.H.6
Schechter, A.N.7
-
18
-
-
11244316895
-
Chemical physiology of blood flow regulation by red blood cells: The role of nitric oxide and S-nitrosohemoglobin
-
Singel, D. J. and Stamler, J. S. (2005) Chemical physiology of blood flow regulation by red blood cells: the role of nitric oxide and S-nitrosohemoglobin. Annu. Rev. Physiol. 67, 99-145.
-
(2005)
Annu. Rev. Physiol.
, vol.67
, pp. 99-145
-
-
Singel, D.J.1
Stamler, J.S.2
-
19
-
-
0031590450
-
S-nitrosohemoglobin in the fetal circulation may represent a cycle for blood pressure regulation
-
Funai, E. F., Davidson, A., Seligman, S. P., and Finlay, T. H. (1997) S-nitrosohemoglobin in the fetal circulation may represent a cycle for blood pressure regulation. Biochem. Biophys. Res. Commun. 239, 875-877.
-
(1997)
Biochem. Biophys. Res. Commun.
, vol.239
, pp. 875-877
-
-
Funai, E.F.1
Davidson, A.2
Seligman, S.P.3
Finlay, T.H.4
-
20
-
-
0037436822
-
Effect of nitric oxide on the transport and release of oxygen in fetal blood
-
Clementi, M. E., Orsini, F., Schinina, M. E., Noia, G., and Giardina, B. (2003) Effect of nitric oxide on the transport and release of oxygen in fetal blood. Biochem. Biophys. Res. Commun. 302, 515-519.
-
(2003)
Biochem. Biophys. Res. Commun.
, vol.302
, pp. 515-519
-
-
Clementi, M.E.1
Orsini, F.2
Schinina, M.E.3
Noia, G.4
Giardina, B.5
-
21
-
-
0021998319
-
Pregnancy in carriers of high-affinity hemoglobins
-
Charache, S., Catalano, P., Burns, S., Jones, R. T., Koler, R. D., Rutstein, R., and Williams, R. R. (1985) Pregnancy in carriers of high-affinity hemoglobins. Blood 65, 713-718.
-
(1985)
Blood
, vol.65
, pp. 713-718
-
-
Charache, S.1
Catalano, P.2
Burns, S.3
Jones, R.T.4
Koler, R.D.5
Rutstein, R.6
Williams, R.R.7
-
22
-
-
0017132584
-
Specific radioimmunochemical identification and quantitation of hemoglobins A2 and F
-
Garver, F. A., Jones, C. S., Baker, M. M., Altay, G., Barton, B. P., Gravely, M., and Huisman, T. H. J. (1976) Specific radioimmunochemical identification and quantitation of hemoglobins A2 and F. Am. J. Hematol. 1, 459-469.
-
(1976)
Am. J. Hematol.
, vol.1
, pp. 459-469
-
-
Garver, F.A.1
Jones, C.S.2
Baker, M.M.3
Altay, G.4
Barton, B.P.5
Gravely, M.6
Huisman, T.H.J.7
-
23
-
-
0019170645
-
ELISA assay for measurement of human hemoglobin a and hemoglobin F
-
Makler, M. T. and Pesce, A. J. (1980) ELISA assay for measurement of human hemoglobin A and hemoglobin F. Am. J. Clin. Pathol. 74, 673-676.
-
(1980)
Am. J. Clin. Pathol.
, vol.74
, pp. 673-676
-
-
Makler, M.T.1
Pesce, A.J.2
-
24
-
-
0016713936
-
F-cells in the adult: Normal values and levels in individuals with hereditary and acquired elevations of Hb F
-
Wood, W. G., Stamatoyannopoulos, G., Lim, G., and Nute, P. E. (1975) F-cells in the adult: normal values and levels in individuals with hereditary and acquired elevations of Hb F. Blood 46, 671-682.
-
(1975)
Blood
, vol.46
, pp. 671-682
-
-
Wood, W.G.1
Stamatoyannopoulos, G.2
Lim, G.3
Nute, P.E.4
-
25
-
-
0028305957
-
Immunochemical estimation of haemoglobin types in red blood cells by FACS analysis
-
Thorpe, S. J., Thein, S. L., Sampietro, M., Craig, J. E., Mahon, B., and Huehns, E. R. (1994) Immunochemical estimation of haemoglobin types in red blood cells by FACS analysis. Br. J. Haematol. 87, 125-132.
-
(1994)
Br. J. Haematol.
, vol.87
, pp. 125-132
-
-
Thorpe, S.J.1
Thein, S.L.2
Sampietro, M.3
Craig, J.E.4
Mahon, B.5
Huehns, E.R.6
-
26
-
-
0023635390
-
A short review of human γ-globin gene anomalies
-
Huisman, T. H. J. (1987) A short review of human γ-globin gene anomalies. Acta Haematol. 78, 80-84.
-
(1987)
Acta Haematol
, vol.78
, pp. 80-84
-
-
Huisman, T.H.J.1
-
27
-
-
0024211736
-
High-performance liquid chromatographic separation of human haemoglobins. Simultaneous quantitation of foetal and glycated haemoglobins
-
Bissé E. and Wieland, H. (1988) High-performance liquid chromatographic separation of human haemoglobins. Simultaneous quantitation of foetal and glycated haemoglobins. J. Chromatogr. 434, 95-110.
-
(1988)
J. Chromatogr.
, vol.434
, pp. 95-110
-
-
Bissé, E.1
Wieland, H.2
-
29
-
-
0028286559
-
Detection of globin chains by reversed-phase high-performance liquid chromatography
-
Masala, B. and Manca, L. (1994) Detection of globin chains by reversed-phase high-performance liquid chromatography. Methods Enzymol. 231, 21-44.
-
(1994)
Methods Enzymol
, vol.231
, pp. 21-44
-
-
Masala, B.1
Manca, L.2
-
30
-
-
0036399359
-
Globin chain analysis by reversed phase high performance liquid chromatography: Recent developments
-
Wajcman, H., Riou, J., and Yapo, A. P. (2002) Globin chain analysis by reversed phase high performance liquid chromatography: recent developments. Hemoglobin 26, 271-284.
-
(2002)
Hemoglobin
, vol.26
, pp. 271-284
-
-
Wajcman, H.1
Riou, J.2
Yapo, A.P.3
-
31
-
-
0029931313
-
Perfusion chromatography on reversed-phase column allows fast analysis of human globin chains
-
Wajcman, H., Ducrocq, R., Riou, J., Mathis, M., Godart, C., Prehu, C., and Galacteros, F. (1996) Perfusion chromatography on reversed-phase column allows fast analysis of human globin chains. Anal. Biochem. 237, 80-87.
-
(1996)
Anal. Biochem.
, vol.237
, pp. 80-87
-
-
Wajcman, H.1
Ducrocq, R.2
Riou, J.3
Mathis, M.4
Godart, C.5
Prehu, C.6
Galacteros, F.7
-
32
-
-
0027486127
-
New ultra-micro high-performance liquid chromatographic method for determining the γ chain composition of hemoglobin F in normal adults
-
Kutlar, F. and Huisman, T. H. J. (1993) New ultra-micro high-performance liquid chromatographic method for determining the γ chain composition of hemoglobin F in normal adults. J. Chromatogr. 29, 620, 183-189.
-
(1993)
J. Chromatogr.
, vol.29
, Issue.620
, pp. 183-189
-
-
Kutlar, F.1
Huisman, T.H.J.2
-
33
-
-
0025612354
-
A simple approach to the determination of the γ chain composition of HB F in adult human blood samples
-
Manca, L. and Masala, B. (1990) A simple approach to the determination of the γ chain composition of HB F in adult human blood samples. Hemoglobin 14, 517-527.
-
(1990)
Hemoglobin
, vol.14
, pp. 517-527
-
-
Manca, L.1
Masala, B.2
-
34
-
-
0024457871
-
Electrophoretically silent hemoglobin mutants as revealed by isoelectric focusing in immobilized pH gradients
-
Righetti, P. G., Gianazza, E., Bianchi-Bosisio, A., Wajcman, H., and Cossu, G. (1989) Electrophoretically silent hemoglobin mutants as revealed by isoelectric focusing in immobilized pH gradients. Electrophoresis 10, 595-599. (Pubitemid 19219293)
-
(1989)
Electrophoresis
, vol.10
, Issue.8-9
, pp. 595-599
-
-
Righetti, P.G.1
Gianazza, E.2
Bianchi-Bosisio, A.3
Wajcman, H.4
Cossu, G.5
-
35
-
-
0019135955
-
Cord blood screening for hemoglobin abnormalities by thin layer isoelectric focusing
-
Galacteros, F., Kleman, K., Caburi-Martin, J., Beuzard, Y., Rosa, J., and Lubin, B. (1980) Cord blood screening for hemoglobin abnormalities by thin layer isoelectric focusing. Blood 56, 1068-1071.
-
(1980)
Blood
, vol.56
, pp. 1068-1071
-
-
Galacteros, F.1
Kleman, K.2
Caburi-Martin, J.3
Beuzard, Y.4
Rosa, J.5
Lubin, B.6
-
36
-
-
0019936439
-
Neonatal screening of β-thalassemias by thin layer isoelectric focusing
-
Cossu, G., Manca, M., Pirastru, M. G., Bullitta, R., Bosisio, A. B., Gianazza, E., and Righetti, P. G. (1982) Neonatal screening of β-thalassemias by thin layer isoelectric focusing. Am. J. Hematol. 13, 149-157.
-
(1982)
Am. J. Hematol.
, vol.13
, pp. 149-157
-
-
Cossu, G.1
Manca, M.2
Pirastru, M.G.3
Bullitta, R.4
Bosisio, A.B.5
Gianazza, E.6
Righetti, P.G.7
-
37
-
-
0025760401
-
aγ (E19)Ile→Thr] variant by isoelectric focusing in normal newborns and in adults affected by elevated fetal hemoglobin syndromes
-
Aγ (E19)Ile→Thr] variant by isoelectric focusing in normal newborns and in adults affected by elevated fetal hemoglobin syndromes. Clin. Chim. Acta. 198, 195-202.
-
(1991)
Clin. Chim. Acta.
, vol.198
, pp. 195-202
-
-
Masala, B.1
Manca, L.2
-
38
-
-
0018842472
-
Globin chain electrophoresis: A new approach to the determination of the Gγ/Aγ ratio in fetal haemoglobin and to studies of globin synthesis
-
Alter, B. P., Goff, S. C., Efremov, G. D., Gravely, M. E., and Huisman, T. H. J. (1980) Globin chain electrophoresis: a new approach to the determination of the Gγ/Aγ 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.J.5
-
39
-
-
0022514967
-
The gamma globin chain heterogeneity of the Sardinian newborn baby
-
Manca, L., Formato, M., Demuro, P., Pilo, G., Gallisai, D., Orzalesi, M., and Masala, B. (1986) The gamma globin chain heterogeneity of the Sardinian newborn baby. Hemoglobin 10, 519-528.
-
(1986)
Hemoglobin
, vol.10
, pp. 519-528
-
-
Manca, L.1
Formato, M.2
Demuro, P.3
Pilo, G.4
Gallisai, D.5
Orzalesi, M.6
Masala, B.7
-
40
-
-
0034941754
-
Abnormal hemoglobins: Laboratory methods
-
Wajcman, H., Prehu, C., Bardakdjian-Michau, J., Prome, D., Riou, J., Godart, C., Mathis, M., Hurtrel, D., and Galacteros, F. (2001) Abnormal hemoglobins: laboratory methods. Hemoglobin 25, 169-181.
-
(2001)
Hemoglobin
, vol.25
, pp. 169-181
-
-
Wajcman, H.1
Prehu, C.2
Bardakdjian-Michau, J.3
Prome, D.4
Riou, J.5
Godart, C.6
Mathis, M.7
Hurtrel, D.8
Galacteros, F.9
-
41
-
-
0028990483
-
The use of capillary electrophoresis for the determination of hemoglobin variants
-
Castagnola, M., Messana, I., Cassiano, L., Rabino, R., Rossetti, D. V., and Giardina, B. (1995) The use of capillary electrophoresis for the determination of hemoglobin variants. Electrophoresis 16, 1492-1498.
-
(1995)
Electrophoresis
, vol.16
, pp. 1492-1498
-
-
Castagnola, M.1
Messana, I.2
Cassiano, L.3
Rabino, R.4
Rossetti, D.V.5
Giardina, B.6
-
42
-
-
0027989558
-
Gγ variant with a threonine residue at position γ75, characterized by mass spectrometric techniques
-
Gγ variant with a threonine residue at position γ75, characterized by mass spectrometric techniques. Hemoglobin 18, 307-315.
-
(1994)
Hemoglobin
, vol.18
, pp. 307-315
-
-
Ferranti, P.1
Barone, F.2
Pucci, P.3
Malorni, A.4
Marino, G.5
Pilo, G.6
Manca, L.7
Masala, B.8
-
43
-
-
9644304496
-
aγ chain having two substitutions, one being that of Hb F-Sardinia
-
Aγ chain having two substitutions, one being that of Hb F-Sardinia. Hemoglobin 28, 297-303.
-
(2004)
Hemoglobin
, vol.28
, pp. 297-303
-
-
Pirastru, M.1
Manca, L.2
Di Suni, M.P.3
Speziga, S.M.4
Masala, B.5
-
44
-
-
33645082655
-
Gγ59(E3)Lys→ Glu] observed in a family of Sardinian ancestry and characterized by DNA sequencing
-
Gγ59(E3)Lys→ Glu] observed in a family of Sardinian ancestry and characterized by DNA sequencing. Hemoglobin 30, 29-34.
-
(2006)
Hemoglobin
, vol.30
, pp. 29-34
-
-
Manca, L.1
Pirastru, M.2
Speziga, S.M.3
Masala, B.4
-
45
-
-
0022496392
-
DNA polymorphisms in North Sardinian newborns and their linkage with abnormal γ globin gene arrangements and with β°-thalassemia
-
Hattori, Y., Kutlar, F., Chen, S. S., Huisman, T. H. J., Demuro, P., Formato, M., Manca, L., and Masala, B. (1986) DNA polymorphisms in North Sardinian newborns and their linkage with abnormal γ globin gene arrangements and with β°-thalassemia. Biochem. Genet. 24, 669-681.
-
(1986)
Biochem. Genet.
, vol.24
, pp. 669-681
-
-
Hattori, Y.1
Kutlar, F.2
Chen, S.S.3
Huisman, T.H.J.4
Demuro, P.5
Formato, M.6
Manca, L.7
Masala, B.8
-
46
-
-
0024500256
-
A search for anomalies in the ζ, α, β, and γ globin gene arrangements in normal black, Italian, Turkish, and Spanish newborns
-
Fei, Y. J., Kutlar, F., Harris, H. F. II, Wilson, M. M., Milana, A., Sciacca, P., Schilirò, G., Masala, B., Manca, L., Altay, C., Gurgey, A., de Pablos, J. M., Villegas, A., and Huisman, T. H. J. (1989) A search for anomalies in the ζ, α, β, and γ globin gene arrangements in normal black, Italian, Turkish, and Spanish newborns. Hemoglobin 13, 45-65.
-
(1989)
Hemoglobin
, vol.13
, pp. 45-65
-
-
Fei, Y.J.1
Kutlar, F.2
Harris II, H.F.3
Wilson, M.M.4
Milana, A.5
Sciacca, P.6
Schilirò, G.7
Masala, B.8
Manca, L.9
Altay, C.10
Gurgey, A.11
De Pablos, J.M.12
Villegas, A.13
Huisman, T.H.J.14
-
47
-
-
0023733491
-
Abnormal γ-globin gene arrangements in Sardinians
-
Manca, L., Masala, B., Orzalesi, M., Huang, H. J., and Huisman, T. H. J. (1988) Abnormal γ-globin gene arrangements in Sardinians. Hemoglobin 12, 741-753.
-
(1988)
Hemoglobin
, vol.12
, pp. 741-753
-
-
Manca, L.1
Masala, B.2
Orzalesi, M.3
Huang, H.J.4
Huisman, T.H.J.5
-
49
-
-
0030610734
-
Gamma chain abnormal human fetal hemoglobin variants
-
Huisman, T. H. J. (1997) Gamma chain abnormal human fetal hemoglobin variants. Am. J. Hematol. 55, 159-163.
-
(1997)
Am. J. Hematol.
, vol.55
, pp. 159-163
-
-
Huisman, T.H.J.1
-
50
-
-
0019949838
-
Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster
-
Orkin, S. H., Kazazian, H. H. Jr., Antonarakis, S. E., Goff, S. C., Boehm, C. D., Sexton, J. P., Waber, P. G., and Giardina, P. J. (1982) Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 296, 627-631.
-
(1982)
Nature
, vol.296
, pp. 627-631
-
-
Orkin, S.H.1
Kazazian Jr., H.H.2
Antonarakis, S.E.3
Goff, S.C.4
Boehm, C.D.5
Sexton, J.P.6
Waber, P.G.7
Giardina, P.J.8
-
52
-
-
0021101062
-
β-Thalassemia resulting from the deletion of a c-globin gene
-
Sukumaran, P. K., Nakatsuji, T., Gardiner, M. B., Reese, A. L., Gilman, J. G., and Huisman, T. H. J. (1983) β-Thalassemia resulting from the deletion of a c-globin gene. Nucleic Acids Res. 11, 4635-4643.
-
(1983)
Nucleic Acids Res.
, vol.11
, pp. 4635-4643
-
-
Sukumaran, P.K.1
Nakatsuji, T.2
Gardiner, M.B.3
Reese, A.L.4
Gilman, J.G.5
Huisman, T.H.J.6
-
53
-
-
0020611705
-
T variant of fetal hemoglobin in newborn babies from several countries
-
T variant of fetal hemoglobin in newborn babies from several countries. Am. J. Hematol. 14, 133-148.
-
(1983)
Am. J. Hematol.
, vol.14
, pp. 133-148
-
-
Huisman, T.H.J.1
Reese, A.L.2
Gardiner, M.B.3
Wilson, J.B.4
Lam, H.5
Reynolds, A.6
Nagle, S.7
Trowell, P.8
Zeng, Y.T.9
Huang, S.Z.10
Sukumaran, P.K.11
Miwa, S.12
Efremov, G.D.13
Petkov, G.14
Sciarratta, G.V.15
Sansone, G.16
-
54
-
-
0022587268
-
Abnormal arrangements in the α- And γ-globin gene clusters in a relatively large group of Japanese newborns
-
Shimizu, K., Harano, T., Harano, K., Miwa, S., Amenomori, Y., Ohba, Y., Kutlar, F., and Huisman, T. H. J. (1986) Abnormal arrangements in the α- and γ-globin gene clusters in a relatively large group of Japanese newborns. Am. J. Hum. Genet. 38, 45-58.
-
(1986)
Am. J. Hum. Genet.
, vol.38
, pp. 45-58
-
-
Shimizu, K.1
Harano, T.2
Harano, K.3
Miwa, S.4
Amenomori, Y.5
Ohba, Y.6
Kutlar, F.7
Huisman, T.H.J.8
-
55
-
-
0022273676
-
γ-globin gene triplication and quadruplication in Japanese newborns. Evidence for a decreased in vivo expression of the 3′-Aγ-globin gene
-
Harano, K., Harano, T., Kutlar, F., and Huisman, T. H. J. (1985) γ-globin gene triplication and quadruplication in Japanese newborns. Evidence for a decreased in vivo expression of the 3′-Aγ-globin gene. FEBS Lett. 190, 45-49.
-
(1985)
FEBS Lett.
, vol.190
, pp. 45-49
-
-
Harano, K.1
Harano, T.2
Kutlar, F.3
Huisman, T.H.J.4
-
56
-
-
0022634643
-
aγ (δβ)°-thalassaemia and a new form of γ-globin gene triplication identified in the Yugoslavian population
-
Aγ (δβ)°-thalassaemia and a new form of γ-globin gene triplication identified in the Yugoslavian population. Br. J. Haematol. 63, 17-28.
-
(1986)
Br. J. Haematol.
, vol.63
, pp. 17-28
-
-
Efremov, G.D.1
Filipce, V.2
Gjorgovski, I.3
Juricic, D.4
Stojanovski, N.5
Harano, T.6
Nakatsuji, T.7
Kutlar, A.8
Kutlar, F.9
Bakioglu, I.10
Huisman, T.H.J.11
-
57
-
-
0023745230
-
Characterization of abnormalities in the γ-globin gene arrangements of Japanese newborns
-
Harano, T., Harano, K., Ukita, M., Wada, Y., Hayashi, A., Ohba, Y., Miyaji, T., Kutlar, F., and Huisman, T. H. J. (1988) Characterization of abnormalities in the γ-globin gene arrangements of Japanese newborns. Hemoglobin 12, 723-739.
-
(1988)
Hemoglobin
, vol.12
, pp. 723-739
-
-
Harano, T.1
Harano, K.2
Ukita, M.3
Wada, Y.4
Hayashi, A.5
Ohba, Y.6
Miyaji, T.7
Kutlar, F.8
Huisman, T.H.J.9
-
58
-
-
0022978460
-
Human α-globin gene expression. The dominant role of the α2-locus in mRNA and protein synthesis
-
Liebhaber, S. A., Cash, F. E., and Ballas, S. K. (1986) Human α-globin gene expression. The dominant role of the α2-locus in mRNA and protein synthesis. J. Biol. Chem. 261, 15327-15333.
-
(1986)
J. Biol. Chem.
, vol.261
, pp. 15327-15333
-
-
Liebhaber, S.A.1
Cash, F.E.2
Ballas, S.K.3
-
59
-
-
0028986340
-
Sheep α-globin gene sequences: Implications for their concerted evolution and for the down-regulation of the 3′ genes
-
Ristaldi, M. S., Casula, S., Rando, A., and Vestri, R. (1995) Sheep α-globin gene sequences: implications for their concerted evolution and for the down-regulation of the 3′ genes. J. Mol. Evol. 40, 349-353.
-
(1995)
J. Mol. Evol.
, vol.40
, pp. 349-353
-
-
Ristaldi, M.S.1
Casula, S.2
Rando, A.3
Vestri, R.4
-
60
-
-
0022929635
-
β°-thalassemia in association with a γ-globin gene quadruplication
-
Yang, K. G., Liu, J. Z., Kutlar, F., Kutlar, A., Altay, C., Gurgey, A., and Huisman, T. H. J. (1986) β°-thalassemia in association with a γ-globin gene quadruplication, Blood 68, 1394-1937.
-
(1986)
Blood
, vol.68
, pp. 1394-1937
-
-
Yang, K.G.1
Liu, J.Z.2
Kutlar, F.3
Kutlar, A.4
Altay, C.5
Gurgey, A.6
Huisman, T.H.J.7
-
61
-
-
0023783970
-
A chromosome with five γ-globin genes
-
Fei, Y. J., Lanclos, K. D., Kutlar, F., Walker, E. L. III, and Huisman, T. H. J. (1988) A chromosome with five γ-globin genes. Blood 72, 827-829.
-
(1988)
Blood
, vol.72
, pp. 827-829
-
-
Fei, Y.J.1
Lanclos, K.D.2
Kutlar, F.3
Walker III, E.L.4
Huisman, T.H.J.5
-
62
-
-
0036182152
-
A novel rearrangement of the human fetal globin genes leading to a six γ-globin gene haplotype
-
Gonçalves, I., Lavinha, J., Ducrocq, R., and Osorio-Almeida, L. (2002) A novel rearrangement of the human fetal globin genes leading to a six γ-globin gene haplotype, Br. J. Haematol. 116, 454-457.
-
(2002)
Br. J. Haematol.
, vol.116
, pp. 454-457
-
-
Gonçalves, I.1
Lavinha, J.2
Ducrocq, R.3
Osorio-Almeida, L.4
-
63
-
-
0037286961
-
Gγ63(E7)His→Tyr] in a newborn from southwest France
-
Gγ63(E7)His→Tyr] in a newborn from southwest France. Hemoglobin 27, 27-30.
-
(2003)
Hemoglobin
, vol.27
, pp. 27-30
-
-
Prehu, C.1
Rhabbour, M.2
Netter, J.C.3
Denier, M.4
Riou, J.5
Galacteros, F.6
Wajcman, H.7
-
64
-
-
0026731533
-
292 (F8)His→Tyr
-
292 (F8)His→Tyr. Hemoglobin 16, 389-398.
-
(1992)
Hemoglobin
, vol.16
, pp. 389-398
-
-
Molchanova, T.P.1
Wilson, J.B.2
Gu, L.H.3
Hain, R.D.4
Chang, L.S.5
Poon, A.O.6
Huisman, T.H.J.7
-
71
-
-
0029020591
-
Gγ59(E3)Lys→Gln]
-
Gγ59(E3)Lys→Gln]. Hemoglobin 19, 173-182.
-
(1995)
Hemoglobin
, vol.19
, pp. 173-182
-
-
Abbes, S.1
Fitzgerald, P.A.2
Varady, E.3
Girot, R.4
Pic, P.5
Blouquit, Y.6
Ducrocq, R.7
Drupt, F.8
Wajcman, H.9
-
73
-
-
0016740591
-
A new Hb variant: Hb F Sardinia γ75(E19) isoleucine leads to threonine found in a family with Hb G Philadelphia, β-chain deficiency and a Lepore-like haemoglobin indistinguishable from Hb A2
-
Grifoni, V., Kamuzora, H., Lehmann, H., and Charlesworth, D. (1975) A new Hb variant: Hb F Sardinia γ75(E19) isoleucine leads to threonine found in a family with Hb G Philadelphia, β-chain deficiency and a Lepore-like haemoglobin indistinguishable from Hb A2. Acta Haematol. 53, 347-355.
-
(1975)
Acta Haematol
, vol.53
, pp. 347-355
-
-
Grifoni, V.1
Kamuzora, H.2
Lehmann, H.3
Charlesworth, D.4
-
74
-
-
0017185323
-
Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine replaced by threonine at position 75 (E19) of the gamma chain
-
Ricco, G., Mazza, U., Turi, R. M., Pich, P. G., Camaschella, C., Saglio, G., and Bernini, L. F. (1976) Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine replaced by threonine at position 75 (E19) of the gamma chain. Hum. Genet. 32, 305-313.
-
(1976)
Hum. Genet.
, vol.32
, pp. 305-313
-
-
Ricco, G.1
Mazza, U.2
Turi, R.M.3
Pich, P.G.4
Camaschella, C.5
Saglio, G.6
Bernini, L.F.7
-
75
-
-
0017672736
-
The T gamma chain of human fetal hemoglobin at birth and in several abnormal hematologic conditions
-
Huisman, T. H. J., Schroeder, W. A., Reese, A., Wilson, J. B., Lam, H., Shelton, R., Shelton, J. B., and Baker, S. (1977) The T gamma chain of human fetal hemoglobin at birth and in several abnormal hematologic conditions. Pediatr. Res. 11, 1102-1105.
-
(1977)
Pediatr. Res.
, vol.11
, pp. 1102-1105
-
-
Huisman, T.H.J.1
Schroeder, W.A.2
Reese, A.3
Wilson, J.B.4
Lam, H.5
Shelton, R.6
Shelton, J.B.7
Baker, S.8
-
76
-
-
0022338890
-
T in different populations, and its use in evaluating γ gene expression in association with thalassemia
-
T in different populations, and its use in evaluating γ gene expression in association with thalassemia. Hum. Genet. 71, 127-133.
-
(1985)
Hum. Genet.
, vol.71
, pp. 127-133
-
-
Huisman, T.H.J.1
Kutlar, F.2
Nakatsuji, T.3
Bruce-Tagoe, A.4
Kilinc, Y.5
Cauchi, M.N.6
Romero Garcia, C.7
-
77
-
-
0023812120
-
Biochemical and molecular aspects of β-thalassemia types in northern Sardinia
-
Masala, B., Manca, L., Gallisai, D., Stangoni, A., Lanclos, K. D., Kutlar, F., Yang, K. G., and Huisman, T. H. J. (1988) Biochemical and molecular aspects of β-thalassemia types in northern Sardinia. Hemoglobin 12, 661-671.
-
(1988)
Hemoglobin
, vol.12
, pp. 661-671
-
-
Masala, B.1
Manca, L.2
Gallisai, D.3
Stangoni, A.4
Lanclos, K.D.5
Kutlar, F.6
Yang, K.G.7
Huisman, T.H.J.8
-
84
-
-
0033981943
-
aγ expression in adult
-
Aγ expression in adult. Am. J. Hematol. 63, 16-19.
-
(2000)
Am. J. Hematol.
, vol.63
, pp. 16-19
-
-
Huang, X.D.1
Yang, X.O.2
Huang, R.B.3
Zhang, H.Y.4
Zhao, H.L.5
Zhao, Y.J.6
Huang, C.L.7
Hou, C.J.8
Zhang, J.W.9
-
85
-
-
0024848166
-
Increased Sp1 binding mediates erythroid-specific overexpression of a mutated (HPFH) γ-globulin promoter
-
Ronchi, A., Nicholis, S., Santoro, C., and Ottolenghi, S. (1989) Increased Sp1 binding mediates erythroid-specific overexpression of a mutated (HPFH) γ-globulin promoter. Nucleic Acids Res. 17, 10231-10241.
-
(1989)
Nucleic Acids Res.
, vol.17
, pp. 10231-10241
-
-
Ronchi, A.1
Nicholis, S.2
Santoro, C.3
Ottolenghi, S.4
-
86
-
-
0026758357
-
A tissue-specific MAR/SAR DNA-binding protein with unusual binding site recognition
-
Dickinson, L. A., Joh, T., Kohwi, Y., and Kohwi-Shigematsu, T. (1992) A tissue-specific MAR/SAR DNA-binding protein with unusual binding site recognition. Cell 70, 631-645.
-
(1992)
Cell
, vol.70
, pp. 631-645
-
-
Dickinson, L.A.1
Joh, T.2
Kohwi, Y.3
Kohwi-Shigematsu, T.4
-
88
-
-
0023607258
-
T25(B7)Gly→Arg: A new slow-moving unstable fetal hemoglobin variant
-
T25(B7)Gly→Arg: a new slow-moving unstable fetal hemoglobin variant. Hemoglobin 11, 465-472.
-
(1987)
Hemoglobin
, vol.11
, pp. 465-472
-
-
Hu, H.1
Ma, M.2
-
89
-
-
0022371132
-
aγ variant with two amino acid substitutions, 75(E19)Ile→Thr and 73(E17)Asp→Asn, which can be identified in adults by gene-mapping analysis
-
Aγ variant with two amino acid substitutions, 75(E19)Ile→Thr and 73(E17)Asp→Asn, which can be identified in adults by gene-mapping analysis. Biochim. Biophys. Acta. 832, 242-247.
-
(1985)
Biochim. Biophys. Acta
, vol.832
, pp. 242-247
-
-
Chen, S.S.1
Webber, B.B.2
Wilson, J.B.3
Huisman, T.H.J.4
-
92
-
-
0020615882
-
2121(GH4) Glu leads to Lys). a new fetal hemoglobin variant
-
2121(GH4) Glu leads to Lys). A new fetal hemoglobin variant. Hemoglobin 7, 79-83.
-
(1983)
Hemoglobin
, vol.7
, pp. 79-83
-
-
Carè, A.1
Marinucci, M.2
Massa, A.3
Massa, D.4
Sposi, N.M.5
Improta, T.6
Tentori, L.7
-
93
-
-
0028868735
-
aγ23 (B5) Ala deleted]: Evidence for an identical hotspot for deletions in the various β-like genes
-
Aγ23 (B5) Ala deleted]: evidence for an identical hotspot for deletions in the various β-like genes. C. R. Acad. Sci. III 318, 1065-1071.
-
(1995)
C. R. Acad. Sci. III
, vol.318
, pp. 1065-1071
-
-
Wajcman, H.1
Ducrocq Prome, D.2
Galacteros, F.3
-
95
-
-
0028301229
-
2 contact
-
2 contact. J. Biol. Chem. 269, 18338-18342.
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 18338-18342
-
-
Sanna, M.T.1
Giardina, B.2
Scatena, R.3
Pellegrini, M.4
Olianas, A.5
Manca, L.6
Masala, B.7
Castagnola, M.8
Corda, M.9
-
96
-
-
0024504618
-
Identification of Hb J-Sardegna [α50(CE8)His→Asp] by HPLC and its incidence in northern Sardinia
-
Manca, L. and Masala, B. (1989) Identification of Hb J-Sardegna [α50(CE8)His→Asp] by HPLC and its incidence in northern Sardinia. Hemoglobin 13, 33-44.
-
(1989)
Hemoglobin
, vol.13
, pp. 33-44
-
-
Manca, L.1
Masala, B.2
-
97
-
-
0034652089
-
Adult and fetal haemoglobin J-Sardegna [α50(CE8)His→Asp]: Functional and molecular modelling studies
-
Corda, M., De Rosa, M. C., Pellegrini, M. G., Sanna, M. T., Olianas, A., Fais, A., Manca, L., Masala, B., Zappacosta, B., Ficarra, S., Castagnola, M., and Giardina, B. (2000) Adult and fetal haemoglobin J-Sardegna [α50(CE8)His→Asp]: functional and molecular modelling studies. Biochem. J. 346, 193-199.
-
(2000)
Biochem. J.
, vol.346
, pp. 193-199
-
-
Corda, M.1
De Rosa, M.C.2
Pellegrini, M.G.3
Sanna, M.T.4
Olianas, A.5
Fais, A.6
Manca, L.7
Masala, B.8
Zappacosta, B.9
Ficarra, S.10
Castagnola, M.11
Giardina, B.12
-
98
-
-
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, B., Bergounioux, J., Gerovassili, A., and Thein, S. L. (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 Genomics 5, 33.
-
(2004)
BMC Genomics
, vol.5
, pp. 33
-
-
Close, J.1
Game, L.2
Clark, B.3
Bergounioux, J.4
Gerovassili, A.5
Thein, S.L.6
-
99
-
-
0033966370
-
Genetic influences on F cells and other hematologic variables: A twin heritability study
-
Garner, C., Tatu, T., Reittie, J. E., Littlewood, T., Darley, J., Cervino, S., Farrall, M., Kelly, P., Spector, T. D., and Thein, S. L. (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
-
100
-
-
0028291289
-
Possible factors influencing the haemoglobin and fetal haemoglobin levels in patients with β-thalassaemia due to a homozygosity for the IVS-I-6 (T→C) mutation
-
Efremov, D. G., Dimovski, A. J., Baysal, E., Ye, Z., Adekile, A. D., Ribeiro, M. L., Schilirò , G., Altay, C., Gurgey, A., Efremov, G. D., and Huisman, T. H. J. (1994) Possible factors influencing the haemoglobin and fetal haemoglobin levels in patients with β-thalassaemia due to a homozygosity for the IVS-I-6 (T→C) mutation. Br. J. Haematol. 86, 824-830.
-
(1994)
Br. J. Haematol.
, vol.86
, pp. 824-830
-
-
Efremov, D.G.1
Dimovski, A.J.2
Baysal, E.3
Ye, Z.4
Adekile, A.D.5
Ribeiro, M.L.6
Schilirò, G.7
Altay, C.8
Gurgey, A.9
Efremov, G.D.10
Huisman, T.H.J.11
-
102
-
-
0028568970
-
Fetal hemoglobin levels in adults
-
Rochette, J., Craig, J. E., and Thein, S. L. (1994) Fetal hemoglobin levels in adults. Blood Rev. 8, 213-224.
-
(1994)
Blood Rev.
, vol.8
, pp. 213-224
-
-
Rochette, J.1
Craig, J.E.2
Thein, S.L.3
-
103
-
-
0031871713
-
Molecular basis of hereditary persistence of fetal hemoglobin
-
Forget, B. G. (1998) Molecular basis of hereditary persistence of fetal hemoglobin. Ann. N. Y. Acad. Sci. 850, 38-44.
-
(1998)
Ann. N. Y. Acad. Sci.
, vol.850
, pp. 38-44
-
-
Forget, B.G.1
-
104
-
-
0000831381
-
Hemoglobin switching
-
(Stamatoyannopoulos, G., Majerus, P. W., Perlmutter, R. M., Varmus, H., eds.) Saunders Company, Philadelphia
-
Stamatoyannopoulos, G. and Grosveld, F. (2001) Hemoglobin switching. In The Molecular Basis of Blood Disease (Stamatoyannopoulos, G., Majerus, P. W., Perlmutter, R. M., Varmus, H., eds.). pp. 135-182, Saunders Company, Philadelphia.
-
(2001)
The Molecular Basis of Blood Disease
, pp. 135-182
-
-
Stamatoyannopoulos, G.1
Grosveld, F.2
-
105
-
-
0024368590
-
DNA sequences regulating human globin gene transcription in nondeletional hereditary persistence of fetal hemoglobin
-
Ottolenghi, S., Mantovani, R., Nicolis, S., Ronchi, A., and Giglioni, B. (1989) DNA sequences regulating human globin gene transcription in nondeletional hereditary persistence of fetal hemoglobin. Hemoglobin 13, 523-541.
-
(1989)
Hemoglobin
, vol.13
, pp. 523-541
-
-
Ottolenghi, S.1
Mantovani, R.2
Nicolis, S.3
Ronchi, A.4
Giglioni, B.5
-
106
-
-
0031870358
-
Understanding fetal globin gene expression: A step towards effective HbF reactivation in haemoglobinopathies
-
Jane, S. M. and Cunningham, J. M. (1998) Understanding fetal globin gene expression: a step towards effective HbF reactivation in haemoglobinopathies. Br. J. Haematol. 102, 415-422.
-
(1998)
Br. J. Haematol.
, vol.102
, pp. 415-422
-
-
Jane, S.M.1
Cunningham, J.M.2
-
107
-
-
0036202845
-
Regulation of the globin genes
-
Cao, A. and Moi, P. (2002) Regulation of the globin genes. Pediatr. Res. 51, 415-421.
-
(2002)
Pediatr. Res.
, vol.51
, pp. 415-421
-
-
Cao, A.1
Moi, P.2
-
108
-
-
2942735215
-
The role of p22 NF-E4 in human globin gene switching
-
Zhou, W., Zhao, Q., Sutton, R., Cumming, H., Wang, X., Cerruti, L., Hall, M., Wu, R., Cunningham, J. M., and Jane, S. M. (2004) The role of p22 NF-E4 in human globin gene switching. J. Biol. Chem. 279, 26227-26232.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 26227-26232
-
-
Zhou, W.1
Zhao, Q.2
Sutton, R.3
Cumming, H.4
Wang, X.5
Cerruti, L.6
Hall, M.7
Wu, R.8
Cunningham, J.M.9
Jane, S.M.10
-
109
-
-
0029117645
-
aγ HPFH and β°39 nonsense thalassemia
-
Aγ HPFH and β°39 nonsense thalassemia. Am. J. Hematol. 49, 267-270.
-
(1995)
Am. J. Hematol.
, vol.49
, pp. 267-270
-
-
Pistidda, P.1
Frogheri, L.2
Oggiano, L.3
Guiso, L.4
Manca, L.5
Dore, F.6
Masala, B.7
Gilman, J.G.8
Longinotti, M.9
-
110
-
-
0023913685
-
Gγ-) β+-HPFH heterozygotes using the DNA-amplification-synthetic oligonucleotide procedure
-
Gγ-) β+-HPFH heterozygotes using the DNA-amplification- synthetic oligonucleotide procedure. Blood 71, 1414-1417.
-
(1988)
Blood
, vol.71
, pp. 1414-1417
-
-
Yang, K.G.1
Stoming, T.A.2
Fei, Y.J.3
Liang, S.4
Wong, S.C.5
Masala, B.6
Huang, R.B.7
Wei, Z.P.8
Huisman, T.H.J.9
-
111
-
-
14944379039
-
The Corfu δβ-thalassemia deletion disrupts γ-globin gene silencing and reveals post-transcriptional regulation of HbF expression
-
Chakalova, L., Osborne, C. S., Dai, Y.-F., Goyenechea, B., Metaxotou-Mavromati, A., Kattamis, A. C., Kattamis, C., and Fraser, P. (2005) The Corfu δβ-thalassemia deletion disrupts γ-globin gene silencing and reveals post-transcriptional regulation of HbF expression. Blood 105, 2154-2160.
-
(2005)
Blood
, vol.105
, pp. 2154-2160
-
-
Chakalova, L.1
Osborne, C.S.2
Dai, Y.-F.3
Goyenechea, B.4
Metaxotou-Mavromati, A.5
Kattamis, A.C.6
Kattamis, C.7
Fraser, P.8
-
112
-
-
0030840816
-
Gγ HPFH and β°39 nonsense thalassemia: A case study
-
Gγ HPFH and β°39 nonsense thalassemia: a case study. Eur. J. Haematol. 58, 320-325.
-
(1997)
Eur. J. Haematol.
, vol.58
, pp. 320-325
-
-
Pistidda, P.1
Frogheri, L.2
Guiso, L.3
Manca, L.4
Dore, F.5
Mura, L.6
Longinotti, M.7
-
113
-
-
0028238339
-
A potential regulatory region for the expression of fetal hemoglobin in sickle cell disease
-
Pissard, S., and 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
-
114
-
-
0036063360
-
Foetal haemoglobin in normal healthy adults: Relationship with polymorphic sequences cis to the β globin gene
-
Zertal-Zidani, S., Ducrocq, R., Sahbatou, M., Satta, D., and Krishnamoorthy, R. (2002) Foetal haemoglobin in normal healthy adults: relationship with polymorphic sequences cis to the β globin gene. Eur. J. Hum. Genet. 10, 320-326.
-
(2002)
Eur. J. Hum. Genet.
, vol.10
, pp. 320-326
-
-
Zertal-Zidani, S.1
Ducrocq, R.2
Sahbatou, M.3
Satta, D.4
Krishnamoorthy, R.5
-
115
-
-
0033009106
-
Genetic variations in human fetal globin gene microsatellites and their functional relevance
-
Lapoumeroulie, C., Castiglia, L., Ruberto, C., Fichera, M., Amata, S. Labie, D., and Ragusa, A. (1999) Genetic variations in human fetal globin gene microsatellites and their functional relevance. Human Genet. 104, 307-314.
-
(1999)
Human Genet.
, vol.104
, pp. 307-314
-
-
Lapoumeroulie, C.1
Castiglia, L.2
Ruberto, C.3
Fichera, M.4
Amata, S.5
Labie, D.6
Ragusa, A.7
-
116
-
-
0031451825
-
Dissection of the association status of two polymorphisms in the β-globin gene cluster with variations in F-cell number in non-anemic individuals
-
Merghoub, T., Péichon, B., Maier-Redelsperger, M., Dibenedetto, S. P., Samperi, P., Ducrocq, R., Feingold, N., Elion, J., Schilirò, G., Labie, D., and Krishnamoorthy, R. (1997) Dissection of the association status of two polymorphisms in the β-globin gene cluster with variations in F-cell number in non-anemic individuals. Am. J. Hematol. 56, 239-243.
-
(1997)
Am. J. Hematol.
, vol.56
, pp. 239-243
-
-
Merghoub, T.1
Péichon, B.2
Maier-Redelsperger, M.3
Dibenedetto, S.P.4
Samperi, P.5
Ducrocq, R.6
Feingold, N.7
Elion, J.8
Schilirò, G.9
Labie, D.10
Krishnamoorthy, R.11
-
117
-
-
0026570768
-
S mutation
-
S mutation. Blood 79, 787-792.
-
(1992)
Blood
, vol.79
, pp. 787-792
-
-
Elion, J.1
Berg, P.2
Lapoumeroulie, C.3
Trabuchet, G.4
Mittelman, M.5
Krishnamoorthy, R.6
Schechter, A.7
Labie, D.8
-
118
-
-
0036100973
-
Functional role of the four different types of (AT)(x)T(y) motifs 5′ to the β-globin gene and their distribution in the Greek population
-
Kalotychou, V., Kollia, P., Voskaridou, E., Patargias, T., Anagnou, N. P., and Loukopoulos D. (2002) Functional role of the four different types of (AT)(x)T(y) motifs 5′ to the β-globin gene and their distribution in the Greek population. Blood Cells Mol. Dis. 28, 39-46.
-
(2002)
Blood Cells Mol. Dis.
, vol.28
, pp. 39-46
-
-
Kalotychou, V.1
Kollia, P.2
Voskaridou, E.3
Patargias, T.4
Anagnou, N.P.5
Loukopoulos, D.6
-
119
-
-
0242362229
-
Asymptomatic and mild β-thalassemia in homozygotes and compound heterozygotes for the IVS211G→A mutation: Role of the β-globin gene haplotype
-
Ragusa, A., Amata, S., Lombardo, T., Castiglia, L., Maier-Redelsperger, M., Labie, D., and Bernini, L. (2003) Asymptomatic and mild β-thalassemia in homozygotes and compound heterozygotes for the IVS211G→A mutation: role of the β-globin gene haplotype. Haematologica 88, 1099-1105.
-
(2003)
Haematologica
, vol.88
, pp. 1099-1105
-
-
Ragusa, A.1
Amata, S.2
Lombardo, T.3
Castiglia, L.4
Maier-Redelsperger, M.5
Labie, D.6
Bernini, L.7
-
120
-
-
4544244018
-
β-Thalassemia -87 C→G: Relationship of the Hb F modulation and polimorphisms in compound heterozygous patients
-
De Angioletti, M., Lacerra, G., Pagano, L., Alessi, M., D'Avino, R., Manca, L., and Carestia, C. (2004) β-Thalassemia -87 C→G: relationship of the Hb F modulation and polimorphisms in compound heterozygous patients. Br. J. Haematol. 126, 743-749.
-
(2004)
Br. J. Haematol.
, vol.126
, pp. 743-749
-
-
De Angioletti, M.1
Lacerra, G.2
Pagano, L.3
Alessi, M.4
D'Avino, R.5
Manca, L.6
Carestia, C.7
-
121
-
-
21044450187
-
Two β-globin cluster-linked polymorphic loci in thalassemia patients of variable levels of fetal hemoglobin
-
Bandyopadhyay, S., Mondal, B. C., Sarkar, P., Chandra, S., Das, M. K., and Dasgupta, U. B. (2005) Two β-globin cluster-linked polymorphic loci in thalassemia patients of variable levels of fetal hemoglobin. Eur. J. Haematol. 75, 47-53.
-
(2005)
Eur. J. Haematol.
, vol.75
, pp. 47-53
-
-
Bandyopadhyay, S.1
Mondal, B.C.2
Sarkar, P.3
Chandra, S.4
Das, M.K.5
Dasgupta, U.B.6
-
122
-
-
33644835380
-
Genotypic heterogeneity and correlation to intergenic haplotype within high HbF β-thalassemia intermedia
-
Papachatzopoulou, A., Kourakli, A., Makropoulou, P., Kakagianne, T., Sgourou, A., Papadakis, M., and Athanassiadou, A. (2006) Genotypic heterogeneity and correlation to intergenic haplotype within high HbF β-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
-
123
-
-
0035320886
-
Phenotype-genotype relationships in monogenic disease: Lessons from the thalassaemias
-
Weatherall, D.J. (2001) Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nature Genet. 2, 245-255.
-
(2001)
Nature Genet.
, vol.2
, pp. 245-255
-
-
Weatherall, D.J.1
-
124
-
-
20444450494
-
Understanding globin regulation in β-thalassemia: It's as simple as α, β, γ, δ
-
Bank, A. (2005) Understanding globin regulation in β-thalassemia: it's as simple as α, β, γ, δ. J. Clin. Invest. 115, 1470-1473.
-
(2005)
J. Clin. Invest.
, vol.115
, pp. 1470-1473
-
-
Bank, A.1
-
125
-
-
30444432407
-
Regulation of human fetal hemoglobin: New players, new complexities
-
Bank, A. (2006) Regulation of human fetal hemoglobin: new players, new complexities. Blood 107, 435-446.
-
(2006)
Blood
, vol.107
, pp. 435-446
-
-
Bank, A.1
-
126
-
-
0037414164
-
Effect of hydroxyurea on mortality and morbidity in adult sickle cell anemia: Risks and benefits up to 9 years of treatment
-
Steinberg, M. H., Barton, F., Castro, O., Pegelow, C. H., Ballas, S. K., Kutlar, A., Orringer, E., Bellevue, R., Olivieri, N., Eckman, J., Varma, M., Ramirez, G., Adler, B., Smith, W., Carlos, T., Ataga, K., DeCastro, L., Bigelow, C., Saunthararajah, Y., Telfer, M., Vichinsky, E., Claster, S., Shurin, S., Bridges, K., Waclawiw, M., Bonds, D., and Terrin, M. (2003) Effect of hydroxyurea on mortality and morbidity in adult sickle cell anemia: risks and benefits up to 9 years of treatment. JAMA 289, 1645-1651.
-
(2003)
JAMA
, vol.289
, pp. 1645-1651
-
-
Steinberg, M.H.1
Barton, F.2
Castro, O.3
Pegelow, C.H.4
Ballas, S.K.5
Kutlar, A.6
Orringer, E.7
Bellevue, R.8
Olivieri, N.9
Eckman, J.10
Varma, M.11
Ramirez, G.12
Adler, B.13
Smith, W.14
Carlos, T.15
Ataga, K.16
Decastro, L.17
Bigelow, C.18
Saunthararajah, Y.19
Telfer, M.20
Vichinsky, E.21
Claster, S.22
Shurin, S.23
Bridges, K.24
Waclawiw, M.25
Bonds, D.26
Terrin, M.27
more..
-
127
-
-
13544258634
-
Butyrate increases the efficiency of translation of γ-globin mRNA
-
Weinberg, R. S., Ji, X., Sutton, M., Perrine, S., Galperin, Y., Li, Q., Liebhaber, S. A., Stamatoyannopoulos, G., and Atweh, G. F. (2005) Butyrate increases the efficiency of translation of γ-globin mRNA. Blood 105, 1807-1809.
-
(2005)
Blood
, vol.105
, pp. 1807-1809
-
-
Weinberg, R.S.1
Ji, X.2
Sutton, M.3
Perrine, S.4
Galperin, Y.5
Li, Q.6
Liebhaber, S.A.7
Stamatoyannopoulos, G.8
Atweh, G.F.9
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