-
1
-
-
0032020108
-
The β- and δ-thalassemia repository
-
ninth edition, part I
-
Huisman THJ, Carver MFH. The β- and δ-thalassemia repository (ninth edition, part I). Hemoglobin 1998; 22(2):169-195.
-
(1998)
Hemoglobin
, vol.22
, Issue.2
, pp. 169-195
-
-
Huisman, T.H.J.1
Carver, M.F.H.2
-
2
-
-
0019949838
-
Linkage of β thalassaemia mutations and β globin gene polymorphisms in human β globin gene cluster
-
Orkin SH, Kazazian HH Jr, Antonorakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJV. Linkage of β thalassaemia mutations and β globin gene polymorphisms in human β globin gene cluster. Nature 1982; 296(5858):627-631.
-
(1982)
Nature
, vol.296
, Issue.5858
, pp. 627-631
-
-
Orkin, S.H.1
Kazazian Jr., H.H.2
Antonorakis, S.E.3
Goff, S.C.4
Boehm, C.D.5
Sexton, J.P.6
Waber, P.G.7
Giardina, P.J.V.8
-
3
-
-
0020059153
-
Non-random association of polymorphic restriction sites in the β-globin gene cluster
-
USA
-
Antonarakis SE, Boehm CD, Giardina PJV, Kazazian HH Jr. Non-random association of polymorphic restriction sites in the β-globin gene cluster. Proc Natl Acad Sci USA 1982; 79(1):137-141.
-
(1982)
Proc Natl Acad Sci
, vol.79
, Issue.1
, pp. 137-141
-
-
Antonarakis, S.E.1
Boehm, C.D.2
Giardina, P.J.V.3
Kazazian Jr., H.H.4
-
4
-
-
0021252333
-
Quantification of the close association between DNA haplotypes and specific β-thalassemia mutations in Mediterraneans
-
Kazazian HH Jr, Orkin SH, Markham AF, Chapman CR, Youssoufian H, Waber PG. Quantification of the close association between DNA haplotypes and specific β-thalassemia mutations in Mediterraneans. Nature 1984; 310(5973):152-154.
-
(1984)
Nature
, vol.310
, Issue.5973
, pp. 152-154
-
-
Kazazian Jr., H.H.1
Orkin, S.H.2
Markham, A.F.3
Chapman, C.R.4
Youssoufian, H.5
Waber, P.G.6
-
5
-
-
4544247915
-
Thalassemia in Tunisia: More tasks ahead
-
Wajcman H, Krishnamoorthy R. Thalassemia in Tunisia: more tasks ahead. Hemoglobin 2004; 28(3):171-172.
-
(2004)
Hemoglobin
, vol.28
, Issue.3
, pp. 171-172
-
-
Wajcman, H.1
Krishnamoorthy, R.2
-
6
-
-
4544319099
-
Molecular basis of β-thalassemia in the population of Tunisia
-
Fattoum S, Messaoud T, Bibi A. Molecular basis of β-thalassemia in the population of Tunisia. Hemoglobin 2004; 28(3):177-187.
-
(2004)
Hemoglobin
, vol.28
, Issue.3
, pp. 177-187
-
-
Fattoum, S.1
Messaoud, T.2
Bibi, A.3
-
7
-
-
4544255724
-
Contribution to the description of the β-thalassemia spectrum in Tunisia and the origin of mutation diversity
-
Chouk I, Ben Daoud B, Mellouli F, Bejaoui M, Gerard N, Dellagi K, Abbes S. Contribution to the description of the β-thalassemia spectrum in Tunisia and the origin of mutation diversity. Hemoglobin 2004; 28(3):189-195.
-
(2004)
Hemoglobin
, vol.28
, Issue.3
, pp. 189-195
-
-
Chouk, I.1
Ben Daoud, B.2
Mellouli, F.3
Bejaoui, M.4
Gerard, N.5
Dellagi, K.6
Abbes, S.7
-
8
-
-
4544332591
-
Compound heterozygosity for two new mutations in the β-globin gene [codon 9 (+TA) and polyadenylation site (AATAAA→AAAAAA)] leads to thalassemia intermedia in a Tunisian patient
-
Jacquette A, Le Roux G, Lacombe C, Goossens M, Pissard S. Compound heterozygosity for two new mutations in the β-globin gene [codon 9 (+TA) and polyadenylation site (AATAAA→AAAAAA)] leads to thalassemia intermedia in a Tunisian patient. Hemoglobin 2004; 28(3):243-248.
-
(2004)
Hemoglobin
, vol.28
, Issue.3
, pp. 243-248
-
-
Jacquette, A.1
Le Roux, G.2
Lacombe, C.3
Goossens, M.4
Pissard, S.5
-
9
-
-
33745565867
-
β-Thalassemia in Tunisia: Detection of some rare mutations including a newly discovered frameshift at codons 25/26 (+T)
-
Fattoum S, Öner C, Li HW, Guemira F, Huisman THJ. β-Thalassemia in Tunisia: detection of some rare mutations including a newly discovered frameshift at codons 25/26 (+T). Blood 1990; 76(10)(Suppl 1):60a.
-
(1990)
Blood
, vol.76
, Issue.10 SUPPL. 1
-
-
Fattoum, S.1
Öner, C.2
Li, H.W.3
Guemira, F.4
Huisman, T.H.J.5
-
10
-
-
0024499971
-
+-thalassemia
-
USA
-
+-thalassemia. Proc. Natl Acad Sci USA 1989; 86(3):1041-1045.
-
(1989)
Proc Natl Acad Sci
, vol.86
, Issue.3
, pp. 1041-1045
-
-
Vidaud, M.1
Gattoni, R.2
Stevenin, J.3
Vidaud, D.4
Amselem, S.5
Chibani, J.6
Rosa, J.7
Goossens, M.8
-
11
-
-
0023849720
-
The peculiar spectrum of β thalassemia genes in Tunisia
-
Chibani J, Vidaud M, Duquesnoy P, Bergé-Lefranc JL, Pirastu M, Ellouze F, Rosa J, Goossens M. The peculiar spectrum of β thalassemia genes in Tunisia. Hum Genet 1988; 78(2):190-192.
-
(1988)
Hum Genet
, vol.78
, Issue.2
, pp. 190-192
-
-
Chibani, J.1
Vidaud, M.2
Duquesnoy, P.3
Bergé-Lefranc, J.L.4
Pirastu, M.5
Ellouze, F.6
Rosa, J.7
Goossens, M.8
-
12
-
-
0020049449
-
Construction of human gene libraries from small amounts of peripheral blood: Analysis of β-like globin genes
-
Poncz M, Solowiejczyk D, Harpel B, Mory Y, Schwartz E, Surrey S. Construction of human gene libraries from small amounts of peripheral blood: analysis of β-like globin genes. Hemoglobin 1982; 6(1):27-36.
-
(1982)
Hemoglobin
, vol.6
, Issue.1
, pp. 27-36
-
-
Poncz, M.1
Solowiejczyk, D.2
Harpel, B.3
Mory, Y.4
Schwartz, E.5
Surrey, S.6
-
13
-
-
0027449674
-
Rapid and simultaneous typing of Hemoglobin S. hemoglobin C and seven Mediterranean β-thalassemia mutations by covalent reverse dot blot analysis: Application to prenatal diagnosis in Sicily
-
Maggio A, Giambona A, Cai SP, Wall J, Kan YW, Chehab FF. Rapid and simultaneous typing of Hemoglobin S. hemoglobin C and seven Mediterranean β-thalassemia mutations by covalent reverse dot blot analysis: application to prenatal diagnosis in Sicily. Blood 1993; 81(1):239-242.
-
(1993)
Blood
, vol.81
, Issue.1
, pp. 239-242
-
-
Maggio, A.1
Giambona, A.2
Cai, S.P.3
Wall, J.4
Kan, Y.W.5
Chehab, F.F.6
-
14
-
-
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 1989; 32(1):66-69.
-
(1989)
Am J Hematol
, vol.32
, Issue.1
, pp. 66-69
-
-
Sutton, M.1
Bouhassira, E.E.2
Nagel, R.L.3
-
15
-
-
0031897372
-
Molecular basis of β thalassemia in the Maldives
-
Furnumi H, Firdous N, Inoue T, Ohta H, Winichagoom P, Fuchaoen S, Fukumaki Y. Molecular basis of β thalassemia in the Maldives. Hemoglobin 1998; 22(2):141-151.
-
(1998)
Hemoglobin
, vol.22
, Issue.2
, pp. 141-151
-
-
Furnumi, H.1
Firdous, N.2
Inoue, T.3
Ohta, H.4
Winichagoom, P.5
Fuchaoen, S.6
Fukumaki, Y.7
-
16
-
-
0034012656
-
Identification of three rare β-thalassemia mutations in the Pakistani population
-
Khan SN, Riazuddin S, Galanello R. Identification of three rare β-thalassemia mutations in the Pakistani population. Hemoglobin 2000; 24(1):15-22.
-
(2000)
Hemoglobin
, vol.24
, Issue.1
, pp. 15-22
-
-
Khan, S.N.1
Riazuddin, S.2
Galanello, R.3
-
17
-
-
0021725063
-
The mutation and polymorphism of the human β-globin gene and its surrounding DNA
-
Orkin SH, Kazazian HH Jr. The mutation and polymorphism of the human β-globin gene and its surrounding DNA. Annu Rev Genet 1984; 18:131-171.
-
(1984)
Annu Rev Genet
, vol.18
, pp. 131-171
-
-
Orkin, S.H.1
Kazazian Jr., H.H.2
-
18
-
-
0028263783
-
Detection of common deletional α-thalassemia-2 determinants by PCR
-
Baysal E, Huisman THJ. Detection of common deletional α-thalassemia-2 determinants by PCR. Am J Hematol 1994; 46(3):208-213.
-
(1994)
Am J Hematol
, vol.46
, Issue.3
, pp. 208-213
-
-
Baysal, E.1
Huisman, T.H.J.2
-
19
-
-
0025753747
-
Sickle cell anemia in the Tunisian population: Haplotypinng and Hb F expression
-
Abbes S, Fattoum S, Vidaud M, Goossens M, Rosa J. Sickle cell anemia in the Tunisian population: haplotypinng and Hb F expression. Hemoglobin 1991; 15(1):1-9.
-
(1991)
Hemoglobin
, vol.15
, Issue.1
, pp. 1-9
-
-
Abbes, S.1
Fattoum, S.2
Vidaud, M.3
Goossens, M.4
Rosa, J.5
-
20
-
-
0024595857
-
230(B12)Arg→Thr, a variant associated with β-thalassemia due to a G→C substitution adjacent to the donor splice site of the first intron
-
230(B12) Arg→Thr, a variant associated with β-thalassemia due to a G→C substitution adjacent to the donor splice site of the first intron. Hemoglobin 1989; 13(1):67-74.
-
(1989)
Hemoglobin
, vol.13
, Issue.1
, pp. 67-74
-
-
Gonzalez-Redondo, J.M.1
Stoming, T.A.2
Kutlar, F.3
Kutlar, A.4
Hu, H.5
Wilson, J.B.6
Huisman, T.H.J.7
-
21
-
-
0027281154
-
The spectrum of β-thalassaemia in Algeria: Possible origins of the molecular heterogeneity and a tentative diagnostic strategy
-
Bennani C, Tamouza R, Rouabhi F, Benabadji M, Malou M, Elion J, Labie D, Beldjord C. The spectrum of β-thalassaemia in Algeria: possible origins of the molecular heterogeneity and a tentative diagnostic strategy: Br J Hematol 1993; 84(2):335-337.
-
(1993)
Br J Hematol
, vol.84
, Issue.2
, pp. 335-337
-
-
Bennani, C.1
Tamouza, R.2
Rouabhi, F.3
Benabadji, M.4
Malou, M.5
Elion, J.6
Labie, D.7
Beldjord, C.8
-
22
-
-
0024842517
-
β-Thalassemia mutations in Indonesia and their linkage to β haplotypes
-
Lie-Injo LE, Cai SP, Wahidijat I, Moeslichan S, Lim ML, Evangelista L, Doherty M, Kan YW. β-Thalassemia mutations in Indonesia and their linkage to β haplotypes. Am J Hum Genet 1989; 45(6):971-975.
-
(1989)
Am J Hum Genet
, vol.45
, Issue.6
, pp. 971-975
-
-
Lie-Injo, L.E.1
Cai, S.P.2
Wahidijat, I.3
Moeslichan, S.4
Lim, M.L.5
Evangelista, L.6
Doherty, M.7
Kan, Y.W.8
-
23
-
-
0030948547
-
A significant β-thalassemia heterogeneity in the United Arab Emirates
-
El-Kalla S, Mathews AR. A significant β-thalassemia heterogeneity in the United Arab Emirates. Hemoglobin 1997; 21(3):237-247.
-
(1997)
Hemoglobin
, vol.21
, Issue.3
, pp. 237-247
-
-
El-Kalla, S.1
Mathews, A.R.2
-
24
-
-
0035091652
-
Molecular spectrum of β-thalassemia in the Iranian province of Hormozgan
-
Yavarian M, Harteveld CL, Batelaan D, Bernini LF, Giordano PC. Molecular spectrum of β-thalassemia in the Iranian province of Hormozgan. Hemoglobin 2001; 25(1):35-43.
-
(2001)
Hemoglobin
, vol.25
, Issue.1
, pp. 35-43
-
-
Yavarian, M.1
Harteveld, C.L.2
Batelaan, D.3
Bernini, L.F.4
Giordano, P.C.5
-
25
-
-
0030839631
-
Prenatal diagnosis of β-thalassemia among Indians using denaturing gradient gel electrophoresis
-
Gorakshakar AC, Lulla CP, Nadkarni AH, Pawar AR, Desai SN, Colah RB, Mohanty D. Prenatal diagnosis of β-thalassemia among Indians using denaturing gradient gel electrophoresis. Hemoglobin 1994; 21(5):421-435.
-
(1994)
Hemoglobin
, vol.21
, Issue.5
, pp. 421-435
-
-
Gorakshakar, A.C.1
Lulla, C.P.2
Nadkarni, A.H.3
Pawar, A.R.4
Desai, S.N.5
Colah, R.B.6
Mohanty, D.7
-
26
-
-
18244409133
-
A multi-center study in order to further define the molecular basis of β-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction
-
Old JM, Khan SN, Verma I, Fucharoen S, Kleanthous M, Ioannou P, Kotea N, Fisher C, Riazuddin S, Saxena R, Winichagoon P, Kyriacou K, Al-Quobaili F, Khan B. A multi-center study in order to further define the molecular basis of β-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction. Hemoglobin 2001; 25(4):397-407.
-
(2001)
Hemoglobin
, vol.25
, Issue.4
, pp. 397-407
-
-
Old, J.M.1
Khan, S.N.2
Verma, I.3
Fucharoen, S.4
Kleanthous, M.5
Ioannou, P.6
Kotea, N.7
Fisher, C.8
Riazuddin, S.9
Saxena, R.10
Winichagoon, P.11
Kyriacou, K.12
Al-Quobaili, F.13
Khan, B.14
-
28
-
-
0028176093
-
The spectrum of β-thalassemia mutations in the Oran region of Algeria
-
Bouhass R, Perrin P, Trabuchet G. The spectrum of β-thalassemia mutations in the Oran region of Algeria. Hemoglobin 1994;18(3):211-219.
-
(1994)
Hemoglobin
, vol.18
, Issue.3
, pp. 211-219
-
-
Bouhass, R.1
Perrin, P.2
Trabuchet, G.3
-
30
-
-
0025158084
-
A new mutation at IVS-I nt 2 (T→A) in β-thalassemia from Algeria
-
Bouhass R, Aguercif M, Trabuchet G, Godet J. A new mutation at IVS-I nt 2 (T→A) in β-thalassemia from Algeria. Blood 1990; 76(5):1054-1055.
-
(1990)
Blood
, vol.76
, Issue.5
, pp. 1054-1055
-
-
Bouhass, R.1
Aguercif, M.2
Trabuchet, G.3
Godet, J.4
|