-
1
-
-
4243429277
-
Disorders of hemoglobin structure and synthesis
-
Jameson JL, ed. Totowa, NJ: Humana Press
-
Thein SL, Rochette J. Disorders of hemoglobin structure and synthesis. In: Jameson JL, ed. Principles of Molecular Medicine. Totowa, NJ: Humana Press; 1998:179-190.
-
(1998)
Principles of Molecular Medicine
, pp. 179-190
-
-
Thein, S.L.1
Rochette, J.2
-
3
-
-
33847029575
-
A novel β-thalassemic allele due to a two nucleotide deletion: b76 (-GC)
-
DOI 10.1080/03630260601057021, PII 770425169
-
Foulon K, Rochette J, Cadet E. A novel β-thalassemic allele due to a two nucleotide deletion: b76 (-GC). Hemoglobin. 2007;31(1):31-37. (Pubitemid 46269314)
-
(2007)
Hemoglobin
, vol.31
, Issue.1
, pp. 31-37
-
-
Foulon, K.1
Rochette, J.2
Cadet, E.3
-
4
-
-
0026315968
-
Identification of four novel δ-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis
-
Trifillis P, Ioannou P, Schwartz E, Surrey S. Identification of four novel δ-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis. Blood. 1991;78(12):3298-3305.
-
(1991)
Blood
, vol.78
, Issue.12
, pp. 3298-3305
-
-
Trifillis, P.1
Ioannou, P.2
Schwartz, E.3
Surrey, S.4
-
5
-
-
32544432388
-
Known and new d globin gene mutations and their diagnostic significance
-
Bouva MJ, Harteveld CL, Van Delft P, Giordano PC. Known and new d globin gene mutations and their diagnostic significance. Haematologica. 2006;91(1):129-132. (Pubitemid 43235396)
-
(2006)
Haematologica
, vol.91
, Issue.1
, pp. 129-132
-
-
Bouva, M.J.1
Harteveld, C.L.2
Van Delft, P.3
Giordano, P.C.4
-
6
-
-
0028261204
-
Association of a novel high oxygen affinity haemoglobin variant with δβ thalassaemia
-
Rochette J, Barnetson R, Kiger L, et al. Association of a novel high oxygen affinity haemoglobin variant with δβ thalassaemia. Br J Haematol. 1994;86(1):118-124. (Pubitemid 24194390)
-
(1994)
British Journal of Haematology
, vol.86
, Issue.1
, pp. 118-124
-
-
Rochette, J.1
Barnetson, R.2
Kiger, L.3
Kister, J.4
Littlewood, T.J.5
Webster, R.6
Poyart, C.7
Thein, S.L.8
-
8
-
-
0034091983
-
Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions
-
DOI 10.1046/j.1365-2141.2000.01870.x
-
Liu YT, Old JM, Miles K, Fisher CA, Weatherall DJ, Clegg JB. Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol. 2000;108(2):295-299. (Pubitemid 30143644)
-
(2000)
British Journal of Haematology
, vol.108
, Issue.2
, pp. 295-299
-
-
Liu, Y.T.1
Old, J.M.2
Miles, K.3
Fisher, C.A.4
Weatherall, D.J.5
Clegg, J.B.6
-
9
-
-
0017865242
-
PROTEINES SERIQUES et ENZYMES ERYTHROCYTAIRES. EVALUATION des FREQUENCES CHEZ DEUX POPULATIONS GABONNAISES
-
Seger J, Languillat G. Serum proteins and erythrocyte enzymes. Evaluation of frequencies in 2 populations in the Gabon. Rev Fr Transfus Immunohematol. 1978;21(3):795-804. (Pubitemid 8364386)
-
(1978)
Revue Francaise de Transfusion et Immuno-Hematologie
, vol.21
, Issue.3
, pp. 795-804
-
-
Seger, J.1
Languillat, G.2
-
10
-
-
40449123352
-
β-Thalassemia intermedia due to two novel mutations in the promoter region of the β-globin gene
-
DOI 10.1111/j.1600-0609.2007.01017.x
-
Agouti I, Bennani M, Meyer N, Levy N, Badens C. β-Thalassaemia intermedia due to two novel mutations in the promoter region of the β-globin gene. Eur J Haematol. 2008;80:346-350. (Pubitemid 351350613)
-
(2008)
European Journal of Haematology
, vol.80
, Issue.4
, pp. 346-350
-
-
Agouti, I.1
Bennani, M.2
Nezri, M.3
Levy, N.4
Badens, C.5
-
11
-
-
36749039688
-
A novel mutation of the β-globin gene promoter (-102 C>A) and pitfalls in family screening
-
DOI 10.1002/ajh.21000
-
Aguilar-Martinez P, Jourdan E, Brun S, et al. A novel mutation of the β-globin gene promoter (- 102 C>A) and pitfalls in family screening. Am J Hematol. 2007;82(12):1088-1090. (Pubitemid 350209851)
-
(2007)
American Journal of Hematology
, vol.82
, Issue.12
, pp. 1088-1090
-
-
Aguilar-Martinez, P.1
Jourdan, E.2
Brun, S.3
Cunat, S.4
Giansily-Blaizot, M.5
Pissard, S.6
Schved, J.-F.7
-
12
-
-
17644447555
-
Silent thalassemias: Genotypes and phenotypes
-
Bianco I, Cappabianca MP, Foglietta E, et al. Silent thalassemias: genotypes and phenotypes. Haematologica. 1997;82(3):269-280.
-
(1997)
Haematologica
, vol.82
, Issue.3
, pp. 269-280
-
-
Bianco, I.1
Cappabianca, M.P.2
Foglietta, E.3
-
13
-
-
0024477306
-
A C→T substitution at nt -101 in a conserved DNA sequence of the promoter region of the β-globin gene is associated with "silent" β-thalassemia
-
Gonzalez-Redondo JM, Stoming TA, Kutlar A, et al. A C→T substitution at nt -101 in a conserved DNA sequence of the promoter region of the β-globin gene is associated with "silent" β-thalassemia. Blood. 1989;73(6):1705-1711.
-
(1989)
Blood
, vol.73
, Issue.6
, pp. 1705-1711
-
-
Gonzalez-Redondo, J.M.1
Stoming, T.A.2
Kutlar, A.3
-
14
-
-
0347125141
-
Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for populations and sequence variation studies
-
Patrinos GP, Giardine B, Riemer C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32(Database issue):D537-D541 (http://globin.cse.psu.edu). (Pubitemid 38081716)
-
(2004)
Nucleic Acids Research
, vol.32
, Issue.DATABASE ISS
-
-
Patrinos, G.P.1
Giardine, B.2
Riemer, C.3
Miller, W.4
Chui, D.H.K.5
Anagnou, N.P.6
Wajcman, H.7
Hardison, R.C.8
-
15
-
-
0036190154
-
HbVar. a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
-
DOI 10.1002/humu.10044
-
Hardison RC, Chui DHK, Giardine B, et al. HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225-233 (http://globin.sce.psu.edu). (Pubitemid 34195183)
-
(2002)
Human Mutation
, vol.19
, Issue.3
, 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
-
17
-
-
34547572421
-
A novel mutation of -73(A→T) in the CCAAT box of the β-globin gene identified in a patient with the mild β-thalassemia intermedia
-
DOI 10.1007/s00277-007-0312-8
-
Chen XW, Mo QH, Li Q, Zeng R, Xu XM. A novel mutation of -73 (A→T) in the CCAT box of the β-globin gene identified in a patient with the mild β-thalassemia intermedia. Ann Hematol. 2007;86(9):653-657. (Pubitemid 47193594)
-
(2007)
Annals of Hematology
, vol.86
, Issue.9
, pp. 653-657
-
-
Chen, X.-W.1
Mo, Q.-H.2
Li, Q.3
Zeng, R.4
Xu, X.-M.5
-
18
-
-
0028279382
-
2 levels: Implication for β-thalassemia carrier screening
-
2 levels: Implication for β-thalassemia carrier screening. Am J Hematol. 1994;46(2):79-81
-
(1994)
Am J Hematol.
, vol.46
, Issue.2
, pp. 79-81
-
-
Galanello, R.1
Barella, S.2
Ideo, A.3
|