-
1
-
-
8544284858
-
Molecular characterization of G6PD deficiency in Southern Italy: Heterogeneity, correlation genotype-phenotype and description of a new variant (G6PD Neapolis)
-
Alfinito F, Cimmino A, Ferraro F, Cubellis MV, Vitagliano L, Francese M, Zagari A, Rotoli B, Filosa S, Martini G (1997) Molecular characterization of G6PD deficiency in Southern Italy: heterogeneity, correlation genotype-phenotype and description of a new variant (G6PD Neapolis). Br J Haematol 98:41-46
-
(1997)
Br J Haematol
, vol.98
, pp. 41-46
-
-
Alfinito, F.1
Cimmino, A.2
Ferraro, F.3
Cubellis, M.V.4
Vitagliano, L.5
Francese, M.6
Zagari, A.7
Rotoli, B.8
Filosa, S.9
Martini, G.10
-
3
-
-
0027940492
-
G6PD deficiency
-
Beutler E (1994) G6PD deficiency. Blood 84:3613-3636
-
(1994)
Blood
, vol.84
, pp. 3613-3636
-
-
Beutler, E.1
-
4
-
-
0025203513
-
The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia
-
Beutler E, Kuhl W (1990) The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. Am J Hum Genet 47:1008-1012
-
(1990)
Am J Hum Genet
, vol.47
, pp. 1008-1012
-
-
Beutler, E.1
Kuhl, W.2
-
5
-
-
0036306730
-
Hematologically important mutations: Glucose-6-phosphate dehydrogenase
-
Beutler E, Vulliamy T (2002) Hematologically important mutations: Glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis 28:93-103
-
(2002)
Blood Cells Mol Dis
, vol.28
, pp. 93-103
-
-
Beutler, E.1
Vulliamy, T.2
-
6
-
-
0027520218
-
Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis
-
Calabro V, Mason PJ, Filosa S, Civitelli D, Cittadella R, Tagarelli A, Martini G, Brancati C, Luzzatto L (1993) Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis. Am J Hum Genet 52:527-536
-
(1993)
Am J Hum Genet
, vol.52
, pp. 527-536
-
-
Calabro, V.1
Mason, P.J.2
Filosa, S.3
Civitelli, D.4
Cittadella, R.5
Tagarelli, A.6
Martini, G.7
Brancati, C.8
Luzzatto, L.9
-
7
-
-
15844386537
-
Multiple G6PD mutations are associated with a clinical and biochemical phenotype similar to that of G6PD Mediterranean
-
Cappellini MD, Martinez di Montemuros F, De Bellis G, Debernardi S, Dotti C, Fiorelli G (1996) Multiple G6PD mutations are associated with a clinical and biochemical phenotype similar to that of G6PD Mediterranean. Blood 87:3953-3958
-
(1996)
Blood
, vol.87
, pp. 3953-3958
-
-
Cappellini, M.D.1
Martinez Di Montemuros, F.2
De Bellis, G.3
Debernardi, S.4
Dotti, C.5
Fiorelli, G.6
-
9
-
-
0034824627
-
Prevalence of G-6-PD deficiency in the Croatian Adriatic coast population
-
Krželj V, Zlodre S, Terzić J, Meštrović M, Jakšić J, Pavlov N (2001) Prevalence of G-6-PD deficiency in the Croatian Adriatic coast population. Arch Med Res 32:454-457
-
(2001)
Arch Med Res
, vol.32
, pp. 454-457
-
-
Krželj, V.1
Zlodre, S.2
Terzić, J.3
Meštrović, M.4
Jakšić, J.5
Pavlov, N.6
-
10
-
-
0014680915
-
Glucose 6-phosphate dehydrogenase deficient red cells resistance to infection by malarial parasites
-
Luzzatto L, Usanga EA, Reddy S (1969) Glucose 6-phosphate dehydrogenase deficient red cells resistance to infection by malarial parasites. Science 164:839-842
-
(1969)
Science
, vol.164
, pp. 839-842
-
-
Luzzatto, L.1
Usanga, E.A.2
Reddy, S.3
-
11
-
-
0031452119
-
Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy
-
Martinez di Montemuros F, Dotti C, Tavazzi D, Fiorelli G, Cappellini MD (1997) Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy. Haematologica 82:440-445
-
(1997)
Haematologica
, vol.82
, pp. 440-445
-
-
Martinez Di Montemuros, F.1
Dotti, C.2
Tavazzi, D.3
Fiorelli, G.4
Cappellini, M.D.5
-
13
-
-
0034092961
-
Molecular heterogeneity of the glucose-6-phosphate dehydrogenase deficiency in the Hellenic population
-
Menounos P, Zervas C, Garinnis G, Doukas C, Kolokithopoulos D, Tegos C, Patrinos GP (2000) Molecular heterogeneity of the glucose-6-phosphate dehydrogenase deficiency in the Hellenic population. Hum Hered 50:237-241
-
(2000)
Hum Hered
, vol.50
, pp. 237-241
-
-
Menounos, P.1
Zervas, C.2
Garinnis, G.3
Doukas, C.4
Kolokithopoulos, D.5
Tegos, C.6
Patrinos, G.P.7
-
14
-
-
0036106342
-
Three major glucose-6-phosphate dehydrogenase deficient polymorphic variants identified in Mazandaran state of Iran
-
Mesbah-Namin SA, Sanati MH, Mowjoodi A, Mason PJ, Vulliamy TJ, Noori-Daloii MR (2002) Three major glucose-6-phosphate dehydrogenase deficient polymorphic variants identified in Mazandaran state of Iran. Br J Haematol 117:763-764
-
(2002)
Br J Haematol
, vol.117
, pp. 763-764
-
-
Mesbah-Namin, S.A.1
Sanati, M.H.2
Mowjoodi, A.3
Mason, P.J.4
Vulliamy, T.J.5
Noori-Daloii, M.R.6
-
15
-
-
0029879674
-
Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme
-
Naylor CE, Rowland P, Basak AK, Gover S, Mason PJ, Bautista JM, Vulliamy TJ, Luzzatto L, Adams MJ (1996) Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme. Blood 87:2974-2982
-
(1996)
Blood
, vol.87
, pp. 2974-2982
-
-
Naylor, C.E.1
Rowland, P.2
Basak, A.K.3
Gover, S.4
Mason, P.J.5
Bautista, J.M.6
Vulliamy, T.J.7
Luzzatto, L.8
Adams, M.J.9
-
16
-
-
0036304054
-
Glucose-6-phosphate dehydrogenase deficiency in Portugal: Biochemical and mutational profiles, heterogeneity, and haplotype association
-
Rodrigues Mo, Freire AP, Martinis G, Pereira J, Martinis MD, Monteiro C (2002) Glucose-6-phosphate dehydrogenase deficiency in Portugal: biochemical and mutational profiles, heterogeneity, and haplotype association. Blood Cells Mol Dis 28:249-259
-
(2002)
Blood Cells Mol Dis
, vol.28
, pp. 249-259
-
-
Rodrigues, Mo.1
Freire, A.P.2
Martinis, G.3
Pereira, J.4
Martinis, M.D.5
Monteiro, C.6
-
17
-
-
0028297819
-
The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD Union (454 Arg → Cys) has a worldwide distribution possibly due to recurrent mutation
-
Rovira A, Vulliamy TJ, Pujades A, Luzzatto L, Corrons JL (1994) The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD Union (454 Arg → Cys) has a worldwide distribution possibly due to recurrent mutation. Hum Mol Genet 3:833-835
-
(1994)
Hum Mol Genet
, vol.3
, pp. 833-835
-
-
Rovira, A.1
Vulliamy, T.J.2
Pujades, A.3
Luzzatto, L.4
Corrons, J.L.5
-
18
-
-
0029076429
-
Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria
-
Ruwende C, Khoo SC, Snow RW, Yates SN, Kwiatkowski D, Gupta S, Warn P, Allsopp CE, Gilbert SC, Peschu N, Newbold CI, Greenwood BM, Marsh K, Hill AVS (1995) Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria. Nature 376:246-249
-
(1995)
Nature
, vol.376
, pp. 246-249
-
-
Ruwende, C.1
Khoo, S.C.2
Snow, R.W.3
Yates, S.N.4
Kwiatkowski, D.5
Gupta, S.6
Warn, P.7
Allsopp, C.E.8
Gilbert, S.C.9
Peschu, N.10
Newbold, C.I.11
Greenwood, B.M.12
Marsh, K.13
Hill, A.V.S.14
-
19
-
-
0032238992
-
Genetics analysis of the Glucose-6-phosphate dehydrogenase deficiency in a South Croatia
-
Terzić J, Krželj V, Drmić I, AnCrossed d signelinović Š, Primorac D, Meštrović J, Balarin L (1998) Genetics analysis of the Glucose-6-phosphate dehydrogenase deficiency in a South Croatia. Coll Antropol 22:485-489
-
(1998)
Coll Antropol
, vol.22
, pp. 485-489
-
-
Terzić, J.1
Krželj, V.2
Drmić, I.3
Andelinović, Š.4
Primorac, D.5
Meštrović, J.6
Balarin, L.7
-
20
-
-
0036430184
-
Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Mexico: Overall results of a 7-year project
-
Vaca G, Arambula E, Esparza A (2002) Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Mexico: overall results of a 7-year project. Blood Cells Mol Dis 28:436-444
-
(2002)
Blood Cells Mol Dis
, vol.28
, pp. 436-444
-
-
Vaca, G.1
Arambula, E.2
Esparza, A.3
-
21
-
-
0344985724
-
Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia
-
USA
-
Vulliamy TJ, D'Urso M, Battistuzzi G, Estrada M, Foulkes NS, Martini G, Calabro V, Poggi V, Giordano R, Town M, Luzzatto L, Perscio MG (1988) Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. Proc Natl Acad Sci USA 85:5171-5175
-
(1988)
Proc Natl Acad Sci
, vol.85
, pp. 5171-5175
-
-
Vulliamy, T.J.1
D'Urso, M.2
Battistuzzi, G.3
Estrada, M.4
Foulkes, N.S.5
Martini, G.6
Calabro, V.7
Poggi, V.8
Giordano, R.9
Town, M.10
Luzzatto, L.11
Perscio, M.G.12
-
22
-
-
0026580948
-
The molecular basis of glucose-6-phosphate dehydrogenase deficiency
-
Vulliamy T, Mason P, Luzzato L (1992) The molecular basis of glucose-6-phosphate dehydrogenase deficiency. Trends Genet 8:138-143
-
(1992)
Trends Genet
, vol.8
, pp. 138-143
-
-
Vulliamy, T.1
Mason, P.2
Luzzato, L.3
|