-
1
-
-
0031906394
-
The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia
-
May A., and Bishop D.F. The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia. Haematologica 83 (1998) 56-70
-
(1998)
Haematologica
, vol.83
, pp. 56-70
-
-
May, A.1
Bishop, D.F.2
-
2
-
-
0037818369
-
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia
-
Bekri S., May A., Cotter P.D., et al. A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. Blood 102 (2003) 698-704
-
(2003)
Blood
, vol.102
, pp. 698-704
-
-
Bekri, S.1
May, A.2
Cotter, P.D.3
-
3
-
-
0036893199
-
Absent phenotypic expression of X-linked sideroblastic anemia in one of two brothers with a novel ALAS2 mutation
-
Cazzola M., May A., Bergamaschi G., et al. Absent phenotypic expression of X-linked sideroblastic anemia in one of two brothers with a novel ALAS2 mutation. Blood 100 (2002) 4236-4238
-
(2002)
Blood
, vol.100
, pp. 4236-4238
-
-
Cazzola, M.1
May, A.2
Bergamaschi, G.3
-
4
-
-
0034672159
-
Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females
-
Cazzola M., May A., Bergamaschi G., et al. Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. Blood 96 (2000) 4363-4365
-
(2000)
Blood
, vol.96
, pp. 4363-4365
-
-
Cazzola, M.1
May, A.2
Bergamaschi, G.3
-
5
-
-
33745945731
-
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns
-
Aivado M., Gattermann N., Rong A., et al. X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. Blood Cells Mol. Dis. 37 (2006) 40-45
-
(2006)
Blood Cells Mol. Dis.
, vol.37
, pp. 40-45
-
-
Aivado, M.1
Gattermann, N.2
Rong, A.3
-
6
-
-
0025811624
-
Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA
-
Cox T.C., Bawden M.J., Martin A., and May B.K. Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA. EMBO J. 10 (1991) 1891-1902
-
(1991)
EMBO J.
, vol.10
, pp. 1891-1902
-
-
Cox, T.C.1
Bawden, M.J.2
Martin, A.3
May, B.K.4
-
7
-
-
0030811101
-
Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA
-
Cazzola M., Bergamaschi G., Tonon L., et al. Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA. Blood 90 (1997) 814-821
-
(1997)
Blood
, vol.90
, pp. 814-821
-
-
Cazzola, M.1
Bergamaschi, G.2
Tonon, L.3
-
8
-
-
0034964604
-
A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload
-
Kato J., Fujikawa K., Kanda M., et al. A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. Am. J. Hum. Genet. 69 (2001) 191-197
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 191-197
-
-
Kato, J.1
Fujikawa, K.2
Kanda, M.3
-
9
-
-
2342440466
-
Disruption of ferroportin 1 regulation causes dynamic alterations in iron homeostasis and erythropoiesis in polycythaemia mice
-
Mok H., Jelinek J., Pai S., et al. Disruption of ferroportin 1 regulation causes dynamic alterations in iron homeostasis and erythropoiesis in polycythaemia mice. Development 131 (2004) 1859-1868
-
(2004)
Development
, vol.131
, pp. 1859-1868
-
-
Mok, H.1
Jelinek, J.2
Pai, S.3
-
10
-
-
20044386676
-
Iron overload in patients with chronic hepatitis C virus infection: clinical and histological study
-
Silva I.S., Perez R.M., Oliveira P.V., et al. Iron overload in patients with chronic hepatitis C virus infection: clinical and histological study. J. Gastroenterol. Hepatol. 20 (2005) 243-248
-
(2005)
J. Gastroenterol. Hepatol.
, vol.20
, pp. 243-248
-
-
Silva, I.S.1
Perez, R.M.2
Oliveira, P.V.3
-
11
-
-
33744757319
-
Role of hemochromatosis genes in chronic hepatitis C
-
Gattoni A., Parlato A., Vangieri B., et al. Role of hemochromatosis genes in chronic hepatitis C. Clin. Ter. 157 (2006) 61-68
-
(2006)
Clin. Ter.
, vol.157
, pp. 61-68
-
-
Gattoni, A.1
Parlato, A.2
Vangieri, B.3
-
12
-
-
4744358094
-
Iron, the HFE gene, and hepatitis C
-
Eisenbach C., Gehrke S.G., and Stremmel W. Iron, the HFE gene, and hepatitis C. Clin. Liver Dis. 8 (2004) 775-785
-
(2004)
Clin. Liver Dis.
, vol.8
, pp. 775-785
-
-
Eisenbach, C.1
Gehrke, S.G.2
Stremmel, W.3
-
13
-
-
2542468736
-
The spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis
-
Lanzara C., Roetto A., Daraio F., et al. The spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood 103 (2004) 4317-4321
-
(2004)
Blood
, vol.103
, pp. 4317-4321
-
-
Lanzara, C.1
Roetto, A.2
Daraio, F.3
-
14
-
-
20244388240
-
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
-
Roetto A., Papanikolaou G., Politou M., et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat. Genet. 33 (2003) 21-22
-
(2003)
Nat. Genet.
, vol.33
, pp. 21-22
-
-
Roetto, A.1
Papanikolaou, G.2
Politou, M.3
-
15
-
-
0035049344
-
Mutation analysis of the transferrin receptor-2 gene in patients with iron overload
-
Lee P.L., Halloran C., West C., and Beutler E. Mutation analysis of the transferrin receptor-2 gene in patients with iron overload. Blood Cells Mol. Dis. 27 (2001) 285-289
-
(2001)
Blood Cells Mol. Dis.
, vol.27
, pp. 285-289
-
-
Lee, P.L.1
Halloran, C.2
West, C.3
Beutler, E.4
-
16
-
-
2942619988
-
Genetic abnormalities and juvenile hemochromatosis mutations of the HJV gene encoding hemojuvelin
-
Lee P.L., Beutler E., Rao S.V., and Barton J.C. Genetic abnormalities and juvenile hemochromatosis mutations of the HJV gene encoding hemojuvelin. Blood 103 (2004) 4669-4671
-
(2004)
Blood
, vol.103
, pp. 4669-4671
-
-
Lee, P.L.1
Beutler, E.2
Rao, S.V.3
Barton, J.C.4
-
17
-
-
0035206994
-
A study of genes that may modulate the expression of hereditary hemochromatosis: Transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2,and hepcidin
-
Lee P.L., Gelbart T., West C., et al. A study of genes that may modulate the expression of hereditary hemochromatosis: Transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2,and hepcidin. Blood Cells Mol. Dis. 27 (2001) 783-802
-
(2001)
Blood Cells Mol. Dis.
, vol.27
, pp. 783-802
-
-
Lee, P.L.1
Gelbart, T.2
West, C.3
-
18
-
-
33646823634
-
Disparate phenotypic expression of ALAS2 R452H (nt 1407 G ->A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma
-
Barton J.C., and Lee P.L. Disparate phenotypic expression of ALAS2 R452H (nt 1407 G ->A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma. Blood Cells Mol. Dis. 36 (2006) 342-346
-
(2006)
Blood Cells Mol. Dis.
, vol.36
, pp. 342-346
-
-
Barton, J.C.1
Lee, P.L.2
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