-
3
-
-
0033536288
-
The beta-thalassemias
-
Olivieri, NF. The beta-thalassemias. N Engl J Med. 1999;341:99-109.
-
(1999)
N Engl J Med
, vol.341
, pp. 99-109
-
-
Olivieri, N.F.1
-
4
-
-
0015777676
-
Acquired disorders of hemoglobin
-
Bradley TB, Ranney HM. Acquired disorders of hemoglobin. Prog Hematol. 1973;8:77-98.
-
(1973)
Prog Hematol
, vol.8
, pp. 77-98
-
-
Bradley, T.B.1
Ranney, H.M.2
-
5
-
-
0027204744
-
Increased HbF in adult life
-
Wood WG. Increased HbF in adult life. Baillieres Clin Haematol. 1993;6:177-213.
-
(1993)
Baillieres Clin Haematol
, vol.6
, pp. 177-213
-
-
Wood, W.G.1
-
7
-
-
0014192275
-
Decrease in the concentration of haemoglobin A2 during erythroleukaemia
-
Aksoy M, Erdem S. Decrease in the concentration of haemoglobin A2 during erythroleukaemia. Nature. 1967;213:522-523.
-
(1967)
Nature
, vol.213
, pp. 522-523
-
-
Aksoy, M.1
Erdem, S.2
-
8
-
-
0017801617
-
Acquired haemoglobin H disease in leukemia: Pathophysiology and molecular basis
-
Weatherall DJ, Old J, Longley J, et al. Acquired haemoglobin H disease in leukemia: pathophysiology and molecular basis. Br J Haematol. 1978;38:305-322.
-
(1978)
Br J Haematol
, vol.38
, pp. 305-322
-
-
Weatherall, D.J.1
Old, J.2
Longley, J.3
-
9
-
-
0020616367
-
Clinical features and molecular analysis of acquired hemoglobin H disease
-
Higgs DR, Wood WG, Barton C, Weatherall DJ. Clinical features and molecular analysis of acquired hemoglobin H disease. Am J Med. 1983;75:181-191.
-
(1983)
Am J Med
, vol.75
, pp. 181-191
-
-
Higgs, D.R.1
Wood, W.G.2
Barton, C.3
Weatherall, D.J.4
-
12
-
-
0037305250
-
Hemoglobin H disease: Not necessarily a benign disorder
-
Chui DH, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood. 2003;101:791-800.
-
(2003)
Blood
, vol.101
, pp. 791-800
-
-
Chui, D.H.1
Fucharoen, S.2
Chan, V.3
-
13
-
-
0024509622
-
A review of the molecular genetics of the human alpha-globin gene cluster
-
Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ. A review of the molecular genetics of the human alpha-globin gene cluster. Blood. 1989;73:1081-1104.
-
(1989)
Blood
, vol.73
, pp. 1081-1104
-
-
Higgs, D.R.1
Vickers, M.A.2
Wilkie, A.O.3
Pretorius, I.M.4
Jarman, A.P.5
Weatherall, D.J.6
-
14
-
-
0344406182
-
De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia
-
Viprakasit V, Kidd AM, Ayyub H, Horsley S, Hughes J, Higgs DR. De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia. Br J Haematol. 2003;120:867-875.
-
(2003)
Br J Haematol
, vol.120
, pp. 867-875
-
-
Viprakasit, V.1
Kidd, A.M.2
Ayyub, H.3
Horsley, S.4
Hughes, J.5
Higgs, D.R.6
-
15
-
-
0028939603
-
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)
-
Gibbons RJ, Picketts DJ, Villard L, Higgs DR. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell. 1995;80: 837-845.
-
(1995)
Cell
, vol.80
, pp. 837-845
-
-
Gibbons, R.J.1
Picketts, D.J.2
Villard, L.3
Higgs, D.R.4
-
16
-
-
20244389965
-
Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS)
-
Gibbons RJ, Pellagatti A, Garrick D, et al. Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). Nat Genet. 2003;34:446-449.
-
(2003)
Nat Genet
, vol.34
, pp. 446-449
-
-
Gibbons, R.J.1
Pellagatti, A.2
Garrick, D.3
-
17
-
-
0034908554
-
Nomenclature for the description of human sequence variations
-
den Dunnen JT, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet. 2001;109:121-124.
-
(2001)
Hum Genet
, vol.109
, pp. 121-124
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
18
-
-
0013846440
-
Globin synthesis in thalassaemia: An in vitro study
-
Weatherall DJ, Clegg JB, Naughton MA. Globin synthesis in thalassaemia: an in vitro study. Nature. 1965;208:1061-1065.
-
(1965)
Nature
, vol.208
, pp. 1061-1065
-
-
Weatherall, D.J.1
Clegg, J.B.2
Naughton, M.A.3
-
20
-
-
0031255159
-
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain
-
Gibbons RJ, Bachoo S, Picketts DJ, et al. Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Nat Genet. 1997;17:146-148.
-
(1997)
Nat Genet
, vol.17
, pp. 146-148
-
-
Gibbons, R.J.1
Bachoo, S.2
Picketts, D.J.3
-
21
-
-
0028861418
-
The PHD finger: Implications for chromatin-mediated transcriptional regulation
-
Aasland R, Gibson TJ, Stewart AF. The PHD finger: implications for chromatin-mediated transcriptional regulation. Trends Biochem Sci. 1995; 20:56-59.
-
(1995)
Trends Biochem Sci
, vol.20
, pp. 56-59
-
-
Aasland, R.1
Gibson, T.J.2
Stewart, A.F.3
-
22
-
-
0031807390
-
Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains
-
Picketts DJ, Tastan AO, Higgs DR, Gibbons RJ. Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains. Mamm Genome. 1998;9:400-403.
-
(1998)
Mamm Genome
, vol.9
, pp. 400-403
-
-
Picketts, D.J.1
Tastan, A.O.2
Higgs, D.R.3
Gibbons, R.J.4
-
23
-
-
0029827343
-
ATRX encodes a novel member of the SNF2 family of proteins: Mutations point to a common mechanism underlying the ATR-X syndrome
-
Picketts DJ, Higgs DR, Bachoo S, Blake DJ, Quarrell OW, Gibbons RJ. ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. Hum Mol Genet. 1996;5:1899-1907.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1899-1907
-
-
Picketts, D.J.1
Higgs, D.R.2
Bachoo, S.3
Blake, D.J.4
Quarrell, O.W.5
Gibbons, R.J.6
-
24
-
-
0034069652
-
Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation
-
Gibbons RJ, McDowell TL, Raman S, et al. Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation. Nat Genet. 2000;24:368-371.
-
(2000)
Nat Genet
, vol.24
, pp. 368-371
-
-
Gibbons, R.J.1
McDowell, T.L.2
Raman, S.3
-
25
-
-
13044252871
-
Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes
-
McDowell TL, Gibbons RJ, Sutherland H, et al. Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. Proc Natl Acad Sci U S A. 1999;96:13983-13988.
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 13983-13988
-
-
McDowell, T.L.1
Gibbons, R.J.2
Sutherland, H.3
-
26
-
-
0342514792
-
Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association
-
Berube NG, Smeenk CA, Picketts DJ. Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association. Hum Mol Genet. 2000;9: 539-547.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 539-547
-
-
Berube, N.G.1
Smeenk, C.A.2
Picketts, D.J.3
-
27
-
-
0141703327
-
The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies
-
Xue Y, Gibbons R, Yan Z, et al. The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies. Proc Natl Acad Sci U S A. 2003;100:10635-10640.
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 10635-10640
-
-
Xue, Y.1
Gibbons, R.2
Yan, Z.3
-
28
-
-
0035986065
-
The promyelocytic leukemia nuclear body: Sites of activity?
-
Eskiw CH, Bazett-Jones DP. The promyelocytic leukemia nuclear body: sites of activity? Biochem Cell Biol. 2002;80:301-310.
-
(2002)
Biochem Cell Biol
, vol.80
, pp. 301-310
-
-
Eskiw, C.H.1
Bazett-Jones, D.P.2
-
29
-
-
0028831373
-
Clinical and hematologic aspects of the X-linked alpha-thalassemia/ mental retardation syndrome (ATRX)
-
Gibbons RJ, Brueton L, Buckle VJ, et al. Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATRX). Am J Med Genet. 1995;55:288-299.
-
(1995)
Am J Med Genet
, vol.55
, pp. 288-299
-
-
Gibbons, R.J.1
Brueton, L.2
Buckle, V.J.3
-
31
-
-
0003019174
-
The myelodysplastic syndromes
-
Lee GR, ed. Baltimore, MD: Lippincott, Williams & Wilkins
-
List AF, Doll DC. The myelodysplastic syndromes. In: Lee GR, ed. Wintrobe's Clinical Hematology. 10th ed. Baltimore, MD: Lippincott, Williams & Wilkins; 1999:2320-2341.
-
(1999)
Wintrobe's Clinical Hematology. 10th Ed.
, pp. 2320-2341
-
-
List, A.F.1
Doll, D.C.2
-
32
-
-
0026533308
-
Combined immunophenotyping and DNA in situ hybridization to study lineage involvement in patients with myelodysplastic syndromes
-
Kibbelaar RE, van Kamp H, Dreef EJ, et al. Combined immunophenotyping and DNA in situ hybridization to study lineage involvement in patients with myelodysplastic syndromes. Blood. 1992;79:1823-1828.
-
(1992)
Blood
, vol.79
, pp. 1823-1828
-
-
Kibbelaar, R.E.1
Van Kamp, H.2
Dreef, E.J.3
-
33
-
-
0026781966
-
Clonal involvement of granulocytes and monocytes, but not of T and B lymphocytes and natural killer cells in patients with myelodysplasia: Analysis by X-linked restriction fragment length polymorphisms and polymerase chain reaction of the phosphoglycerate kinase gene
-
van Kamp H, Fibbe WE, Jansen RP, et al. Clonal involvement of granulocytes and monocytes, but not of T and B lymphocytes and natural killer cells in patients with myelodysplasia: analysis by X-linked restriction fragment length polymorphisms and polymerase chain reaction of the phosphoglycerate kinase gene. Blood. 1992;80:1774-1780.
-
(1992)
Blood
, vol.80
, pp. 1774-1780
-
-
Van Kamp, H.1
Fibbe, W.E.2
Jansen, R.P.3
-
34
-
-
0028337826
-
Evidence for nonclonal hematopoietic progenitor cell populations in bone marrow of patients with myelodysplastic syndromes
-
Asano H, Ohashi H, Ichihara M, et al. Evidence for nonclonal hematopoietic progenitor cell populations in bone marrow of patients with myelodysplastic syndromes. Blood. 1994;84:588-594.
-
(1994)
Blood
, vol.84
, pp. 588-594
-
-
Asano, H.1
Ohashi, H.2
Ichihara, M.3
-
35
-
-
0035380289
-
Clonality in the myelodysplastic syndromes
-
Boultwood J, Wainscoat JS. Clonality in the myelodysplastic syndromes. Int J Hematol. 2001;73: 411-415.
-
(2001)
Int J Hematol
, vol.73
, pp. 411-415
-
-
Boultwood, J.1
Wainscoat, J.S.2
-
36
-
-
1542338333
-
A new NIST mitochondrial DNA interactive website
-
Levin BC, Tully LA, Hancock DK, Schwarz FP, Lee MS. A new NIST mitochondrial DNA interactive website. MitoMatters. 2002;1:5-6.
-
(2002)
MitoMatters
, vol.1
, pp. 5-6
-
-
Levin, B.C.1
Tully, L.A.2
Hancock, D.K.3
Schwarz, F.P.4
Lee, M.S.5
-
37
-
-
0037405266
-
Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome
-
Borgione E, Sturnio M, Spalletta A, et al. Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome. Hum Mutat. 2003;21:529-534.
-
(2003)
Hum Mutat
, vol.21
, pp. 529-534
-
-
Borgione, E.1
Sturnio, M.2
Spalletta, A.3
-
38
-
-
0032520681
-
Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations
-
Liu W, Smith DI, Rechtzigel KJ, Thibodeau SN, James CD. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Res. 1998;26:1396-1400.
-
(1998)
Nucleic Acids Res
, vol.26
, pp. 1396-1400
-
-
Liu, W.1
Smith, D.I.2
Rechtzigel, K.J.3
Thibodeau, S.N.4
James, C.D.5
-
39
-
-
0037262226
-
Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes
-
Emmerson P, Maynard J, Jones S, Butler R, Sampson JR, Cheadle JP. Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes. Hum Mutat. 2003;21:112-115.
-
(2003)
Hum Mutat
, vol.21
, pp. 112-115
-
-
Emmerson, P.1
Maynard, J.2
Jones, S.3
Butler, R.4
Sampson, J.R.5
Cheadle, J.P.6
-
40
-
-
0035114679
-
Low level mosaicism detectable by DHPLC but not by direct sequencing
-
Jones AC, Sampson JR, Cheadle JP. Low level mosaicism detectable by DHPLC but not by direct sequencing. Hum Mutat. 2001;17:233-234.
-
(2001)
Hum Mutat
, vol.17
, pp. 233-234
-
-
Jones, A.C.1
Sampson, J.R.2
Cheadle, J.P.3
-
41
-
-
0034667187
-
Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography
-
van Den Bosch BJ, de Coo RF, Scholte HR, et al. Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography. Nucleic Acids Res. 2000;28: E89.
-
(2000)
Nucleic Acids Res
, vol.28
-
-
Van Den Bosch, B.J.1
De Coo, R.F.2
Scholte, H.R.3
-
42
-
-
0037694279
-
Acute myeloid leukemia
-
Giles FJ, Keating A, Goldstone AH, Avivi I, Willman CL, Kantarjlan HM. Acute myeloid leukemia. American Society of Hematology Education Book. 2002:73-110.
-
(2002)
American Society of Hematology Education Book
, pp. 73-110
-
-
Giles, F.J.1
Keating, A.2
Goldstone, A.H.3
Avivi, I.4
Willman, C.L.5
Kantarjlan, H.M.6
-
43
-
-
0035379034
-
Chromosome and molecular abnormalities in myelodysplastic syndromes
-
Fenaux P. Chromosome and molecular abnormalities in myelodysplastic syndromes. Int J Hematol. 2001;73:429-437.
-
(2001)
Int J Hematol
, vol.73
, pp. 429-437
-
-
Fenaux, P.1
|