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Volumn , Issue , 2009, Pages 296-320

Unusual types of α Thalassemia

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EID: 77952302514     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1017/CBO9780511596582.021     Document Type: Chapter
Times cited : (10)

References (119)
  • 1
    • 0019784411 scopus 로고
    • Hemoglobin H disease and mental retardation. A new syndrome or a remarkable coincidence?
    • Weatherall DJ, Higgs DR, Bunch C, et al. Hemoglobin H disease and mental retardation. A new syndrome or a remarkable coincidence? NEngl J Med. 1981;305:607-612.
    • (1981) NEngl J Med , vol.305 , pp. 607-612
    • Weatherall, D.J.1    Higgs, D.R.2    Bunch, C.3
  • 2
    • 0025279092 scopus 로고
    • Clinical features and molecular analysis of the α thalassaemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13. 3
    • Wilkie AOM, Buckle VJ, Harris PC, et al. Clinical features and molecular analysis of the α thalassaemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. AmJ Hum Genet. 1990;46:1112-1126.
    • (1990) AmJ Hum Genet , vol.46 , pp. 1112-1126
    • Wilkie, A.O.M.1    Buckle, V.J.2    Harris, P.C.3
  • 3
    • 0025322541 scopus 로고
    • Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the α globin complex
    • Wilkie AOM, Zeitlin HC, Lindenbaum RH, et al. Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the α globin complex. Am J Hum Genet. 1990;46: 1127-1140.
    • (1990) Am J Hum Genet , vol.46 , pp. 1127-1140
    • Wilkie, A.O.M.1    Zeitlin, H.C.2    Lindenbaum, R.H.3
  • 4
    • 0022916035 scopus 로고
    • Contiguous gene syndromes: A component of recognizable syndromes
    • Schmickel RD. Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr. 1986;109:231-241.
    • (1986) J Pediatr , vol.109 , pp. 231-241
    • Schmickel, R.D.1
  • 5
    • 0024652534 scopus 로고
    • Mapping the short arm of human chromosome 16
    • Callen DF, Hyland VJ, Baker EG, et al.Mapping the short arm of human chromosome 16. Genomics. 1989;4:348-354.
    • (1989) Genomics , vol.4 , pp. 348-354
    • Callen, D.F.1    Hyland, V.J.2    Baker, E.G.3
  • 9
    • 0024326126 scopus 로고
    • Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease
    • Lamb J, Wilkie AOM, Harris PC, et al. Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease. Lancet. 1989;ii:819-824.
    • (1989) Lancet , vol.2 , pp. 819-824
    • Lamb, J.1    Wilkie, A.O.M.2    Harris, P.C.3
  • 11
    • 0035052768 scopus 로고    scopus 로고
    • Subtelomeric chromosome rearrangements are detected using an innovative 12-color FISH assay (M-TEL)
    • Brown J, Saracoglu K, Uhrig S, Speicher MR, Eils R, Kearney L. Subtelomeric chromosome rearrangements are detected using an innovative 12-color FISH assay (M-TEL). Nat Med. 2001;7:497-501.
    • (2001) Nat Med , vol.7 , pp. 497-501
    • Brown, J.1    Saracoglu, K.2    Uhrig, S.3    Speicher, M.R.4    Eils, R.5    Kearney, L.6
  • 12
    • 20444435572 scopus 로고    scopus 로고
    • SW-ARRAY:A dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data
    • Price TS, Regan R, Mott R, et al. SW-ARRAY:a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data. Nucl Acids Res. 2005;33:3455-3464.
    • (2005) Nucl Acids Res , vol.33 , pp. 3455-3464
    • Price, T.S.1    Regan, R.2    Mott, R.3
  • 13
    • 33751329250 scopus 로고    scopus 로고
    • Global variation in copy number in the human genome
    • Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature. 2006;444:444-454.
    • (2006) Nature , vol.444 , pp. 444-454
    • Redon, R.1    Ishikawa, S.2    Fitch, K.R.3
  • 14
    • 34247877877 scopus 로고    scopus 로고
    • QuantiSNP: An Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data
    • Colella S, Yau C, Taylor JM, et al. QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucl Acids Res. 2007;35:2013-2025.
    • (2007) Nucl Acids Res , vol.35 , pp. 2013-2025
    • Colella, S.1    Yau, C.2    Taylor, J.M.3
  • 15
    • 35448929519 scopus 로고    scopus 로고
    • Refinement of the genetic cause of ATR-16
    • Harteveld CL, Kriek M, Bijlsma EK, et al. Refinement of the genetic cause of ATR-16. Hum Genet. 2007;122:283-292.
    • (2007) Hum Genet , vol.122 , pp. 283-292
    • Harteveld, C.L.1    Kriek, M.2    Bijlsma, E.K.3
  • 16
    • 29144480573 scopus 로고    scopus 로고
    • Nine unknown rearrangements in 16p13.3 and 11p15. 4 causing alpha-and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification
    • Harteveld CL, Voskamp A, Phylipsen M, et al. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha-and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet. 2005;42:922-931.
    • (2005) J Med Genet , vol.42 , pp. 922-931
    • Harteveld, C.L.1    Voskamp, A.2    Phylipsen, M.3
  • 17
    • 0027494343 scopus 로고
    • De novo truncation of chromosome 16p and healing with (TTAGGG)n in the α-thalassemia/mental retardation syndrome (ATR-16)
    • Lamb J, Harris PC, Wilkie AOM, Wood WG, Dauwerse JG, Higgs DR. De novo truncation of chromosome 16p and healing with (TTAGGG)n in the α-thalassemia/mental retardation syndrome (ATR-16). Am J Hum Genet. 1993;52:668-676.
    • (1993) Am J Hum Genet , vol.52 , pp. 668-676
    • Lamb, J.1    Harris, P.C.2    Wilkie, A.O.M.3    Wood, W.G.4    Dauwerse, J.G.5    Higgs, D.R.6
  • 18
    • 0035864912 scopus 로고    scopus 로고
    • Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16
    • Daniels RJ, Peden JF, Lloyd C, et al. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. Hum Mol Genet. 2001;10:339-352.
    • (2001) Hum Mol Genet , vol.10 , pp. 339-352
    • Daniels, R.J.1    Peden, J.F.2    Lloyd, C.3
  • 19
    • 0035080355 scopus 로고    scopus 로고
    • Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects
    • Horsley SW, Daniels RJ, Anguita E, et al. Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects. Eur J Hum Genet. 2001;9:217-225.
    • (2001) Eur J Hum Genet , vol.9 , pp. 217-225
    • Horsley, S.W.1    Daniels, R.J.2    Anguita, E.3
  • 20
    • 0028278058 scopus 로고
    • The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
    • European Polycystic Kidney Disease Consortium. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell. 1994;77:881-894.
    • (1994) Cell , vol.77 , pp. 881-894
  • 22
    • 0025360106 scopus 로고
    • Genomic imprinting: Review and relevance to human diseases
    • Hall JG. Genomic imprinting: review and relevance to human diseases. AmJ Hum Genet. 1990;46:857-873.
    • (1990) AmJ Hum Genet , vol.46 , pp. 857-873
    • Hall, J.G.1
  • 24
    • 0028058986 scopus 로고
    • Human haploinsufficiency-one for sorrow, two for joy
    • Fisher E, Scambler P. Human haploinsufficiency-one for sorrow, two for joy. Nat Genet. 1994;7:5-7.
    • (1994) Nat Genet , vol.7 , pp. 5-7
    • Fisher, E.1    Scambler, P.2
  • 25
    • 0033995606 scopus 로고    scopus 로고
    • The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome
    • Pfeifer D, Poulat F, Holinski-Feder E, Kooy F, Scherer G. The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome. Genomics. 2000;63:108-116.
    • (2000) Genomics , vol.63 , pp. 108-116
    • Pfeifer, D.1    Poulat, F.2    Holinski-Feder, E.3    Kooy, F.4    Scherer, G.5
  • 27
    • 0025778953 scopus 로고
    • The nondeletion type of α thalassaemia/mental retardation: A recognisable dysmorphic syndrome with X-linked inheritance
    • Wilkie AOM, Pembrey ME, Gibbons RJ, et al. The nondeletion type of α thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X-linked inheritance. J MedGenet. 1991;28:724.
    • (1991) J MedGenet , vol.28 , pp. 724
    • Wilkie, A.O.M.1    Pembrey, M.E.2    Gibbons, R.J.3
  • 28
    • 0026091916 scopus 로고
    • A newly defined X linked mental retardation syndrome associated with α thalassaemia
    • Gibbons RJ, Wilkie AOM, Weatherall DJ, Higgs DR. A newly defined X linked mental retardation syndrome associated with α thalassaemia. J MedGenet. 1991;28:729-733.
    • (1991) J MedGenet , vol.28 , pp. 729-733
    • Gibbons, R.J.1    Wilkie, A.O.M.2    Weatherall, D.J.3    Higgs, D.R.4
  • 29
    • 0033041311 scopus 로고    scopus 로고
    • X-linked mental retardation syndrome with characteristic "coarse" facial appearance, brachydactyly, and short stature maps to proximal Xq
    • Carpenter NJ, Qu Y, Curtis M, Patil SR. X-linked mental retardation syndrome with characteristic "coarse" facial appearance, brachydactyly, and short stature maps to proximal Xq. Am J Med Genet. 1999;85:230-235.
    • (1999) Am J Med Genet , vol.85 , pp. 230-235
    • Carpenter, N.J.1    Qu, Y.2    Curtis, M.3    Patil, S.R.4
  • 31
    • 18444414277 scopus 로고    scopus 로고
    • Expanding phenotype of XNP mutations: Mild to moderate mental retardation
    • Yntema HG, Poppelaars FA, Derksen E, et al. Expanding phenotype of XNP mutations: mild to moderate mental retardation. Am J Med Genet. 2002;110:243-247.
    • (2002) Am J Med Genet , vol.110 , pp. 243-247
    • Yntema, H.G.1    Poppelaars, F.A.2    Derksen, E.3
  • 32
    • 13544277156 scopus 로고    scopus 로고
    • Mutation in the 5ʹ alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome
    • Abidi FE, Cardoso C, Lossi AM, et al. Mutation in the 5ʹ alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. Eur J Hum Genet. 2005;13:176-183.
    • (2005) Eur J Hum Genet , vol.13 , pp. 176-183
    • Abidi, F.E.1    Cardoso, C.2    Lossi, A.M.3
  • 34
    • 0030582983 scopus 로고    scopus 로고
    • Selfinduced vomiting in X-linked α-thalassemia/mental retardation syndrome
    • Kurosawa K, Akatsuka A, Ochiai Y, Ikeda J, Maekawa K. Selfinduced vomiting in X-linked α-thalassemia/mental retardation syndrome. Am JMed Genet. 1996;63:505-506.
    • (1996) Am JMed Genet , vol.63 , pp. 505-506
    • Kurosawa, K.1    Akatsuka, A.2    Ochiai, Y.3    Ikeda, J.4    Maekawa, K.5
  • 35
    • 0031830513 scopus 로고    scopus 로고
    • [Three Japanese children with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)]
    • Wada T, Nakamura M, Matsushita Y, et al. [Three Japanese children with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)]. No To Hattatsu. 1998;30:283-289.
    • (1998) No To Hattatsu , vol.30 , pp. 283-289
    • Wada, T.1    Nakamura, M.2    Matsushita, Y.3
  • 36
    • 0028821354 scopus 로고
    • X-linked alpha thalassemia/mental retardation (ATR-X) syndrome. A new kindred with severe genital anomalies and mild hematologic expression
    • McPherson E, Clemens M, Gibbons RJ, Higgs DR. X-linked alpha thalassemia/mental retardation (ATR-X) syndrome. A new kindred with severe genital anomalies and mild hematologic expression. Am JMed Genet. 1995;55:302-306.
    • (1995) Am JMed Genet , vol.55 , pp. 302-306
    • McPherson, E.1    Clemens, M.2    Gibbons, R.J.3    Higgs, D.R.4
  • 37
    • 0028831373 scopus 로고
    • The clinical and hematological features of the X-linked α thalassemia/mental retardation syndrome (ATR-X)
    • Gibbons RJ, Brueton L, Buckle VJ, et al. The clinical and hematological features of the X-linked α thalassemia/mental retardation syndrome (ATR-X). Am JMed Genet. 1995; 55:288-299.
    • (1995) Am JMed Genet , vol.55 , pp. 288-299
    • Gibbons, R.J.1    Brueton, L.2    Buckle, V.J.3
  • 39
    • 0030115629 scopus 로고    scopus 로고
    • XNP mutation in a large family with Juberg-Marsidi syndrome
    • Villard L, Gecz J, Mattel JF, et al. XNP mutation in a large family with Juberg-Marsidi syndrome. Nat Genet. 1996;12:359-360.
    • (1996) Nat Genet , vol.12 , pp. 359-360
    • Villard, L.1    Gecz, J.2    Mattel, J.F.3
  • 40
    • 0030478337 scopus 로고    scopus 로고
    • A point mutation in the XNP gene, associated with an ATR-X phenotype without α-thalassemia
    • Villard L, Lacombe D, Fontes M. A point mutation in the XNP gene, associated with an ATR-X phenotype without α-thalassemia. Eur J Hum Genet. 1996;4:316-320.
    • (1996) Eur J Hum Genet , vol.4 , pp. 316-320
    • Villard, L.1    Lacombe, D.2    Fontes, M.3
  • 41
    • 0025989438 scopus 로고
    • The nondeletion α thalassaemia/mental retardation syndrome. Further support for X linkage
    • Donnai D, Clayton-Smith J, Gibbons RJ, Higgs DR. The nondeletion α thalassaemia/mental retardation syndrome. Further support for X linkage. J Med Genet. 1991;28:742-745.
    • (1991) J Med Genet , vol.28 , pp. 742-745
    • Donnai, D.1    Clayton-Smith, J.2    Gibbons, R.J.3    Higgs, D.R.4
  • 42
    • 0026687110 scopus 로고
    • Xlinked α thalassemia/mental retardation (ATR-X) syndrome: Localisation to Xq12-21. 31 by X-inactivation and linkage analysis
    • Gibbons RJ, SuthersGK, Wilkie AOM, Buckle VJ, HiggsDR. Xlinked α thalassemia/mental retardation (ATR-X) syndrome: Localisation to Xq12-21.31 by X-inactivation and linkage analysis. AmJ Hum Genet. 1992;51:1136-1149.
    • (1992) AmJ Hum Genet , vol.51 , pp. 1136-1149
    • Gibbons, R.J.1    Suthers, G.K.2    Wilkie, A.O.M.3    Buckle, V.J.4    Higgs, D.R.5
  • 43
    • 33646473832 scopus 로고    scopus 로고
    • Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissues
    • Garrick D, Sharpe JA, Arkell R, et al. Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissues. PLoS Genet. 2006;2:e58.
    • (2006) PLoS Genet , vol.2
    • Garrick, D.1    Sharpe, J.A.2    Arkell, R.3
  • 44
    • 34250893218 scopus 로고    scopus 로고
    • Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model
    • Muers MR, Sharpe JA, Garrick D, et al. Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model. Am J Hum Genet. 2007;80:1138-1149.
    • (2007) Am J Hum Genet , vol.80 , pp. 1138-1149
    • Muers, M.R.1    Sharpe, J.A.2    Garrick, D.3
  • 45
    • 0027955773 scopus 로고
    • Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13. 3
    • Gecz J, Pollard H, Gonzalez G, et al. Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3. Hum Mol Genet. 1994;3:39-44.
    • (1994) Hum Mol Genet , vol.3 , pp. 39-44
    • Gecz, J.1    Pollard, H.2    Gonzalez, G.3
  • 46
    • 0028939603 scopus 로고
    • Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-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 α-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
  • 47
    • 0029827343 scopus 로고    scopus 로고
    • 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 OWJ, 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.J.5    Gibbons, R.J.6
  • 48
    • 0346056814 scopus 로고    scopus 로고
    • A conserved truncated isoform of the ATR-X syndrome protein lacking the SWI/SNF-homology domain
    • Garrick D, Samara V, McDowell TL, et al. A conserved truncated isoform of the ATR-X syndrome protein lacking the SWI/SNF-homology domain. Gene. 2004;326:23-34.
    • (2004) Gene , vol.326 , pp. 23-34
    • Garrick, D.1    Samara, V.2    McDowell, T.L.3
  • 49
    • 0031255159 scopus 로고    scopus 로고
    • Mutations in a transcriptional regulator (hATRX) establish the functional significance of a PHD-like domain
    • Gibbons RJ, Bachoo S, Picketts DJ, et al. Mutations in a transcriptional regulator (hATRX) 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
  • 50
    • 34547542492 scopus 로고    scopus 로고
    • Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX
    • Argentaro A, Yang JC, Chapman L, et al. Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX. Proc Natl Acad Sci USA. 2007;104:11939-11944.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 11939-11944
    • Argentaro, A.1    Yang, J.C.2    Chapman, L.3
  • 51
    • 30944452960 scopus 로고    scopus 로고
    • The PHD finger, a nuclear protein-interaction domain
    • Bienz M. The PHD finger, a nuclear protein-interaction domain. Trends Biochem Sci. 2006;31:35-40.
    • (2006) Trends Biochem Sci , vol.31 , pp. 35-40
    • Bienz, M.1
  • 52
    • 0033784879 scopus 로고    scopus 로고
    • ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein
    • Cardoso C, Lutz Y, Mignon C, et al. ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein. JMedGenet. 2000;37:746-751.
    • (2000) JMedGenet , vol.37 , pp. 746-751
    • Cardoso, C.1    Lutz, Y.2    Mignon, C.3
  • 53
    • 0031807390 scopus 로고    scopus 로고
    • 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. Mammal Genome. 1998;9:400-403.
    • (1998) Mammal Genome , vol.9 , pp. 400-403
    • Picketts, D.J.1    Tastan, A.O.2    Higgs, D.R.3    Gibbons, R.J.4
  • 54
    • 0028292448 scopus 로고
    • The SNF/SWI family of global transcriptional activators
    • Carlson M, Laurent BC. The SNF/SWI family of global transcriptional activators. Curr Opin Cell Biol. 1994;6:396-402.
    • (1994) Curr Opin Cell Biol , vol.6 , pp. 396-402
    • Carlson, M.1    Laurent, B.C.2
  • 55
    • 44849092682 scopus 로고    scopus 로고
    • Mutations in the chromatin associated protein ATRX
    • Gibbons RJ, Wada T, Fisher C, et al. Mutations in the chromatin associated protein ATRX. Hum Mutat. 2008:29:796-802.
    • (2008) Hum Mutat , vol.29 , pp. 796-802
    • Gibbons, R.J.1    Wada, T.2    Fisher, C.3
  • 56
    • 10844230262 scopus 로고    scopus 로고
    • Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation
    • Howard MT, Malik N, Anderson CB, Voskuil JL, Atkins JF, Gibbons RJ. Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation. J Med Genet. 2004;41:951-956.
    • (2004) J Med Genet , vol.41 , pp. 951-956
    • Howard, M.T.1    Malik, N.2    Anderson, C.B.3    Voskuil, J.L.4    Atkins, J.F.5    Gibbons, R.J.6
  • 57
    • 13044252871 scopus 로고    scopus 로고
    • 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 USA. 1999;96:13983-13988.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 13983-13988
    • McDowell, T.L.1    Gibbons, R.J.2    Sutherland, H.3
  • 58
    • 33746890556 scopus 로고    scopus 로고
    • Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome
    • Badens C, Lacoste C, Philip N, et al. Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. Clin Genet. 2006;70:57-62.
    • (2006) Clin Genet , vol.70 , pp. 57-62
    • Badens, C.1    Lacoste, C.2    Philip, N.3
  • 59
    • 0029919960 scopus 로고    scopus 로고
    • A novel mutation in the putative DMA Helicase XH2 is responsible for male-tofemale sex reversal associated with an atypical form of the ATR-X syndrome
    • Ion A, Telvi L, Chaussain JL, et al. A novel mutation in the putative DMA Helicase XH2 is responsible for male-tofemale sex reversal associated with an atypical form of the ATR-X syndrome. AmJ Hum Genet. 1996;58:1185-1191.
    • (1996) AmJ Hum Genet , vol.58 , pp. 1185-1191
    • Ion, A.1    Telvi, L.2    Chaussain, J.L.3
  • 60
    • 0030043739 scopus 로고    scopus 로고
    • Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without α-thalassemia
    • Villard L, Toutain A, Lossi A-M, et al. Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without α-thalassemia. Am J Hum Genet. 1996;58:499-505.
    • (1996) Am J Hum Genet , vol.58 , pp. 499-505
    • Villard, L.1    Toutain, A.2    Lossi, A.-M.3
  • 62
    • 0342514792 scopus 로고    scopus 로고
    • 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
  • 63
    • 0141703327 scopus 로고    scopus 로고
    • The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies
    • Xue Y, Gibbons R, Van Z, et al. The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies. ProcNatl Acad Sci USA. 2003;100:10635-10640.
    • (2003) ProcNatl Acad Sci USA , vol.100 , pp. 10635-10640
    • Xue, Y.1    Gibbons, R.2    Van, Z.3
  • 64
    • 0034069652 scopus 로고    scopus 로고
    • 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
  • 65
    • 0029841744 scopus 로고    scopus 로고
    • A possible involvement of TIF1 alpha and TIF1 beta in the epigenetic control of transcription by nuclear receptors
    • Le Douarin B, Nielsen AL, Gamier JM, et al. A possible involvement of TIF1 alpha and TIF1 beta in the epigenetic control of transcription by nuclear receptors. EMBO J. 1996;15:6701-6715.
    • (1996) EMBO J , vol.15 , pp. 6701-6715
    • Le Douarin, B.1    Nielsen, A.L.2    Gamier, J.M.3
  • 67
    • 33847282970 scopus 로고    scopus 로고
    • Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation
    • Nan X, Hou J, Maclean A, et al. Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. Proc Natl Acad Sci USA. 2007;104:2709-2714.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 2709-2714
    • Nan, X.1    Hou, J.2    Maclean, A.3
  • 68
    • 33745839365 scopus 로고    scopus 로고
    • A PHD finger of NURF couples histone H3 lysine 4 trimethylation with chromatin remodelling
    • Wysocka J, Swigut T, Xiao H, et al. A PHD finger of NURF couples histone H3 lysine 4 trimethylation with chromatin remodelling. Nature. 2006;442:86-90.
    • (2006) Nature , vol.442 , pp. 86-90
    • Wysocka, J.1    Swigut, T.2    Xiao, H.3
  • 69
    • 33745818717 scopus 로고    scopus 로고
    • Molecular mechanism of histone H3K4me3 recognition by plant homeodomain of ING2
    • Pena PV, Davrazou F, Shi X, et al. Molecular mechanism of histone H3K4me3 recognition by plant homeodomain of ING2. Nature. 2006;442:100-103.
    • (2006) Nature , vol.442 , pp. 100-103
    • Pena, P.V.1    Davrazou, F.2    Shi, X.3
  • 70
    • 0035873225 scopus 로고    scopus 로고
    • Dnmt3a binds deacetylases and is recruited by a sequence-specific represser to silence transcription
    • Fuks F, BurgersWA, Godin N, Kasai M, Kouzarides T. Dnmt3a binds deacetylases and is recruited by a sequence-specific represser to silence transcription. EMBO J. 2001;20:2536-2544.
    • (2001) EMBO J , vol.20 , pp. 2536-2544
    • Fuks, F.1    Burgers, W.A.2    Godin, N.3    Kasai, M.4    Kouzarides, T.5
  • 71
    • 2442590725 scopus 로고    scopus 로고
    • A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein
    • Tang J, Wu S, Liu H, et al. A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein. J Biol Chem. 2004;279:20369-20377.
    • (2004) J Biol Chem , vol.279 , pp. 20369-20377
    • Tang, J.1    Wu, S.2    Liu, H.3
  • 72
    • 0031922879 scopus 로고    scopus 로고
    • Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein
    • Cardoso C, Timsit S, Villard L, Khrestchatisky M, Fontes M, Colleaux L. Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein. Hum Mol Genet. 1998;7:679-684.
    • (1998) Hum Mol Genet , vol.7 , pp. 679-684
    • Cardoso, C.1    Timsit, S.2    Villard, L.3    Khrestchatisky, M.4    Fontes, M.5    Colleaux, L.6
  • 73
    • 0035890090 scopus 로고    scopus 로고
    • Lsh, a member of the SNF2 family, is required for genome-wide methylation
    • Dennis K, Fan T, Geiman T, Van Q, Muegge K. Lsh, a member of the SNF2 family, is required for genome-wide methylation. Genes Dev. 2001;15:2940-2944.
    • (2001) Genes Dev , vol.15 , pp. 2940-2944
    • Dennis, K.1    Fan, T.2    Geiman, T.3    Van, Q.4    Muegge, K.5
  • 74
    • 0032907728 scopus 로고    scopus 로고
    • Maintenance of genomic methylation requires a SWI2/SNF2-like protein [see comments]
    • Jeddeloh JA, Stokes TL, Richards EJ.Maintenance of genomic methylation requires a SWI2/SNF2-like protein [see comments]. Nat Genet. 1999;22:94-97.
    • (1999) Nat Genet , vol.22 , pp. 94-97
    • Jeddeloh, J.A.1    Stokes, T.L.2    Richards, E.J.3
  • 75
    • 11244252826 scopus 로고    scopus 로고
    • Acquired α thalassemia in association with myelodysplastic syndrome and other hematologic malignancies
    • Steensma DP, Gibbons RJ, Higgs DR. Acquired α thalassemia in association with myelodysplastic syndrome and other hematologic malignancies. Blood. 2005;105:443-452.
    • (2005) Blood , vol.105 , pp. 443-452
    • Steensma, D.P.1    Gibbons, R.J.2    Higgs, D.R.3
  • 77
    • 0842341422 scopus 로고
    • An unstable haemoglobin associated with some cases of leukaemia
    • White JC, Ellis M, Coleman PN, et al. An unstable haemoglobin associated with some cases of leukaemia. Br J Haematol. 1960;6:171-177.
    • (1960) Br J Haematol , vol.6 , pp. 171-177
    • White, J.C.1    Ellis, M.2    Coleman, P.N.3
  • 78
    • 0032784783 scopus 로고    scopus 로고
    • World Health Organization classification of neoplastic diseases of the hematopoietic and lymphoid tissues: Report of the Clinical Advisory Committee meeting-Airlie House, Virginia, November 1997
    • Harris NL, Jaffe ES, Diebold J, et al. World Health Organization classification of neoplastic diseases of the hematopoietic and lymphoid tissues: report of the Clinical Advisory Committee meeting-Airlie House, Virginia, November 1997. J Clin Oncol. 1999;17:3835-3849.
    • (1999) J Clin Oncol , vol.17 , pp. 3835-3849
    • Harris, N.L.1    Jaffe, E.S.2    Diebold, J.3
  • 79
    • 0020616367 scopus 로고
    • 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
  • 80
    • 0015777676 scopus 로고
    • 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
  • 83
    • 0025016363 scopus 로고
    • Juvenile chronic myelogenous leukaemia: The only example of truly fetal (not fetal-like) erythropoiesis
    • Weinberg RS, Leibowitz D, Weinblatt ME, Kochen J, Alter BP. Juvenile chronic myelogenous leukaemia: the only example of truly fetal (not fetal-like) erythropoiesis. Br J Haematol. 1990;76:307-310.
    • (1990) Br J Haematol , vol.76 , pp. 307-310
    • Weinberg, R.S.1    Leibowitz, D.2    Weinblatt, M.E.3    Kochen, J.4    Alter, B.P.5
  • 85
    • 34848920849 scopus 로고    scopus 로고
    • Prevalence of erythrocyte haemoglobinHinclusions in unselected patients with clonal myeloid disorders
    • Steensma DP, Porcher JC, Hanson CA, et al. Prevalence of erythrocyte haemoglobinHinclusions in unselected patients with clonal myeloid disorders. Br J Haematol. 2007;139:439-442.
    • (2007) Br J Haematol , vol.139 , pp. 439-442
    • Steensma, D.P.1    Porcher, J.C.2    Hanson, C.A.3
  • 86
    • 0034125026 scopus 로고    scopus 로고
    • Determination of reticulocytes: Three methods compared
    • Siekmeier R, Bierlich A, Jaross W. Determination of reticulocytes: three methods compared. Clin Chem Lab Med. 2000;38:245-249.
    • (2000) Clin Chem Lab Med , vol.38 , pp. 245-249
    • Siekmeier, R.1    Bierlich, A.2    Jaross, W.3
  • 87
    • 29744458124 scopus 로고    scopus 로고
    • Understanding α-globin gene regulation: Aiming to improve the management of thalassemia
    • Higgs DR, Garrick D, Anguita E, et al.Understanding α-globin gene regulation: aiming to improve the management of thalassemia. Ann NY Acad Sci. 2005;1054:92-102.
    • (2005) Ann NY Acad Sci , vol.1054 , pp. 92-102
    • Higgs, D.R.1    Garrick, D.2    Anguita, E.3
  • 88
    • 0020483586 scopus 로고
    • Acute lymphoblastic leukemia with brilliant cresyl blue erythrocytic inclusions-acquired hemoglobin H?
    • Kueh YK. Acute lymphoblastic leukemia with brilliant cresyl blue erythrocytic inclusions-acquired hemoglobin H? NEngl J Med. 1982;307:193-194.
    • (1982) NEngl J Med , vol.307 , pp. 193-194
    • Kueh, Y.K.1
  • 89
    • 0020616367 scopus 로고
    • Clinical features and molecular analysis of acquired HbH disease
    • Higgs DR, Wood WG, Barton C, Weatherall DJ. Clinical features and molecular analysis of acquired HbH 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
  • 90
    • 0023026357 scopus 로고
    • Increased alpha:Non-alpha globin chain synthesis ratios in myelodysplastic syndromes and myeloid leukaemia
    • Peters RE, May A, Jacobs A. Increased alpha:non-alpha globin chain synthesis ratios in myelodysplastic syndromes and myeloid leukaemia. J Clin Pathol. 1986;39:1233-1235.
    • (1986) J Clin Pathol , vol.39 , pp. 1233-1235
    • Peters, R.E.1    May, A.2    Jacobs, A.3
  • 91
    • 27844470275 scopus 로고    scopus 로고
    • Ham-Wasserman lecture: Gene regulation in hematopoiesis: New lessons from thalassemia
    • Higgs DR. Ham-Wasserman lecture: gene regulation in hematopoiesis: new lessons from thalassemia. Hematology AmSoc Hematol Edu Program. 2004:1-13.
    • (2004) Hematology AmSoc Hematol Edu Program , pp. 1-13
    • Higgs, D.R.1
  • 92
    • 20244389965 scopus 로고    scopus 로고
    • 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
  • 93
    • 1542283736 scopus 로고    scopus 로고
    • Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations
    • Steensma DP, Higgs DR, Fisher CA, Gibbons RJ. Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations. Blood. 2004;103:2019-2026.
    • (2004) Blood , vol.103 , pp. 2019-2026
    • Steensma, D.P.1    Higgs, D.R.2    Fisher, C.A.3    Gibbons, R.J.4
  • 94
    • 0024264725 scopus 로고
    • The molecular pathology of the alpha globin genes
    • Weatherall DJ, Higgs DR, Clegg JB. The molecular pathology of the alpha globin genes. Br J Cancer. 1988;9(Suppl):17-22.
    • (1988) Br J Cancer , vol.9 , pp. 17-22
    • Weatherall, D.J.1    Higgs, D.R.2    Clegg, J.B.3
  • 95
    • 0842328812 scopus 로고    scopus 로고
    • Deletion of the alpha-globin gene cluster as a cause of acquired alphathalassemia in myelodysplastic syndrome
    • Steensma DP, Viprakasit V, Hendrick A, et al. Deletion of the alpha-globin gene cluster as a cause of acquired alphathalassemia in myelodysplastic syndrome. Blood. 2004;103: 1518-1520.
    • (2004) Blood , vol.103 , pp. 1518-1520
    • Steensma, D.P.1    Viprakasit, V.2    Hendrick, A.3
  • 96
    • 0023197582 scopus 로고
    • S1 nuclease analysis of α-globin gene expression in preleukemic patients with acquired hemoglobin H disease after transfer to mouse erythroleukemia cells
    • Helder J, Deisseroth A. S1 nuclease analysis of α-globin gene expression in preleukemic patients with acquired hemoglobin H disease after transfer to mouse erythroleukemia cells. Proc Natl Acad Sci. USA. 1987;84:2387-2390.
    • (1987) Proc Natl Acad Sci. USA , vol.84 , pp. 2387-2390
    • Helder, J.1    Deisseroth, A.2
  • 97
    • 11244251988 scopus 로고    scopus 로고
    • ATRX and X-linked α-thalassemia mental retardation syndrome
    • Epstein CJ, Erickson RP, Wynshaw-Boris A, eds. Oxford: Oxford University Press
    • Gibbons RJ, Wada T. ATRX and X-linked α-thalassemia mental retardation syndrome. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, eds. Inborn Errors ofDevelopment. Oxford: Oxford University Press; 2004:747-757.
    • (2004) Inborn Errors ofDevelopment , pp. 747-757
    • Gibbons, R.J.1    Wada, T.2
  • 98
    • 27844524061 scopus 로고    scopus 로고
    • A novel 5ʹ ATRX mutation with splicing consequences in acquired alpha thalassemia-myelodysplastic syndrome
    • Nelson ME, Thurmes PJ, Hoyer JD, Steensma DP. A novel 5ʹ ATRX mutation with splicing consequences in acquired alpha thalassemia-myelodysplastic syndrome. Haematologica. 2005;90:1463-1470.
    • (2005) Haematologica , vol.90 , pp. 1463-1470
    • Nelson, M.E.1    Thurmes, P.J.2    Hoyer, J.D.3    Steensma, D.P.4
  • 99
    • 33645702778 scopus 로고    scopus 로고
    • A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome
    • Costa DB, Fisher CA, Miller KB, et al. A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome. Eur JHaematol. 2006;76:432-435, 53.
    • (2006) Eur JHaematol , vol.76
    • Costa, D.B.1    Fisher, C.A.2    Miller, K.B.3
  • 100
    • 85042581045 scopus 로고    scopus 로고
    • Two novel somatic mutations of the ATRX gene in female patients with acquired alpha thalassemia in myelodysplastic syndrome (ATMDS)
    • Haas PS, Schwabe M, Fisher C, et al. Two novel somatic mutations of the ATRX gene in female patients with acquired alpha thalassemia in myelodysplastic syndrome (ATMDS). Blood. 2006;108:A1765.
    • (2006) Blood , vol.108
    • Haas, P.S.1    Schwabe, M.2    Fisher, C.3
  • 101
    • 0034522528 scopus 로고    scopus 로고
    • The Molecular-Clinical Spectrum of the ATR-X Syndrome
    • Gibbons RJ, Higgs DR. The Molecular-Clinical Spectrum of the ATR-X Syndrome. Am JMed Genet. 2000;97:204-212.
    • (2000) Am JMed Genet , vol.97 , pp. 204-212
    • Gibbons, R.J.1    Higgs, D.R.2
  • 102
    • 85042580936 scopus 로고    scopus 로고
    • Abstract 3606: A novel splicing mutation in the gene encoding the chromatin-associated factor ATRX associated with acquired hemoglobin H disease in myelodysplastic syndrome (ATMDS)
    • Steensma DP, Allen S, Gibbons RJ, Fisher CA, Higgs DR. Abstract 3606: A novel splicing mutation in the gene encoding the chromatin-associated factor ATRX associated with acquired hemoglobin H disease in myelodysplastic syndrome (ATMDS). Blood. 2004;104(11):A3606.
    • (2004) Blood , vol.104 , Issue.11
    • Steensma, D.P.1    Allen, S.2    Gibbons, R.J.3    Fisher, C.A.4    Higgs, D.R.5
  • 103
    • 30144443817 scopus 로고    scopus 로고
    • The myelodysplastic syndromes: Diagnosis and treatment
    • Steensma DP, Bennett JM. The myelodysplastic syndromes: diagnosis and treatment.Mayo Clin Proc. 2006;81:104-130.
    • (2006) Mayo Clin Proc , vol.81 , pp. 104-130
    • Steensma, D.P.1    Bennett, J.M.2
  • 104
    • 0036274359 scopus 로고    scopus 로고
    • The fundamental role of epigenetic events in cancer
    • Jones PA, Baylin SB. The fundamental role of epigenetic events in cancer. Nat Rev Genet. 2002;3:415-428.
    • (2002) Nat Rev Genet , vol.3 , pp. 415-428
    • Jones, P.A.1    Baylin, S.B.2
  • 105
    • 0036902962 scopus 로고    scopus 로고
    • DMA methylation and demethylating drugs in myelodysplastic syndromes and secondary leukemias
    • Leone G, Teofili L, Voso MT, Lubbert M. DMA methylation and demethylating drugs in myelodysplastic syndromes and secondary leukemias. Haematologica. 2002;87:1324-1341.
    • (2002) Haematologica , vol.87 , pp. 1324-1341
    • Leone, G.1    Teofili, L.2    Voso, M.T.3    Lubbert, M.4
  • 106
    • 33646071894 scopus 로고    scopus 로고
    • Decitabine improves patient outcomes in myelodysplastic syndromes: Results of a phase III randomized study
    • Kantarjian H, Issa JP, Rpsenfeld CS, et al. Decitabine improves patient outcomes in myelodysplastic syndromes: results of a phase III randomized study. Cancer. 2006;106: 1794-1803.
    • (2006) Cancer , vol.106 , pp. 1794-1803
    • Kantarjian, H.1    Issa, J.P.2    Rpsenfeld, C.S.3
  • 107
    • 0037093195 scopus 로고    scopus 로고
    • Randomized controlled trial of azacitidine in patients with the myelodysplastic syndrome: A study of the cancer and leukemia group B
    • Silverman LR, Demakos EP, Peterson BL, et al. Randomized controlled trial of azacitidine in patients with the myelodysplastic syndrome: a study of the cancer and leukemia group B. J ClinOncol. 2002;20:2429-2440.
    • (2002) J ClinOncol , vol.20 , pp. 2429-2440
    • Silverman, L.R.1    Demakos, E.P.2    Peterson, B.L.3
  • 108
    • 5744248237 scopus 로고    scopus 로고
    • DMA methyltransferase inhibitors in myelodysplastic syndrome
    • Silverman LR. DMA methyltransferase inhibitors in myelodysplastic syndrome. Best Pract Res Clin Haematol. 2004;17:585-594.
    • (2004) Best Pract Res Clin Haematol , vol.17 , pp. 585-594
    • Silverman, L.R.1
  • 110
    • 0026566111 scopus 로고
    • A new gene deletion involving the α2-, α1-, and θ1-globin genes in a Black family with HbH disease
    • Fei YJ, Liu JC, Walker ELDI, Huisman THJ. A new gene deletion involving the α2-, α1-, and θ1-globin genes in a Black family with HbH disease. Am J Hematol. 1992;39:299-303.
    • (1992) Am J Hematol , vol.39 , pp. 299-303
    • Fei, Y.J.1    Liu, J.C.2    Walker, E.L.D.I.3    Huisman, T.H.J.4
  • 111
    • 0021259532 scopus 로고
    • The rare α-thalassemia-1 of Blacks is a ζα-thalassemia-1 associated with deletion of all α-and ζ-globin genes
    • Felice AE, Cleek MP, McKie K, McKie V, Huisman THJ. The rare α-thalassemia-1 of Blacks is a ζα-thalassemia-1 associated with deletion of all α-and ζ-globin genes. Blood. 1984;63:1253-1257.
    • (1984) Blood , vol.63 , pp. 1253-1257
    • Felice, A.E.1    Cleek, M.P.2    McKie, K.3    McKie, V.4    Huisman, T.H.J.5
  • 112
    • 0027503946 scopus 로고
    • Characterization of three de novo derivative chromosomes 16 by 'reverse chromosome painting' and molecular analysis
    • Rack KA, Harris PC, MacCarthy AB, et al. Characterization of three de novo derivative chromosomes 16 by 'reverse chromosome painting' and molecular analysis. Am J Hum Genet. 1993;52:987-997.
    • (1993) Am J Hum Genet , vol.52 , pp. 987-997
    • Rack, K.A.1    Harris, P.C.2    MacCarthy, A.B.3
  • 113
    • 0014159288 scopus 로고
    • Alpha-thalassamie mit HbH und Hb Bart's in einer deutschen Familie
    • Rönich P, Kleihauer E. Alpha-thalassamie mit HbH und Hb Bart's in einer deutschen Familie. Klin Wochenschrift. 1967;45:S1193-1200.
    • (1967) Klin Wochenschrift , vol.45 , pp. S1193-S1200
    • Rönich, P.1    Kleihauer, E.2
  • 114
    • 18844365139 scopus 로고    scopus 로고
    • ATR-16 due to a de novo complex rearrangement of chromosome 16
    • Gallego MS, Zelaya G, Feliu AS, et al. ATR-16 due to a de novo complex rearrangement of chromosome 16. Hemoglobin. 2005;29:141-150.
    • (2005) Hemoglobin , vol.29 , pp. 141-150
    • Gallego, M.S.1    Zelaya, G.2    Feliu, A.S.3
  • 115
    • 37849003792 scopus 로고    scopus 로고
    • Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3
    • Gibson WT, Harvard C, Qiao Y, Somerville MJ, Lewis MES, Rajcan-Separovic E. Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3. Am JMed Genet. 2008;146A:225-232.
    • (2008) Am JMed Genet , vol.146 A , pp. 225-232
    • Gibson, W.T.1    Harvard, C.2    Qiao, Y.3    Somerville, M.J.4    Lewis, M.E.S.5    Rajcan-Separovic, E.6
  • 116
    • 84932603230 scopus 로고    scopus 로고
    • SOLH, a human homologue of the Drosophila melanogaster small optic lobes gene is deleted in ATR-16 syndrome
    • Kamei M, Ades LC, Eyre HJ, Callen DF, Campbell HD. SOLH, a human homologue of the Drosophila melanogaster small optic lobes gene is deleted in ATR-16 syndrome. Appl Genom Proteom. 2002;1:65-71.
    • (2002) Appl Genom Proteom , vol.1 , pp. 65-71
    • Kamei, M.1    Ades, L.C.2    Eyre, H.J.3    Callen, D.F.4    Campbell, H.D.5
  • 117
    • 0034855133 scopus 로고    scopus 로고
    • The thalassemia syndromes: Molecular characterization in the Spanish population
    • Villegas A, Ropero P, Gonzalez FA, Anguita E, Espinos D. The thalassemia syndromes: molecular characterization in the Spanish population. Hemoglobin. 2001;25:273-283.
    • (2001) Hemoglobin , vol.25 , pp. 273-283
    • Villegas, A.1    Ropero, P.2    Gonzalez, F.A.3    Anguita, E.4    Espinos, D.5
  • 118
    • 0020432954 scopus 로고
    • Hemoglobin H disaese and multiple congenital anomalies in a child of northern European origin
    • Hjelle B, Charache S, Phillips JAR. Hemoglobin H disaese and multiple congenital anomalies in a child of northern European origin. Am J Hematol. 1982;13:319-322.
    • (1982) Am J Hematol , vol.13 , pp. 319-322
    • Hjelle, B.1    Charache, S.2    Phillips, J.A.R.3
  • 119
    • 0002581724 scopus 로고
    • The red cell
    • Dallman PR, ed. New York: Appleton-Century-Crofts
    • Dallman PR. The red cell. In: Dallman PR, ed. Blood and Blood-forming Tissues. New York: Appleton-Century-Crofts; 1977:1109-1113.
    • (1977) Blood and Blood-forming Tissues , pp. 1109-1113
    • Dallman, P.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.