메뉴 건너뛰기




Volumn 45, Issue 4, 2006, Pages 375-382

Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies

Author keywords

[No Author keywords available]

Indexed keywords

ACUTE GRANULOCYTIC LEUKEMIA; ADOLESCENT; ARTICLE; BONE MARROW; CHILD; CHROMOSOME 20; CHROMOSOME 7; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; DYSPLASIA; FEMALE; FOLLOW UP; HUMAN; ISOCHROMOSOME; MALE; MOLECULAR GENETICS; MYELODYSPLASTIC SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SHWACHMAN SYNDROME;

EID: 33644755462     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.20301     Document Type: Article
Times cited : (40)

References (31)
  • 4
    • 0030729911 scopus 로고    scopus 로고
    • Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome
    • Dokal I, Rule S, Chen F, Potter M, Goldman J. 1997. Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome. Br J Haematol 99:171-173.
    • (1997) Br J Haematol , vol.99 , pp. 171-173
    • Dokal, I.1    Rule, S.2    Chen, F.3    Potter, M.4    Goldman, J.5
  • 5
    • 0031702803 scopus 로고    scopus 로고
    • Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome
    • Dror Y, Squire J, Durie P, Freedman MH. 1998. Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome. Leukemia 12:1591-1595.
    • (1998) Leukemia , vol.12 , pp. 1591-1595
    • Dror, Y.1    Squire, J.2    Durie, P.3    Freedman, M.H.4
  • 6
    • 0036042153 scopus 로고    scopus 로고
    • Shwachman-Diamond syndrome
    • Dror Y, Freedman MH. 2002. Shwachman-Diamond syndrome. Br J Haematol 118:701-713.
    • (2002) Br J Haematol , vol.118 , pp. 701-713
    • Dror, Y.1    Freedman, M.H.2
  • 8
    • 0033498587 scopus 로고    scopus 로고
    • Increased spontaneous chromosomal breakage in Shwachman syndrome
    • Hershkovits BS, Dagan J, Freier S. 1999. Increased spontaneous chromosomal breakage in Shwachman syndrome. J Pediatr Gastr Nutr 28:449-450.
    • (1999) J Pediatr Gastr Nutr , vol.28 , pp. 449-450
    • Hershkovits, B.S.1    Dagan, J.2    Freier, S.3
  • 9
  • 13
    • 22044432003 scopus 로고    scopus 로고
    • Hematologic abnormalities in Shwachman Diamond syndrome: Lack of genotype-phenotype relationship
    • Kuijpers TW, Alders M, Fool ATJ, Mellink C, Roos D, Hennekam RCM. 2005. Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. Blood 106:356-361.
    • (2005) Blood , vol.106 , pp. 356-361
    • Kuijpers, T.W.1    Alders, M.2    Fool, A.T.J.3    Mellink, C.4    Roos, D.5    Hennekam, R.C.M.6
  • 14
    • 33644784214 scopus 로고    scopus 로고
    • Presenza di un isocromosoma 7Q in una paziente con Sindrome di Shwachman-Diamond in assenza di altri segni di evoluzione in MDS/AML
    • 29 Novembre-1 Dicembre 2000; abstracts
    • Leszl A, Sainati L, Galtarossa E, Stramare D, Basso G. 2000. Presenza di un isocromosoma 7Q in una paziente con Sindrome di Shwachman-Diamond in assenza di altri segni di evoluzione in MDS/AML. 3° Congresso Nazionale S.I.G.U., Orvieto, 29 Novembre-1 Dicembre 2000; abstracts, p 247.
    • (2000) 3° Congresso Nazionale S.I.G.U., Orvieto , pp. 247
    • Leszl, A.1    Sainati, L.2    Galtarossa, E.3    Stramare, D.4    Basso, G.5
  • 16
    • 5144224123 scopus 로고    scopus 로고
    • SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: No predisposition to malignant transformation?
    • Mellinck CHM, Alders M, van der Lelie H, Hennekam RHC, Kuijpers TW. 2004. SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation? Cancer Genet Cytogenet 154:144-149.
    • (2004) Cancer Genet Cytogenet , vol.154 , pp. 144-149
    • Mellinck, C.H.M.1    Alders, M.2    Van Der Lelie, H.3    Hennekam, R.H.C.4    Kuijpers, T.W.5
  • 18
    • 0031920691 scopus 로고    scopus 로고
    • Bone marrow transplantation in Shwachman-Diamond syndrome: Report of two cases and review of the literature
    • Okcu F, Roberts WM, Chan KW. 1998. Bone marrow transplantation in Shwachman-Diamond syndrome: report of two cases and review of the literature. Bone Marrow Transplant 21:849-851.
    • (1998) Bone Marrow Transplant , vol.21 , pp. 849-851
    • Okcu, F.1    Roberts, W.M.2    Chan, K.W.3
  • 19
    • 85047698302 scopus 로고    scopus 로고
    • Fine mapping of locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene
    • Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, Boocock G, Durie PR, Rommens JM. 2002. Fine mapping of locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene. Eur J Hum Genet 10:250-258.
    • (2002) Eur J Hum Genet , vol.10 , pp. 250-258
    • Popovic, M.1    Goobie, S.2    Morrison, J.3    Ellis, L.4    Ehtesham, N.5    Richards, N.6    Boocock, G.7    Durie, P.R.8    Rommens, J.M.9
  • 20
    • 0032968415 scopus 로고    scopus 로고
    • The influence of age, sex and smoking habits on the background level of fish-detected translocations
    • Pressl S, Edwards A, Stephan G. 1999. The influence of age, sex and smoking habits on the background level of fish-detected translocations. Mutat Res 442:89-95.
    • (1999) Mutat Res , vol.442 , pp. 89-95
    • Pressl, S.1    Edwards, A.2    Stephan, G.3
  • 21
    • 0038277093 scopus 로고    scopus 로고
    • Chromosome 20q deletion and progression to monosomy 7 in a patient with Shwachman-Diamond syndrome without MDS/AML
    • Raj AB, Bertolone SJ, Barch MJ, Hersh JH. 2003. Chromosome 20q deletion and progression to monosomy 7 in a patient with Shwachman-Diamond syndrome without MDS/AML. J Pediatr Hematol Oncol 25:508-509.
    • (2003) J Pediatr Hematol Oncol , vol.25 , pp. 508-509
    • Raj, A.B.1    Bertolone, S.J.2    Barch, M.J.3    Hersh, J.H.4
  • 24
    • 0028215684 scopus 로고
    • Parental origin of chromosome 7 loss in childhood monosomy 7 syndrome
    • Savage P, Frenck R, Paderanga D, Emperor J, Shannon KM. 1994. Parental origin of chromosome 7 loss in childhood monosomy 7 syndrome. Leukemia 8:485-489.
    • (1994) Leukemia , vol.8 , pp. 485-489
    • Savage, P.1    Frenck, R.2    Paderanga, D.3    Emperor, J.4    Shannon, K.M.5
  • 26
    • 0032739845 scopus 로고    scopus 로고
    • Discordant detection of monosomy 7 by GTG-banding and FISH in a patient with Shwachman-Diamond syndrome or acute myelogenous leukemia
    • Sokolic RA, Ferguson W, Hong Fong LM. 1999. Discordant detection of monosomy 7 by GTG-banding and FISH in a patient with Shwachman-Diamond syndrome or acute myelogenous leukemia. Cancer Genet Cytogenet 115:106-113.
    • (1999) Cancer Genet Cytogenet , vol.115 , pp. 106-113
    • Sokolic, R.A.1    Ferguson, W.2    Hong Fong, L.M.3
  • 28
    • 0035900926 scopus 로고    scopus 로고
    • Public health burden of cancer in ataxia-telangiectasia heterozygotes
    • Swift M. 2001. Public health burden of cancer in ataxia-telangiectasia heterozygotes. J Natl Cancer Inst 93:84-85.
    • (2001) J Natl Cancer Inst , vol.93 , pp. 84-85
    • Swift, M.1
  • 30
    • 0036229263 scopus 로고    scopus 로고
    • Abnormal telomere shortening in leucocytes of children with Shwachman-Diamond syndrome
    • Thornley I, Dror Y, Sung L, Wynn RF, Freedman MH. 2002. Abnormal telomere shortening in leucocytes of children with Shwachman-Diamond syndrome. Br J Haematol 117:189-192.
    • (2002) Br J Haematol , vol.117 , pp. 189-192
    • Thornley, I.1    Dror, Y.2    Sung, L.3    Wynn, R.F.4    Freedman, M.H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.