메뉴 건너뛰기




Volumn 29, Issue 3, 2007, Pages 163-165

Monitoring the isochromosome i(7)(q10) in the bone marrow of patients with shwachman syndrome by real-time quantitative PCR

Author keywords

i(7)(q10); Real time quantitative PCR; Shwachman syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BONE MARROW; BONE MARROW CELL; CASE REPORT; CHROMOSOME 7; CHROMOSOME ANALYSIS; COMPARATIVE STUDY; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENE MAPPING; GENETIC POLYMORPHISM; HETEROZYGOSITY; HUMAN; ISOCHROMOSOME; MALE; MONITORING; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SHWACHMAN SYNDROME;

EID: 34247552365     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e31803b958e     Document Type: Article
Times cited : (4)

References (14)
  • 1
    • 0035071609 scopus 로고    scopus 로고
    • Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7
    • Goobie S, Popovic M, Morrison J, et al. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am J Hum Genet. 2001;68:1048-1054.
    • (2001) Am J Hum Genet , vol.68 , pp. 1048-1054
    • Goobie, S.1    Popovic, M.2    Morrison, J.3
  • 2
    • 0037229094 scopus 로고    scopus 로고
    • Mutations in SBDS are associated with Shwachman-Diamond syndrome
    • Boocock GRB, Morrison JA, Popovic M, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003;33:97-101.
    • (2003) Nat Genet , vol.33 , pp. 97-101
    • Boocock, G.R.B.1    Morrison, J.A.2    Popovic, M.3
  • 3
    • 9444291841 scopus 로고    scopus 로고
    • Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome
    • Woloszynek JR, Rothbaum RJ, Rawls AS, et al. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. Blood. 2004;104:3588-3590.
    • (2004) Blood , vol.104 , pp. 3588-3590
    • Woloszynek, J.R.1    Rothbaum, R.J.2    Rawls, A.S.3
  • 5
    • 0036042153 scopus 로고    scopus 로고
    • Shwachman-Diamond syndrome
    • Dror Y, Freeedman MH. Shwachman-Diamond syndrome. Br J Haematol. 2002;118:701-707.
    • (2002) Br J Haematol , vol.118 , pp. 701-707
    • Dror, Y.1    Freeedman, M.H.2
  • 6
    • 0036325553 scopus 로고    scopus 로고
    • Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: A prospective 5-year follow-up study
    • Dror Y, Durie P, Ginzberg H, et al. Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study. Exp Hematol. 2002;30:659-669.
    • (2002) Exp Hematol , vol.30 , pp. 659-669
    • Dror, Y.1    Durie, P.2    Ginzberg, H.3
  • 8
    • 33644755462 scopus 로고    scopus 로고
    • Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies
    • Maserati E, Minelli A, Pressato B, et al. Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. Genes Chromosomes Cancer. 2006;45:375-382.
    • (2006) Genes Chromosomes Cancer , vol.45 , pp. 375-382
    • Maserati, E.1    Minelli, A.2    Pressato, B.3
  • 9
    • 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, et al. SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation? Cancer Genet Cytogenet. 2004;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
  • 10
    • 32944459632 scopus 로고    scopus 로고
    • Haematopoietic stem cell transplantation for Shwachman-Diamond disease: A study from the European Group for blood and marrow transplantation
    • Cesaro S, Oneto R, Messina C, et al. Haematopoietic stem cell transplantation for Shwachman-Diamond disease: a study from the European Group for blood and marrow transplantation. Br J Haematol. 2005;131:231-236.
    • (2005) Br J Haematol , vol.131 , pp. 231-236
    • Cesaro, S.1    Oneto, R.2    Messina, C.3
  • 11
    • 33744532891 scopus 로고    scopus 로고
    • Establishment and study of different real-time PCR assays for the quantification of cells with deletions of chromosome 7
    • Mattarucchi E, Marsoni M, Passi A, et al. Establishment and study of different real-time PCR assays for the quantification of cells with deletions of chromosome 7. J Mol Diagn. 2006;8:218-224.
    • (2006) J Mol Diagn , vol.8 , pp. 218-224
    • Mattarucchi, E.1    Marsoni, M.2    Passi, A.3
  • 14
    • 33744827681 scopus 로고    scopus 로고
    • Shwachman-Diamond syndrome: UK perspective
    • Hall GW, Dale P, Dodge JA. Shwachman-Diamond syndrome: UK perspective. Arch Dis Child. 2006;91:521-524.
    • (2006) Arch Dis Child , vol.91 , pp. 521-524
    • Hall, G.W.1    Dale, P.2    Dodge, J.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.