메뉴 건너뛰기




Volumn 29, Issue 3, 2011, Pages 392-399

Clinical characteristics of patients with Fanconi anemia;Características clínicas de pacientes com anemia de fanconi

Author keywords

Caf au lait spots; Congenital; Esophagus; Fanconi anemia; Pancytopenia; Upper extremity deformities

Indexed keywords

BUTADIENE DIEPOXIDE;

EID: 80054099312     PISSN: 01030582     EISSN: None     Source Type: Journal    
DOI: 10.1590/S0103-05822011000300014     Document Type: Article
Times cited : (7)

References (30)
  • 1
    • 80054096851 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man, OMIM (TM) [homepage on the Internet], Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine [cited 2010 Sept 5]
    • Online Mendelian Inheritance in Man, OMIM (TM) [homepage on the Internet]. Baltimore e Bethesda: BeMcKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine [cited 2010 Sept 5]. Available from: http://www.ncbi.nlm.nih.gov/omim/
    • Baltimore E Bethesda: BeMcKusick-Nathans Institute For Genetic Medicine
  • 3
    • 0035379611 scopus 로고    scopus 로고
    • The emerging genetic and molecular basis of Fanconi anaemia
    • Joenje H, Patel KJ. The emerging genetic and molecular basis of Fanconi anaemia. Nat Rev Genet 2001;2:446-57.
    • (2001) Nat Rev Genet , vol.2 , pp. 446-457
    • Joenje, H.1    Patel, K.J.2
  • 7
    • 33747376928 scopus 로고    scopus 로고
    • DNA repair pathways in clinical practice: Lessons from pediatric cancer susceptibility syndromes
    • Kennedy RD, D'Andrea AD. DNA repair pathways in clinical practice: lessons from pediatric cancer susceptibility syndromes. J Clin Oncol 2006;24:3799-808.
    • (2006) J Clin Oncol , vol.24 , pp. 3799-3808
    • Kennedy, R.D.1    D'andrea, A.D.2
  • 9
    • 80054121628 scopus 로고
    • Fanconi Anemia
    • Pagon RA, Bird TC, Dolan CR, Stephens K, editors, Seattle (WA): University of Washington
    • Taniguchi T. Fanconi Anemia. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews. Seattle (WA): University of Washington; 1993.
    • (1993) GeneReviews
    • Taniguchi, T.1
  • 13
    • 30644461058 scopus 로고    scopus 로고
    • Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia
    • Rodriguez DE, Lima CS, Lourenço GJ, Figueiredo ME, Carneiro JD, Tone LG et al. Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia. Genet Mol Biol 2005;28:205-9.
    • (2005) Genet Mol Biol , vol.28 , pp. 205-209
    • Rodriguez, D.E.1    Lima, C.S.2    Lourenço, G.J.3    Figueiredo, M.E.4    Carneiro, J.D.5    Tone, L.G.6
  • 15
    • 33847636730 scopus 로고    scopus 로고
    • Allogeneic hematopoietic stem cell transplantation from an alternative stem cell source in Fanconi anemia patients: Analysis of 47 patients from a single institution
    • Medeiros CR, Bitencourt MA, Zanis-Neto J, Maluf EC, Carvalho DS, Bonfim CS et al. Allogeneic hematopoietic stem cell transplantation from an alternative stem cell source in Fanconi anemia patients: analysis of 47 patients from a single institution. Braz J Med Biol Res 2006;39:1297-304.
    • (2006) Braz J Med Biol Res , vol.39 , pp. 1297-1304
    • Medeiros, C.R.1    Bitencourt, M.A.2    Zanis-Neto, J.3    Maluf, E.C.4    Carvalho, D.S.5    Bonfim, C.S.6
  • 16
    • 67650451108 scopus 로고    scopus 로고
    • Fanconi anemia and its diagnosis
    • Auerbach AD. Fanconi anemia and its diagnosis. Mutat Res 2009;668:4-10.
    • (2009) Mutat Res , vol.668 , pp. 4-10
    • Auerbach, A.D.1
  • 17
    • 0019413601 scopus 로고
    • New chromosome techniques in the study of human neoplasia
    • Yunis JJ. New chromosome techniques in the study of human neoplasia. Hum Pathol. 1981;12:540-9.
    • (1981) Hum Pathol , vol.12 , pp. 540-549
    • Yunis, J.J.1
  • 19
    • 67650500593 scopus 로고    scopus 로고
    • The genetic and molecular basis of Fanconi anemia
    • de Winter JP, Joenje H. The genetic and molecular basis of Fanconi anemia. Mutat Res 2009;668:11-9.
    • (2009) Mutat Res , vol.668 , pp. 11-19
    • de Winter, J.P.1    Joenje, H.2
  • 23
    • 76749158899 scopus 로고    scopus 로고
    • Clinical, genetic and cytogenetic study of Fanconi anemia in an Indian population
    • Korgaonkar S, Ghosh K, Vundinti BR. Clinical, genetic and cytogenetic study of Fanconi anemia in an Indian population. Hematology 2010; 15:58-62.
    • (2010) Hematology , vol.15 , pp. 58-62
    • Korgaonkar, S.1    Ghosh, K.2    Vundinti, B.R.3
  • 24
    • 75449084541 scopus 로고    scopus 로고
    • New aspects on chromosomal instability: Chromosomal break-points in Fanconi anemia patients co-localize on the molecular level with fragile sites
    • Schoder C, Liehr T, Velleuer E, Wilhelm K, Blaurock N, Weise A et al. New aspects on chromosomal instability: chromosomal break-points in Fanconi anemia patients co-localize on the molecular level with fragile sites. Int J Oncol 2010;36:307-12.
    • (2010) Int J Oncol , vol.36 , pp. 307-312
    • Schoder, C.1    Liehr, T.2    Velleuer, E.3    Wilhelm, K.4    Blaurock, N.5    Weise, A.6
  • 26
    • 67650403821 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in Fanconi anemia
    • Neveling K, Endt D, Hoehn H, Schindler D. Genotype-phenotype correlations in Fanconi anemia. Mutat Res 2009;668:73-91.
    • (2009) Mutat Res , vol.668 , pp. 73-91
    • Neveling, K.1    Endt, D.2    Hoehn, H.3    Schindler, D.4
  • 27
    • 0019365249 scopus 로고
    • Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method
    • Auerbach AD, Adler B, Chaganti RS. Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method. Pediatrics 1981;67:128-35.
    • (1981) Pediatrics , vol.67 , pp. 128-135
    • Auerbach, A.D.1    Adler, B.2    Chaganti, R.S.3
  • 28
    • 68949115965 scopus 로고    scopus 로고
    • Associated malformations in patients with esophageal atresia
    • Stoll C, Alembik Y, Dott B, Roth MP. Associated malformations in patients with esophageal atresia. Eur J Med Genet 2009;52:287-90.
    • (2009) Eur J Med Genet , vol.52 , pp. 287-290
    • Stoll, C.1    Alembik, Y.2    Dott, B.3    Roth, M.P.4
  • 29
    • 45749085809 scopus 로고    scopus 로고
    • Fanconi anemia: New strategies
    • Dufour C, Svahn J. Fanconi anemia: new strategies. Bone Marrow Transplant 2008;41 (Suppl 2):S90-5.
    • (2008) Bone Marrow Transplant , vol.41 , Issue.SUPPL. 2 , pp. 90-95
    • Dufour, C.1    Svahn, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.