메뉴 건너뛰기




Volumn 204, Issue 5, 2011, Pages 227-244

Pediatric leukemia predisposition syndromes: Clues to understanding leukemogenesis

Author keywords

Leukemia; Pediatric; Predisposition; Syndrome

Indexed keywords

CCAAT ENHANCER BINDING PROTEIN ALPHA; METHOTREXATE;

EID: 80051590706     PISSN: 22107762     EISSN: 22107770     Source Type: Journal    
DOI: 10.1016/j.cancergen.2011.04.005     Document Type: Review
Times cited : (70)

References (238)
  • 1
    • 34447564992 scopus 로고    scopus 로고
    • Mutation rate variation in multicellular eukaryotes: causes and consequences
    • Baer C.F., Miyamoto M.M., Denver D.R. Mutation rate variation in multicellular eukaryotes: causes and consequences. Nat Rev Genet 2007, 8:619-631.
    • (2007) Nat Rev Genet , vol.8 , pp. 619-631
    • Baer, C.F.1    Miyamoto, M.M.2    Denver, D.R.3
  • 2
    • 63249083031 scopus 로고    scopus 로고
    • Role of DNA repair in the protection against genotoxic stress
    • Camenisch U., Naegeli H. Role of DNA repair in the protection against genotoxic stress. EXS 2009, 99:111-150.
    • (2009) EXS , vol.99 , pp. 111-150
    • Camenisch, U.1    Naegeli, H.2
  • 3
    • 70449561537 scopus 로고    scopus 로고
    • DNA repair mechanisms in eukaryotes: special focus in Entamoeba histolytica and related protozoan parasites
    • Lopez-Camarillo C., Lopez-Casamichana M., Weber C., et al. DNA repair mechanisms in eukaryotes: special focus in Entamoeba histolytica and related protozoan parasites. Infect Genet Evol 2009, 9:1051-1056.
    • (2009) Infect Genet Evol , vol.9 , pp. 1051-1056
    • Lopez-Camarillo, C.1    Lopez-Casamichana, M.2    Weber, C.3
  • 4
    • 72149119542 scopus 로고    scopus 로고
    • How the fanconi anemia pathway guards the genome
    • Moldovan G.L., D'Andrea A.D. How the fanconi anemia pathway guards the genome. Annu Rev Genet 2009, 43:223-249.
    • (2009) Annu Rev Genet , vol.43 , pp. 223-249
    • Moldovan, G.L.1    D'Andrea, A.D.2
  • 5
    • 71749111299 scopus 로고    scopus 로고
    • Impaired DNA damage response-an Achilles' heel sensitizing cancer to chemotherapy and radiotherapy
    • Darzynkiewicz Z., Traganos F., Wlodkowic D. Impaired DNA damage response-an Achilles' heel sensitizing cancer to chemotherapy and radiotherapy. Eur J Pharmacol 2009, 625:143-150.
    • (2009) Eur J Pharmacol , vol.625 , pp. 143-150
    • Darzynkiewicz, Z.1    Traganos, F.2    Wlodkowic, D.3
  • 6
    • 70549114065 scopus 로고    scopus 로고
    • Cancer genesis across the age spectrum: associations with tissue development, maintenance, and senescence
    • Rubin P., Williams J.P., Devesa S.S., et al. Cancer genesis across the age spectrum: associations with tissue development, maintenance, and senescence. Semin Radiat Oncol 2010, 20:3-11.
    • (2010) Semin Radiat Oncol , vol.20 , pp. 3-11
    • Rubin, P.1    Williams, J.P.2    Devesa, S.S.3
  • 7
    • 40549106508 scopus 로고    scopus 로고
    • Diagnosis, genetics, and management of inherited bone marrow failure syndromes
    • Alter B.P. Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematology Am Soc Hematol Educ Program 2007, 29-39.
    • (2007) Hematology Am Soc Hematol Educ Program , pp. 29-39
    • Alter, B.P.1
  • 8
    • 77952600845 scopus 로고    scopus 로고
    • Susceptibility pathways in Fanconi's anemia and breast cancer
    • D'Andrea A.D. Susceptibility pathways in Fanconi's anemia and breast cancer. N Engl J Med 2010, 362:1909-1919.
    • (2010) N Engl J Med , vol.362 , pp. 1909-1919
    • D'Andrea, A.D.1
  • 9
    • 77952674566 scopus 로고    scopus 로고
    • Pathophysiology and management of inherited bone marrow failure syndromes
    • Shimamura A., Alter B.P. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Reviews 2010, 24:101-122.
    • (2010) Blood Reviews , vol.24 , pp. 101-122
    • Shimamura, A.1    Alter, B.P.2
  • 10
    • 0032528265 scopus 로고    scopus 로고
    • The concise handbook of family cancer syndromes. Mayo Familial Cancer Program
    • Lindor N.M., Greene M.H. The concise handbook of family cancer syndromes. Mayo Familial Cancer Program. J Natl Cancer Inst 1998, 90:1039-1071.
    • (1998) J Natl Cancer Inst , vol.90 , pp. 1039-1071
    • Lindor, N.M.1    Greene, M.H.2
  • 11
    • 0037441757 scopus 로고    scopus 로고
    • A 20-year perspective on the International Fanconi Anemia Registry (IFAR)
    • Kutler D.I., Singh B., Satagopan J., et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood 2003, 101:1249-1256.
    • (2003) Blood , vol.101 , pp. 1249-1256
    • Kutler, D.I.1    Singh, B.2    Satagopan, J.3
  • 12
    • 0029861118 scopus 로고    scopus 로고
    • Fanconi's anemia and malignancies
    • Alter B.P. Fanconi's anemia and malignancies. Am J Hematol 1996, 53:99-110.
    • (1996) Am J Hematol , vol.53 , pp. 99-110
    • Alter, B.P.1
  • 14
    • 42149116279 scopus 로고    scopus 로고
    • Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry
    • Rosenberg P.S., Alter B.P., Ebell W. Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. Haematologica 2008, 93:511-517.
    • (2008) Haematologica , vol.93 , pp. 511-517
    • Rosenberg, P.S.1    Alter, B.P.2    Ebell, W.3
  • 15
    • 0024364755 scopus 로고
    • Unsuspected Fanconi's anemia and bone marrow transplantation in cases of acute myelomonocytic leukemia
    • Gyger M., Perreault C., Belanger R., et al. Unsuspected Fanconi's anemia and bone marrow transplantation in cases of acute myelomonocytic leukemia. N Engl J Med 1989, 321:120-121.
    • (1989) N Engl J Med , vol.321 , pp. 120-121
    • Gyger, M.1    Perreault, C.2    Belanger, R.3
  • 16
    • 77951747926 scopus 로고    scopus 로고
    • Mutation of the RAD51C gene in a Fanconi anemia-like disorder
    • Vaz F., Hanenberg H., Schuster B., et al. Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet 2010, 42:406-409.
    • (2010) Nat Genet , vol.42 , pp. 406-409
    • Vaz, F.1    Hanenberg, H.2    Schuster, B.3
  • 17
    • 79251632658 scopus 로고    scopus 로고
    • SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype
    • Stoepker C., Hain K., Schuster B., et al. SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. Nat Genet 2011, 43:138-141.
    • (2011) Nat Genet , vol.43 , pp. 138-141
    • Stoepker, C.1    Hain, K.2    Schuster, B.3
  • 18
    • 33846415079 scopus 로고    scopus 로고
    • Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
    • Alter B.P., Rosenberg P.S., Brody L.C. Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. Journal of Medical Genetics 2007, 44:1-9.
    • (2007) Journal of Medical Genetics , vol.44 , pp. 1-9
    • Alter, B.P.1    Rosenberg, P.S.2    Brody, L.C.3
  • 19
    • 1642315917 scopus 로고    scopus 로고
    • Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood
    • Hirsch B., Shimamura A., Moreau L., et al. Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. Blood 2004, 103:2554-2559.
    • (2004) Blood , vol.103 , pp. 2554-2559
    • Hirsch, B.1    Shimamura, A.2    Moreau, L.3
  • 20
    • 67650403821 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in Fanconi anemia
    • Neveling K., Endt D., Hoehn H., et al. 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
  • 21
    • 23044466578 scopus 로고    scopus 로고
    • Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism
    • Alter B.P., Joenje H., Oostra A.B., et al. Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism. Arch Otolaryngol Head Neck Surg 2005, 131:635-639.
    • (2005) Arch Otolaryngol Head Neck Surg , vol.131 , pp. 635-639
    • Alter, B.P.1    Joenje, H.2    Oostra, A.B.3
  • 22
    • 0038361336 scopus 로고    scopus 로고
    • Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction
    • Gross M., Hanenberg H., Lobitz S., et al. Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction. Cytogenet Genome Res 2002, 98:126-135.
    • (2002) Cytogenet Genome Res , vol.98 , pp. 126-135
    • Gross, M.1    Hanenberg, H.2    Lobitz, S.3
  • 23
    • 12644293813 scopus 로고    scopus 로고
    • Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance
    • Lo Ten Foe J.R., Kwee M.L., Rooimans M.A., et al. Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur J Hum Genet 1997, 5:137-148.
    • (1997) Eur J Hum Genet , vol.5 , pp. 137-148
    • Lo Ten Foe, J.R.1    Kwee, M.L.2    Rooimans, M.A.3
  • 24
    • 0032796554 scopus 로고    scopus 로고
    • Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism
    • Waisfisz Q., Morgan N.V., Savino M., et al. Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. Nat Genet 1999, 22:379-383.
    • (1999) Nat Genet , vol.22 , pp. 379-383
    • Waisfisz, Q.1    Morgan, N.V.2    Savino, M.3
  • 26
    • 34248198839 scopus 로고    scopus 로고
    • Chemotherapy for myeloid malignancy in children with Fanconi anemia
    • Mehta P.A., Ileri T., Harris R.E., et al. Chemotherapy for myeloid malignancy in children with Fanconi anemia. Pediatr Blood Cancer 2007, 48:668-672.
    • (2007) Pediatr Blood Cancer , vol.48 , pp. 668-672
    • Mehta, P.A.1    Ileri, T.2    Harris, R.E.3
  • 27
    • 59349117687 scopus 로고    scopus 로고
    • Hematopoietic stem cell transplantation for bone marrow failure syndromes in children
    • Myers K.C., Davies S.M. Hematopoietic stem cell transplantation for bone marrow failure syndromes in children. Biol Blood Marrow Transplant 2009, 15:279-292.
    • (2009) Biol Blood Marrow Transplant , vol.15 , pp. 279-292
    • Myers, K.C.1    Davies, S.M.2
  • 28
    • 33645315485 scopus 로고    scopus 로고
    • Successful engraftment without radiation after fludarabine-based regimen in Fanconi anemia patients undergoing genotypically identical donor hematopoietic cell transplantation
    • Tan P.L., Wagner J.E., Auerbach A.D., et al. Successful engraftment without radiation after fludarabine-based regimen in Fanconi anemia patients undergoing genotypically identical donor hematopoietic cell transplantation. Pediatr Blood Cancer 2006, 46:630-636.
    • (2006) Pediatr Blood Cancer , vol.46 , pp. 630-636
    • Tan, P.L.1    Wagner, J.E.2    Auerbach, A.D.3
  • 29
    • 0742271986 scopus 로고    scopus 로고
    • Allogeneic stem cell transplantation in patients with Fanconi's anemia and myelodysplasia or leukemia utilizing low-dose cyclophosphamide and total body irradiation
    • Ayas M., Al-Jefri A., Al-Mahr M., et al. Allogeneic stem cell transplantation in patients with Fanconi's anemia and myelodysplasia or leukemia utilizing low-dose cyclophosphamide and total body irradiation. Bone Marrow Transplant 2004, 33:15-17.
    • (2004) Bone Marrow Transplant , vol.33 , pp. 15-17
    • Ayas, M.1    Al-Jefri, A.2    Al-Mahr, M.3
  • 30
    • 39749121663 scopus 로고    scopus 로고
    • Fludarabine-based cytoreductive regimen and T-cell-depleted grafts from alternative donors for the treatment of high-risk patients with Fanconi anaemia
    • Chaudhury S., Auerbach A.D., Kernan N.A., et al. Fludarabine-based cytoreductive regimen and T-cell-depleted grafts from alternative donors for the treatment of high-risk patients with Fanconi anaemia. Br J Haematol 2008, 140:644-655.
    • (2008) Br J Haematol , vol.140 , pp. 644-655
    • Chaudhury, S.1    Auerbach, A.D.2    Kernan, N.A.3
  • 31
    • 33845993292 scopus 로고    scopus 로고
    • Stem cell collection and gene transfer in Fanconi anemia
    • Kelly P.F., Radtke S., von Kalle C., et al. Stem cell collection and gene transfer in Fanconi anemia. Mol Ther 2007, 15:211-219.
    • (2007) Mol Ther , vol.15 , pp. 211-219
    • Kelly, P.F.1    Radtke, S.2    von Kalle, C.3
  • 32
    • 3242876404 scopus 로고    scopus 로고
    • Ataxia-telangiectasia, an evolving phenotype
    • Chun H.H., Gatti R.A. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst) 2004, 3:1187-1196.
    • (2004) DNA Repair (Amst) , vol.3 , pp. 1187-1196
    • Chun, H.H.1    Gatti, R.A.2
  • 33
    • 33645072212 scopus 로고    scopus 로고
    • ATM-dependent DNA damage surveillance in T-cell development and leukemogenesis: the DSB connection
    • Matei I.R., Guidos C.J., Danska J.S. ATM-dependent DNA damage surveillance in T-cell development and leukemogenesis: the DSB connection. Immunol Rev 2006, 209:142-158.
    • (2006) Immunol Rev , vol.209 , pp. 142-158
    • Matei, I.R.1    Guidos, C.J.2    Danska, J.S.3
  • 34
    • 84870650952 scopus 로고
    • Ataxia-telangiectasia. GeneReviews, Available at: . Accessed on April 13, 2011.
    • Gatti R. Ataxia-telangiectasia. GeneReviews, 1993-. Available at: . Accessed on April 13, 2011. http://www.ncbi.nlm.nih.gov/books/NBK26468/.
    • (1993)
    • Gatti, R.1
  • 35
  • 36
    • 0022472723 scopus 로고
    • Mortality and cancer incidence in 263 patients with ataxia-telangiectasia
    • Morrell D., Cromartie E., Swift M. Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. J Natl Cancer Inst 1986, 77:89-92.
    • (1986) J Natl Cancer Inst , vol.77 , pp. 89-92
    • Morrell, D.1    Cromartie, E.2    Swift, M.3
  • 37
    • 0035900911 scopus 로고    scopus 로고
    • Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries
    • Olsen J.H., Hahnemann J.M., Borresen-Dale A.L., et al. Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries. J Natl Cancer Inst 2001, 93:121-127.
    • (2001) J Natl Cancer Inst , vol.93 , pp. 121-127
    • Olsen, J.H.1    Hahnemann, J.M.2    Borresen-Dale, A.L.3
  • 38
    • 0030051855 scopus 로고    scopus 로고
    • Leukemia and lymphoma in ataxia telangiectasia
    • Taylor A.M., Metcalfe J.A., Thick J., et al. Leukemia and lymphoma in ataxia telangiectasia. Blood 1996, 87:423-438.
    • (1996) Blood , vol.87 , pp. 423-438
    • Taylor, A.M.1    Metcalfe, J.A.2    Thick, J.3
  • 39
    • 32544445872 scopus 로고    scopus 로고
    • Acute lymphoblastic leukemia in children with associated genetic conditions other than Down's syndrome. The AIEOP experience
    • Ziino O., Rondelli R., Micalizzi C., et al. Acute lymphoblastic leukemia in children with associated genetic conditions other than Down's syndrome. The AIEOP experience. Haematologica 2006, 91:139-140.
    • (2006) Haematologica , vol.91 , pp. 139-140
    • Ziino, O.1    Rondelli, R.2    Micalizzi, C.3
  • 40
    • 30144442065 scopus 로고    scopus 로고
    • ATM promoter analysis in childhood lymphoid malignancies: a brief communication
    • Gumy-Pause F., Wacker P., Maillet P., et al. ATM promoter analysis in childhood lymphoid malignancies: a brief communication. Leuk Res 2006, 30:335-337.
    • (2006) Leuk Res , vol.30 , pp. 335-337
    • Gumy-Pause, F.1    Wacker, P.2    Maillet, P.3
  • 41
    • 0032916269 scopus 로고    scopus 로고
    • Malignancies in pediatric patients with ataxia telangiectasia
    • Murphy R.C., Berdon W.E., Ruzal-Shapiro C., et al. Malignancies in pediatric patients with ataxia telangiectasia. Pediatr Radiol 1999, 29:225-230.
    • (1999) Pediatr Radiol , vol.29 , pp. 225-230
    • Murphy, R.C.1    Berdon, W.E.2    Ruzal-Shapiro, C.3
  • 42
    • 77952484840 scopus 로고    scopus 로고
    • Child with ataxia telangiectasia developing acute myeloid leukemia
    • Lin C.H., Lin W.C., Wang C.H., et al. Child with ataxia telangiectasia developing acute myeloid leukemia. J Clin Oncol 2010, 28:e213-e214.
    • (2010) J Clin Oncol , vol.28
    • Lin, C.H.1    Lin, W.C.2    Wang, C.H.3
  • 43
    • 0034778106 scopus 로고    scopus 로고
    • Acute myeloid leukemia in a patient with ataxia-telangiectasia: a case report and review of the literature
    • Viniou N., Terpos E., Rombos J., et al. Acute myeloid leukemia in a patient with ataxia-telangiectasia: a case report and review of the literature. Leukemia 2001, 15:1668-1670.
    • (2001) Leukemia , vol.15 , pp. 1668-1670
    • Viniou, N.1    Terpos, E.2    Rombos, J.3
  • 44
    • 52449114574 scopus 로고    scopus 로고
    • Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer
    • Lavin M.F. Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer. Nat Rev Mol Cell Biol 2008, 9:759-769.
    • (2008) Nat Rev Mol Cell Biol , vol.9 , pp. 759-769
    • Lavin, M.F.1
  • 45
    • 38349087547 scopus 로고    scopus 로고
    • ATM kinase activity modulates Fas sensitivity through the regulation of FLIP in lymphoid cells
    • Stagni V., di Bari M.G., Cursi S., et al. ATM kinase activity modulates Fas sensitivity through the regulation of FLIP in lymphoid cells. Blood 2008, 111:829-837.
    • (2008) Blood , vol.111 , pp. 829-837
    • Stagni, V.1    di Bari, M.G.2    Cursi, S.3
  • 46
    • 18244384760 scopus 로고    scopus 로고
    • Expression of TCL1 in hematologic disorders
    • Roos J., Hennig I., Schwaller J., et al. Expression of TCL1 in hematologic disorders. Pathobiology 2001, 69:59-66.
    • (2001) Pathobiology , vol.69 , pp. 59-66
    • Roos, J.1    Hennig, I.2    Schwaller, J.3
  • 47
    • 35148886851 scopus 로고    scopus 로고
    • Alpha fetoprotein is increasing with age in ataxia-telangiectasia
    • Stray-Pedersen A., Borresen-Dale A.L., Paus E., et al. Alpha fetoprotein is increasing with age in ataxia-telangiectasia. Eur J Paediatr Neurol 2007, 11:375-380.
    • (2007) Eur J Paediatr Neurol , vol.11 , pp. 375-380
    • Stray-Pedersen, A.1    Borresen-Dale, A.L.2    Paus, E.3
  • 48
    • 38449117827 scopus 로고    scopus 로고
    • Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia
    • Lavin M.F., Gueven N., Bottle S., et al. Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia. Br Med Bull 2007, 81-82:129-147.
    • (2007) Br Med Bull , pp. 129-147
    • Lavin, M.F.1    Gueven, N.2    Bottle, S.3
  • 49
    • 0036085557 scopus 로고    scopus 로고
    • Early diagnosis of ataxia-telangiectasia using radiosensitivity testing
    • Sun X., Becker-Catania S.G., Chun H.H., et al. Early diagnosis of ataxia-telangiectasia using radiosensitivity testing. J Pediatr 2002, 140:724-731.
    • (2002) J Pediatr , vol.140 , pp. 724-731
    • Sun, X.1    Becker-Catania, S.G.2    Chun, H.H.3
  • 50
    • 60149094025 scopus 로고    scopus 로고
    • Rapid diagnosis of ataxia-telangiectasia by flow cytometric monitoring of DNA damage-dependent ATM phosphorylation
    • Honda M., Takagi M., Chessa L., et al. Rapid diagnosis of ataxia-telangiectasia by flow cytometric monitoring of DNA damage-dependent ATM phosphorylation. Leukemia 2009, 23:409-414.
    • (2009) Leukemia , vol.23 , pp. 409-414
    • Honda, M.1    Takagi, M.2    Chessa, L.3
  • 51
    • 62149091065 scopus 로고    scopus 로고
    • Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes
    • Nahas S.A., Butch A.W., Du L., et al. Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes. Clin Chem 2009, 55:463-472.
    • (2009) Clin Chem , vol.55 , pp. 463-472
    • Nahas, S.A.1    Butch, A.W.2    Du, L.3
  • 52
    • 44949093617 scopus 로고    scopus 로고
    • A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia
    • Porcedda P., Turinetto V., Brusco A., et al. A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia. Cytometry A 2008, 73:508-516.
    • (2008) Cytometry A , vol.73 , pp. 508-516
    • Porcedda, P.1    Turinetto, V.2    Brusco, A.3
  • 53
    • 0018860064 scopus 로고
    • Ataxia-telangiectasia and acute lymphoblastic leukemia
    • Toledano S.R., Lange B.J. Ataxia-telangiectasia and acute lymphoblastic leukemia. Cancer 1980, 45:1675-1678.
    • (1980) Cancer , vol.45 , pp. 1675-1678
    • Toledano, S.R.1    Lange, B.J.2
  • 54
    • 0036156227 scopus 로고    scopus 로고
    • Severe lung fibrosis after chemotherapy in a child with ataxia-telangiectasia
    • Chen R.L., Wang P.J., Hsu Y.H., et al. Severe lung fibrosis after chemotherapy in a child with ataxia-telangiectasia. J Pediatr Hematol Oncol 2002, 24:77-79.
    • (2002) J Pediatr Hematol Oncol , vol.24 , pp. 77-79
    • Chen, R.L.1    Wang, P.J.2    Hsu, Y.H.3
  • 55
    • 0031729512 scopus 로고    scopus 로고
    • Treatment of lymphoid malignancies in patients with ataxia-telangiectasia
    • Sandoval C., Swift M. Treatment of lymphoid malignancies in patients with ataxia-telangiectasia. Med Pediatr Oncol 1998, 31:491-497.
    • (1998) Med Pediatr Oncol , vol.31 , pp. 491-497
    • Sandoval, C.1    Swift, M.2
  • 56
    • 0023733951 scopus 로고
    • Leukoencephalopathy after prophylactic radiation for leukaemia in ataxia telangiectasia
    • Eyre J.A., Gardner-Medwin D., Summerfield G.P. Leukoencephalopathy after prophylactic radiation for leukaemia in ataxia telangiectasia. Arch Dis Child 1988, 63:1079-1080.
    • (1988) Arch Dis Child , vol.63 , pp. 1079-1080
    • Eyre, J.A.1    Gardner-Medwin, D.2    Summerfield, G.P.3
  • 57
    • 68349122462 scopus 로고    scopus 로고
    • Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment
    • Yanofsky R.A., Seshia S.S., Dawson A.J., et al. Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment. Can J Neurol Sci 2009, 36:462-467.
    • (2009) Can J Neurol Sci , vol.36 , pp. 462-467
    • Yanofsky, R.A.1    Seshia, S.S.2    Dawson, A.J.3
  • 58
    • 0033994079 scopus 로고    scopus 로고
    • Non-Hodgkin's lymphoma in pediatric patients with chromosomal breakage syndromes (AT and NBS): experience from the BFM trials
    • Seidemann K., Henze G., Beck J.D., et al. Non-Hodgkin's lymphoma in pediatric patients with chromosomal breakage syndromes (AT and NBS): experience from the BFM trials. Ann Oncol 2000, 11(Suppl 1):141-145.
    • (2000) Ann Oncol , vol.11 , Issue.SUPPL. 1 , pp. 141-145
    • Seidemann, K.1    Henze, G.2    Beck, J.D.3
  • 59
    • 31844434470 scopus 로고    scopus 로고
    • Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies
    • Chrzanowska K.H., Piekutowska-Abramczuk D., Popowska E., et al. Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies. Int J Cancer 2006, 118:1269-1274.
    • (2006) Int J Cancer , vol.118 , pp. 1269-1274
    • Chrzanowska, K.H.1    Piekutowska-Abramczuk, D.2    Popowska, E.3
  • 60
    • 0032076190 scopus 로고    scopus 로고
    • Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
    • Varon R., Vissinga C., Platzer M., et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 1998, 93:467-476.
    • (1998) Cell , vol.93 , pp. 467-476
    • Varon, R.1    Vissinga, C.2    Platzer, M.3
  • 61
    • 0036215992 scopus 로고    scopus 로고
    • Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families
    • Resnick I.B., Kondratenko I., Togoev O., et al. Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families. J Pediatr 2002, 140:355-361.
    • (2002) J Pediatr , vol.140 , pp. 355-361
    • Resnick, I.B.1    Kondratenko, I.2    Togoev, O.3
  • 62
    • 0000770165 scopus 로고    scopus 로고
    • Nijmegen breakage syndrome
    • The International Nijmegen Breakage Syndrome Study Group
    • Nijmegen breakage syndrome. Arch Dis Child 2000, 82:400-406. The International Nijmegen Breakage Syndrome Study Group.
    • (2000) Arch Dis Child , vol.82 , pp. 400-406
  • 63
    • 3242892589 scopus 로고    scopus 로고
    • Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks
    • Digweed M., Sperling K. Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. DNA Repair (Amst) 2004, 3:1207-1217.
    • (2004) DNA Repair (Amst) , vol.3 , pp. 1207-1217
    • Digweed, M.1    Sperling, K.2
  • 64
    • 55249115136 scopus 로고    scopus 로고
    • Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation
    • Gladkowska-Dura M., Dzierzanowska-Fangrat K., Dura W.T., et al. Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation. J Pathol 2008, 216:337-344.
    • (2008) J Pathol , vol.216 , pp. 337-344
    • Gladkowska-Dura, M.1    Dzierzanowska-Fangrat, K.2    Dura, W.T.3
  • 65
    • 0028017698 scopus 로고
    • Postmortem findings in the Nijmegen breakage syndrome
    • Van de Kaa C.A., Weemaes C.M., Wesseling P., et al. Postmortem findings in the Nijmegen breakage syndrome. Pediatr Pathol 1994, 14:787-796.
    • (1994) Pediatr Pathol , vol.14 , pp. 787-796
    • Van de Kaa, C.A.1    Weemaes, C.M.2    Wesseling, P.3
  • 66
    • 36949021811 scopus 로고    scopus 로고
    • The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome
    • Demuth I., Digweed M. The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome. Oncogene 2007, 26:7792-7798.
    • (2007) Oncogene , vol.26 , pp. 7792-7798
    • Demuth, I.1    Digweed, M.2
  • 67
    • 0035328489 scopus 로고    scopus 로고
    • Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL)
    • Varon R., Reis A., Henze G., et al. Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer Res 2001, 61:3570-3572.
    • (2001) Cancer Res , vol.61 , pp. 3570-3572
    • Varon, R.1    Reis, A.2    Henze, G.3
  • 68
    • 45749123993 scopus 로고    scopus 로고
    • NBS1 Heterozygosity and Cancer Risk
    • di Masi A., Antoccia A. NBS1 Heterozygosity and Cancer Risk. Curr Genomics 2008, 9:275-281.
    • (2008) Curr Genomics , vol.9 , pp. 275-281
    • di Masi, A.1    Antoccia, A.2
  • 69
    • 63449084054 scopus 로고    scopus 로고
    • MRN complex function in the repair of chromosomal Rag-mediated DNA double-strand breaks
    • Helmink B.A., Bredemeyer A.L., Lee B.S., et al. MRN complex function in the repair of chromosomal Rag-mediated DNA double-strand breaks. J Exp Med 2009, 206:669-679.
    • (2009) J Exp Med , vol.206 , pp. 669-679
    • Helmink, B.A.1    Bredemeyer, A.L.2    Lee, B.S.3
  • 70
    • 77954731256 scopus 로고    scopus 로고
    • Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients
    • van der Burg M., Pac M., Berkowska M.A., et al. Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients. Blood 2010, 115:4770-4777.
    • (2010) Blood , vol.115 , pp. 4770-4777
    • van der Burg, M.1    Pac, M.2    Berkowska, M.A.3
  • 71
    • 31144471460 scopus 로고    scopus 로고
    • The role of NBS1 in DNA double strand break repair, telomere stability, and cell cycle checkpoint control
    • Zhang Y., Zhou J., Lim C.U. The role of NBS1 in DNA double strand break repair, telomere stability, and cell cycle checkpoint control. Cell Res 2006, 16:45-54.
    • (2006) Cell Res , vol.16 , pp. 45-54
    • Zhang, Y.1    Zhou, J.2    Lim, C.U.3
  • 72
    • 84870628831 scopus 로고    scopus 로고
    • Nijmegen breakage syndrome. GeneReviews, Available at: . Accessed on March 20, 2011.
    • Concannon PJ, Gatti RA. Nijmegen breakage syndrome. GeneReviews, 1999-. Available at: . Accessed on March 20, 2011. http://www.ncbi.nlm.nih.gov/books/NBK1176/.
    • (1999)
    • Concannon, P.J.1    Gatti, R.A.2
  • 74
    • 59449104796 scopus 로고    scopus 로고
    • Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS)
    • Dembowska-Baginska B., Perek D., Brozyna A., et al. Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). Pediatr Blood Cancer 2009, 52:186-190.
    • (2009) Pediatr Blood Cancer , vol.52 , pp. 186-190
    • Dembowska-Baginska, B.1    Perek, D.2    Brozyna, A.3
  • 76
    • 56449090762 scopus 로고    scopus 로고
    • Rising from the RecQ-age: the role of human RecQ helicases in genome maintenance
    • Bohr V.A. Rising from the RecQ-age: the role of human RecQ helicases in genome maintenance. Trends Biochem Sci 2008, 33:609-620.
    • (2008) Trends Biochem Sci , vol.33 , pp. 609-620
    • Bohr, V.A.1
  • 77
    • 0027331383 scopus 로고
    • Bloom syndrome: a mendelian prototype of somatic mutational disease
    • German J. Bloom syndrome: a mendelian prototype of somatic mutational disease. Medicine (Baltimore) 1993, 72:393-406.
    • (1993) Medicine (Baltimore) , vol.72 , pp. 393-406
    • German, J.1
  • 78
    • 0031052108 scopus 로고    scopus 로고
    • Bloom's syndrome. XX. The first 100 cancers
    • German J. Bloom's syndrome. XX. The first 100 cancers. Cancer Genet Cytogenet 1997, 93:100-106.
    • (1997) Cancer Genet Cytogenet , vol.93 , pp. 100-106
    • German, J.1
  • 79
    • 0016691790 scopus 로고
    • Abnormal immune responses of Bloom's syndrome lymphocytes in vitro
    • Hutteroth T.H., Litwin S.D., German J. Abnormal immune responses of Bloom's syndrome lymphocytes in vitro. J Clin Invest 1975, 56:1-7.
    • (1975) J Clin Invest , vol.56 , pp. 1-7
    • Hutteroth, T.H.1    Litwin, S.D.2    German, J.3
  • 80
    • 0035172463 scopus 로고    scopus 로고
    • Bloom syndrome in sibs: first reports of hepatocellular carcinoma and Wilms tumor with documented anaplasia and nephrogenic rests
    • Jain D., Hui P., McNamara J., et al. Bloom syndrome in sibs: first reports of hepatocellular carcinoma and Wilms tumor with documented anaplasia and nephrogenic rests. Pediatr Dev Pathol 2001, 4:585-589.
    • (2001) Pediatr Dev Pathol , vol.4 , pp. 585-589
    • Jain, D.1    Hui, P.2    McNamara, J.3
  • 81
    • 84870628771 scopus 로고
    • Bloom's syndrome. GeneReviews, Available at: . Accessed on March 12, 2011.
    • Sanz MM, German J. Bloom's syndrome. GeneReviews, 1993-. Available at: . Accessed on March 12, 2011. http://www.ncbi.nlm.nih.gov/books/NBK1398.
    • (1993)
    • Sanz, M.M.1    German, J.2
  • 82
    • 34247562576 scopus 로고    scopus 로고
    • Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry
    • German J., Sanz M.M., Ciocci S., et al. Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. Hum Mutat 2007, 28:743-753.
    • (2007) Hum Mutat , vol.28 , pp. 743-753
    • German, J.1    Sanz, M.M.2    Ciocci, S.3
  • 83
    • 0034203273 scopus 로고    scopus 로고
    • Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome
    • Barakat A., Ababou M., Onclercq R., et al. Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome. Hum Mutat 2000, 15:584-585.
    • (2000) Hum Mutat , vol.15 , pp. 584-585
    • Barakat, A.1    Ababou, M.2    Onclercq, R.3
  • 84
    • 0034713244 scopus 로고    scopus 로고
    • Cell cycle regulation of the endogenous wild type Bloom's syndrome DNA helicase
    • Dutertre S., Ababou M., Onclercq R., et al. Cell cycle regulation of the endogenous wild type Bloom's syndrome DNA helicase. Oncogene 2000, 19:2731-2738.
    • (2000) Oncogene , vol.19 , pp. 2731-2738
    • Dutertre, S.1    Ababou, M.2    Onclercq, R.3
  • 85
    • 0035396754 scopus 로고    scopus 로고
    • Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies
    • Poppe B., Van Limbergen H., Van Roy N., et al. Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies. Cancer Genet Cytogenet 2001, 128:39-42.
    • (2001) Cancer Genet Cytogenet , vol.128 , pp. 39-42
    • Poppe, B.1    Van Limbergen, H.2    Van Roy, N.3
  • 86
    • 0344953576 scopus 로고    scopus 로고
    • Heterozygosity for the BLM(Ash) mutation and cancer risk
    • Cleary S.P., Zhang W., Di Nicola N., et al. Heterozygosity for the BLM(Ash) mutation and cancer risk. Cancer Res 2003, 63:1769-1771.
    • (2003) Cancer Res , vol.63 , pp. 1769-1771
    • Cleary, S.P.1    Zhang, W.2    Di Nicola, N.3
  • 87
    • 66449137568 scopus 로고    scopus 로고
    • Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study
    • Broberg K., Huynh E., Schlawicke Engstrom K., et al. Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study. BMC Cancer 2009, 9:140.
    • (2009) BMC Cancer , vol.9 , pp. 140
    • Broberg, K.1    Huynh, E.2    Schlawicke Engstrom, K.3
  • 88
    • 0030201106 scopus 로고    scopus 로고
    • Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1
    • Straughen J., Ciocci S., Ye T.Z., et al. Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1. Genomics 1996, 35:118-128.
    • (1996) Genomics , vol.35 , pp. 118-128
    • Straughen, J.1    Ciocci, S.2    Ye, T.Z.3
  • 89
    • 34249946979 scopus 로고    scopus 로고
    • Role of the BLM helicase in replication fork management
    • Wu L. Role of the BLM helicase in replication fork management. DNA Repair (Amst) 2007, 6:936-944.
    • (2007) DNA Repair (Amst) , vol.6 , pp. 936-944
    • Wu, L.1
  • 90
    • 0017748038 scopus 로고
    • Bloom's syndrome. IV. Sister-chromatid exchanges in lymphocytes
    • German J., Schonberg S., Louie E., et al. Bloom's syndrome. IV. Sister-chromatid exchanges in lymphocytes. Am J Hum Genet 1977, 29:248-255.
    • (1977) Am J Hum Genet , vol.29 , pp. 248-255
    • German, J.1    Schonberg, S.2    Louie, E.3
  • 91
    • 0001004927 scopus 로고
    • Bloom's syndrome: incidence, age of onset, and types of leukemia in the Bloom's syndrome registry
    • Hemisphere, Washington, DC, C.S. Batrtsocas, D. Loukopoulos (Eds.)
    • German J. Bloom's syndrome: incidence, age of onset, and types of leukemia in the Bloom's syndrome registry. Genetics of Hematological Disorders 1992, 241-258. Hemisphere, Washington, DC. C.S. Batrtsocas, D. Loukopoulos (Eds.).
    • (1992) Genetics of Hematological Disorders , pp. 241-258
    • German, J.1
  • 92
    • 0017347623 scopus 로고
    • Stress deficiency of the T-lymphocyte system exemplified by Down syndrome
    • Whittingham S., Pitt D.B., Sharma D.L., et al. Stress deficiency of the T-lymphocyte system exemplified by Down syndrome. Lancet 1977, 1:163-166.
    • (1977) Lancet , vol.1 , pp. 163-166
    • Whittingham, S.1    Pitt, D.B.2    Sharma, D.L.3
  • 93
    • 70349257801 scopus 로고    scopus 로고
    • SPRED1 disorder and predisposition to leukemia in children
    • Pasmant E., Ballerini P., Lapillonne H., et al. SPRED1 disorder and predisposition to leukemia in children. Blood 2009, 114:1131.
    • (2009) Blood , vol.114 , pp. 1131
    • Pasmant, E.1    Ballerini, P.2    Lapillonne, H.3
  • 94
    • 68649121646 scopus 로고    scopus 로고
    • The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
    • Tidyman W.E., Rauen K.A. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 2009, 19:230-236.
    • (2009) Curr Opin Genet Dev , vol.19 , pp. 230-236
    • Tidyman, W.E.1    Rauen, K.A.2
  • 95
    • 53749095511 scopus 로고    scopus 로고
    • Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome
    • Laux D., Kratz C., Sauerbrey A. Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome. J Pediatr Hematol Oncol 2008, 30:602-604.
    • (2008) J Pediatr Hematol Oncol , vol.30 , pp. 602-604
    • Laux, D.1    Kratz, C.2    Sauerbrey, A.3
  • 96
    • 0030957310 scopus 로고    scopus 로고
    • The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
    • Gutmann D.H., Aylsworth A., Carey J.C., et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997, 278:51-57.
    • (1997) JAMA , vol.278 , pp. 51-57
    • Gutmann, D.H.1    Aylsworth, A.2    Carey, J.C.3
  • 97
    • 0017880413 scopus 로고
    • Neurofibromatosis and childhood leukemia
    • Bader J.L., Miller R.W. Neurofibromatosis and childhood leukemia. J Pediatr 1978, 92:925-929.
    • (1978) J Pediatr , vol.92 , pp. 925-929
    • Bader, J.L.1    Miller, R.W.2
  • 98
    • 65349086151 scopus 로고    scopus 로고
    • Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1
    • Brems H., Beert E., de Ravel T., et al. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol 2009, 10:508-515.
    • (2009) Lancet Oncol , vol.10 , pp. 508-515
    • Brems, H.1    Beert, E.2    de Ravel, T.3
  • 99
    • 59449101518 scopus 로고    scopus 로고
    • Neurofibromatosis type 1 revisited
    • Williams V.C., Lucas J., Babcock M.A., et al. Neurofibromatosis type 1 revisited. Pediatrics 2009, 123:124-133.
    • (2009) Pediatrics , vol.123 , pp. 124-133
    • Williams, V.C.1    Lucas, J.2    Babcock, M.A.3
  • 100
    • 33847680538 scopus 로고    scopus 로고
    • Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective
    • Ferner R.E. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol 2007, 6:340-351.
    • (2007) Lancet Neurol , vol.6 , pp. 340-351
    • Ferner, R.E.1
  • 101
    • 0028910402 scopus 로고
    • Childhood monosomy 7: epidemiology, biology, and mechanistic implications
    • Luna-Fineman S., Shannon K.M., Lange B.J. Childhood monosomy 7: epidemiology, biology, and mechanistic implications. Blood 1995, 85:1985-1999.
    • (1995) Blood , vol.85 , pp. 1985-1999
    • Luna-Fineman, S.1    Shannon, K.M.2    Lange, B.J.3
  • 102
    • 0030982905 scopus 로고    scopus 로고
    • Monosomy 7 myelodysplastic syndrome and other second malignant neoplasms in children with neurofibromatosis type 1
    • Maris J.M., Wiersma S.R., Mahgoub N., et al. Monosomy 7 myelodysplastic syndrome and other second malignant neoplasms in children with neurofibromatosis type 1. Cancer 1997, 79:1438-1446.
    • (1997) Cancer , vol.79 , pp. 1438-1446
    • Maris, J.M.1    Wiersma, S.R.2    Mahgoub, N.3
  • 103
    • 0025326726 scopus 로고
    • A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations
    • Cawthon R.M., Weiss R., Xu G.F., et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 1990, 62:193-201.
    • (1990) Cell , vol.62 , pp. 193-201
    • Cawthon, R.M.1    Weiss, R.2    Xu, G.F.3
  • 104
    • 0025369709 scopus 로고
    • Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus
    • Viskochil D., Buchberg A.M., Xu G., et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990, 62:187-192.
    • (1990) Cell , vol.62 , pp. 187-192
    • Viskochil, D.1    Buchberg, A.M.2    Xu, G.3
  • 105
    • 0025297599 scopus 로고
    • Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients
    • Wallace M.R., Marchuk D.A., Andersen L.B., et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990, 249:181-186.
    • (1990) Science , vol.249 , pp. 181-186
    • Wallace, M.R.1    Marchuk, D.A.2    Andersen, L.B.3
  • 107
    • 9044251606 scopus 로고    scopus 로고
    • Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells
    • Bollag G., Clapp D.W., Shih S., et al. Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells. Nat Genet 1996, 12:144-148.
    • (1996) Nat Genet , vol.12 , pp. 144-148
    • Bollag, G.1    Clapp, D.W.2    Shih, S.3
  • 108
    • 33947594129 scopus 로고    scopus 로고
    • Hyperactive Ras in developmental disorders and cancer
    • Schubbert S., Shannon K., Bollag G. Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer 2007, 7:295-308.
    • (2007) Nat Rev Cancer , vol.7 , pp. 295-308
    • Schubbert, S.1    Shannon, K.2    Bollag, G.3
  • 109
    • 0034081412 scopus 로고    scopus 로고
    • Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
    • Messiaen L.M., Callens T., Mortier G., et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 2000, 15:541-555.
    • (2000) Hum Mutat , vol.15 , pp. 541-555
    • Messiaen, L.M.1    Callens, T.2    Mortier, G.3
  • 110
    • 32544441269 scopus 로고    scopus 로고
    • Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients
    • Wimmer K., Yao S., Claes K., et al. Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients. Genes Chromosomes Cancer 2006, 45:265-276.
    • (2006) Genes Chromosomes Cancer , vol.45 , pp. 265-276
    • Wimmer, K.1    Yao, S.2    Claes, K.3
  • 111
    • 0028082464 scopus 로고
    • Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients
    • Kayes L.M., Burke W., Riccardi V.M., et al. Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. Am J Hum Genet 1994, 54:424-436.
    • (1994) Am J Hum Genet , vol.54 , pp. 424-436
    • Kayes, L.M.1    Burke, W.2    Riccardi, V.M.3
  • 112
    • 1042299966 scopus 로고    scopus 로고
    • Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene
    • Kluwe L., Siebert R., Gesk S., et al. Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat 2004, 23:111-116.
    • (2004) Hum Mutat , vol.23 , pp. 111-116
    • Kluwe, L.1    Siebert, R.2    Gesk, S.3
  • 113
    • 33845974480 scopus 로고    scopus 로고
    • An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation
    • Upadhyaya M., Huson S.M., Davies M., et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet 2007, 80:140-151.
    • (2007) Am J Hum Genet , vol.80 , pp. 140-151
    • Upadhyaya, M.1    Huson, S.M.2    Davies, M.3
  • 114
    • 1942452814 scopus 로고    scopus 로고
    • Juvenile xanthogranuloma associated with neurofibromatosis 1: 14 patients without evidence of hematologic malignancies
    • Cambiaghi S., Restano L., Caputo R. Juvenile xanthogranuloma associated with neurofibromatosis 1: 14 patients without evidence of hematologic malignancies. Pediatr Dermatol 2004, 21:97-101.
    • (2004) Pediatr Dermatol , vol.21 , pp. 97-101
    • Cambiaghi, S.1    Restano, L.2    Caputo, R.3
  • 115
    • 0027979146 scopus 로고
    • Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders
    • Shannon K.M., O'Connell P., Martin G.A., et al. Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl J Med 1994, 330:597-601.
    • (1994) N Engl J Med , vol.330 , pp. 597-601
    • Shannon, K.M.1    O'Connell, P.2    Martin, G.A.3
  • 116
    • 0002492427 scopus 로고    scopus 로고
    • The NF1 gene as a tumor suppressor
    • Bios Scientific Publishers, Oxford, UK, M. Upashyaya, D.N. Cooper (Eds.)
    • Side L.E., Shannon K.M. The NF1 gene as a tumor suppressor. Neurofibromatosis Type 1 1998, 133-152. Bios Scientific Publishers, Oxford, UK. M. Upashyaya, D.N. Cooper (Eds.).
    • (1998) Neurofibromatosis Type 1 , pp. 133-152
    • Side, L.E.1    Shannon, K.M.2
  • 117
    • 33747815415 scopus 로고    scopus 로고
    • Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies
    • Stephens K., Weaver M., Leppig K.A., et al. Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies. Blood 2006, 108:1684-1689.
    • (2006) Blood , vol.108 , pp. 1684-1689
    • Stephens, K.1    Weaver, M.2    Leppig, K.A.3
  • 118
  • 119
    • 0016016012 scopus 로고
    • The Ullrich-Noonan syndrome (Turner phenotype)
    • Nora J.J., Nora A.H., Sinha A.K., et al. The Ullrich-Noonan syndrome (Turner phenotype). Am J Dis Child 1974, 127:48-55.
    • (1974) Am J Dis Child , vol.127 , pp. 48-55
    • Nora, J.J.1    Nora, A.H.2    Sinha, A.K.3
  • 120
    • 20144389353 scopus 로고    scopus 로고
    • Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature
    • Jongmans M., Sistermans E.A., Rikken A., et al. Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. Am J Med Genet A 2005, 134A:165-170.
    • (2005) Am J Med Genet A , vol.134 A , pp. 165-170
    • Jongmans, M.1    Sistermans, E.A.2    Rikken, A.3
  • 121
    • 18444401014 scopus 로고    scopus 로고
    • Noonan syndrome and related disorders: genetics and pathogenesis
    • Tartaglia M., Gelb B.D. Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev Genomics Hum Genet 2005, 6:45-68.
    • (2005) Annu Rev Genomics Hum Genet , vol.6 , pp. 45-68
    • Tartaglia, M.1    Gelb, B.D.2
  • 122
    • 84870651096 scopus 로고
    • Noonan syndrome. GeneReviews, Available at: . Accessed on March 15, 2011.
    • Allanson JE. Noonan syndrome. GeneReviews, 1993-. Available at: . Accessed on March 15, 2011. http://www.ncbi.nlm.nih.gov/books/NBK1124.
    • (1993)
    • Allanson, J.E.1
  • 123
    • 76649120543 scopus 로고    scopus 로고
    • Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations
    • Denayer E., Devriendt K., de Ravel T., et al. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. Genes Chromosomes Cancer 2010, 49:242-252.
    • (2010) Genes Chromosomes Cancer , vol.49 , pp. 242-252
    • Denayer, E.1    Devriendt, K.2    de Ravel, T.3
  • 124
    • 61349163644 scopus 로고    scopus 로고
    • Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway
    • Jorge A.A., Malaquias A.C., Arnhold I.J., et al. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res 2009, 71:185-193.
    • (2009) Horm Res , vol.71 , pp. 185-193
    • Jorge, A.A.1    Malaquias, A.C.2    Arnhold, I.J.3
  • 125
    • 0033498871 scopus 로고    scopus 로고
    • Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal
    • Marino B., Digilio M.C., Toscano A., et al. Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 1999, 135:703-706.
    • (1999) J Pediatr , vol.135 , pp. 703-706
    • Marino, B.1    Digilio, M.C.2    Toscano, A.3
  • 127
    • 0023743203 scopus 로고
    • Bleeding diathesis in Noonan syndrome: a common association
    • Witt D.R., McGillivray B.C., Allanson J.E., et al. Bleeding diathesis in Noonan syndrome: a common association. Am J Med Genet 1988, 31:305-317.
    • (1988) Am J Med Genet , vol.31 , pp. 305-317
    • Witt, D.R.1    McGillivray, B.C.2    Allanson, J.E.3
  • 128
    • 0030712155 scopus 로고    scopus 로고
    • Occurrence of myeloproliferative disorder in patients with Noonan syndrome
    • Bader-Meunier B., Tchernia G., Mielot F., et al. Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr 1997, 130:885-889.
    • (1997) J Pediatr , vol.130 , pp. 885-889
    • Bader-Meunier, B.1    Tchernia, G.2    Mielot, F.3
  • 129
  • 130
    • 24744455046 scopus 로고    scopus 로고
    • The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease
    • Kratz C.P., Niemeyer C.M., Castleberry R.P., et al. The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood 2005, 106:2183-2185.
    • (2005) Blood , vol.106 , pp. 2183-2185
    • Kratz, C.P.1    Niemeyer, C.M.2    Castleberry, R.P.3
  • 131
    • 21044458262 scopus 로고    scopus 로고
    • Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
    • Niihori T., Aoki Y., Ohashi H., et al. Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. J Hum Genet 2005, 50:192-202.
    • (2005) J Hum Genet , vol.50 , pp. 192-202
    • Niihori, T.1    Aoki, Y.2    Ohashi, H.3
  • 132
    • 84984935016 scopus 로고    scopus 로고
    • Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia
    • Niemeyer C.M., Kang M.W., Shin D.H., et al. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet 2010.
    • (2010) Nat Genet
    • Niemeyer, C.M.1    Kang, M.W.2    Shin, D.H.3
  • 133
    • 0033604644 scopus 로고    scopus 로고
    • Shp-2 tyrosine phosphatase: signaling one cell or many
    • Feng G.S. Shp-2 tyrosine phosphatase: signaling one cell or many. Exp Cell Res 1999, 253:47-54.
    • (1999) Exp Cell Res , vol.253 , pp. 47-54
    • Feng, G.S.1
  • 135
    • 12144286410 scopus 로고    scopus 로고
    • Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis
    • Loh M.L., Vattikuti S., Schubbert S., et al. Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. Blood 2004, 103:2325-2331.
    • (2004) Blood , vol.103 , pp. 2325-2331
    • Loh, M.L.1    Vattikuti, S.2    Schubbert, S.3
  • 136
    • 0038278866 scopus 로고    scopus 로고
    • Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia
    • Tartaglia M., Niemeyer C.M., Fragale A., et al. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 2003, 34:148-150.
    • (2003) Nat Genet , vol.34 , pp. 148-150
    • Tartaglia, M.1    Niemeyer, C.M.2    Fragale, A.3
  • 137
    • 77954638588 scopus 로고    scopus 로고
    • The tyrosine phosphatase Shp2 in development and cancer
    • Grossmann K.S., Rosario M., Birchmeier C., et al. The tyrosine phosphatase Shp2 in development and cancer. Adv Cancer Res 2010, 106:53-89.
    • (2010) Adv Cancer Res , vol.106 , pp. 53-89
    • Grossmann, K.S.1    Rosario, M.2    Birchmeier, C.3
  • 138
    • 0032521428 scopus 로고    scopus 로고
    • Revealing mechanisms for SH2 domain mediated regulation of the protein tyrosine phosphatase SHP-2
    • Barford D., Neel B.G. Revealing mechanisms for SH2 domain mediated regulation of the protein tyrosine phosphatase SHP-2. Structure 1998, 6:249-254.
    • (1998) Structure , vol.6 , pp. 249-254
    • Barford, D.1    Neel, B.G.2
  • 139
    • 0038771965 scopus 로고    scopus 로고
    • The " Shp" ing news: SH2 domain-containing tyrosine phosphatases in cell signaling
    • Neel B.G., Gu H., Pao L. The " Shp" ing news: SH2 domain-containing tyrosine phosphatases in cell signaling. Trends Biochem Sci 2003, 28:284-293.
    • (2003) Trends Biochem Sci , vol.28 , pp. 284-293
    • Neel, B.G.1    Gu, H.2    Pao, L.3
  • 140
    • 0034091647 scopus 로고    scopus 로고
    • Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis
    • Chen B., Bronson R.T., Klaman L.D., et al. Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis. Nat Genet 2000, 24:296-299.
    • (2000) Nat Genet , vol.24 , pp. 296-299
    • Chen, B.1    Bronson, R.T.2    Klaman, L.D.3
  • 141
    • 33745265268 scopus 로고    scopus 로고
    • Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype
    • Carta C., Pantaleoni F., Bocchinfuso G., et al. Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet 2006, 79:129-135.
    • (2006) Am J Hum Genet , vol.79 , pp. 129-135
    • Carta, C.1    Pantaleoni, F.2    Bocchinfuso, G.3
  • 142
    • 77955583599 scopus 로고    scopus 로고
    • Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype
    • Martinelli S., De Luca A., Stellacci E., et al. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet 2010, 87:250-257.
    • (2010) Am J Hum Genet , vol.87 , pp. 250-257
    • Martinelli, S.1    De Luca, A.2    Stellacci, E.3
  • 143
    • 33845900943 scopus 로고    scopus 로고
    • Germline gain-of-function mutations in SOS1 cause Noonan syndrome
    • Roberts A.E., Araki T., Swanson K.D., et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 2007, 39:70-74.
    • (2007) Nat Genet , vol.39 , pp. 70-74
    • Roberts, A.E.1    Araki, T.2    Swanson, K.D.3
  • 144
    • 33644622238 scopus 로고    scopus 로고
    • Germline KRAS mutations cause Noonan syndrome
    • Schubbert S., Zenker M., Rowe S.L., et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet 2006, 38:331-336.
    • (2006) Nat Genet , vol.38 , pp. 331-336
    • Schubbert, S.1    Zenker, M.2    Rowe, S.L.3
  • 145
    • 33845884026 scopus 로고    scopus 로고
    • Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
    • Tartaglia M., Pennacchio L.A., Zhao C., et al. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 2007, 39:75-79.
    • (2007) Nat Genet , vol.39 , pp. 75-79
    • Tartaglia, M.1    Pennacchio, L.A.2    Zhao, C.3
  • 146
    • 77957809576 scopus 로고    scopus 로고
    • Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia
    • Perez B., Mechinaud F., Galambrun C., et al. Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. J Med Genet 2010, 47:686-691.
    • (2010) J Med Genet , vol.47 , pp. 686-691
    • Perez, B.1    Mechinaud, F.2    Galambrun, C.3
  • 147
    • 31544452561 scopus 로고    scopus 로고
    • Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
    • Tartaglia M., Martinelli S., Stella L., et al. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet 2006, 78:279-290.
    • (2006) Am J Hum Genet , vol.78 , pp. 279-290
    • Tartaglia, M.1    Martinelli, S.2    Stella, L.3
  • 148
    • 70349249988 scopus 로고    scopus 로고
    • Mutations in CBL occur frequently in juvenile myelomonocytic leukemia
    • Loh M.L., Sakai D.S., Flotho C., et al. Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. Blood 2009, 114:1859-1863.
    • (2009) Blood , vol.114 , pp. 1859-1863
    • Loh, M.L.1    Sakai, D.S.2    Flotho, C.3
  • 149
    • 73849105802 scopus 로고    scopus 로고
    • Genetic and pathogenetic aspects of Noonan syndrome and related disorders
    • Zenker M. Genetic and pathogenetic aspects of Noonan syndrome and related disorders. Horm Res 2009, 72(Suppl 2):57-63.
    • (2009) Horm Res , vol.72 , Issue.SUPPL. 2 , pp. 57-63
    • Zenker, M.1
  • 150
    • 0036216657 scopus 로고    scopus 로고
    • Kostmann syndrome and severe congenital neutropenia
    • Zeidler C., Welte K. Kostmann syndrome and severe congenital neutropenia. Semin Hematol 2002, 39:82-88.
    • (2002) Semin Hematol , vol.39 , pp. 82-88
    • Zeidler, C.1    Welte, K.2
  • 152
    • 77049235105 scopus 로고
    • Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria
    • Kostmann R. Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria. Acta Paediatr Suppl 1956, 45:1-78.
    • (1956) Acta Paediatr Suppl , vol.45 , pp. 1-78
    • Kostmann, R.1
  • 153
    • 58249089770 scopus 로고    scopus 로고
    • A syndrome with congenital neutropenia and mutations in G6PC3
    • Boztug K., Appaswamy G., Ashikov A., et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009, 360:32-43.
    • (2009) N Engl J Med , vol.360 , pp. 32-43
    • Boztug, K.1    Appaswamy, G.2    Ashikov, A.3
  • 154
    • 42049117271 scopus 로고    scopus 로고
    • Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations
    • Germeshausen M., Grudzien M., Zeidler C., et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood 2008, 111:4954-4957.
    • (2008) Blood , vol.111 , pp. 4954-4957
    • Germeshausen, M.1    Grudzien, M.2    Zeidler, C.3
  • 155
    • 84870638936 scopus 로고
    • ELANE-related neutropenia. GeneReviews, Available at: . Accessed on March 27, 2011.
    • Dale DC. ELANE-related neutropenia. GeneReviews, 1993-. Available at: . Accessed on March 27, 2011. http://www.ncbi.nlm.nih.gov/books/NBK1533/.
    • (1993)
    • Dale, D.C.1
  • 156
    • 33845904894 scopus 로고    scopus 로고
    • HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
    • Klein C., Grudzien M., Appaswamy G., et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007, 39:86-92.
    • (2007) Nat Genet , vol.39 , pp. 86-92
    • Klein, C.1    Grudzien, M.2    Appaswamy, G.3
  • 157
    • 33646822974 scopus 로고    scopus 로고
    • Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations
    • Boxer L.A., Stein S., Buckley D., et al. Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations. J Pediatr 2006, 148:633-636.
    • (2006) J Pediatr , vol.148 , pp. 633-636
    • Boxer, L.A.1    Stein, S.2    Buckley, D.3
  • 158
    • 0034307655 scopus 로고    scopus 로고
    • Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
    • Dale D.C., Person R.E., Bolyard A.A., et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000, 96:2317-2322.
    • (2000) Blood , vol.96 , pp. 2317-2322
    • Dale, D.C.1    Person, R.E.2    Bolyard, A.A.3
  • 159
    • 0011982978 scopus 로고    scopus 로고
    • Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy
    • Freedman M.H., Bonilla M.A., Fier C., et al. Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy. Blood 2000, 96:429-436.
    • (2000) Blood , vol.96 , pp. 429-436
    • Freedman, M.H.1    Bonilla, M.A.2    Fier, C.3
  • 160
    • 0034653975 scopus 로고    scopus 로고
    • Granulocyte colony-stimulating factor receptor mutations in severe congenital neutropenia transforming to acute myelogenous leukemia confer resistance to apoptosis and enhance cell survival
    • Hunter M.G., Avalos B.R. Granulocyte colony-stimulating factor receptor mutations in severe congenital neutropenia transforming to acute myelogenous leukemia confer resistance to apoptosis and enhance cell survival. Blood 2000, 95:2132-2137.
    • (2000) Blood , vol.95 , pp. 2132-2137
    • Hunter, M.G.1    Avalos, B.R.2
  • 161
    • 77954324689 scopus 로고    scopus 로고
    • Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy
    • Rosenberg P.S., Zeidler C., Bolyard A.A., et al. Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. Br J Haematol 2010, 150:196-199.
    • (2010) Br J Haematol , vol.150 , pp. 196-199
    • Rosenberg, P.S.1    Zeidler, C.2    Bolyard, A.A.3
  • 162
    • 33745096897 scopus 로고    scopus 로고
    • The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy
    • Rosenberg P.S., Alter B.P., Bolyard A.A., et al. The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood 2006, 107:4628-4635.
    • (2006) Blood , vol.107 , pp. 4628-4635
    • Rosenberg, P.S.1    Alter, B.P.2    Bolyard, A.A.3
  • 163
    • 77954676938 scopus 로고    scopus 로고
    • G-CSF and its receptor in myeloid malignancy
    • Beekman R., Touw I.P. G-CSF and its receptor in myeloid malignancy. Blood 2010, 115:5131-5136.
    • (2010) Blood , vol.115 , pp. 5131-5136
    • Beekman, R.1    Touw, I.P.2
  • 164
    • 0031964652 scopus 로고    scopus 로고
    • Diagnosis and clinical course of autoimmune neutropenia in infancy: analysis of 240 cases
    • Bux J., Behrens G., Jaeger G., et al. Diagnosis and clinical course of autoimmune neutropenia in infancy: analysis of 240 cases. Blood 1998, 91:181-186.
    • (1998) Blood , vol.91 , pp. 181-186
    • Bux, J.1    Behrens, G.2    Jaeger, G.3
  • 165
    • 0035017460 scopus 로고    scopus 로고
    • Clinical implications of mutations of neutrophil elastase in congenital and cyclic neutropenia
    • Dale D.C., Liles W.C., Garwicz D., et al. Clinical implications of mutations of neutrophil elastase in congenital and cyclic neutropenia. J Pediatr Hematol Oncol 2001, 23:208-210.
    • (2001) J Pediatr Hematol Oncol , vol.23 , pp. 208-210
    • Dale, D.C.1    Liles, W.C.2    Garwicz, D.3
  • 166
    • 33847395071 scopus 로고    scopus 로고
    • Neutrophil elastase in cyclic and severe congenital neutropenia
    • Horwitz M.S., Duan Z., Korkmaz B., et al. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood 2007, 109:1817-1824.
    • (2007) Blood , vol.109 , pp. 1817-1824
    • Horwitz, M.S.1    Duan, Z.2    Korkmaz, B.3
  • 167
    • 39649098272 scopus 로고    scopus 로고
    • Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis
    • Grenda D.S., Murakami M., Ghatak J., et al. Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. Blood 2007, 110:4179-4187.
    • (2007) Blood , vol.110 , pp. 4179-4187
    • Grenda, D.S.1    Murakami, M.2    Ghatak, J.3
  • 168
    • 33745490496 scopus 로고    scopus 로고
    • Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response
    • Kollner I., Sodeik B., Schreek S., et al. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood 2006, 108:493-500.
    • (2006) Blood , vol.108 , pp. 493-500
    • Kollner, I.1    Sodeik, B.2    Schreek, S.3
  • 169
    • 33845972945 scopus 로고    scopus 로고
    • Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey
    • Germeshausen M., Ballmaier M., Welte K. Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey. Blood 2007, 109:93-99.
    • (2007) Blood , vol.109 , pp. 93-99
    • Germeshausen, M.1    Ballmaier, M.2    Welte, K.3
  • 170
    • 58549087140 scopus 로고    scopus 로고
    • Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia
    • Zeidler C., Germeshausen M., Klein C., et al. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. British Journal of Haematology 2009, 144:459-467.
    • (2009) British Journal of Haematology , vol.144 , pp. 459-467
    • Zeidler, C.1    Germeshausen, M.2    Klein, C.3
  • 171
    • 0024317186 scopus 로고
    • Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis
    • Bonilla M.A., Gillio A.P., Ruggeiro M., et al. Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis. N Engl J Med 1989, 320:1574-1580.
    • (1989) N Engl J Med , vol.320 , pp. 1574-1580
    • Bonilla, M.A.1    Gillio, A.P.2    Ruggeiro, M.3
  • 172
    • 0027269718 scopus 로고
    • A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia
    • Dale D.C., Bonilla M.A., Davis M.W., et al. A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia. Blood 1993, 81:2496-2502.
    • (1993) Blood , vol.81 , pp. 2496-2502
    • Dale, D.C.1    Bonilla, M.A.2    Davis, M.W.3
  • 173
    • 0030814335 scopus 로고    scopus 로고
    • Severe chronic neutropenia: pathophysiology and therapy
    • Welte K., Boxer L.A. Severe chronic neutropenia: pathophysiology and therapy. Semin Hematol 1997, 34:267-278.
    • (1997) Semin Hematol , vol.34 , pp. 267-278
    • Welte, K.1    Boxer, L.A.2
  • 174
    • 75949086263 scopus 로고    scopus 로고
    • Hematopoetic stem cell transplantation in neutrophil disorders: severe congenital neutropenia, leukocyte adhesion deficiency and chronic granulomatous disease
    • Elhasid R., Rowe J.M. Hematopoetic stem cell transplantation in neutrophil disorders: severe congenital neutropenia, leukocyte adhesion deficiency and chronic granulomatous disease. Clin Rev Allergy Immunol 2010, 38:61-67.
    • (2010) Clin Rev Allergy Immunol , vol.38 , pp. 61-67
    • Elhasid, R.1    Rowe, J.M.2
  • 175
    • 0034651925 scopus 로고    scopus 로고
    • Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation
    • Zeidler C., Welte K., Barak Y., et al. Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation. Blood 2000, 95:1195-1198.
    • (2000) Blood , vol.95 , pp. 1195-1198
    • Zeidler, C.1    Welte, K.2    Barak, Y.3
  • 176
    • 15544363068 scopus 로고    scopus 로고
    • Stem cell transplantation in patients with severe congenital neutropenia with evidence of leukemic transformation
    • Choi S.W., Boxer L.A., Pulsipher M.A., et al. Stem cell transplantation in patients with severe congenital neutropenia with evidence of leukemic transformation. Bone Marrow Transplant 2005, 35:473-477.
    • (2005) Bone Marrow Transplant , vol.35 , pp. 473-477
    • Choi, S.W.1    Boxer, L.A.2    Pulsipher, M.A.3
  • 177
    • 58149378467 scopus 로고    scopus 로고
    • Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy
    • Owen C.J., Toze C.L., Koochin A., et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood 2008, 112:4639-4645.
    • (2008) Blood , vol.112 , pp. 4639-4645
    • Owen, C.J.1    Toze, C.L.2    Koochin, A.3
  • 178
    • 67049162141 scopus 로고    scopus 로고
    • High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder
    • Preudhomme C., Renneville A., Bourdon V., et al. High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. Blood 2009, 113:5583-5587.
    • (2009) Blood , vol.113 , pp. 5583-5587
    • Preudhomme, C.1    Renneville, A.2    Bourdon, V.3
  • 179
    • 74249104168 scopus 로고    scopus 로고
    • Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome
    • Jongmans M.C., Kuiper R.P., Carmichael C.L., et al. Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome. Leukemia 2010, 24:242-246.
    • (2010) Leukemia , vol.24 , pp. 242-246
    • Jongmans, M.C.1    Kuiper, R.P.2    Carmichael, C.L.3
  • 180
    • 37249015529 scopus 로고    scopus 로고
    • Familial myelodysplasia and acute myeloid leukaemia-a review
    • Owen C., Barnett M., Fitzgibbon J. Familial myelodysplasia and acute myeloid leukaemia-a review. Br J Haematol 2008, 140:123-132.
    • (2008) Br J Haematol , vol.140 , pp. 123-132
    • Owen, C.1    Barnett, M.2    Fitzgibbon, J.3
  • 181
    • 0842322951 scopus 로고    scopus 로고
    • Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia
    • Ganly P., Walker L.C., Morris C.M. Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia. Leuk Lymphoma 2004, 45:1-10.
    • (2004) Leuk Lymphoma , vol.45 , pp. 1-10
    • Ganly, P.1    Walker, L.C.2    Morris, C.M.3
  • 182
    • 0036281064 scopus 로고    scopus 로고
    • A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia
    • Walker L.C., Stevens J., Campbell H., et al. A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia. Br J Haematol 2002, 117:878-881.
    • (2002) Br J Haematol , vol.117 , pp. 878-881
    • Walker, L.C.1    Stevens, J.2    Campbell, H.3
  • 183
    • 77955175742 scopus 로고    scopus 로고
    • T cell acute lymphoblastic leukemia arising from familial platelet disorder
    • Nishimoto N., Imai Y., Ueda K., et al. T cell acute lymphoblastic leukemia arising from familial platelet disorder. Int J Hematol 2010, 92:194-197.
    • (2010) Int J Hematol , vol.92 , pp. 194-197
    • Nishimoto, N.1    Imai, Y.2    Ueda, K.3
  • 184
    • 0032830638 scopus 로고    scopus 로고
    • Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia
    • Song W.J., Sullivan M.G., Legare R.D., et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999, 23:166-175.
    • (1999) Nat Genet , vol.23 , pp. 166-175
    • Song, W.J.1    Sullivan, M.G.2    Legare, R.D.3
  • 185
    • 51249106466 scopus 로고    scopus 로고
    • Integrative analysis of RUNX1 downstream pathways and target genes
    • Michaud J., Simpson K.M., Escher R., et al. Integrative analysis of RUNX1 downstream pathways and target genes. BMC Genomics 2008, 9:363.
    • (2008) BMC Genomics , vol.9 , pp. 363
    • Michaud, J.1    Simpson, K.M.2    Escher, R.3
  • 186
    • 71949088306 scopus 로고    scopus 로고
    • Perspectives on RUNX genes: an update
    • Cohen M.M. Perspectives on RUNX genes: an update. Am J Med Genet A 2009, 149A:2629-2646.
    • (2009) Am J Med Genet A , vol.149 A , pp. 2629-2646
    • Cohen, M.M.1
  • 187
    • 73349130011 scopus 로고    scopus 로고
    • The role of Runx1/AML1 and Evi-1 in the regulation of hematopoietic stem cells
    • Kumano K., Kurokawa M. The role of Runx1/AML1 and Evi-1 in the regulation of hematopoietic stem cells. J Cell Physiol 2010, 222:282-285.
    • (2010) J Cell Physiol , vol.222 , pp. 282-285
    • Kumano, K.1    Kurokawa, M.2
  • 188
    • 0037082499 scopus 로고    scopus 로고
    • In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis
    • Michaud J., Wu F., Osato M., et al. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood 2002, 99:1364-1372.
    • (2002) Blood , vol.99 , pp. 1364-1372
    • Michaud, J.1    Wu, F.2    Osato, M.3
  • 189
    • 20444399868 scopus 로고    scopus 로고
    • Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation
    • Heller P.G., Glembotsky A.C., Gandhi M.J., et al. Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. Blood 2005, 105:4664-4670.
    • (2005) Blood , vol.105 , pp. 4664-4670
    • Heller, P.G.1    Glembotsky, A.C.2    Gandhi, M.J.3
  • 190
    • 33644916915 scopus 로고    scopus 로고
    • Increased dosage of the RUNX1/AML1 gene: a third mode of RUNX leukemia?
    • Osato M., Ito Y. Increased dosage of the RUNX1/AML1 gene: a third mode of RUNX leukemia?. Crit Rev Eukaryot Gene Expr 2005, 15:217-228.
    • (2005) Crit Rev Eukaryot Gene Expr , vol.15 , pp. 217-228
    • Osato, M.1    Ito, Y.2
  • 191
    • 77955715121 scopus 로고    scopus 로고
    • Mutation analysis for RUNX1, MLL-PTD, FLT3-ITD, NPM1 and NRAS in 269 patients with MDS or secondary AML
    • Dicker F., Haferlach C., Sundermann J., et al. Mutation analysis for RUNX1, MLL-PTD, FLT3-ITD, NPM1 and NRAS in 269 patients with MDS or secondary AML. Leukemia 2010.
    • (2010) Leukemia
    • Dicker, F.1    Haferlach, C.2    Sundermann, J.3
  • 192
    • 0035525785 scopus 로고    scopus 로고
    • A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies
    • Buijs A., Poddighe P., van Wijk R., et al. A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. Blood 2001, 98:2856-2858.
    • (2001) Blood , vol.98 , pp. 2856-2858
    • Buijs, A.1    Poddighe, P.2    van Wijk, R.3
  • 193
    • 76649091256 scopus 로고    scopus 로고
    • A family harboring a germ-line N-terminal C/EBPalpha mutation and development of acute myeloid leukemia with an additional somatic C-terminal C/EBPalpha mutation
    • Nanri T., Uike N., Kawakita T., et al. A family harboring a germ-line N-terminal C/EBPalpha mutation and development of acute myeloid leukemia with an additional somatic C-terminal C/EBPalpha mutation. Genes Chromosomes Cancer 2010, 49:237-241.
    • (2010) Genes Chromosomes Cancer , vol.49 , pp. 237-241
    • Nanri, T.1    Uike, N.2    Kawakita, T.3
  • 194
    • 55549133272 scopus 로고    scopus 로고
    • Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia
    • Pabst T., Eyholzer M., Haefliger S., et al. Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. J Clin Oncol 2008, 26:5088-5093.
    • (2008) J Clin Oncol , vol.26 , pp. 5088-5093
    • Pabst, T.1    Eyholzer, M.2    Haefliger, S.3
  • 195
    • 64849093213 scopus 로고    scopus 로고
    • Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation
    • Renneville A., Mialou V., Philippe N., et al. Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation. Leukemia 2009, 23:804-806.
    • (2009) Leukemia , vol.23 , pp. 804-806
    • Renneville, A.1    Mialou, V.2    Philippe, N.3
  • 196
    • 21744438305 scopus 로고    scopus 로고
    • Further evidence that germline CEBPA mutations cause dominant inheritance of acute myeloid leukaemia
    • Sellick G.S., Spendlove H.E., Catovsky D., et al. Further evidence that germline CEBPA mutations cause dominant inheritance of acute myeloid leukaemia. Leukemia 2005, 19:1276-1278.
    • (2005) Leukemia , vol.19 , pp. 1276-1278
    • Sellick, G.S.1    Spendlove, H.E.2    Catovsky, D.3
  • 197
    • 16544391755 scopus 로고    scopus 로고
    • Mutation of CEBPA in familial acute myeloid leukemia
    • Smith M.L., Cavenagh J.D., Lister T.A., et al. Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med 2004, 351:2403-2407.
    • (2004) N Engl J Med , vol.351 , pp. 2403-2407
    • Smith, M.L.1    Cavenagh, J.D.2    Lister, T.A.3
  • 198
    • 41949109794 scopus 로고    scopus 로고
    • CEBPA polymorphisms and mutations in patients with acute myeloid leukemia, myelodysplastic syndrome, multiple myeloma and non-Hodgkin's lymphoma
    • Fuchs O., Provaznikova D., Kocova M., et al. CEBPA polymorphisms and mutations in patients with acute myeloid leukemia, myelodysplastic syndrome, multiple myeloma and non-Hodgkin's lymphoma. Blood Cells Mol Dis 2008, 40:401-405.
    • (2008) Blood Cells Mol Dis , vol.40 , pp. 401-405
    • Fuchs, O.1    Provaznikova, D.2    Kocova, M.3
  • 199
    • 39749128712 scopus 로고    scopus 로고
    • Leukemias associated with Turner syndrome: report of three cases and review of the literature
    • Manola K.N., Sambani C., Karakasis D., et al. Leukemias associated with Turner syndrome: report of three cases and review of the literature. Leuk Res 2008, 32:481-486.
    • (2008) Leuk Res , vol.32 , pp. 481-486
    • Manola, K.N.1    Sambani, C.2    Karakasis, D.3
  • 200
    • 33749571403 scopus 로고    scopus 로고
    • A case of Turner syndrome associated with acute myeloid leukemia (M2)
    • Patroglu T., Torun Y.A., Karakukcu M., et al. A case of Turner syndrome associated with acute myeloid leukemia (M2). J Pediatr Hematol Oncol 2006, 28:682-683.
    • (2006) J Pediatr Hematol Oncol , vol.28 , pp. 682-683
    • Patroglu, T.1    Torun, Y.A.2    Karakukcu, M.3
  • 201
    • 0030904019 scopus 로고    scopus 로고
    • Monosomy X as a recurring sole cytogenetic abnormality associated with myelodysplastic diseases
    • Abruzzese E., Rao P.N., Slatkoff M., et al. Monosomy X as a recurring sole cytogenetic abnormality associated with myelodysplastic diseases. Cancer Genet Cytogenet 1997, 93:140-146.
    • (1997) Cancer Genet Cytogenet , vol.93 , pp. 140-146
    • Abruzzese, E.1    Rao, P.N.2    Slatkoff, M.3
  • 202
    • 0036131872 scopus 로고    scopus 로고
    • Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases
    • Maserati E., Aprili F., Vinante F., et al. Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases. Genes Chromosomes Cancer 2002, 33:93-97.
    • (2002) Genes Chromosomes Cancer , vol.33 , pp. 93-97
    • Maserati, E.1    Aprili, F.2    Vinante, F.3
  • 203
    • 0033843813 scopus 로고    scopus 로고
    • Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism
    • Brady A.F., Waters C.S., Pocha M.J., et al. Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism. Clin Genet 2000, 58:142-146.
    • (2000) Clin Genet , vol.58 , pp. 142-146
    • Brady, A.F.1    Waters, C.S.2    Pocha, M.J.3
  • 204
    • 34447560905 scopus 로고    scopus 로고
    • A novel t(8;18)(q13;q21) in acute monocytic leukemia evolving from constitutional trisomy 8 mosaicism
    • Yamamoto K., Okamura A., Kawano H., et al. A novel t(8;18)(q13;q21) in acute monocytic leukemia evolving from constitutional trisomy 8 mosaicism. Cancer Genet Cytogenet 2007, 176:144-149.
    • (2007) Cancer Genet Cytogenet , vol.176 , pp. 144-149
    • Yamamoto, K.1    Okamura, A.2    Kawano, H.3
  • 205
    • 0028881534 scopus 로고
    • Myelodysplastic syndrome in a child with constitutional trisomy 8 mosaicism and normal phenotype
    • Hasle H., Clausen N., Pedersen B., et al. Myelodysplastic syndrome in a child with constitutional trisomy 8 mosaicism and normal phenotype. Cancer Genet Cytogenet 1995, 79:79-81.
    • (1995) Cancer Genet Cytogenet , vol.79 , pp. 79-81
    • Hasle, H.1    Clausen, N.2    Pedersen, B.3
  • 206
    • 1842710066 scopus 로고    scopus 로고
    • Characterization of bone marrow stromal abnormalities in a patient with constitutional trisomy 8 mosaicism and myelodysplastic syndrome
    • Narendran A., Hawkins L.M., Ganjavi H., et al. Characterization of bone marrow stromal abnormalities in a patient with constitutional trisomy 8 mosaicism and myelodysplastic syndrome. Pediatr Hematol Oncol 2004, 21:209-221.
    • (2004) Pediatr Hematol Oncol , vol.21 , pp. 209-221
    • Narendran, A.1    Hawkins, L.M.2    Ganjavi, H.3
  • 207
    • 10544255084 scopus 로고    scopus 로고
    • Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic, and molecular data on three cases
    • Seghezzi L., Maserati E., Minelli A., et al. Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic, and molecular data on three cases. Genes Chromosomes Cancer 1996, 17:94-101.
    • (1996) Genes Chromosomes Cancer , vol.17 , pp. 94-101
    • Seghezzi, L.1    Maserati, E.2    Minelli, A.3
  • 208
    • 55549147943 scopus 로고    scopus 로고
    • Trisomy 8 in an allogeneic stem cell transplant recipient representative of a donor-derived constitutional abnormality
    • Frey N.V., Leid C.E., Nowell P.C., et al. Trisomy 8 in an allogeneic stem cell transplant recipient representative of a donor-derived constitutional abnormality. Am J Hematol 2008, 83:846-849.
    • (2008) Am J Hematol , vol.83 , pp. 846-849
    • Frey, N.V.1    Leid, C.E.2    Nowell, P.C.3
  • 209
    • 63149148538 scopus 로고    scopus 로고
    • Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome
    • Malinge S., Izraeli S., Crispino J.D. Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome. Blood 2009, 113:2619-2628.
    • (2009) Blood , vol.113 , pp. 2619-2628
    • Malinge, S.1    Izraeli, S.2    Crispino, J.D.3
  • 210
    • 0001430504 scopus 로고
    • Acute lymphatic leukemia: report of case in eleventh month mongolian idiot
    • Brewster H., Cannon H. Acute lymphatic leukemia: report of case in eleventh month mongolian idiot. New Orleans Medical Surgery Journal 1930, 82:872-873.
    • (1930) New Orleans Medical Surgery Journal , vol.82 , pp. 872-873
    • Brewster, H.1    Cannon, H.2
  • 211
    • 84870642017 scopus 로고
    • Online Mendelian Inheritance in Man (OMIM). Down syndrome. Available at: . Accessed on April 21, 2011.
    • Online Mendelian Inheritance in Man (OMIM). Down syndrome. 1994-. Available at: . Accessed on April 21, 2011. http://www.ncbi.nlm.nih.gov/omim.
    • (1994)
  • 212
    • 0033780541 scopus 로고    scopus 로고
    • The management of neoplastic disorders of haematopoiesis in children with Down's syndrome
    • Lange B. The management of neoplastic disorders of haematopoiesis in children with Down's syndrome. Br J Haematol 2000, 110:512-524.
    • (2000) Br J Haematol , vol.110 , pp. 512-524
    • Lange, B.1
  • 213
    • 77952020384 scopus 로고    scopus 로고
    • The role of chromosome 21 in hematology and oncology
    • Fonatsch C. The role of chromosome 21 in hematology and oncology. Genes Chromosomes Cancer 2010, 49:497-508.
    • (2010) Genes Chromosomes Cancer , vol.49 , pp. 497-508
    • Fonatsch, C.1
  • 214
    • 35648968664 scopus 로고    scopus 로고
    • Acute megakaryoblastic leukemia in Down syndrome
    • Hitzler J.K. Acute megakaryoblastic leukemia in Down syndrome. Pediatr Blood Cancer 2007, 49:1066-1069.
    • (2007) Pediatr Blood Cancer , vol.49 , pp. 1066-1069
    • Hitzler, J.K.1
  • 215
    • 33745076542 scopus 로고    scopus 로고
    • A prospective study of the natural history of transient leukemia (TL) in neonates with Down syndrome (DS): Children's Oncology Group (COG) study POG-9481
    • Massey G.V., Zipursky A., Chang M.N., et al. A prospective study of the natural history of transient leukemia (TL) in neonates with Down syndrome (DS): Children's Oncology Group (COG) study POG-9481. Blood 2006, 107:4606-4613.
    • (2006) Blood , vol.107 , pp. 4606-4613
    • Massey, G.V.1    Zipursky, A.2    Chang, M.N.3
  • 216
    • 84870650768 scopus 로고
    • GATA1-related X-linked cytopenia. GeneReviews, Available at: . Accessed on April 19, 2011.
    • Kacena MA, Chou ST, Weiss MJ, et al. GATA1-related X-linked cytopenia. GeneReviews, 1993-. Available at: . Accessed on April 19, 2011. http://www.ncbi.nlm.nih.gov/books/NBK1364/.
    • (1993)
    • Kacena, M.A.1    Chou, S.T.2    Weiss, M.J.3
  • 218
    • 33745579586 scopus 로고    scopus 로고
    • An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis
    • Hollanda L.M., Lima C.S., Cunha A.F., et al. An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. Nat Genet 2006, 38:807-812.
    • (2006) Nat Genet , vol.38 , pp. 807-812
    • Hollanda, L.M.1    Lima, C.S.2    Cunha, A.F.3
  • 219
    • 78649492744 scopus 로고    scopus 로고
    • Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia
    • Kanezaki R., Toki T., Terui K., et al. Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia. Blood 2010, 116:4631-4638.
    • (2010) Blood , vol.116 , pp. 4631-4638
    • Kanezaki, R.1    Toki, T.2    Terui, K.3
  • 221
    • 70349218026 scopus 로고    scopus 로고
    • Acute megakaryoblastic leukaemia (AMKL) and transient myeloproliferative disorder (TMD) in Down syndrome: a multi-step model of myeloid leukaemogenesis
    • Roy A., Roberts I., Norton A., et al. Acute megakaryoblastic leukaemia (AMKL) and transient myeloproliferative disorder (TMD) in Down syndrome: a multi-step model of myeloid leukaemogenesis. Br J Haematol 2009, 147:3-12.
    • (2009) Br J Haematol , vol.147 , pp. 3-12
    • Roy, A.1    Roberts, I.2    Norton, A.3
  • 222
    • 0031213812 scopus 로고    scopus 로고
    • Acute myeloblastic leukemia associated with trisomy 8 and translocation 8;21 in a child with Down syndrome
    • Yamaguchi Y., Fujii H., Kazama H., et al. Acute myeloblastic leukemia associated with trisomy 8 and translocation 8;21 in a child with Down syndrome. Cancer Genet Cytogenet 1997, 97:32-34.
    • (1997) Cancer Genet Cytogenet , vol.97 , pp. 32-34
    • Yamaguchi, Y.1    Fujii, H.2    Kazama, H.3
  • 223
    • 38949211469 scopus 로고    scopus 로고
    • Acute megakaryoblastic leukaemia (AMKL) in children: a comparison of AMKL with and without Down syndrome
    • Hama A., Yagasaki H., Takahashi Y., et al. Acute megakaryoblastic leukaemia (AMKL) in children: a comparison of AMKL with and without Down syndrome. Br J Haematol 2008, 140:552-561.
    • (2008) Br J Haematol , vol.140 , pp. 552-561
    • Hama, A.1    Yagasaki, H.2    Takahashi, Y.3
  • 224
    • 58149385367 scopus 로고    scopus 로고
    • Outcome and toxicity of chemotherapy for acute lymphoblastic leukemia in children with Down syndrome
    • Shah N., Al-Ahmari A., Al-Yamani A., et al. Outcome and toxicity of chemotherapy for acute lymphoblastic leukemia in children with Down syndrome. Pediatr Blood Cancer 2009, 52:14-19.
    • (2009) Pediatr Blood Cancer , vol.52 , pp. 14-19
    • Shah, N.1    Al-Ahmari, A.2    Al-Yamani, A.3
  • 225
    • 28844446288 scopus 로고    scopus 로고
    • Clinical characteristics and outcome of children with Down syndrome and acute lymphoblastic leukemia: a Children's Cancer Group study
    • Whitlock J.A., Sather H.N., Gaynon P., et al. Clinical characteristics and outcome of children with Down syndrome and acute lymphoblastic leukemia: a Children's Cancer Group study. Blood 2005, 106:4043-4049.
    • (2005) Blood , vol.106 , pp. 4043-4049
    • Whitlock, J.A.1    Sather, H.N.2    Gaynon, P.3
  • 226
    • 77954491626 scopus 로고    scopus 로고
    • Down syndrome childhood acute lymphoblastic leukemia has a unique spectrum of sentinel cytogenetic lesions that influences treatment outcome: a report from the Children's Oncology Group
    • Maloney K.W., Carroll W.L., Carroll A.J., et al. Down syndrome childhood acute lymphoblastic leukemia has a unique spectrum of sentinel cytogenetic lesions that influences treatment outcome: a report from the Children's Oncology Group. Blood 2010, 116:1045-1050.
    • (2010) Blood , vol.116 , pp. 1045-1050
    • Maloney, K.W.1    Carroll, W.L.2    Carroll, A.J.3
  • 227
    • 33750547601 scopus 로고    scopus 로고
    • Down syndrome and acute lymphoblastic leukaemia
    • Whitlock J.A. Down syndrome and acute lymphoblastic leukaemia. Br J Haematol 2006, 135:595-602.
    • (2006) Br J Haematol , vol.135 , pp. 595-602
    • Whitlock, J.A.1
  • 228
    • 54349086521 scopus 로고    scopus 로고
    • Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome
    • Bercovich D., Ganmore I., Scott L.M., et al. Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome. Lancet 2008, 372:1484-1492.
    • (2008) Lancet , vol.372 , pp. 1484-1492
    • Bercovich, D.1    Ganmore, I.2    Scott, L.M.3
  • 229
    • 60649110931 scopus 로고    scopus 로고
    • Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia
    • Gaikwad A., Rye C.L., Devidas M., et al. Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia. Br J Haematol 2009, 144:930-932.
    • (2009) Br J Haematol , vol.144 , pp. 930-932
    • Gaikwad, A.1    Rye, C.L.2    Devidas, M.3
  • 230
    • 77649214639 scopus 로고    scopus 로고
    • Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group
    • Hertzberg L., Vendramini E., Ganmore I., et al. Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group. Blood 2010, 115:1006-1017.
    • (2010) Blood , vol.115 , pp. 1006-1017
    • Hertzberg, L.1    Vendramini, E.2    Ganmore, I.3
  • 231
    • 70350680415 scopus 로고    scopus 로고
    • Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia
    • Mullighan C.G., Collins-Underwood J.R., Phillips L.A., et al. Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia. Nat Genet 2009, 41:1243-1246.
    • (2009) Nat Genet , vol.41 , pp. 1243-1246
    • Mullighan, C.G.1    Collins-Underwood, J.R.2    Phillips, L.A.3
  • 232
    • 79952243153 scopus 로고    scopus 로고
    • Acute lymphoblastic leukemia and Down syndrome: the collaborative study of the Tokyo Children's Cancer Study Group and the Kyushu Yamaguchi Children's Cancer Study Group
    • Goto H., Inukai T., Inoue H., et al. Acute lymphoblastic leukemia and Down syndrome: the collaborative study of the Tokyo Children's Cancer Study Group and the Kyushu Yamaguchi Children's Cancer Study Group. Int J Hematol 2011, 93:192-198.
    • (2011) Int J Hematol , vol.93 , pp. 192-198
    • Goto, H.1    Inukai, T.2    Inoue, H.3
  • 233
    • 58549090093 scopus 로고    scopus 로고
    • Juvenile myelomonocytic leukemia: a report from the 2nd International JMML Symposium
    • Chan R.J., Cooper T., Kratz C.P., et al. Juvenile myelomonocytic leukemia: a report from the 2nd International JMML Symposium. Leukemia Research 2009, 33:355-362.
    • (2009) Leukemia Research , vol.33 , pp. 355-362
    • Chan, R.J.1    Cooper, T.2    Kratz, C.P.3
  • 234
    • 4444292985 scopus 로고    scopus 로고
    • Highly penetrant hereditary cancer syndromes
    • Nagy R., Sweet K., Eng C. Highly penetrant hereditary cancer syndromes. Oncogene 2004, 23:6445-6470.
    • (2004) Oncogene , vol.23 , pp. 6445-6470
    • Nagy, R.1    Sweet, K.2    Eng, C.3
  • 235
    • 8544271687 scopus 로고    scopus 로고
    • Fanconi anemia in Ashkenazi Jews
    • Kutler D.I., Auerbach A.D. Fanconi anemia in Ashkenazi Jews. Familial Cancer 2004, 3:241-248.
    • (2004) Familial Cancer , vol.3 , pp. 241-248
    • Kutler, D.I.1    Auerbach, A.D.2
  • 236
    • 67650451108 scopus 로고    scopus 로고
    • Fanconi anemia and its diagnosis
    • Auerbach A.D. Fanconi anemia and its diagnosis. Mutat Res 2009, 668:4-10.
    • (2009) Mutat Res , vol.668 , pp. 4-10
    • Auerbach, A.D.1
  • 237
    • 0037110167 scopus 로고    scopus 로고
    • Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers
    • Drabek J., Hajduch M., Gojova L., et al. Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers. Cancer Genet Cytogenet 2002, 138:157-159.
    • (2002) Cancer Genet Cytogenet , vol.138 , pp. 157-159
    • Drabek, J.1    Hajduch, M.2    Gojova, L.3
  • 238
    • 0031678636 scopus 로고    scopus 로고
    • Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population
    • Li L., Eng C., Desnick R.J., et al. Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. Mol Genet Metab 1998, 64:286-290.
    • (1998) Mol Genet Metab , vol.64 , pp. 286-290
    • Li, L.1    Eng, C.2    Desnick, R.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.