메뉴 건너뛰기




Volumn 163, Issue 2, 2013, Pages 601-603

Simultaneous colonic adenocarcinoma and medulloblastoma in a 12-year-old with biallelic deletions in PMS2

Author keywords

CMMR D; Constitutional mismatch repair deficiency; Magnetic resonance imaging; MRI

Indexed keywords

ANTINUCLEAR ANTIBODY; DOUBLE STRANDED DNA; FLUOROURACIL; FOLINIC ACID; HYDROXYCHLOROQUINE; IRINOTECAN; MISMATCH REPAIR PROTEIN PMS2; OXALIPLATIN; PREDNISONE; SMOOTH MUSCLE ANTIBODY;

EID: 84880636300     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2013.03.007     Document Type: Article
Times cited : (11)

References (11)
  • 1
    • 78651120360 scopus 로고
    • Malignant tumors of the central nervous system associated with familial polyposis of the colon: Report of two cases
    • J. Turcot, J.P. Despres, and F. St Pierre Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases Dis Colon Rectum 2 1959 465 468
    • (1959) Dis Colon Rectum , vol.2 , pp. 465-468
    • Turcot, J.1    Despres, J.P.2    St Pierre, F.3
  • 3
    • 75149189218 scopus 로고    scopus 로고
    • Neurooncology of familial cancer syndromes
    • A.F. Hottinger, and Y. Khakoo Neurooncology of familial cancer syndromes J Child Neurol 24 2009 1526 1535
    • (2009) J Child Neurol , vol.24 , pp. 1526-1535
    • Hottinger, A.F.1    Khakoo, Y.2
  • 4
    • 24144463165 scopus 로고    scopus 로고
    • Lynch syndrome genes
    • P. Peltomaki Lynch syndrome genes Fam Cancer 4 2005 227 232
    • (2005) Fam Cancer , vol.4 , pp. 227-232
    • Peltomaki, P.1
  • 6
    • 34249723181 scopus 로고    scopus 로고
    • Constitutive deficiency in DNA mismatch repair
    • K.E. Felton, D.M. Gilchrist, and S.E. Andrew Constitutive deficiency in DNA mismatch repair Clin Genet 71 2007 483 498
    • (2007) Clin Genet , vol.71 , pp. 483-498
    • Felton, K.E.1    Gilchrist, D.M.2    Andrew, S.E.3
  • 7
    • 34249738616 scopus 로고    scopus 로고
    • Constitutive deficiency in DNA mismatch repair: Is it time for Lynch III?
    • K.E. Felton, D.M. Gilchrist, and S.E. Andrew Constitutive deficiency in DNA mismatch repair: is it time for Lynch III? Clin Genet 71 2007 499 500
    • (2007) Clin Genet , vol.71 , pp. 499-500
    • Felton, K.E.1    Gilchrist, D.M.2    Andrew, S.E.3
  • 8
    • 77952317756 scopus 로고    scopus 로고
    • Constitutional mismatch repair-deficiency syndrome
    • K. Wimmer, and C.P. Kratz Constitutional mismatch repair-deficiency syndrome Haematologica 95 2010 699 701
    • (2010) Haematologica , vol.95 , pp. 699-701
    • Wimmer, K.1    Kratz, C.P.2
  • 9
    • 50649111364 scopus 로고    scopus 로고
    • Constitutional mismatch repair-deficiency syndrome: Have we so far seen only the tip of an iceberg?
    • K. Wimmer, and J. Etzler Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? Hum Genet 124 2008 105 122
    • (2008) Hum Genet , vol.124 , pp. 105-122
    • Wimmer, K.1    Etzler, J.2
  • 10
    • 33646044700 scopus 로고    scopus 로고
    • Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor
    • J. Plaschke, M. Linnebacher, M. Kloor, J. Gebert, F.W. Cremer, and S. Tinschert Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor Eur J Hum Genet 14 2006 561 566
    • (2006) Eur J Hum Genet , vol.14 , pp. 561-566
    • Plaschke, J.1    Linnebacher, M.2    Kloor, M.3    Gebert, J.4    Cremer, F.W.5    Tinschert, S.6
  • 11
    • 43049090849 scopus 로고    scopus 로고
    • Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo, and systemic lupus erythematosus
    • N. Rahner, G. Hoefler, C. Hogenauer, C. Lackner, V. Steinke, and M. Sengteller Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo, and systemic lupus erythematosus Am J Med Genet A 146A 2008 1314 1319
    • (2008) Am J Med Genet A , vol.146 A , pp. 1314-1319
    • Rahner, N.1    Hoefler, G.2    Hogenauer, C.3    Lackner, C.4    Steinke, V.5    Sengteller, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.