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Volumn 10, Issue , 2010, Pages

Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; RNA; NEUROFIBROMIN;

EID: 77955207634     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/1471-2407-10-407     Document Type: Article
Times cited : (7)

References (24)
  • 1
    • 0025201012 scopus 로고
    • The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins
    • 10.1016/0092-8674(90)90151-4, 2121371
    • Ballester R, Marchuk D, Boguski M, Saulino A, Letcher R, Wigler M, Collins F. The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 1990, 63:851-859. 10.1016/0092-8674(90)90151-4, 2121371.
    • (1990) Cell , vol.63 , pp. 851-859
    • Ballester, R.1    Marchuk, D.2    Boguski, M.3    Saulino, A.4    Letcher, R.5    Wigler, M.6    Collins, F.7
  • 4
    • 0036494640 scopus 로고    scopus 로고
    • International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis
    • Ferner RE, Gutmann DH. International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res 2002, 62:1573-1577.
    • (2002) Cancer Res , vol.62 , pp. 1573-1577
    • Ferner, R.E.1    Gutmann, D.H.2
  • 6
    • 0030969205 scopus 로고    scopus 로고
    • Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients
    • 10.1007/s004390050438, 9187663
    • Valero MC, Pascual-Castroviejo I, Velasco E, Moreno F, Hernández-Chico C. Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients. Hum Genet 1997, 99:720-726. 10.1007/s004390050438, 9187663.
    • (1997) Hum Genet , vol.99 , pp. 720-726
    • Valero, M.C.1    Pascual-Castroviejo, I.2    Velasco, E.3    Moreno, F.4    Hernández-Chico, C.5
  • 9
    • 0027379865 scopus 로고
    • An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes
    • 1682337, 8328449
    • Easton DF, Ponder MA, Huson SM, Ponder BA. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet 1993, 53:305-301. 1682337, 8328449.
    • (1993) Am J Hum Genet , vol.53 , pp. 305-1301
    • Easton, D.F.1    Ponder, M.A.2    Huson, S.M.3    Ponder, B.A.4
  • 11
    • 0036668720 scopus 로고    scopus 로고
    • Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1)
    • 10.1002/gepi.1129, 12214308
    • Szudek J, Joe H, Friedman JM. Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1). Genet Epidemiol 2002, 23:150-164. 10.1002/gepi.1129, 12214308.
    • (2002) Genet Epidemiol , vol.23 , pp. 150-164
    • Szudek, J.1    Joe, H.2    Friedman, J.M.3
  • 12
    • 0037358651 scopus 로고    scopus 로고
    • Patterns of associations of clinical features in neurofibromatosis 1 (NF1)
    • Szudek J, Evans DG, Friedman JM. Patterns of associations of clinical features in neurofibromatosis 1 (NF1). Hum Genet 2003, 112:289-297.
    • (2003) Hum Genet , vol.112 , pp. 289-297
    • Szudek, J.1    Evans, D.G.2    Friedman, J.M.3
  • 14
    • 62249215712 scopus 로고    scopus 로고
    • Neurofibromatosis type 1 and primary hyperparathyroidism with spinal deformity and osteoporosis
    • Bahadir C, Gürleyik G, Ocak E. Neurofibromatosis type 1 and primary hyperparathyroidism with spinal deformity and osteoporosis. Acta Chir Belg 2009, 109:123-125.
    • (2009) Acta Chir Belg , vol.109 , pp. 123-125
    • Bahadir, C.1    Gürleyik, G.2    Ocak, E.3
  • 15
    • 56749139735 scopus 로고    scopus 로고
    • How does the Schwann cell lineage form tumors in NF1?
    • 10.1002/glia.20776, 2652636, 18803326
    • Carroll SL, Ratner N. How does the Schwann cell lineage form tumors in NF1?. Glia 2008, 56:1590-1605. 10.1002/glia.20776, 2652636, 18803326.
    • (2008) Glia , vol.56 , pp. 1590-1605
    • Carroll, S.L.1    Ratner, N.2
  • 16
    • 78650037225 scopus 로고    scopus 로고
    • Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden
    • Thomas L, Kluwe L, Chuzhanova N, Mautner V, Upadhyaya M. Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden. Neurogenetics
    • Neurogenetics
    • Thomas, L.1    Kluwe, L.2    Chuzhanova, N.3    Mautner, V.4    Upadhyaya, M.5
  • 17
    • 78649329027 scopus 로고    scopus 로고
    • Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings
    • Spurlock G, Knight SJ, Thomas N, Kiehl TR, Guha A, Upadhyaya M. Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings. J Cancer Res Clin Oncol
    • J Cancer Res Clin Oncol
    • Spurlock, G.1    Knight, S.J.2    Thomas, N.3    Kiehl, T.R.4    Guha, A.5    Upadhyaya, M.6
  • 20
    • 33846660119 scopus 로고    scopus 로고
    • Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations
    • 10.1038/ncponc0719, 17259933
    • Scott RH, Mansour S, Pritchard-Jones K, Kumar D, MacSweeney F, Rahman N. Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations. Nat Clin Pract Oncol 2007, 4:130-134. 10.1038/ncponc0719, 17259933.
    • (2007) Nat Clin Pract Oncol , vol.4 , pp. 130-134
    • Scott, R.H.1    Mansour, S.2    Pritchard-Jones, K.3    Kumar, D.4    MacSweeney, F.5    Rahman, N.6
  • 21
    • 29144462041 scopus 로고    scopus 로고
    • Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations
    • 10.1007/s10689-005-8351-6, 16341812
    • Bandipalliam P. Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations. Fam Cancer 2005, 4:323-333. 10.1007/s10689-005-8351-6, 16341812.
    • (2005) Fam Cancer , vol.4 , pp. 323-333
    • Bandipalliam, P.1
  • 22
    • 33749504156 scopus 로고    scopus 로고
    • Non-random associations and vascular fields in neurofibromatosis 1: a pathogenetic hypothesis
    • Lubinsky MS. Non-random associations and vascular fields in neurofibromatosis 1: a pathogenetic hypothesis. Am J Med Genet A 2006, 140:2080-2084.
    • (2006) Am J Med Genet A , vol.140 , pp. 2080-2084
    • Lubinsky, M.S.1
  • 23
    • 0033932153 scopus 로고    scopus 로고
    • Two identical triplet sisters carrying a germline BRCA1 gene mutation acquire very similar breast cancer somatic mutations at multiple other sites throughout the genome
    • 10.1002/1098-2264(200008)28:4<359::AID-GCC1>3.0.CO;2-N, 10862044
    • Wistuba II, Tomlinson GE, Behrens C, Virmani A, Geradts J, Blum JL, Minna JD, Gazdar AF. Two identical triplet sisters carrying a germline BRCA1 gene mutation acquire very similar breast cancer somatic mutations at multiple other sites throughout the genome. Genes Chromosomes Cancer 2000, 28:359-369. 10.1002/1098-2264(200008)28:4<359::AID-GCC1>3.0.CO;2-N, 10862044.
    • (2000) Genes Chromosomes Cancer , vol.28 , pp. 359-369
    • Wistuba, I.I.1    Tomlinson, G.E.2    Behrens, C.3    Virmani, A.4    Geradts, J.5    Blum, J.L.6    Minna, J.D.7    Gazdar, A.F.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.