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Volumn 5, Issue , 2006, Pages

Somatic deletion of the NFI gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR

Author keywords

[No Author keywords available]

Indexed keywords

FORMALDEHYDE; NEUROFIBROMIN; DNA; MICROSATELLITE DNA;

EID: 33748986055     PISSN: 14764598     EISSN: 14764598     Source Type: Journal    
DOI: 10.1186/1476-4598-5-36     Document Type: Article
Times cited : (14)

References (44)
  • 2
    • 12444334564 scopus 로고    scopus 로고
    • Prevalence of neurofibromatosis 1 in German children at elementary school enrollment
    • Lammert M, Friedman JM, Kluwe L, Mautner VF: Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol 2005, 141:71-74.
    • (2005) Arch Dermatol , vol.141 , pp. 71-74
    • Lammert, M.1    Friedman, J.M.2    Kluwe, L.3    Mautner, V.F.4
  • 4
    • 0027468594 scopus 로고
    • Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis
    • Legius E, Marchuk DA, Collins FS, Glover TW: Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet 1993, 3:122-126.
    • (1993) Nat Genet , vol.3 , pp. 122-126
    • Legius, E.1    Marchuk, D.A.2    Collins, F.S.3    Glover, T.W.4
  • 6
    • 0034639937 scopus 로고    scopus 로고
    • Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1
    • Rutkowski JL, Wu K, Gutmann DH, Boyer PJ, Legius E: Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1. Hum Mol Genet 2000, 9:1059-1066.
    • (2000) Hum Mol Genet , vol.9 , pp. 1059-1066
    • Rutkowski, J.L.1    Wu, K.2    Gutmann, D.H.3    Boyer, P.J.4    Legius, E.5
  • 9
    • 0035742712 scopus 로고    scopus 로고
    • Epidemiology of cutaneous melanoma in Germany and worldwide
    • Garbe C, Blum A: Epidemiology of cutaneous melanoma in Germany and worldwide. Skin Pharmacol Appl Skin Physiol 2001, 14:280-290.
    • (2001) Skin Pharmacol Appl Skin Physiol , vol.14 , pp. 280-290
    • Garbe, C.1    Blum, A.2
  • 12
    • 0033757791 scopus 로고    scopus 로고
    • Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma
    • Gutzmer R, Herbst RA, Mommert S, Kiehl P, Matiaske F, Rutten A, Kapp A, Weiss J: Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma. Hum Genet 2000, 107:357-361.
    • (2000) Hum Genet , vol.107 , pp. 357-361
    • Gutzmer, R.1    Herbst, R.A.2    Mommert, S.3    Kiehl, P.4    Matiaske, F.5    Rutten, A.6    Kapp, A.7    Weiss, J.8
  • 14
    • 4344715771 scopus 로고    scopus 로고
    • Multilineage progression of genetically unstable tumor subclones in cutaneous T-cell lymphoma
    • Rübben A, Kempf W, Kadin ME, Zimmermann DR, Burg G: Multilineage progression of genetically unstable tumor subclones in cutaneous T-cell lymphoma. Exp Dermatol 2004, 13:472-483.
    • (2004) Exp Dermatol , vol.13 , pp. 472-483
    • Rübben, A.1    Kempf, W.2    Kadin, M.E.3    Zimmermann, D.R.4    Burg, G.5
  • 17
    • 0032712537 scopus 로고    scopus 로고
    • Loss of heterozygosity in tumor cells requires re-evaluation: The data are biased by the size-dependent differential sensitivity of allele detection
    • Liu J, Zabarovska VI, Braga E, Alimov A, Klein G, Zabarovsky ER: Loss of heterozygosity in tumor cells requires re-evaluation: the data are biased by the size-dependent differential sensitivity of allele detection. FEBS Lett 1999, 462:121-128.
    • (1999) FEBS Lett , vol.462 , pp. 121-128
    • Liu, J.1    Zabarovska, V.I.2    Braga, E.3    Alimov, A.4    Klein, G.5    Zabarovsky, E.R.6
  • 18
    • 0036673915 scopus 로고    scopus 로고
    • Loss of heterozygosity studies revisited: Prior quantification of the amplifiable DNA content of archival samples improves efficiency and reliability
    • Farrand K, Jovanovic L, Delahunt B, McIver B, Hay ID, Eberhardt NL, Grebe SK: Loss of heterozygosity studies revisited: prior quantification of the amplifiable DNA content of archival samples improves efficiency and reliability. J Mol Diagn 2002, 4:150-158.
    • (2002) J Mol Diagn , vol.4 , pp. 150-158
    • Farrand, K.1    Jovanovic, L.2    Delahunt, B.3    McIver, B.4    Hay, I.D.5    Eberhardt, N.L.6    Grebe, S.K.7
  • 19
    • 0023885121 scopus 로고
    • Neurofibromatosis conference statement
    • National Institutes of Health Consensus Development Conference
    • National Institutes of Health Consensus Development Conference: Neurofibromatosis conference statement. Arch Neurol 1988, 45:575-578.
    • (1988) Arch Neurol , vol.45 , pp. 575-578
  • 21
    • 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 LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD: 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, 15:541-55.
    • (2000) Hum Mutat , vol.15 , pp. 541-555
    • Messiaen, L.M.1    Callens, T.2    Mortier, G.3    Beysen, D.4    Vandenbroucke, I.5    Van Roy, N.6    Speleman, F.7    Paepe, A.D.8
  • 24
    • 0347762809 scopus 로고    scopus 로고
    • Principle and applications of digital PCR
    • Pohl G, Shih IM: Principle and applications of digital PCR. Expert Rev Mol Diagn 2004, 4:41-47.
    • (2004) Expert Rev Mol Diagn , vol.4 , pp. 41-47
    • Pohl, G.1    Shih, I.M.2
  • 25
    • 0015043748 scopus 로고
    • Mutation and cancer: Statistical study of retinoblastoma
    • Knudson AGJr: Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971, 68:820-823.
    • (1971) Proc Natl Acad Sci USA , vol.68 , pp. 820-823
    • Knudson Jr., A.G.1
  • 27
    • 33645725190 scopus 로고    scopus 로고
    • Cafe-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: Hyperpigmentation of a different kind?
    • De Schepper S, Boucneau J, Vander Haeghen Y, Messiaen L, Naeyaert JM, Lambert J: Cafe-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind? Arch Dermatol Res 2006, 297:439-449.
    • (2006) Arch Dermatol Res , vol.297 , pp. 439-449
    • De Schepper, S.1    Boucneau, J.2    Vander Haeghen, Y.3    Messiaen, L.4    Naeyaert, J.M.5    Lambert, J.6
  • 28
    • 0025831953 scopus 로고
    • Increased melanogenesis in cultured epidermal melanocytes from patients with neurofibromatosis 1 (NF 1)
    • Kaufmann D, Wiandt S, Veser J, Krone W: Increased melanogenesis in cultured epidermal melanocytes from patients with neurofibromatosis 1 (NF 1). Hum Genet 1991, 87:144-150.
    • (1991) Hum Genet , vol.87 , pp. 144-150
    • Kaufmann, D.1    Wiandt, S.2    Veser, J.3    Krone, W.4
  • 29
    • 0031559586 scopus 로고    scopus 로고
    • Evidence for the presence of the second allele of the neurofibromatosis type 1 gene in melanocytes derived from cafe au lait macules of NF1 patients
    • Eisenbarth I, Assum G, Kaufmann D, Krone W: Evidence for the presence of the second allele of the neurofibromatosis type 1 gene in melanocytes derived from cafe au lait macules of NF1 patients. Biochem Biophys Res Commun 1997, 237:138-141.
    • (1997) Biochem Biophys Res Commun , vol.237 , pp. 138-141
    • Eisenbarth, I.1    Assum, G.2    Kaufmann, D.3    Krone, W.4
  • 30
    • 0029863673 scopus 로고    scopus 로고
    • Distinct stages of melanocyte differentiation revealed by anlaysis of nonuniform pigmentation patterns
    • Yoshida H, Kunisada T, Kusakabe M, Nishikawa S, Nishikawa SI: Distinct stages of melanocyte differentiation revealed by anlaysis of nonuniform pigmentation patterns. Development 1996, 122:1207-1214.
    • (1996) Development , vol.122 , pp. 1207-1214
    • Yoshida, H.1    Kunisada, T.2    Kusakabe, M.3    Nishikawa, S.4    Nishikawa, S.I.5
  • 31
    • 0036637695 scopus 로고    scopus 로고
    • Neural crest progenitors of the melanocyte lineage: Coat colour patterns revisited
    • Wilkie AL, Jordan SA, Jackson IJ: Neural crest progenitors of the melanocyte lineage: coat colour patterns revisited. Development 2002, 129:3349-3357.
    • (2002) Development , vol.129 , pp. 3349-3357
    • Wilkie, A.L.1    Jordan, S.A.2    Jackson, I.J.3
  • 33
    • 0024454459 scopus 로고
    • Nevomelanocytic proliferations in association with cutaneous malignant melanoma: A multivariate analysis
    • Gruber SB, Barnhill RL, Stenn KS, Roush GC: Nevomelanocytic proliferations in association with cutaneous malignant melanoma: a multivariate analysis. J Am Acad Dermatol 1989, 21:773-780.
    • (1989) J Am Acad Dermatol , vol.21 , pp. 773-780
    • Gruber, S.B.1    Barnhill, R.L.2    Stenn, K.S.3    Roush, G.C.4
  • 34
    • 0026072014 scopus 로고
    • The origin of epidermal melanocytes. Implications for the histogenesis of nevi and melanomas
    • Cramer SF: The origin of epidermal melanocytes. Implications for the histogenesis of nevi and melanomas. Arch Pathol Lab Med 1991, 115:115-119.
    • (1991) Arch Pathol Lab Med , vol.115 , pp. 115-119
    • Cramer, S.F.1
  • 35
    • 25644451156 scopus 로고    scopus 로고
    • Nevogenesis - New thoughts regarding a classical problem
    • Krengel S: Nevogenesis - new thoughts regarding a classical problem. Am J Dermatopathol 2005, 27:456-465.
    • (2005) Am J Dermatopathol , vol.27 , pp. 456-465
    • Krengel, S.1
  • 36
    • 0021686593 scopus 로고
    • The histogenesis of acquired melanocytic nevi. Based on a new concept of melanocytic differentiation
    • Cramer SF: The histogenesis of acquired melanocytic nevi. Based on a new concept of melanocytic differentiation. Am J Dermatopathol 1984, 6 Suppl:289-298.
    • (1984) Am J Dermatopathol , vol.6 , Issue.SUPPL. , pp. 289-298
    • Cramer, S.F.1
  • 38
    • 17144401879 scopus 로고    scopus 로고
    • Cutaneous desmoplastic melanoma
    • Busam KJ: Cutaneous desmoplastic melanoma. Adv Anat Pathol 2005, 12:92-102.
    • (2005) Adv Anat Pathol , vol.12 , pp. 92-102
    • Busam, K.J.1
  • 39


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.