메뉴 건너뛰기




Volumn 66, Issue 1, 2000, Pages 84-91

Mosaicism in von Hippel-Lindau disease: Lessons from kindreds with germline mutations identified in offspring with mosaic parents

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GERM LINE; HUMAN; HUMAN CELL; MALE; MOSAICISM; MULTIPLE CANCER; PARENT; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; PROGENY; SOUTHERN BLOTTING; TUMOR SUPPRESSOR GENE; VON HIPPEL LINDAU DISEASE;

EID: 0033909888     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302726     Document Type: Article
Times cited : (140)

References (28)
  • 2
    • 0028981766 scopus 로고
    • Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype
    • Chen F, Kishida T, Yao M, Hustad T, Glavac D, Dean M, Gnarra JR, et al (1995) Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum Mutat 5:66-75
    • (1995) Hum Mutat , vol.5 , pp. 66-75
    • Chen, F.1    Kishida, T.2    Yao, M.3    Hustad, T.4    Glavac, D.5    Dean, M.6    Gnarra, J.R.7
  • 4
    • 0028938702 scopus 로고
    • Von Hippel-Lindau disease: Genetic, clinical, and imaging features
    • erratum Radiology 196:582
    • Choyke PL, Glenn GM, Walther MM, Patronas NJ, Linehan WM, Zbar B (1995) von Hippel-Lindau disease: genetic, clinical, and imaging features. Radiology 194:629-642 (erratum Radiology 196:582)
    • (1995) Radiology , vol.194 , pp. 629-642
    • Choyke, P.L.1    Glenn, G.M.2    Walther, M.M.3    Patronas, N.J.4    Linehan, W.M.5    Zbar, B.6
  • 5
    • 0032231683 scopus 로고    scopus 로고
    • Somatic mosaicism: A common cause of classic disease in tumor-prone syndromes? lessons from type 2 neurofibromatosis
    • Evans DG, Wallace AJ, Wu CL, Trueman L, Ramsden RT, Strachan T (1998) Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? lessons from type 2 neurofibromatosis. Am J Hum Genet 63:727-736
    • (1998) Am J Hum Genet , vol.63 , pp. 727-736
    • Evans, D.G.1    Wallace, A.J.2    Wu, C.L.3    Trueman, L.4    Ramsden, R.T.5    Strachan, T.6
  • 6
    • 0027433113 scopus 로고
    • Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
    • Ganguly A, Rock MJ, Prockop DJ (1993) Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90:10325-10329
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 7
    • 0025076389 scopus 로고
    • Von Hippel-Lindau disease: Clinical review and molecular genetics
    • Glenn G, Choyke P, Zbar B, Linehan WM (1990) von Hippel-Lindau disease: clinical review and molecular genetics. Probl Urol 4:312-330
    • (1990) Probl Urol , vol.4 , pp. 312-330
    • Glenn, G.1    Choyke, P.2    Zbar, B.3    Linehan, W.M.4
  • 8
    • 0025807163 scopus 로고
    • Von Hippel-Lindau (VHL) disease: Distinct phenotypes suggest more than one mutant allele at the VHL locus
    • Glenn GM, Daniel LN, Choyke P, Linehan WM, Oldfield E, Gorin MB, Hosoe S, et al (1991) von Hippel-Lindau (VHL) disease: distinct phenotypes suggest more than one mutant allele at the VHL locus. Hum Genet 87:207-210
    • (1991) Hum Genet , vol.87 , pp. 207-210
    • Glenn, G.M.1    Daniel, L.N.2    Choyke, P.3    Linehan, W.M.4    Oldfield, E.5    Gorin, M.B.6    Hosoe, S.7
  • 9
    • 0008562012 scopus 로고    scopus 로고
    • New mutations versus silent-carrier parent as source of first generation diagnoses in a hereditary neoplastic disorder: Von Hippel-Lindau disease
    • Glenn G, Stolle C, Sgambati M, Choyke P, Hurley K, Peterson J, Manolatos C, et al (1999) New mutations versus silent-carrier parent as source of first generation diagnoses in a hereditary neoplastic disorder: von Hippel-Lindau disease. Proc Am Assoc Cancer Res 40:464
    • (1999) Proc Am Assoc Cancer Res , vol.40 , pp. 464
    • Glenn, G.1    Stolle, C.2    Sgambati, M.3    Choyke, P.4    Hurley, K.5    Peterson, J.6    Manolatos, C.7
  • 10
    • 0001970663 scopus 로고    scopus 로고
    • A lesson from mosaics: Don't leave the genetics out of molecular genetics
    • Kent-Hirst M (1999) A lesson from mosaics: don't leave the genetics out of molecular genetics. J Natl Inst Health Res 9:29-33
    • (1999) J Natl Inst Health Res , vol.9 , pp. 29-33
    • Kent-Hirst, M.1
  • 11
    • 0031788776 scopus 로고    scopus 로고
    • Mosaicism in sporadic neurofibromatosis 2 patients
    • Kluwe L, Mautner VF (1998) Mosaicism in sporadic neurofibromatosis 2 patients. Hum Mol Genet 7:2051-2055
    • (1998) Hum Mol Genet , vol.7 , pp. 2051-2055
    • Kluwe, L.1    Mautner, V.F.2
  • 14
    • 0028779847 scopus 로고
    • Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father
    • Lazaro C, Ravella A, Gaona A, Volpini V, Estivill X (1994) Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. N Engl J Med 331:1403-1407
    • (1994) N Engl J Med , vol.331 , pp. 1403-1407
    • Lazaro, C.1    Ravella, A.2    Gaona, A.3    Volpini, V.4    Estivill, X.5
  • 18
    • 0031834186 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in von Hippel-Lindau disease
    • Neumann HP, Bender BU (1998) Genotype-phenotype correlations in von Hippel-Lindau disease. J Intern Med 243: 541-545
    • (1998) J Intern Med , vol.243 , pp. 541-545
    • Neumann, H.P.1    Bender, B.U.2
  • 19
    • 0025863170 scopus 로고
    • Clustering of features of von Hippel-Lindau syndrome: Evidence for a complex generic locus
    • Neumann HP, Wiestler OD (1991) Clustering of features of von Hippel-Lindau syndrome: evidence for a complex generic locus. Lancet 337:1052-1054
    • (1991) Lancet , vol.337 , pp. 1052-1054
    • Neumann, H.P.1    Wiestler, O.D.2
  • 20
    • 0033229894 scopus 로고    scopus 로고
    • Constitutional von Hippel-Lindau (VHL) gene deletions detected in VHL families by fluorescence in situ hybridization
    • Pack S, Zbar B, Pak E, Ault DO, Humphrey JS, Pham T, Hurley K, et al (1999) Constitutional von Hippel-Lindau (VHL) gene deletions detected in VHL families by fluorescence in situ hybridization. Cancer Res 59:5560-5564
    • (1999) Cancer Res , vol.59 , pp. 5560-5564
    • Pack, S.1    Zbar, B.2    Pak, E.3    Ault, D.O.4    Humphrey, J.S.5    Pham, T.6    Hurley, K.7
  • 24
    • 7844234770 scopus 로고    scopus 로고
    • Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene
    • Stolle C, Glenn G, Zbar B, Humphrey JS, Choyke P, Walther M, Pack S, et al (1998) Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum Mutat 12:417-423
    • (1998) Hum Mutat , vol.12 , pp. 417-423
    • Stolle, C.1    Glenn, G.2    Zbar, B.3    Humphrey, J.S.4    Choyke, P.5    Walther, M.6    Pack, S.7
  • 25
    • 0023235318 scopus 로고
    • Equal stabilities of normal beta globin and nontranslatable beta0-39 thalassemic transcripts in cell-free extracts
    • Stolle CA, Payne MS, Benz EJJ (1987) Equal stabilities of normal beta globin and nontranslatable beta0-39 thalassemic transcripts in cell-free extracts. Blood 70:293-300
    • (1987) Blood , vol.70 , pp. 293-300
    • Stolle, C.A.1    Payne, M.S.2    Benz, E.J.J.3
  • 27
    • 16144365122 scopus 로고    scopus 로고
    • Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
    • Zbar B, Kishida T, Chen F, Schmidt L, Maher ER, Richards FM, Crossey PA, et al (1996) Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat 8:348-357
    • (1996) Hum Mutat , vol.8 , pp. 348-357
    • Zbar, B.1    Kishida, T.2    Chen, F.3    Schmidt, L.4    Maher, E.R.5    Richards, F.M.6    Crossey, P.A.7
  • 28
    • 0031946632 scopus 로고    scopus 로고
    • Germ line mosaicism
    • Zlotogora J (1998) Germ line mosaicism. Hum Genet 102: 381-386
    • (1998) Hum Genet , vol.102 , pp. 381-386
    • Zlotogora, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.