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Volumn 110, Issue 4, 2002, Pages 314-321

Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region

Author keywords

[No Author keywords available]

Indexed keywords

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; BACTERIOPHAGE P1 ARTIFICIAL CHROMOSOME; CHIMPANZEE; CHROMOSOME 17Q; CHROMOSOME 17Q11.2; CHROMOSOME DUPLICATION; DNA FLANKING REGION; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE CONVERSION; GENE DUPLICATION; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE PROBE; GENE SEQUENCE; GENETIC ORGANIZATION; GORILLA; HUMAN; NEUROFIBROMATOSIS TYPE 1 GENE; NONHUMAN; ORTHOLOGY; PRIORITY JOURNAL; PROMOTER REGION; TANDEM REPEAT;

EID: 0036556292     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0704-8     Document Type: Article
Times cited : (12)

References (34)
  • 1
    • 0028968703 scopus 로고
    • Comparative mapping of human alphoid sequences in great apes using fluorescence in situ hybridization
    • Archidiacono N, Antonacci R, Marzella R, Finelli P, Lonoce A, Rocchi M (1995) Comparative mapping of human alphoid sequences in great apes using fluorescence in situ hybridization. Genomics 25:477-484
    • (1995) Genomics , vol.25 , pp. 477-484
    • Archidiacono, N.1    Antonacci, R.2    Marzella, R.3    Finelli, P.4    Lonoce, A.5    Rocchi, M.6
  • 2
    • 0034897565 scopus 로고    scopus 로고
    • Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fiber
    • Bentivegna A, Venturin M, Gervasini C, Corrado L, Larizza L, Riva P (2001a) Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fiber. Hum Genet 109:48-54
    • (2001) Hum Genet , vol.109 , pp. 48-54
    • Bentivegna, A.1    Venturin, M.2    Gervasini, C.3    Corrado, L.4    Larizza, L.5    Riva, P.6
  • 3
    • 0035057414 scopus 로고    scopus 로고
    • FISH with locus-specific probes on stretched chromosomes: A useful tool for genome organization studies
    • Bentivegna A, Venturin M, Gervasini C, Corrado L, Larizza L, Riva P (2001b) FISH with locus-specific probes on stretched chromosomes: A useful tool for genome organization studies. Chromosom Res 9:167-170
    • (2001) Chromosom Res , vol.9 , pp. 167-170
    • Bentivegna, A.1    Venturin, M.2    Gervasini, C.3    Corrado, L.4    Larizza, L.5    Riva, P.6
  • 5
    • 0032971379 scopus 로고    scopus 로고
    • Large genomic duplicons map sites of instability in the Prader-Willi/Angelman syndrome chromosome region
    • Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH (1999) Large genomic duplicons map sites of instability in the Prader-Willi/Angelman syndrome chromosome region. Hum Mol Genet 8:1025-1037
    • (1999) Hum Mol Genet , vol.8 , pp. 1025-1037
    • Christian, S.L.1    Fantes, J.A.2    Mewborn, S.K.3    Huang, B.4    Ledbetter, D.H.5
  • 7
    • 0033358588 scopus 로고    scopus 로고
    • Low copy repeats mediated the comon 3-Mb deletion in patients with velo-cardio-facial syndrome
    • Edelmann L, Pandita RK, Morrow BE (1999) Low copy repeats mediated the comon 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet 64:1076-1086
    • (1999) Am J Hum Genet , vol.64 , pp. 1076-1086
    • Edelmann, L.1    Pandita, R.K.2    Morrow, B.E.3
  • 9
    • 0028174765 scopus 로고
    • Structural analysis of alpha-satellite DNA and centromere proteins using extended chromatin and chromosomes
    • Haaf T, Ward DC (1994) Structural analysis of alpha-satellite DNA and centromere proteins using extended chromatin and chromosomes. Hum Mol Genet 3:697-709
    • (1994) Hum Mol Genet , vol.3 , pp. 697-709
    • Haaf, T.1    Ward, D.C.2
  • 10
    • 0023623002 scopus 로고
    • Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia
    • Harada F, Kimura A, Iwanaga T, Shimozawa K, Yata J, Sasazuki T (1987) Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia. Proc Natl Acad Sci USA 84:8091-8094
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 8091-8094
    • Harada, F.1    Kimura, A.2    Iwanaga, T.3    Shimozawa, K.4    Yata, J.5    Sasazuki, T.6
  • 11
    • 0002928373 scopus 로고
    • Neurofibromatosis 1: A clinical and genetic overview
    • In: Huson SM, Huges RAC (eds); Chapman and Hall Medical, London
    • Huson SM, Huges RAC (1994) Neurofibromatosis 1: A clinical and genetic overview. In: Huson SM, Huges RAC (eds) The Neurobibromatoses: A pathogenetic and clinical overview. Chapman and Hall Medical, London, pp 160-203
    • (1994) The Neurobibromatoses: A Pathogenetic and Clinical Overview , pp. 160-203
    • Huson, S.M.1    Huges, R.A.C.2
  • 12
    • 0034892401 scopus 로고    scopus 로고
    • Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions
    • Jenne DE, Tinschert S, Reimann H, Lasinger W, Thiel G, Hameister H, Kehrer-Sawatzki H (2001) Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Am J Hum Genet 69:516-527
    • (2001) Am J Hum Genet , vol.69 , pp. 516-527
    • Jenne, D.E.1    Tinschert, S.2    Reimann, H.3    Lasinger, W.4    Thiel, G.5    Hameister, H.6    Kehrer-Sawatzki, H.7
  • 13
    • 0032580152 scopus 로고    scopus 로고
    • A molecular timescale for vertebrate evolution
    • Kumar S, Hedges SB (1998) A molecular timescale for vertebrate evolution. Nature 392:917-920
    • (1998) Nature , vol.392 , pp. 917-920
    • Kumar, S.1    Hedges, S.B.2
  • 14
    • 0027434880 scopus 로고
    • A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene
    • Lazaro C, Gaona A, Xu G, Weiss R, Estivill X (1993) A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene. Hum Genet 92:429-430
    • (1993) Hum Genet , vol.92 , pp. 429-430
    • Lazaro, C.1    Gaona, A.2    Xu, G.3    Weiss, R.4    Estivill, X.5
  • 15
    • 0028013195 scopus 로고
    • Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene
    • Lazaro C, Gaona A, Estivill X (1994) Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene. Hum Genet 93:351-352
    • (1994) Hum Genet , vol.93 , pp. 351-352
    • Lazaro, C.1    Gaona, A.2    Estivill, X.3
  • 21
    • 0031731487 scopus 로고    scopus 로고
    • Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
    • Lupsky JR (1998) Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417-422
    • (1998) Trends Genet , vol.14 , pp. 417-422
    • Lupsky, J.R.1
  • 24
    • 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 (2000) Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 200:15:541-555
    • (2000) Hum Mutat , vol.200 , Issue.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
  • 25
    • 0031782618 scopus 로고    scopus 로고
    • Alternative splicing of exon 29 and 30 in the neurofibromatosis type 1 gene
    • Park VM, Kenwright KA, Sturtevant DB, Pivnick EK (1998) Alternative splicing of exon 29 and 30 in the neurofibromatosis type 1 gene. Hum Genet 103:382-385
    • (1998) Hum Genet , vol.103 , pp. 382-385
    • Park, V.M.1    Kenwright, K.A.2    Sturtevant, D.B.3    Pivnick, E.K.4
  • 28
    • 0031876598 scopus 로고    scopus 로고
    • A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications
    • Ritchie RJ, Mattei MG, Lalande M (1998) A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications. Hum Mol Genet 7:1253-1260
    • (1998) Hum Mol Genet , vol.7 , pp. 1253-1260
    • Ritchie, R.J.1    Mattei, M.G.2    Lalande, M.3
  • 29
    • 0003755772 scopus 로고    scopus 로고
    • A rapid and simple method of generating locus-specific probes for FISH analysis
    • T01618
    • Riva P, Corrado L, Colapietro P, Larizza L (1999) Technical Tips Online (http://tto.trends.com) T01618
    • (1999)
    • Riva, P.1    Corrado, L.2    Colapietro, P.3    Larizza, L.4
  • 31
    • 25544453751 scopus 로고    scopus 로고
    • Improved protocol for the preparation of chromatin fibers from fixed cells
    • T01123
    • Speleman F, Van Gele M, Maertens L, Van Roy N (1997) Improved protocol for the preparation of chromatin fibers from fixed cells. Technical Tips Online (http://tto.trends.com) T01123
    • (1997)
    • Speleman, F.1    Van Gele, M.2    Maertens, L.3    Van Roy, N.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.