메뉴 건너뛰기




Volumn 6, Issue 8, 1997, Pages 1241-1250

Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GASTRIN RELEASING PEPTIDE; HORMONE RECEPTOR; PROTEOHEPARAN SULFATE; SYNDECAN;

EID: 0030795260     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.8.1241     Document Type: Article
Times cited : (105)

References (59)
  • 4
    • 0024369122 scopus 로고
    • Autism diagnostic observation schedule: A standardized observation of communicative and social behaviour
    • Lord, C., Rutter, M., Goode, S., Heemsbergen, J., Jordan, H., Mawhood, L. and Schopler, E. (1989) Autism diagnostic observation schedule: a standardized observation of communicative and social behaviour. J. Autism Dev. Disord., 19, 185-212.
    • (1989) J. Autism Dev. Disord. , vol.19 , pp. 185-212
    • Lord, C.1    Rutter, M.2    Goode, S.3    Heemsbergen, J.4    Jordan, H.5    Mawhood, L.6    Schopler, E.7
  • 6
    • 0014871959 scopus 로고
    • Autistic children: Infancy to adulthood
    • Rutter, M. (1970) Autistic children: infancy to adulthood. Semin. Psychiatr., 2, 435-450.
    • (1970) Semin. Psychiatr. , vol.2 , pp. 435-450
    • Rutter, M.1
  • 8
    • 0017530988 scopus 로고
    • Infantile autism: A genetic study of 21 twin pairs
    • Folstein, S. and Rutter, M. (1977) Infantile autism: a genetic study of 21 twin pairs. J. Child Psychol. Psychiatr., 18, 297-321.
    • (1977) J. Child Psychol. Psychiatr. , vol.18 , pp. 297-321
    • Folstein, S.1    Rutter, M.2
  • 10
  • 11
    • 0025019555 scopus 로고
    • Linkage strategies for genetically complex traits I. Multilocus models
    • Risch, N. (1990) Linkage strategies for genetically complex traits I. Multilocus models. Am. J. Hum. Genet., 46, 222-228.
    • (1990) Am. J. Hum. Genet. , vol.46 , pp. 222-228
    • Risch, N.1
  • 14
    • 0027317279 scopus 로고
    • The biology of autism
    • Bailey, A. (1993) The biology of autism. Psychol. Med., 23, 7-11.
    • (1993) Psychol. Med. , vol.23 , pp. 7-11
    • Bailey, A.1
  • 17
    • 0022397472 scopus 로고
    • Partial trisomy 6p and partial monosomy 9p from a de novo translocation 46,XY,-9,+der(9)t(6:9)(p21:p24)
    • Eden, M.S., Thelin, J.W., Michalski, K. and Mitchel, J.A. (1985) Partial trisomy 6p and partial monosomy 9p from a de novo translocation 46,XY,-9,+der(9)t(6:9)(p21:p24). Clinic. Genet., 28, 375-384.
    • (1985) Clinic. Genet. , vol.28 , pp. 375-384
    • Eden, M.S.1    Thelin, J.W.2    Michalski, K.3    Mitchel, J.A.4
  • 22
    • 0027304995 scopus 로고
    • Abnormalities of chromosome 18 in a girl with mental retardation and autistic disorder
    • Ghaziuddin, M., Sheldon, S., Tsai, L.Y. and Alessi, N. (1993) Abnormalities of chromosome 18 in a girl with mental retardation and autistic disorder. J Intellectual Disability Res., 37, 313-317.
    • (1993) J Intellectual Disability Res. , vol.37 , pp. 313-317
    • Ghaziuddin, M.1    Sheldon, S.2    Tsai, L.Y.3    Alessi, N.4
  • 23
    • 0027968086 scopus 로고
    • Case reports of autism with interstitial deletion of chromosome 17 (p11.2 p11.2) and monosomy of chromosome 5 (5pter→5p15.3)
    • Vostanis, P., Harrington, R., Prendergast, M. and Farndon, P. (1994) Case reports of autism with interstitial deletion of chromosome 17 (p11.2 p11.2) and monosomy of chromosome 5 (5pter→5p15.3). Psychiatr, Genet., 4, 109-111.
    • (1994) Psychiatr, Genet. , vol.4 , pp. 109-111
    • Vostanis, P.1    Harrington, R.2    Prendergast, M.3    Farndon, P.4
  • 24
    • 0027964499 scopus 로고
    • Molecular cytogenetic analysis of a duplication Xp in a male: Further delineation of a possible sex influencing region on the X chromosome
    • Rao, P.N., Klinepeter, K., Stewart, W., Hayworth, R., Grubs, R. and Pettenati, M.J. (1994) Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome. Hum. Genet., 94, 149-153.
    • (1994) Hum. Genet. , vol.94 , pp. 149-153
    • Rao, P.N.1    Klinepeter, K.2    Stewart, W.3    Hayworth, R.4    Grubs, R.5    Pettenati, M.J.6
  • 30
    • 0028917663 scopus 로고
    • Hereditary multiple exostosis and chondrosarcoma: Linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8
    • Hecht, J.T., Hogue, D., Strong, L.C., Hansen, M.F., Blanton, S.H. and Wagner, M. (1995) Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8. Am J. Hum. Genet., 56, 1125-1131.
    • (1995) Am J. Hum. Genet. , vol.56 , pp. 1125-1131
    • Hecht, J.T.1    Hogue, D.2    Strong, L.C.3    Hansen, M.F.4    Blanton, S.H.5    Wagner, M.6
  • 31
    • 0028058036 scopus 로고
    • Mapping of the 8q23 translocation breakpoint of t(8;13) observed in a patient with multiple exostoses
    • Yoshiura, K., Inazawa, J., Koyama, K., Nakamura, Y. and Niikawa, N. (1994) Mapping of the 8q23 translocation breakpoint of t(8;13) observed in a patient with multiple exostoses. Genes, Chromosomes Cancer, 9, 57-61.
    • (1994) Genes, Chromosomes Cancer , vol.9 , pp. 57-61
    • Yoshiura, K.1    Inazawa, J.2    Koyama, K.3    Nakamura, Y.4    Niikawa, N.5
  • 32
    • 0025897085 scopus 로고
    • Yeast artificial chromosome libraries containing large inserts from mouse and human DNA
    • Larin, Z., Monaco, A.P. and Lehrach, H. (1991) Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proc. Natl Acad. Sci. USA, 88, 4123-4127.
    • (1991) Proc. Natl Acad. Sci. USA , vol.88 , pp. 4123-4127
    • Larin, Z.1    Monaco, A.P.2    Lehrach, H.3
  • 34
    • 0028942620 scopus 로고
    • A 6-Mb YAC contig in Xp22.1-Xp22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3 and PHKA2 genes
    • Alitalo, T., Francis, F., Kere, J., Lehrach, H., Schlessinger, D. and Willard, H.F. (1995) A 6-Mb YAC contig in Xp22.1-Xp22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3 and PHKA2 genes. Genomics, 25, 691-700.
    • (1995) Genomics , vol.25 , pp. 691-700
    • Alitalo, T.1    Francis, F.2    Kere, J.3    Lehrach, H.4    Schlessinger, D.5    Willard, H.F.6
  • 37
    • 0027860527 scopus 로고
    • Epigenetic and chromosomal control of gene expression: Molecular and genetic analysis of X chromosome inactivation
    • Willard, H.F., Brown, C.J., Carrel, L., Hendrich, B. and Miller, A.P. (1993) Epigenetic and chromosomal control of gene expression: molecular and genetic analysis of X chromosome inactivation. Cold Spring Harbor Symp. Quant. Biol., 58, 315-322.
    • (1993) Cold Spring Harbor Symp. Quant. Biol. , vol.58 , pp. 315-322
    • Willard, H.F.1    Brown, C.J.2    Carrel, L.3    Hendrich, B.4    Miller, A.P.5
  • 39
    • 0024507583 scopus 로고
    • Partial primary structure of the 48- and 90-kilodalton core proteins of cell surface-associated heparan sulfate proteoglycans of lung fibroblasts
    • Marynen, P., Zhang, J., Cassiman, J.-J., Van den Berghe, H. and David, G. (1989) Partial primary structure of the 48- and 90-kilodalton core proteins of cell surface-associated heparan sulfate proteoglycans of lung fibroblasts. J. Biol. Chem., 264, 7017-7024.
    • (1989) J. Biol. Chem. , vol.264 , pp. 7017-7024
    • Marynen, P.1    Zhang, J.2    Cassiman, J.-J.3    Van Den Berghe, H.4    David, G.5
  • 41
    • 0023244963 scopus 로고
    • A family of receptors coupled to guanine-nucleotide regulatory proteins
    • Dohlman, H.G., Caron, M.G. and Lefkowitz, R.J. (1987) A family of receptors coupled to guanine-nucleotide regulatory proteins. Biochemistry, 26, 2657-2663.
    • (1987) Biochemistry , vol.26 , pp. 2657-2663
    • Dohlman, H.G.1    Caron, M.G.2    Lefkowitz, R.J.3
  • 42
    • 0022575168 scopus 로고
    • Two prohormones for gastrin-releasing peptide are encoded by two mRNAs differing by 19 nucleotides
    • Spindel, E.R., Zilberberg, M.D., Habener, J.F. and Chin, W.W. (1986) Two prohormones for gastrin-releasing peptide are encoded by two mRNAs differing by 19 nucleotides. Proc. Natl Acad. Sci. USA, 83, 19-23.
    • (1986) Proc. Natl Acad. Sci. USA , vol.83 , pp. 19-23
    • Spindel, E.R.1    Zilberberg, M.D.2    Habener, J.F.3    Chin, W.W.4
  • 43
    • 0028429179 scopus 로고
    • Simultaneous detection of messenger ribonucleic acids for bombesin/gastrin-releasing peptide and its receptor in rat brain by nonradiolabeled double in situ hybridization
    • Wang, D. and Cutz, E. (1994) Simultaneous detection of messenger ribonucleic acids for bombesin/gastrin-releasing peptide and its receptor in rat brain by nonradiolabeled double in situ hybridization. Lab. Invest., 70, 775-780.
    • (1994) Lab. Invest. , vol.70 , pp. 775-780
    • Wang, D.1    Cutz, E.2
  • 44
    • 0026032388 scopus 로고
    • cDNA cloning, characterization and brain region-specific expression of a neuromedin-β-preferring bombesin receptor
    • Wada, E., Way, J., Shipira, H., Kusano, K., Lebacq-Verheyden, A., Coy, D., Jensen, R. and Battery, J. (1991) cDNA cloning, characterization and brain region-specific expression of a neuromedin-β-preferring bombesin receptor. Neuron, 6, 421-430.
    • (1991) Neuron , vol.6 , pp. 421-430
    • Wada, E.1    Way, J.2    Shipira, H.3    Kusano, K.4    Lebacq-Verheyden, A.5    Coy, D.6    Jensen, R.7    Battery, J.8
  • 45
    • 0019932848 scopus 로고
    • Differential expression of steroid sulphatase locus on active and inactive human X chromosome
    • Migeon, B.R., Shapiro, L.J., Norum, R.A., Mohandas, T., Axelman, J. and Dabora, R.L. (1982) Differential expression of steroid sulphatase locus on active and inactive human X chromosome. Nature, 299, 838-840.
    • (1982) Nature , vol.299 , pp. 838-840
    • Migeon, B.R.1    Shapiro, L.J.2    Norum, R.A.3    Mohandas, T.4    Axelman, J.5    Dabora, R.L.6
  • 46
    • 0031046285 scopus 로고    scopus 로고
    • Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements
    • Lee, M.P., Hu, R.-J., Johnson, L.A. and Feinberg, A.P. (1997) Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nature Genet., 15, 181-185.
    • (1997) Nature Genet. , vol.15 , pp. 181-185
    • Lee, M.P.1    Hu, R.-J.2    Johnson, L.A.3    Feinberg, A.P.4
  • 47
    • 0027378157 scopus 로고
    • Spatial and temporal changes in the expression of fibroglycan (Syndecan-2) during mouse embryonic development
    • David, G., Bai, X.M., Van der Schueren, B., Marynen, P., Cassiman, J.-J. and Van den Berghe, H. (1993) Spatial and temporal changes in the expression of fibroglycan (Syndecan-2) during mouse embryonic development. Development, 119, 841-854.
    • (1993) Development , vol.119 , pp. 841-854
    • David, G.1    Bai, X.M.2    Van Der Schueren, B.3    Marynen, P.4    Cassiman, J.-J.5    Van Den Berghe, H.6
  • 48
    • 0025328918 scopus 로고
    • Transient expression of a cell surface heparan sulfate proteoglycan (Syndecan) during limb development
    • Solursh, M., Reiter, R.S., Jensen, K.L., Kato, M. and Bernfield, M. (1990) Transient expression of a cell surface heparan sulfate proteoglycan (Syndecan) during limb development. Dev. Biol., 140, 83-92.
    • (1990) Dev. Biol. , vol.140 , pp. 83-92
    • Solursh, M.1    Reiter, R.S.2    Jensen, K.L.3    Kato, M.4    Bernfield, M.5
  • 51
    • 0026345290 scopus 로고
    • Construction, arraying and high density screening of large insert cosmid libraries of the human chromosomes X and 21
    • Nizetic, D., Zehetner, G., Monaco, A.P., Gellen, L., Young, B.D. and Lehrach, H. (1991) Construction, arraying and high density screening of large insert cosmid libraries of the human chromosomes X and 21. Proc. Natl Acad. Sci. USA, 88, 3233-3237.
    • (1991) Proc. Natl Acad. Sci. USA , vol.88 , pp. 3233-3237
    • Nizetic, D.1    Zehetner, G.2    Monaco, A.P.3    Gellen, L.4    Young, B.D.5    Lehrach, H.6
  • 53
    • 0026864615 scopus 로고
    • An optimized Alu-PCR primer pair for human specific amplification of YACs somatic cell hybrid
    • Tagle, D. and Collins, S. (1992) An optimized Alu-PCR primer pair for human specific amplification of YACs somatic cell hybrid. Hum. mol. Genet., 1, 121-122.
    • (1992) Hum. Mol. Genet. , vol.1 , pp. 121-122
    • Tagle, D.1    Collins, S.2
  • 54
    • 0025737774 scopus 로고
    • Mapping irradiation hybrids to cosmid and yeast artificial chromosome libraries by direct hybridization of Alu-PCR products
    • Monaco, A.P., Lam, V.M.S., Zehetner, G., Lennon, G.G., Douglas, C., Nizetic, D., Goodfellow, P.N. and Lehrach, H. (1991) Mapping irradiation hybrids to cosmid and yeast artificial chromosome libraries by direct hybridization of Alu-PCR products. Nucleic Acids Res., 19, 3315-3318.
    • (1991) Nucleic Acids Res. , vol.19 , pp. 3315-3318
    • Monaco, A.P.1    Lam, V.M.S.2    Zehetner, G.3    Lennon, G.G.4    Douglas, C.5    Nizetic, D.6    Goodfellow, P.N.7    Lehrach, H.8
  • 55
    • 0020793569 scopus 로고
    • A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity
    • Feinberg, A.P. and Vogelstein, B. (1983) A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem., 132, 6-13.
    • (1983) Anal. Biochem. , vol.132 , pp. 6-13
    • Feinberg, A.P.1    Vogelstein, B.2
  • 58
    • 0026351408 scopus 로고
    • Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach
    • Uberbacher, E.E. and Mural, R.J. (1991) Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Nutl Acad. Sci. USA, 88, 11261-11265.
    • (1991) Proc. Nutl Acad. Sci. USA , vol.88 , pp. 11261-11265
    • Uberbacher, E.E.1    Mural, R.J.2
  • 59
    • 0027399530 scopus 로고
    • Identification of protein coding regions by database similarity search
    • Gish, W. and States, D. (1993) Identification of protein coding regions by database similarity search. Nature Genet., 3, 266-272.
    • (1993) Nature Genet. , vol.3 , pp. 266-272
    • Gish, W.1    States, D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.