메뉴 건너뛰기




Volumn 2001, Issue 411, 2001, Pages 63-70

Translocation (3;12) (p21-pter; q24.1-qter) and phenylketonuria

Author keywords

Mental retardation; Phenylketonuria; Translocation (3; 12)

Indexed keywords

ARTICLE; AUTOSOME; CASE REPORT; CHILD; CHROMOSOME BANDING PATTERN; FEMALE; GENE TRANSLOCATION; GENETICS; HUMAN; HUMAN CHROMOSOME; KARYOTYPING; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; PEDIGREE; PHENOTYPE; PHENYLKETONURIA;

EID: 0035230912     PISSN: 00114529     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (1)

References (34)
  • 1
    • 84911688103 scopus 로고
    • Two human homologues to a new retroviral oncogene raf-1 and raf-2 are assigned to human chromosomes 3 and 4, respectively
    • BONNER T. I., Rapp U. R., Nash W. G. and O'Brien S. J. 1984. Two human homologues to a new retroviral oncogene raf-1 and raf-2 are assigned to human chromosomes 3 and 4, respectively. Cytogenet. Cell Genet. 37 424.
    • (1984) Cytogenet. Cell Genet. , vol.37 , pp. 424
    • Bonner, T.I.1    Rapp, U.R.2    Nash, W.G.3    O'Brien, S.J.4
  • 2
    • 0021211670 scopus 로고
    • Human chromosomal mapping of genes for insulin-like growth factors I & II and epidermal growth factor
    • BRISSENDEN J. E., Uttrich A. and Francke U. 1984. Human chromosomal mapping of genes for insulin-like growth factors I & II and epidermal growth factor. Nature 310 781-4.
    • (1984) Nature , vol.310 , pp. 781-784
    • Brissenden, J.E.1    Uttrich, A.2    Francke, U.3
  • 3
    • 0021201298 scopus 로고
    • Assignment of the human MARS gene, encoding methioninyl-tRNA synthetase to chromosome 12 using human × Chinese hamster cell hybrids
    • CIRULLO R. E. and Wasmuth J. J. 1984. Assignment of the human MARS gene, encoding methioninyl-tRNA synthetase to chromosome 12 using human × Chinese hamster cell hybrids. Somat. Cell Molec. Genet. 10 225-34.
    • (1984) Somat. Cell Molec. Genet. , vol.10 , pp. 225-234
    • Cirullo, R.E.1    Wasmuth, J.J.2
  • 4
    • 0017386399 scopus 로고
    • Assignment of structural beta-galactosidase loci to human chromosome 3 and 22
    • DE WIT J., Hoeksema H. L., Bootsma D. and Westerveld A. 1977. Assignment of structural beta-galactosidase loci to human chromosome 3 and 22. Cytogenet. Cell Genet. 3 351-63.
    • (1977) Cytogenet. Cell Genet. , vol.3 , pp. 351-363
    • De Wit, J.1    Hoeksema, H.L.2    Bootsma, D.3    Westerveld, A.4
  • 6
    • 0028909163 scopus 로고
    • Microsatellite instability and other molecular abnormalities in non-small cell lung cancer
    • FONG K. M., Zimmerman P. V. and Smith P. J. 1995. Microsatellite instability and other molecular abnormalities in non-small cell lung cancer. Cancer Res. 55 28-30.
    • (1995) Cancer Res. , vol.55 , pp. 28-30
    • Fong, K.M.1    Zimmerman, P.V.2    Smith, P.J.3
  • 7
    • 0345956531 scopus 로고
    • Differential sensitivity of peripheral blood lymphocytes to stannic chloride from patients with abnormal karyotypes
    • Edited by G. K. Manna and S. C. Roy
    • GANGULY B. B. 1992. Differential sensitivity of peripheral blood lymphocytes to stannic chloride from patients with abnormal karyotypes. In Perspectives in Cytology and Genetics. Vol 7, pp 1157-65. Edited by G. K. Manna and S. C. Roy.
    • (1992) Perspectives in Cytology and Genetics , vol.7 , pp. 1157-1165
    • Ganguly, B.B.1
  • 8
    • 0027265873 scopus 로고
    • Cell division, chromosomal damage and micronucleui formation in human peripheral lymphocytes of healthy donors: Related to donor's age
    • GANGULY B. B. 1993. Cell division, chromosomal damage and micronucleui formation in human peripheral lymphocytes of healthy donors: related to donor's age. Mutat. Res. 295 135-48.
    • (1993) Mutat. Res. , vol.295 , pp. 135-148
    • Ganguly, B.B.1
  • 9
    • 0347217822 scopus 로고
    • Exfoliated nuclear damage in khaini users
    • (New Delhi, India). Monduzzi Editore S. P. A. Bologna, Italy
    • GANGULY B. B. 1994. Exfoliated nuclear damage in khaini users. Proceedings of XVI International Cancer Congress (New Delhi, India). Monduzzi Editore S. P. A. Bologna, Italy, pp 905-8.
    • (1994) Proceedings of XVI International Cancer Congress , pp. 905-908
    • Ganguly, B.B.1
  • 10
    • 0029016168 scopus 로고
    • Age related variation in sister chromatid exchanges and cell cycle kinetics in peripheral blood lymphocytes of healthy individuals
    • GANGULY B. B. 1995. Age related variation in sister chromatid exchanges and cell cycle kinetics in peripheral blood lymphocytes of healthy individuals. Mutat. Res. 316 147-56.
    • (1995) Mutat. Res. , vol.316 , pp. 147-156
    • Ganguly, B.B.1
  • 11
    • 0027350810 scopus 로고
    • Chromosomal damage in lymphocytes of control and patients with autosomal and sex chromosomal disorders
    • GANGULY B. B., Talukder G. and Sharma A. 1993. Chromosomal damage in lymphocytes of control and patients with autosomal and sex chromosomal disorders. Cytobios 73 95-103.
    • (1993) Cytobios , vol.73 , pp. 95-103
    • Ganguly, B.B.1    Talukder, G.2    Sharma, A.3
  • 15
    • 0017653405 scopus 로고
    • The action of N'-methyl-N-nitrosourea on non-established human cell lines in vitro. 1. Cell cycle inhibition and aberration induction in diploid and Down's fibroblasts
    • KAINA B., Waller H., Waller M. and Rigger R. 1977. The action of N'-methyl-N-nitrosourea on non-established human cell lines in vitro. 1. Cell cycle inhibition and aberration induction in diploid and Down's fibroblasts. Mutat. Res. 43 387-400.
    • (1977) Mutat. Res. , vol.43 , pp. 387-400
    • Kaina, B.1    Waller, H.2    Waller, M.3    Rigger, R.4
  • 16
    • 0347217813 scopus 로고
    • Mapping of liver-specific enzymes alpha-glycerophosphate dehydrogenase (GPD-1) and others
    • KIELTY C. and Povey S. 1982. Mapping of liver-specific enzymes alpha-glycerophosphate dehydrogenase (GPD-1) and others. Cytogenet. Cell Genet. 32 290.
    • (1982) Cytogenet. Cell Genet. , vol.32 , pp. 290
    • Kielty, C.1    Povey, S.2
  • 18
    • 0022003067 scopus 로고
    • Gamma-interferon transcriptionally regulates an early-response gene containing homology to platelet proteins
    • LUSTER A. D., Unkeless J. C. and Ravetch J. V. 1985. Gamma-interferon transcriptionally regulates an early-response gene containing homology to platelet proteins. Nature 315 672-6.
    • (1985) Nature , vol.315 , pp. 672-676
    • Luster, A.D.1    Unkeless, J.C.2    Ravetch, J.V.3
  • 19
    • 0020419192 scopus 로고
    • Chromosomal patterns in a benign human neoplasm, the mixed salivary gland tumor
    • MARK J., Dahlenfoss R., Ekedehl C. and Stenman G. 1982. Chromosomal patterns in a benign human neoplasm, the mixed salivary gland tumor. Hereditas 96 141-8.
    • (1982) Hereditas , vol.96 , pp. 141-148
    • Mark, J.1    Dahlenfoss, R.2    Ekedehl, C.3    Stenman, G.4
  • 20
    • 0005658823 scopus 로고
    • Human insulin-like growth factor-1 (IGF1) is encoded at 12q22-q24.1 and insulin like growth factor-2 (IGF2) is at 11p15
    • MORTON C., Rall L, Bell G. and Shows T. 1985. Human insulin-like growth factor-1 (IGF1) is encoded at 12q22-q24.1 and insulin like growth factor-2 (IGF2) is at 11p15. Cytogenet. Cell Genet. 40 703.
    • (1985) Cytogenet. Cell Genet. , vol.40 , pp. 703
    • Morton, C.1    Rall, L.2    Bell, G.3    Shows, T.4
  • 21
    • 0020639033 scopus 로고
    • Phenylketonuria (PKU) and the single gene: An old story retold
    • MURPHY R. M. 1983. Phenylketonuria (PKU) and the single gene: an old story retold. Behav. Genet. 13 141-54.
    • (1983) Behav. Genet. , vol.13 , pp. 141-154
    • Murphy, R.M.1
  • 22
    • 0020048660 scopus 로고
    • Mapping of aminoacylase-1 and beta-galactosidase-A to homologous regions of human chromosome 3 and mouse chromosome 9 suggests location of additional genes
    • NAYLOR S. L., Elliott R. W., Brown J. A. and Shows T. B. 1982. Mapping of aminoacylase-1 and beta-galactosidase-A to homologous regions of human chromosome 3 and mouse chromosome 9 suggests location of additional genes. Am. J. Hum. Genet. 34 235-44.
    • (1982) Am. J. Hum. Genet. , vol.34 , pp. 235-244
    • Naylor, S.L.1    Elliott, R.W.2    Brown, J.A.3    Shows, T.B.4
  • 25
    • 0025896478 scopus 로고
    • Sister chromatid exchanges in lymphocytes from infants with Down's syndrome
    • SHUBBER E. K., Hamami H. A., Allak B. M. A. and Khaleel A. H. 1991. Sister chromatid exchanges in lymphocytes from infants with Down's syndrome. Mutat. Res. 248 61-72.
    • (1991) Mutat. Res. , vol.248 , pp. 61-72
    • Shubber, E.K.1    Hamami, H.A.2    Allak, B.M.A.3    Khaleel, A.H.4
  • 28
    • 0021082089 scopus 로고
    • A familial reciprocal translocation t(3;7)(p21;p13) associated with the Grieg polysyndactyly craniofacial anomalies
    • TOMMERUP N. and Nielsen F. 1983. A familial reciprocal translocation t(3;7)(p21;p13) associated with the Grieg polysyndactyly craniofacial anomalies. Am. J. med. Genet. 16 33-321.
    • (1983) Am. J. Med. Genet. , vol.16 , pp. 33-321
    • Tommerup, N.1    Nielsen, F.2
  • 29
    • 0021219864 scopus 로고
    • Localisation of insulinlike growth factor genes to human chromosomes 11 and 12
    • TRICOLI J. V., Rall L. B., Scott J., Bell G. I. and Shows T. B. 1984. Localisation of insulinlike growth factor genes to human chromosomes 11 and 12. Nature 310 784-6.
    • (1984) Nature , vol.310 , pp. 784-786
    • Tricoli, J.V.1    Rall, L.B.2    Scott, J.3    Bell, G.I.4    Shows, T.B.5
  • 31
    • 24244460266 scopus 로고
    • Analysis of phenylketonuria (PKU) by cloning and characterization of the human phenylalanine hydroxylase gene
    • WOO S. L. C., Chandra T., Stackhouse R. and Robson K. J. H. 1982. Analysis of phenylketonuria (PKU) by cloning and characterization of the human phenylalanine hydroxylase gene. Am. J. Hum. Genet. 34 168A.
    • (1982) Am. J. Hum. Genet. , vol.34
    • Woo, S.L.C.1    Chandra, T.2    Stackhouse, R.3    Robson, K.J.H.4
  • 32
    • 0021072277 scopus 로고
    • Cloned human phenylalanine hydroxylase gene permits prenatal diagnosis and carrier detection of classical phenylketonuria
    • WOO S. L. C., Lidsky A-S., Guttler F., Chandra T. and Robson K. J. H. 1983. Cloned human phenylalanine hydroxylase gene permits prenatal diagnosis and carrier detection of classical phenylketonuria. Nature 306 151-5.
    • (1983) Nature , vol.306 , pp. 151-155
    • Woo, S.L.C.1    Lidsky, A.-S.2    Guttler, F.3    Chandra, T.4    Robson, K.J.H.5
  • 33
    • 0011215832 scopus 로고
    • Regional mapping of the human phenylalanine hydroxylase gene and PKU locus to 12q21-qter
    • WOO S. L. C., Lidsky A., Law M. and Kao F. T. 1984. Regional mapping of the human phenylalanine hydroxylase gene and PKU locus to 12q21-qter. Am. J. Hum. Genet. 36 210.
    • (1984) Am. J. Hum. Genet. , vol.36 , pp. 210
    • Woo, S.L.C.1    Lidsky, A.2    Law, M.3    Kao, F.T.4
  • 34
    • 0001200482 scopus 로고
    • Sub-regional localisation of human genes for insulin-like growth factors I (IGF1) and II (IGF2) by in situ hybridization
    • YANG-FENG T. L., Brissenden J. E., Uttrich A. and Francke U. 1985. Sub-regional localisation of human genes for insulin-like growth factors I (IGF1) and II (IGF2) by in situ hybridization. Cytogenet. Cell Genet. 40 782.
    • (1985) Cytogenet. Cell Genet. , vol.40 , pp. 782
    • Yang-Feng, T.L.1    Brissenden, J.E.2    Uttrich, A.3    Francke, U.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.