메뉴 건너뛰기




Volumn 6, Issue 1, 1998, Pages 75-79

Nail patella syndrome in a cytogenetically balanced t(9;17)(q34,1;q25) carrier

Author keywords

Balanced translocation; Nail patella syndrome; NPS

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 9Q; CHROMOSOME TRANSLOCATION 9; CLINICAL FEATURE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENETIC LINKAGE; HETEROZYGOTE; HUMAN; HUMAN CELL; INFANT; MALE; NAIL PATELLA SYNDROME; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0031936110     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200155     Document Type: Article
Times cited : (12)

References (27)
  • 1
    • 0040920369 scopus 로고    scopus 로고
    • OMIM™: Johns Hopkins University, Baltimore, MD MIM Number 161200: 1/13/1997 World Wide Web
    • Online Mendelian Inheritance in Man, OMIM™: Johns Hopkins University, Baltimore, MD MIM Number 161200: 1/13/1997 World Wide Web URL: http:/ /www3.ncbi.nlm.nih.gov/omim.
    • Online Mendelian Inheritance in Man
  • 2
    • 0027181962 scopus 로고
    • Familial bilateral antecubital pterygia with severe renal involvement in nail patella syndrome
    • Rizzo R, Pavone L, Micali G, Hall JG: Familial bilateral antecubital pterygia with severe renal involvement in nail patella syndrome. Clin Genet 1993; 44: 1-7.
    • (1993) Clin Genet , vol.44 , pp. 1-7
    • Rizzo, R.1    Pavone, L.2    Micali, G.3    Hall, J.G.4
  • 3
    • 21044456151 scopus 로고
    • Congenital absence or delayed development of the patella
    • Little EM: Congenital absence or delayed development of the patella. Lancet 1897; II: 781.
    • (1897) Lancet , vol.2 , pp. 781
    • Little, E.M.1
  • 4
    • 13144251746 scopus 로고
    • Hereditary absence of the patellae and deformity of the nails
    • Firth ACD: Hereditary absence of the patellae and deformity of the nails. Br J Child Dis 1912; 9: 305.
    • (1912) Br J Child Dis , vol.9 , pp. 305
    • Firth, A.C.D.1
  • 5
    • 0000608387 scopus 로고
    • Gemeinsame Vererbung von Anonychie bzw. Onychatrophie, Patellardefekt und Luxatio radii. Dominantes Auftreten in 5 Generationen
    • Österreicher W: Gemeinsame Vererbung von Anonychie bzw. Onychatrophie, Patellardefekt und Luxatio radii. Dominantes Auftreten in 5 Generationen. Ztrsch. Konstitutionslehre 1930; 15: 165-476.
    • (1930) Ztrsch. Konstitutionslehre , vol.15 , pp. 165-476
    • Österreicher, W.1
  • 6
    • 0001004952 scopus 로고
    • A hereditary arthrodysplasia associated with hereditary dystrophy of the nails
    • Turner JW: A hereditary arthrodysplasia associated with hereditary dystrophy of the nails. JAMA 1933; 100: 882-884.
    • (1933) JAMA , vol.100 , pp. 882-884
    • Turner, J.W.1
  • 8
    • 0001359178 scopus 로고
    • Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns
    • Hawkins CF, Smith OE: Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns. Lancet 1950; 1: 803-808.
    • (1950) Lancet , vol.1 , pp. 803-808
    • Hawkins, C.F.1    Smith, O.E.2
  • 9
    • 13144250720 scopus 로고
    • Hereditary congenital anomalies of bones and nails in five generations
    • Wildervanck LS: Hereditary congenital anomalies of bones and nails in five generations. Genetica 1950; 25: 1-28.
    • (1950) Genetica , vol.25 , pp. 1-28
    • Wildervanck, L.S.1
  • 10
    • 0000539456 scopus 로고
    • Genetical linkage between the ABO and nail patella loci
    • Renwick JH, Lawler SD: Genetical linkage between the ABO and nail patella loci. Ann Hum Genet 1955; 19 312-331.
    • (1955) Ann Hum Genet , vol.19 , pp. 312-331
    • Renwick, J.H.1    Lawler, S.D.2
  • 11
    • 0012506911 scopus 로고
    • Nail patella syndrome: Clinical and linkage data on family G
    • Jameson RJ, Lawler SD, Renwick LH: Nail patella syndrome: clinical and linkage data on family G. Ann Hum Genet 1956; 20: 348-360.
    • (1956) Ann Hum Genet , vol.20 , pp. 348-360
    • Jameson, R.J.1    Lawler, S.D.2    Renwick, L.H.3
  • 12
    • 13144257297 scopus 로고
    • Data on linkage in man: The nail patella syndrome, family S
    • Clarke CA, McConnel RB, Sheppard PM: Data on linkage in man: the nail patella syndrome, family S. Ann Hum Genet 1961; 25: 25-27.
    • (1961) Ann Hum Genet , vol.25 , pp. 25-27
    • Clarke, C.A.1    McConnel, R.B.2    Sheppard, P.M.3
  • 13
    • 13144293636 scopus 로고
    • Nail patella syndrome coupled with blood group B in a New Zealand family S
    • Goodall CM: Nail patella syndrome coupled with blood group B in a New Zealand family S. Ann Hum Genet 1963; 26: 243-244.
    • (1963) Ann Hum Genet , vol.26 , pp. 243-244
    • Goodall, C.M.1
  • 14
    • 0008972325 scopus 로고
    • Onycho-osteodysplasia (nail patella syndrome): Study of a Chinese family with this condition
    • Pillay VK: Onycho-osteodysplasia (nail patella syndrome): study of a Chinese family with this condition. Ann Hum Gen 1965; 28:301-307.
    • (1965) Ann Hum Gen , vol.28 , pp. 301-307
    • Pillay, V.K.1
  • 15
    • 84984084531 scopus 로고
    • Male and female recombination fractions for the nail patella:AB0 linkage in man
    • Renwick JH, Schulze J: Male and female recombination fractions for the nail patella:AB0 linkage in man. Ann Hum Genet 1965; 28: 379-392.
    • (1965) Ann Hum Genet , vol.28 , pp. 379-392
    • Renwick, J.H.1    Schulze, J.2
  • 16
    • 0013965028 scopus 로고
    • Nail patella syndrome in an Indian family: Clinical and linkage data
    • Sharma JC: Nail patella syndrome in an Indian family: clinical and linkage data. Ann Hum Genet 1966; 30: 193-195.
    • (1966) Ann Hum Genet , vol.30 , pp. 193-195
    • Sharma, J.C.1
  • 17
    • 0015032104 scopus 로고
    • A second family with the nail patella allele and the adenylate kinase-2 allele in coupling
    • Sobel RS, Tiger A, Gerald PS: A second family with the nail patella allele and the adenylate kinase-2 allele in coupling. Am J Hum Genet 1971; 23: 146-149.
    • (1971) Am J Hum Genet , vol.23 , pp. 146-149
    • Sobel, R.S.1    Tiger, A.2    Gerald, P.S.3
  • 19
    • 0028868128 scopus 로고
    • Linkage analysis of the nail patella syndrome
    • Campeau E, Watkins D, Rouleau GA et al: Linkage analysis of the nail patella syndrome. Am J Hum Gen 1995; 56: 243-247.
    • (1995) Am J Hum Gen , vol.56 , pp. 243-247
    • Campeau, E.1    Watkins, D.2    Rouleau, G.A.3
  • 20
    • 16944365531 scopus 로고    scopus 로고
    • Fine mapping of the nail patella syndrome locus at 9q34
    • McIntosh I, Clough MV, Schäffer AA et al: Fine mapping of the nail patella syndrome locus at 9q34. Am J Hum Genet 1997; 60: 133-142.
    • (1997) Am J Hum Genet , vol.60 , pp. 133-142
    • McIntosh, I.1    Clough, M.V.2    Schäffer, A.A.3
  • 21
    • 0028843747 scopus 로고
    • Complete and precise characterization of marker chromosomes by application of microdissection in prenatal diagnosis
    • Müller-Navia J, Nebel A, Schleiermacher E: Complete and precise characterization of marker chromosomes by application of microdissection in prenatal diagnosis. Hum Genet 1995; 96: 661-667.
    • (1995) Hum Genet , vol.96 , pp. 661-667
    • Müller-Navia, J.1    Nebel, A.2    Schleiermacher, E.3
  • 22
    • 0028299948 scopus 로고
    • Detection of chimeric BCR-ABL genes on bone marrow samples and blood smears in chronic myeloid and acute lymphoblastic leukemia by in situ hybridization
    • Bentz M, Cabot G, Moos M et al: Detection of chimeric BCR-ABL genes on bone marrow samples and blood smears in chronic myeloid and acute lymphoblastic leukemia by in situ hybridization. Blood 1994; 7: 1922-1928.
    • (1994) Blood , vol.7 , pp. 1922-1928
    • Bentz, M.1    Cabot, G.2    Moos, M.3
  • 23
    • 0026725180 scopus 로고
    • Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification
    • Lengauer C, Green ED, Cremer T: Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification. Genomics 1992 13: 826-828.
    • (1992) Genomics , vol.13 , pp. 826-828
    • Lengauer, C.1    Green, E.D.2    Cremer, T.3
  • 24
    • 0000579784 scopus 로고    scopus 로고
    • Chromosome analysis by nonisotopic in situ hybridization
    • Rooney DA, Czepulkowski BH (eds): 2nd edn. IRL, Oxford, New York, Tokyo
    • Lichter P, Cremer T: Chromosome analysis by nonisotopic in situ hybridization. In Rooney DA, Czepulkowski BH (eds): Human Cytogenetics Vol I, 2nd edn. IRL, Oxford, New York, Tokyo pp 157-192.
    • Human Cytogenetics , vol.1 , pp. 157-192
    • Lichter, P.1    Cremer, T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.