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Volumn 40, Issue 1, 1991, Pages 84-87

Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia

Author keywords

47,XYY chromosome constitution; achondroplasia; human chromosome 17; molecular deletion analysis; neurofibromatosis 1

Indexed keywords

ACHONDROPLASIA; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 17Q; GENE DELETION; GENE LOCATION; HUMAN; KARYOTYPE 47,XYY; MALE; NEUROFIBROMATOSIS; PRIORITY JOURNAL;

EID: 0025743901     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1320400117     Document Type: Article
Times cited : (4)

References (17)
  • 4
    • 0024498186 scopus 로고
    • Editorial: The von Recklinghausen Neurofibromatosis region on chromosome 17–genetic and physical maps come into focus
    • Collins FS, Ponder BA, Seizinger BR, Epstein CJ (1989): Editorial: The von Recklinghausen Neurofibromatosis region on chromosome 17–genetic and physical maps come into focus. Am J Hum Genet 44: 1–5.
    • (1989) Am J Hum Genet , vol.44 , pp. 1-5
    • Collins, FS1    Ponder, BA2    Seizinger, BR3    Epstein, CJ4
  • 8
    • 0021839541 scopus 로고
    • Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome
    • Francke U, Ochs HD, De Martinville B, Giacalone J, Lindgren V, Disteche C, Pagon RA, Hofker MH, van Ommen G‐JB, Pearson PL, Wedgwood RJ (1985): Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet 37: 250–267.
    • (1985) Am J Hum Genet , vol.37 , pp. 250-267
    • Francke, U1    Ochs, HD2    De Martinville, B3    Giacalone, J4    Lindgren, V5    Disteche, C6    Pagon, RA7    Hofker, MH8    van Ommen, G‐JB9    Pearson, PL10    Wedgwood, RJ11
  • 9
    • 0024498187 scopus 로고
    • Multipoint linkage analysis in neurofibromatosis type I: an international collaboration
    • Goldgar DE, Green P, Parry DM, Mulvihill JJ (1989): Multipoint linkage analysis in neurofibromatosis type I: an international collaboration. Am J Hum Gen 44: 6–12.
    • (1989) Am J Hum Gen , vol.44 , pp. 6-12
    • Goldgar, DE1    Green, P2    Parry, DM3    Mulvihill, JJ4
  • 10
    • 84976075979 scopus 로고
    • The XYY genotype
    • Hook ED (1975): The XYY genotype. Science 189: 1044–1045.
    • (1975) Science , vol.189 , pp. 1044-1045
    • Hook, ED1
  • 11
    • 0024695466 scopus 로고
    • The Alzheimer amyloid precursor protein maps to human chromosome 21 bands q21.105‐q1.05
    • Korenberg JR, Pulst SM, Neve RL, West R (1989): The Alzheimer amyloid precursor protein maps to human chromosome 21 bands q21.105‐q1.05. Genomics 5: 124–127.
    • (1989) Genomics , vol.5 , pp. 124-127
    • Korenberg, JR1    Pulst, SM2    Neve, RL3    West, R4
  • 12
    • 0025341048 scopus 로고
    • The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17
    • Pulst SM, Graham JM, Fain P, Barker D, Pribyl T, Korenberg JR (1990): The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17. Hum Genet 85: 12–14.
    • (1990) Hum Genet , vol.85 , pp. 12-14
    • Pulst, SM1    Graham, JM2    Fain, P3    Barker, D4    Pribyl, T5    Korenberg, JR6
  • 13
    • 85120515738 scopus 로고
    • Separation of yeast‐chromosome‐sized DNA by pulsed field gradient gel electrophoresis
    • Schwartz DA, Cantor CR (1984): Separation of yeast‐chromosome‐sized DNA by pulsed field gradient gel electrophoresis. Cell 49: 589–594.
    • (1984) Cell , vol.49 , pp. 589-594
    • Schwartz, DA1    Cantor, CR2
  • 16
    • 33748251961 scopus 로고
    • Achondroplasia, neurofibromatosis, and 47,XYY as new mutational events in a single individual
    • Wassman ER, Kovacks B, Rimoin DL, Sparkes R, Alfi O (1988): Achondroplasia, neurofibromatosis, and 47,XYY as new mutational events in a single individual. Am J Med Genet (Suppl) 43: A99.
    • (1988) Am J Med Genet (Suppl) , vol.43 , pp. A99
    • Wassman, ER1    Kovacks, B2    Rimoin, DL3    Sparkes, R4    Alfi, O5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.