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Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2 (1995)

  • Authors:
  • USP affiliated authors: ALMEIDA, MARIA LEINE GUION DE - HRAC
  • USP Schools: HRAC
  • DOI: 10.1038/ng1295-459
  • Subjects: GENÉTICA MÉDICA
  • Language: Inglês
  • Imprenta:
  • Source:
    • Título do periódico: Nature Genetics
    • Volume/Número/Paginação/Ano: v.11, n.4, p.459-61, 1995
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    Informações sobre o DOI: 10.1038/ng1295-459 (Fonte: oaDOI API)
    • Este periódico é de assinatura
    • Este artigo NÃO é de acesso aberto
    • Cor do Acesso Aberto: closed
    Informações sobre o Citescore
  • Título: Nature Genetics

    ISSN: 1061-4036

    Citescore - 2017: 21.12

    SJR - 2017: 22.243

    SNIP - 2017: 5.867


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    • ABNT

      ROBIN, N H; FELDMAN, G J; ARONSON, A L; et al. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nature Genetics, New York, v. 11, n. 4, p. 459-61, 1995. DOI: 10.1038/ng1295-459.
    • APA

      Robin, N. H., Feldman, G. J., Aronson, A. L., Mitchell, H. F., Weksberg, R., Leonard, C. O., et al. (1995). Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nature Genetics, 11( 4), 459-61. doi:10.1038/ng1295-459
    • NLM

      Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R, Leonard CO, Burton BK, Josephson KD, Laxova R, Aleck KA, Allanson JE. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nature Genetics. 1995 ;11( 4): 459-61.
    • Vancouver

      Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R, Leonard CO, Burton BK, Josephson KD, Laxova R, Aleck KA, Allanson JE. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nature Genetics. 1995 ;11( 4): 459-61.

    Referências citadas na obra
    McKusick, V.A. (1994) Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders. Eleventh Edition, 759–761 (Johns Hopkins University Press, Baltimore, 1994).
    Opitz, J.M., Summitt, R.L. & Smith, D.W. The BBB syndrome familial telecanthus with associated congenital anomalies. Birth Defects: Original Article Series V(2), 86–94 (1969).
    Opitz, J.M., Frías, J.L., Guttenberger, J.E. & Pellet, J.R. The G syndrome of multiple congenital anomalies. Birth Defects: Original Article Series V(2), 95–102 ((1969).
    Cordero, J.F. & Holmes, L.B. Phenotypic overlap of the BBB and G syndromes. Am. J. med. Genet. 2, 145–152 (1978).
    Fardon, P.A. & Donnai, D. Male to male transmission of the G syndrome. Clin. Genet. 24, 446–448 (1983).
    Stoll, C., Geraudel, A., Berland, H., Roth, M.-P. & Dott, B. Male to male transmission of the hypertelorism-hypospadias (BBB) syndrome. Am. J. med. Genet. 20, 221–225 (1978).
    Opitz, J.M. Editorial comment: G syndrome (hypertelorism with esopnageal abnormality and hypospadias, or hypospadias-dysphagia, or “Opitz-Frías” or “Opitz-G” syndrome) — perspective in 1987 and bibliography. Am. J. med. Genet. 28, 275–285 (1987).
    Wittwer, B., Kircheisen, R., Leutelt, J. & Gal, A. Gene of a new X-linked syndrome with multiple congenital anomalies and severe mental retardation maps to Xp22–pter. Am. J. hum. Genet. 55(S), A1207 (1994).
    Cohen Jr, M.M. Craniofrontonasal dysplasia. Birth Defects: Original Article Series XV(5B), 85–89 (1979).
    MacPherson, E., Estop, A. & Paulus-Thomas, J. Craniofrontonasal dysplasia in a girl with del (X)(p22. 2). Am. J. hum. Genet. 49(S), A774 (1991).
    Driscoll, D.A. et al. Deletions and microdeletions of 22q11 in velo-cardio-facial syndrome. Amer. J. med. Genet. 44, 261–268 (1992).
    Driscoll, D.A., Budarf, M.L. & Emanuel, B.S. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am. J. hum. Genet. 50, 924–933 (1992).
    Goldmutz, E. et al. Microdeletions of chromosomal region b22q11.2 in patients with congenital conotruncal cardiac defects. J. med. Genet. 30, 807–812 (1993).
    Vortkamp, A., Gessler, M. & Grzeschik, K.-H. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 352, 539–540 (1991).
    Franzè, A., Archidiacono, N., Rocchi, M., Marino, M. & Grimaldi, G. Isolation and expression analysis of a human zinc finger gene (ZFN41) located on the short arm of the X chromosome. Genomics 7, 728–736 (1991).
    Marino, M. et al. A novel member of the human zinc finger protein gene family: isolation, mapping, and expression. Mammal. Genet. 4, 252–257 (1993).
    Page, D.C. et al. Chromosomal localization of ZFX-a human gene that escapes X-inactivation-and its murine homologs. Genomics 7, 37–46 (1990).
    Aubry, M. et al. Cloning of six new genes with zinc finger motifs mapping to the short and long arms of human acrocentric chromosome 22 (p and q11.2). Genomics 13, 641–648 (1992).
    Allanson, J.E. G syndrome: an unusual family. Am. J. med. Genet. 31, 637–642 (1988).
    Brooks, J.K., Leonard, C.O. & Coccaro, P.J. Opitz (BBB/G) syndrome: oral manifestations. Am. J. med. Genet. 43, 595–601 (1992).
    Guion-Almeida, M.L. & Richieri-Costa, A. CMS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients. Am. J. med. Genet. 43, 918–928 (1992).
    Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. natn. Acad. Sci. U.S.A. 81, 3443–3446 (1984).
    Ott, J. Analysis of Human Genetic Linkage. (Johns Hopkins Press, Baltimore, 1992).