Search Results - "Ribeiro, Maria Cecília Menks"

  • Showing 1 - 12 results of 12
Refine Results
  1. 1
  2. 2
  3. 3

    Chronic Granulomatous Disease and Myelodysplastic Syndrome in a Patient with a Novel Mutation in CYBB by Reis, Bárbara C S, Cunha, Daniela P, Bueno, Ana Paula S, Carvalho, Flavia A A, Dutra, Juliana, Mello, Fabiana V, Ribeiro, Maria Cecília Menks, Milito, Cristiane B, da Costa, Elaine Sobral, Vasconcelos, Zilton

    Published in Genes (23-09-2021)
    “…Chronic Granulomatous Disease (CGD) is an inborn error of immunity characterized by impaired phagocyte function, recurrent fungal and bacterial infections and…”
    Get full text
    Journal Article
  4. 4
  5. 5
  6. 6
  7. 7
  8. 8
  9. 9

    Bilateral retinoblastoma associated with 13q-mosaicism. Possible manifestation of a germinal mutation by Ribeiro, M C, Andrade, J A, Erwenne, C M, Brunoni, D

    Published in Cancer genetics and cytogenetics (01-06-1988)
    “…Fifteen retinoblastoma patients were studied cytogenetically using G- and R-banding techniques. One patient showed 13q-mosaicism. It is suggested that a…”
    Get more information
    Journal Article
  10. 10

    Retinoblastoma: análise cromossômica by ERWENNE, C. M, MENKS RIBEIRO, M. C, JOFFE, R, ANDRADE, J. A. D, GOUVEA PACHECO, J. C

    Published in Arquivos brasileiros de oftalmologia (01-08-1990)
    “…RESUMO O artigo refere o resultado da análise cromossômica de 27 porta dores de retinoblastoma uni ou bilateral, de ambos os sexos, espo rádicos ou familiais,…”
    Get full text
    Journal Article
  11. 11

    Sister chromatid exchange frequency in a retinoblastoma mosaic patient with del(13) by Melaragno, M I, Ribeiro, M C, Smith, M de A, Andrade, J A, Erwenne, C M

    Published in Cancer genetics and cytogenetics (01-06-1988)
    “…The frequencies of sister chromatid exchange (SCE) were investigated in different cell populations derived from a patient with retinoblastoma and…”
    Get more information
    Journal Article
  12. 12

    Duchenne muscular dystrophy in a girl with an (X;15) translocation by Ribeiro, M C, Melaragno, M I, Schmidt, B, Brunoni, D, Gabbai, A A, Hackel, C

    Published in American journal of medical genetics (01-10-1986)
    “…This is a report of a girl with Duchenne muscular dystrophy (DMD) associated with an 46,X,t (X;15) (p21; q 26) chromosome constitution. Although in the eight…”
    Get more information
    Journal Article