E. de Mattos

E-mail:
e.de.mattos umcg.nl

Research

Publications
  1. Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease

    Mergener, R., Furtado, G. V., de Mattos, E. P., Leotti, V. B., Jardim, L. B. & Saraiva-Pereira, M. L., 2019, In : Neuromolecular medicine.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations

    Preusser Mattos, E., Vieira Sanseverino, M. T., A. Magalhães, J. A., L. Leite, J. C., Félix, T. M., Todeschini, L. A., P. Cavalcanti, D. & Schüler-Faccini, L., 19-Aug-2014, In : Genetics and Molecular Biology.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Atelosteogenesis Type 2/Diastrophic Dysplasia Phenotypic Spectrum: From Prenatal to Preimplantation Genetic Diagnosis

    Preusser Mattos, E., A. Magalhães, J. A., Mittaz-Crettol, L., Azambuja, R., Azambuja, R., Okada, L., P. Cavalcanti, D., Cuzzi, J., Badalotti, M., Petracco, R., Petracco, A., Schuler-Faccini, L. & Vieira Sanseverino, M. T., May-2014, In : Open Journal of Obstetrics and Gynecology. p. 399-404 6 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Identification of a premature stop codon mutation in the PHGDH gene in severe Neu‐Laxova syndrome—evidence for phenotypic variability

    Preusser Mattos, E., Anjos da Silva, A., A. Magalhães, J. A., L. Leite, J. C., Leistner-Segal, S., Gus-Kessler, R., Adams Perez, J., M. Vedolin, L., Torreblanca-Zanca, A., Lapunzina, P., L. Ruiz-Perez, V. & Vieira Sanseverino, M. T., 5-Apr-2015, In : American Journal of Medical Genetics. Part A. 167, 6, p. 1323-1329 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. HSP40/DNAJ Chaperones

    Bergink, S., Kampinga, H. H., Kolbe Musskopf, M. & Preusser Mattos, E., 17-May-2018, In : eLS.

    Research output: Contribution to journalArticleAcademicpeer-review

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