Alessandra Maugeri

DR.

20122019
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Research Output 2012 2019

  • 17 Article
  • 1 Comment/Letter to the editor

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: Further delineation of the phenotype

Cannaerts, E., Kempers, M., Maugeri, A., Marcelis, C., Gardeitchik, T., Richer, J., Micha, D., Beauchesne, L., Timmermans, J., Vermeersch, P., Meyten, N., Chénier, S. B., van de Beek, G., Peeters, N., Alaerts, M., Schepers, D., van Laer, L., Verstraeten, A. & Loeys, B., 2019, In : Journal of Medical Genetics. 56, 4, p. 220-227

Research output: Contribution to journalArticleAcademicpeer-review

The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1

Cayami, FK., Maugeri, A., Treurniet, S., Setijowati, E. D., Teunissen, B., Eekhoff, EMW., Pals, G., Faradz, S. M. & Micha, D., 2019, In : Molecular Genetics and Genomic Medicine.

Research output: Contribution to journalArticleAcademicpeer-review

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant

Overwater, E., Efrat, R., Barge-Schaapveld, D. Q. C. M., Lakeman, P., Weiss, M. M., Maugeri, A., van Tintelen, J. P. & Houweling, A. C., 28 Nov 2018, In : Molecular Genetics and Genomic Medicine.

Research output: Contribution to journalArticleAcademicpeer-review

Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: Case presentation

Wypasek, E., Potaczek, D. P., Hydzik, M., Stapor, R., Raczkowska-Muraszko, M., Weiss, J., Maugeri, A. & Undas, A., 28 Mar 2018, In : Clinical Chemistry and Laboratory Medicine. 56, 4, p. e87-e91

Research output: Contribution to journalComment/Letter to the editorAcademic

Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

Overwater, E., Marsili, L., Baars, M. J. H., Baas, A. F., van de Beek, I., Dulfer, E., van Hagen, J. M., Hilhorst-Hofstee, Y., Kempers, M., Krapels, I. P., Menke, L. A., Verhagen, J. M. A., Yeung, K. K., Zwijnenburg, P. J. G., Groenink, M., van Rijn, P., Weiss, M. M., Voorhoeve, E., van Tintelen, J. P., Houweling, A. C. & 1 othersMaugeri, A., 1 Sep 2018, In : Human Mutation. 39, 9, p. 1173-1192 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access