20122019
If you made any changes in Pure these will be visible here soon.

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2012 2019

  • 17 Article
  • 2 Comment/Letter to the editor

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., Feb 2019, In : Molecular Genetics and Genomic Medicine. 7, 2, e00518.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Hereditary thoracic aortic disease associated with cysteine substitution c.937T > G p.(Cys313Gly) in FBN1

Overwater, E., Van Rossum, K., Baars, M. J. H., Maugeri, A. & Houweling, A. C., 1 Dec 2019, In : Netherlands Heart Journal. 27, 12, p. 637-638 2 p.

Research output: Contribution to journalComment/Letter to the editorAcademic

Open Access

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., 1 Apr 2019, In : Journal of Medical Genetics. 56, 4, p. 220-227 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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., 1 Jan 2019, In : Molecular Genetics and Genomic Medicine. 7, 8, e823.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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