Alessandra Maugeri

DR.

20122019
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Research Output 2012 2019

  • 17 Article
  • 1 Comment/Letter to the editor
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Article
2019

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

2018

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

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
2017

Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis

van Dijk, F. S., Mancini, G. M. S., Maugeri, A. & Cobben, J. M., 1 Oct 2017, In : European Journal of Medical Genetics. 60, 10, p. 536-540 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

Overwater, E., Floor, K., van Beek, D., de Boer, K., van Dijk, T., Hilhorst-Hofstee, Y., Hoogeboom, A. J. M., van Kaam, K. J., van de Kamp, J. M., Kempers, M., Krapels, I. P. C., Kroes, H. Y., Loeys, B., Salemink, S., Stumpel, C. T. R. M., Verhoeven, V. J. M., Wijnands-van den Berg, E., Cobben, J. M., van Tintelen, J. P., Weiss, M. M. & 2 othersHouweling, A. C. & Maugeri, A., 1 Sep 2017, In : European Journal of Medical Genetics. 60, 9, p. 465-473 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Recognizing the tenascin-X deficient type of Ehlers–Danlos syndrome: a cross-sectional study in 17 patients

Demirdas, S., Dulfer, E., Robert, L., Kempers, M., van Beek, D., Micha, D., van Engelen, B. G., Hamel, B., Schalkwijk, J., Loeys, B., Maugeri, A. & Voermans, N. C., 1 Mar 2017, In : Clinical Genetics. 91, 3, p. 411-425 15 p.

Research output: Contribution to journalArticleAcademicpeer-review

2015

Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome

Franken, R., den Hartog, A. W., Radonic, T., Micha, D., Maugeri, A., van Dijk, F. S., Meijers-Heijboer, H. E., Timmermans, J., Scholte, A. J., van den Berg, M. P., Groenink, M., Mulder, B. J. M., Zwinderman, A. H., de Waard, V. & Pals, G., 2015, In : Circulation-cardiovascular genetics. 8, 2, p. 383-388

Research output: Contribution to journalArticleAcademicpeer-review

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1

Monroe, G. R., Harakalova, M., Crabben, S. N., Majoor-Krakauer, D., Bertoli-Avella, A. M., Moll, F. L., Oranen, B. I., Dooijes, D., Vink, A., Knoers, N. V., Maugeri, A., Pals, G., Nijman, I. J., van Haaften, G. & Baas, A. F., 2015, In : American Journal of Medical Genetics Part A. 167, 6, p. 1196-1203

Research output: Contribution to journalArticleAcademicpeer-review

First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm

van de Luijtgaarden, K. M., Heijsman, D., Maugeri, A., Weiss, M. M., Verhagen, H. J. M., Ijpma, A., Bruggenwirth, H. T. & Majoor-Krakauer, D., 2015, In : Human Genetics. 134, 8, p. 881-893

Research output: Contribution to journalArticleAcademicpeer-review

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

Micha, D., Guo, D. C., Hilhorst-Hofstee, Y., van Kooten, F., Atmaja, D., Overwater, E., Cayami, F. K., Regalado, E. S., van Uffelen, R., Venselaar, H., Faradz, S. M. H., Vriend, G., Weiss, M. M., Sistermans, E. A., Maugeri, A., Milewicz, D. M., Pals, G. & van Dijk, F. S., 2015, In : Human Mutation. 36, 12, p. 1145-1149

Research output: Contribution to journalArticleAcademicpeer-review

2013

Clinical utility gene card for: osteogenesis imperfecta

van Dijk, F. S., Dalgleish, R., Malfait, F., Maugeri, A., Rusinska, A., Semler, O., Symoens, S. & Pals, G., 2013, In : European Journal of Human Genetics. 21, 6

Research output: Contribution to journalArticleAcademicpeer-review

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency

Lemmens, R., Maugeri, A., Niessen, H. W. M., Goris, A., Tousseyn, T., Demaerel, P., Corveleyn, A., Robberecht, W., van der Knaap, M. S., Thijs, V. N. & Zwijnenburg, P. J. G., 15 Jan 2013, In : Human Molecular Genetics. 22, 2, p. 391-397 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

PLS3 Mutations in X-Linked Osteoporosis with Fractures

van Dijk, F. S., Zillikens, M. C., Micha, D., Riessland, M., Marcelis, C. L. M., de Die-Smulders, C. E., Milbradt, J., Franken, A. A., Harsevoort, A. J., Lichtenbelt, K. D., van Pruijs, H. E., Rubio-Gozalbo, M. E., Zwertbroek, R., Moutaouakil, Y., Egthuijsen, J., Hammerschmidt, M., Bijman, R., Semeins, C. M., Bakker, A. D., Everts, V. & 13 othersKlein-Nulend, J., Campos-Obando, N., Hofman, A., te Meerman, G. J., Verkerk, A. J. M. H., Uitterlinden, A. G., Maugeri, A., Sistermans, E. A., Waisfisz, Q., Meijers-Heijboer, H., Wirth, B., Simon, M. E. H. & Pals, G., 2013, In : New England Journal of Medicine. 369, 16, p. 1529-1536

Research output: Contribution to journalArticleAcademicpeer-review

2012

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

van Dijk, F. S., Byers, P. H., Dalgleish, R., Malfait, F., Maugeri, A., Rohrbach, M., Symoens, S., Sistermans, E. A. & Pals, G., 2012, In : European Journal of Human Genetics. 20, 1, p. 11-19

Research output: Contribution to journalArticleAcademicpeer-review

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Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome

Micheal, S., Khan, M. I., Akhtar, F., Weiss, M. M., Islam, F., Ali, M., Qamar, R., Maugeri, A. & den Hollander, A. I., 2012, In : Molecular Vision. 18, 199, p. 1918-1926

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
File

Osteogenesis imperfecta: klinische en genetische heterogeniteit

van Dijk, F. S., Cobben, J. M., Maugeri, A., Nikkels, P. G. J., Van Rijn, R. R. & Pals, G., 2012, In : Nederlands Tijdschrift voor Geneeskunde. 156, 21, A4585.

Research output: Contribution to journalArticleProfessional