Rosalina Vervenne

20082018

Research output per year

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

Research Output

Filter
Article
2018

Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element

Bouman, A., van Haelst, M. & van Spaendonk, R., 2018, In : Clinical Dysmorphology. 27, 2, p. 58-62

Research output: Contribution to journalArticleAcademicpeer-review

2015

Altered PLP1 splicing causes hypomyelination of early myelinating structures

Kevelam, S. H., Taube, J. R., van Spaendonk, R. M. L., Bertini, E., Sperle, K., Tarnopolsky, M., Tonduti, D., Valente, E. M., Travaglini, L., Sistermans, E. A., Bernard, G., Catsman-Berrevoets, C. E., van Karnebeek, C. D. M., Ostergaard, J. R., Friederich, R. L., Elsaid, M. F., Schieving, J. H., Tarailo-Graovac, M., Orcesi, S., Steenweg, M. E. & 6 others, van Berkel, C. G. M., Waisfisz, Q., Abbink, G. E. M., Knaap, M., Hobson, G. M. & Wolf, N. I., 2015, In : Annals of Clinical and Translational Neurology. 2, 6, p. 648-661

Research output: Contribution to journalArticleAcademicpeer-review

Interferon-alpha and the calcifying microangiopathy in Aicardi-Goutieres syndrome

Klok, M. D., Bakels, H. S., Postma, N. L., van Spaendonk, R. M. L., van der Knaap, M. S. & Bugiani, M., 2015, In : Annals of Clinical and Translational Neurology. 2, 7, p. 774-779

Research output: Contribution to journalArticleAcademicpeer-review

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

Gutierrez, M., Thiffault, I., Guerrero, K., Martos-Moreno, G. A., Tran, L. T., Benko, W., Knaap, M., van Spaendonk, R. M. L., Wolf, N. I. & Bernard, G., 2015, In : Orphanet Journal of Rare Diseases. 10, 69.

Research output: Contribution to journalArticleAcademicpeer-review

POLR3A and POLR3B Mutations in Unclassified Hypomyelination

Cayami, F. K., La Piana, R., van Spaendonk, R. M. L., Nickel, M., Bley, A., Guerrero, K., Tran, L. T., Knaap, M., Bernard, G. & Wolf, N. I., 2015, In : Neuropediatrics. 46, 3, p. 221-227

Research output: Contribution to journalArticleAcademicpeer-review

The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects

Donze, S. H., Meijer, C. R., Kant, S. G., Zandwijken, G. R. J., van der Hout, A. H., van Spaendonk, R. M. L., van den Ouweland, A. M. W., Wit, J. M., Losekoot, M. & Oostdijk, W., 2015, In : European Journal of Endocrinology. 173, 5, p. 611-621

Research output: Contribution to journalArticleAcademicpeer-review

2014

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Wolf, N. I., Vanderver, A., van Spaendonk, R. M. L., Schiffmann, R., Brais, B., Bugiani, M., Sistermans, E. A., Catsman-Berrevoets, C., Kros, J. M., Pinto, P. S., Pohl, D., Tirupathi, S., Stromme, P., de Grauw, T., Fribourg, S., Demos, M., Pizzino, A., Naidu, S., Guerrero, K., van der Knaap, M. S. & 1 others, Bernard, G., 2014, In : Neurology. 83, 21, p. 1898-1905

Research output: Contribution to journalArticleAcademicpeer-review

Functional characterization of a new human melanocortin-4 receptor homozygous mutation (N72K) that is associated with early-onset obesity

Delhanty, P. J. D., Bouw, E., Huisman, M., Vervenne, R. M. L., Themmen, A. P. N., van der Lely, A. J. & van den Akker, E. L. T., 2014, In : Molecular Biology Reports. 41, 12, p. 7967-7972

Research output: Contribution to journalArticleAcademicpeer-review

2013

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Beunders, G., Voorhoeve, E., Golzio, C., Pardo, L. M., Rosenfeld, J. A., Talkowski, M. E., Simonic, I., Lionel, A. C., Vergult, S., Pyatt, R. E., van de Kamp, J. M., Nieuwint, A. W. M., Weiss, M. M., Rizzu, P., Verwer, L. E. N. I., van Spaendonk, R. M. L., Shen, Y. P., Wu, B. L., Yu, T. T., Yu, Y. G. & 43 others, Chiang, C., Gusella, J. F., Lindgren, A. M., Morton, C. C., van Binsbergen, E., Bulk, S., van Rossem, E., Vanakker, O., Armstrong, R., Park, S. M., Greenhalgh, L., Maye, U., Neill, N. J., Abbott, K. M., Sell, S., Ladda, R., Farber, D. M., Bader, P. I., Cushing, T., Drautz, J. M., Konczal, L., Nash, P., de Los Reyes, E., Carter, M. T., Hopkins, E., Marshall, C. R., Osborne, L. R., Gripp, K. W., Thrush, D. L., Hashimoto, S., Gastier-Foster, J. M., Astbury, C., Ylstra, B., Meijers-Heijboer, E. J., Posthuma, D., Menten, B., Mortier, G., Scherer, S. W., Eichler, E. E., Girirajan, S., Katsanis, N., Groffen, A. J. A. & Sistermans, E. A., 2013, In : American journal of human genetics. 92, 2, p. 210-220

Research output: Contribution to journalArticleAcademicpeer-review

2012

A patient with a rare leukodystrophy related to lamin B1 duplication

Molloy, A., Cotter, O., van Spaendonk, R. M. L., Sistermans, E. A. & Sweeney, B., 2012, In : Irish medical journal. 105, 6, p. 186-187

Research output: Contribution to journalArticleAcademicpeer-review

2011

Beare-Stevenson Syndrome: Two Dutch Patients With Cerebral Abnormalities

Barge-Schaapveld, D. Q. C. M., Brooks, A. S., Lequin, M. H., van Spaendonk, R. M. L., Vermeulen, R. J. & Cobben, J. M., 2011, In : Pediatric Neurology. 44, 4, p. 303-307

Research output: Contribution to journalArticleAcademicpeer-review

Hypomyelination and congenital cataract: broadening the clinical phenotype

Biancheri, R., Zara, F., Rossi, A., Mathot, M., Nassonge, M. G., Yalcinkaya, C., Erturk, O., Tuysus, B., Di Rocco, M., Gazzerro, E., Bugiani, M., van Spaendonk, R. M. L., Sistermans, E. A., Minetti, C., van der Knaap, M. S. & Wolf, N. I., 2011, In : Archives of Neurology. 68, 9, p. 1191-1194

Research output: Contribution to journalArticleAcademicpeer-review

Melanocortin-4 Receptor Gene Mutations in a Dutch Cohort of Obese Children

van den Berg, L., van Beekum, O., Heutink, P., Felius, B. A., Van De Heijning, M. P. M., Strijbis, S., van Spaendonk, R. M. L., Piancatelli, D., Garner, K. M., El Aouad, R., Sistermans, E. A., Adan, R. A. H. & Delemarre-van de Waal, H. A., 2011, In : Obesity. 19, 3, p. 604-611

Research output: Contribution to journalArticleAcademicpeer-review

N-Acetylaspartylglutamate in CNS Hypomyelination

Wamelink, M. M. C., Struys, E., Holwerda, U., Sistermans, E. A., van Spaendonk, R. M. L., Halley, D., Willemsen, M. A. A. P., Jakobs, C. A. J. M., van der Knaap, M. S. & Wolf, N. I., 2011, In : Neuropediatrics. 42, 2, p. 74-77

Research output: Contribution to journalArticleAcademicpeer-review

The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits

Jansen, C., Parchi, P., Jelles, B., Gouw, A. A., Beunders, G., van Spaendonk, R. M. L., van de Kamp, J. M., Lemstra, A. W., Capellari, S. & Rozemuller, J. M., 2011, In : Neuropathology and Applied Neurobiology. 37, 5, p. 549-553

Research output: Contribution to journalArticleAcademicpeer-review

2008

Genetic subtyping of Fanconi anemia by comprehensive mutation screening

Ameziane, N., Errami, A., Leveille, F., Fontaine, C., de Vries, Y., van Spaendonk, R. M. L., de Winter, J. P., Pals, G. & Joenje, H., 2008, In : Human Mutation. 29, 1, p. 159-166

Research output: Contribution to journalArticleAcademicpeer-review