20112019
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Research Output 2011 2019

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

De novo SPAST mutations may cause a complex SPG4 phenotype

Schieving, J. H., de Bot, S. T., van de Pol, L. A., Wolf, N. I., Brilstra, E. H., Frints, S. G., van Gaalen, J., Misra-Isrie, M., Pennings, M., Verschuuren-Bemelmans, C. C., Kamsteeg, E-J., van de Warrenburg, B. P. & Willemsen, M. A., 2019, In : Brain. 142, 7, p. e31

Research output: Contribution to journalArticleAcademicpeer-review

Myotonic dystrophy presenting as severely dilated cardiomyopathy with out-of-hospital cardiac arrest

Isrie, M., Wong, L., van Hagen, J. M. & Houweling, A. C., 2019, In : Netherlands Heart Journal. 27, 1, p. 54-55

Research output: Contribution to journalComment/Letter to the editorAcademic

2017

Phenotypes and genotypes in individuals with SMC1A variants

Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A. M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S. & 28 othersHorn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Oliver, C., Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C., 1 Aug 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2108-2125 18 p.

Research output: Contribution to journalArticleAcademicpeer-review

2016

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

Siekierska, A., Isrie, M., Liu, Y., Scheldeman, C., Vanthillo, N., Lagae, L., Witte, P. A. M. D., Esch, H. V., Goldfarb, M. & Buyse, G. M., 7 Jun 2016, In : Neurology. 86, 23, p. 2162-2170 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in cep120 cause joubert syndrome as well as complex ciliopathy phenotypes

Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., Keersmaecker, B. D., Kayserili, H., Brandenberger, S., Kraoua, I., Mark, P. R., McKanna, T., Keirsbilck, J. V., Moerman, P., Poretti, A. & 4 othersPuri, R., Esch, H. V., Gleeson, J. G. & Valente, E. M., 1 Sep 2016, In : Journal of Medical Genetics. 53, 9, p. 608-615 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

2015

Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities

Isrie, M., Zamani Esteki, M., Peeters, H., Voet, T., Van Houdt, J., Van Paesschen, W. & Van Esch, H., 1 Jan 2015, In : European Journal of Medical Genetics. 58, 4, p. 205-210 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Isrie, M., Breuss, M., Tian, G., Hansen, A. H., Cristofoli, F., Morandell, J., Kupchinsky, Z. A., Sifrim, A., Rodriguez-Rodriguez, C. M., Dapena, E. P., Doonanco, K., Leonard, N., Tinsa, F., Moortgat, S., Ulucan, H., Koparir, E., Karaca, E., Katsanis, N., Marton, V., Vermeesch, J. R. & 4 othersDavis, E. E., Cowan, N. J., Keays, D. A. & Van Esch, H., 3 Dec 2015, In : American journal of human genetics. 97, 6, p. 790-800 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

2014

Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations

Isrie, M., Wuyts, W., Van Esch, H. & Devriendt, K., 1 Jan 2014, In : American Journal of Medical Genetics, Part A. 164, 6, p. 1576-1579 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Pseudoautosomal Region 1 Length Polymorphism in the Human Population

Mensah, M. A., Hestand, M. S., Larmuseau, M. H. D., Isrie, M., Vanderheyden, N., Declercq, M., Souche, E. L., Van Houdt, J., Stoeva, R., Van Esch, H., Devriendt, K., Voet, T., Decorte, R., Robinson, P. N. & Vermeesch, J. R., 1 Jan 2014, In : PLoS Genetics. 10, 11

Research output: Contribution to journalArticleAcademicpeer-review

2013

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability

Isrie, M., Kalscheuer, V. M., Holvoet, M., Fieremans, N., Van Esch, H. & Devriendt, K., 1 Jul 2013, In : European Journal of Medical Genetics. 56, 7, p. 379-382 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

2012

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

Isrie, M., Hendriks, Y., Gielissen, N., Sistermans, E. A., Willemsen, M. H., Peeters, H., Vermeesch, J. R., Kleefstra, T. & Van Esch, H., 2012, In : European Journal of Human Genetics. 20, 2, p. 131-133

Research output: Contribution to journalArticleAcademicpeer-review

Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants

Isrie, M., Froyen, G., Devriendt, K., de Ravel, T., Fryns, J. P., Vermeesch, J. R. & Van Esch, H., 1 Nov 2012, In : European Journal of Medical Genetics. 55, 11, p. 577-585 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

2011

ATR-X syndrome in two siblings with a novel mutation (C.6718C>T mutation in exon 31)

Thakur, S., Ishrie, M., Saxena, R., Danda, S., Linda, R., Viswabandya, A. & Verma, I. C., 1 Oct 2011, In : Indian Journal of Medical Research. 134, 10, p. 483-486 4 p.

Research output: Contribution to journalArticleAcademicpeer-review