Search Results - "GILHUIS, H. J"

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    Congenital myopathy caused by a novel missense mutation in the CFL2 gene by Ockeloen, C.W, Gilhuis, H.J, Pfundt, R, Kamsteeg, E.J, Agrawal, P.B, Beggs, A.H, Dara Hama-Amin, A, Diekstra, A, Knoers, N.V.A.M, Lammens, M, van Alfen, N

    Published in Neuromuscular disorders : NMD (01-07-2012)
    “…Abstract Nemaline myopathy and myofibrillar myopathy are heterogeneous myopathies that both comprise early-onset forms. We present two sisters from a…”
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    Spontaneous intracranial hypotension in a patient with classical type Ehlers-Danlos syndrome by Grosveld, W J H M, Gilhuis, H J, Voermans, N C

    Published in Neurology India (01-07-2011)
    “…Physical examination revealed typical features of classical type EDS: hyperextensible skin, generalized joint hypermobility, and widened atrophic scars and no…”
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    Inverse correlation between genetic aberrations and malignancy grade in ependymal tumors: a paradox? by GILHUIS, H. J, VAN DER LAAK, J, WESSELING, P, BOERMAN, R. H, BEUTE, G, TEEPEN, J. L. M. J, GROTENHUIS, J. A, KAPPELLE, A. C

    Published in Journal of neuro-oncology (2004)
    “…The goal of our study was to investigate the inverse correlation between number of genetic aberrations and malignancy grade in ependymal tumors at the ploidy…”
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    Respiratory function in facioscapulohumeral muscular dystrophy 1 by Wohlgemuth, M, Horlings, C.G.C, van der Kooi, E.L, Gilhuis, H.J, Hendriks, J.C.M, van der Maarel, S.M, van Engelen, B.G.M, Heijdra, Y.F, Padberg, G.W

    Published in Neuromuscular disorders : NMD (01-06-2017)
    “…Highlights • This is the largest study on pulmonary function in FSHD1 patients. • All ambulatory FSHD1 patients have normal pulmonary function. •…”
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    Differential patterns of insulin-like growth factor-I and -II mRNA expression in medulloblastoma by Van Doorn, J., Gilhuis, H. J., Koster, J. G., Wesseling, P., Reddingius, R. E., Gresnigt, M. G., Bloemen, R. J., Van Muijen, G. N. P., Van Buul-Offers, S. C.

    Published in Neuropathology and applied neurobiology (01-10-2004)
    “…Insulin‐like growth factors (IGFs) play an important role in tumour growth and development. We hypothesized that this is also the case for medulloblastomas,…”
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    Comparative genomic hybridization of medulloblastomas and clinical relevance: eleven new cases and a review of the literature by Gilhuis, H.J, Anderl, K.L, Boerman, R.H, Jeuken, J.M, James, C.D, Raffel, C, Scheithauer, B.W, Jenkins, R.B

    Published in Clinical neurology and neurosurgery (01-12-2000)
    “…Medulloblastomas are highly malignant primitive neuroectodermal tumors of the cerebellum that display a wide variety of histopathological patterns. However,…”
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    Genetic reflection of glioblastoma biopsy material in xenografts : characterization of 11 glioblastoma xenograft lines by comparative genomic hybridization by JEUKEN, J. W. M, SPRENGER, S. H. E, WESSELING, P, BERNSEN, H. J. J. A, SUIJKERBUIJK, R. F, ROELOFS, F, MACVILLE, M. V. E, GILHUIS, H. J, VAN OVERBEEKE, J. J, BOERMAN, R. H

    Published in Journal of neurosurgery (01-04-2000)
    “…Human tumors implanted as subcutaneous xenografts in nude mice are widely used for the study of tumor biology and therapy. Validation of these models requires…”
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    Demyelinating polyneuropathy in Leber hereditary optic neuropathy by Gilhuis, H.J., Schelhaas, H.J., Cruysberg, J.R.M., Zwarts, M.J.

    Published in Neuromuscular disorders : NMD (01-06-2006)
    “…We report a patient with Leber hereditary optic neuropathy (G11778A mtDNA) and a severe demyelinating neuropathy, for which no other cause except his…”
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    Contralateral reinnervation of midline muscles in facial paralysis by Gilhuis, H. Jacobus, Beurskens, Carien H.G., Marres, Henri A.M., de Vries, Joost, Hartman, Ed H.M., Zwarts, Machiel J.

    Published in Muscle & nerve (01-12-2001)
    “…We report on a patient with recovery of activity of the left orbicularis oris and nasalis muscles 3 months after a complete left facial palsy. Stimulation of…”
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    Nonmuscular involvement in merosin-negative congenital muscular dystrophy by Gilhuis, H.Jacobus, ten Donkelaar, Hans J, Tanke, Ronald B, Vingerhoets, Dick M, Zwarts, Machiel J, Verrips, Aad, Gabreëls, Fons J.M

    Published in Pediatric neurology (2002)
    “…The spectrum of nonmuscular involvement in six children with merosin-negative congenital muscular dystrophy is described. In all children, biochemical,…”
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    The relationship between genetic aberrations as detected by Comparative Genomic Hybridization and vascularization in glioblastoma xenografts by GILHUIS, H. Jacobus, BERNSEN, Hans J. J. A, JEUKEN, Judith W. M, WESSELING, Pieter, SPRENGER, Sandra H. E, KERSTENS, Harold M. J, WIEGANT, Joop, BOERMAN, Rudolf H

    Published in Journal of neuro-oncology (2001)
    “…Angiogenesis is of vital importance for the growth of solid tumors and constitutes a target for anti-cancer therapy. Glioblastomas (GBMs) are histologically…”
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    Neurological symptoms as the first sign of prostate carcinoma by Gilhuis, H J, Otaredian, I, Pomp, J, Sillevis Smitt, P A E

    Published in Nederlands tijdschrift voor geneeskunde (15-04-2006)
    “…Three male patients aged 82, 56 and 60 years presented with cognitive impairment and hemiparesis, weakness of the tongue and facial muscles, and pain and…”
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    Interstitial 6q deletion with a Prader--Willi-like phenotype: a new case and review of the literature by Jacobus Gilhuis, H., Ma van Ravenswaaij, Conny, Hamel, Ben J.C., Gabreëls, Fons J.M.

    Published in European journal of paediatric neurology (01-01-2000)
    “…We report on an additional fourth case of Prader–Willi (PW)-like phenotype and an interstitial deletion of 6q. Despite sharing clinical characteristics,…”
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