Search Results - "Begeer, J H"

A new leukoencephalopathy with vanishing white matter by VAN DER KNAAP, M. S, BARTH, P. G, GABREËLS, F. J. M, FRANZONI, E, BEGEER, J. H, STROINK, H, ROTTEVEEL, J. J, VALK, J

“…We identified nine children with a leukoencephalopathy of similar type according to clinical and MRI findings. The patients included three affected sibling…”
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Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities by van der Knaap, M S, Smit, L M, Barth, P G, Catsman-Berrevoets, C E, Brouwer, O F, Begeer, J H, de Coo, I F, Valk, J

“…A survey was performed of magnetic resonance imaging (MRI) findings in 21 patients with congenital muscular dystrophy (CMD) with cerebral abnormalities to…”
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The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2) : compiled data from 10 pedigrees by BARTH, P. G, BLENNOW, G, LENARD, H.-G, BEGEER, J. H, VAN DER KLEY, J. M, HANEFELD, F, PETERS, A. C. B, VALK, J

“…The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, severely impaired mental and motor development, and extrapyramidal dyskinesia is…”
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Perinatal motor behaviour and neurological outcome in spina bifida aperta by Sival, D.A., Begeer, J.H., Staal-Schreinemachers, A.L., Vos-Niël, J.M.E., Beekhuis, J.R., Prechtl, H.F.R.

“…Aim of the study: In the present longitudinal study we investigated the relationship between prenatal motor behaviour and the postnatal neurological sequelae…”
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11q- syndrome: three cases and a review of the literature by Leegte, B, Kerstjens-Frederikse, W S, Deelstra, K, Begeer, J H, van Essen, A J

“…We report on three children with de novo terminal deletions of the long arm of chromosome 11 (11q-) and breakpoints in 11q23-q24. Eighty-nine other patients…”
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Apparent SMA I unlinked to 5q by Cobben, J M, Scheffer, H, de Visser, M, Begeer, J H, Molenaar, W M, van der Steege, G, Buys, C H, van Ommen, G J, Ten Kate, L P

“…A proband with a clinical picture indistinguishable from SMA type I is described. The parents are second cousins. On DNA analysis it appeared that the proband…”
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Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy by Begeer, J H, Scholte, F A, van Essen, A J

“…Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness,…”
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Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene by Verhoef, S., Vrtel, R., Bakker, L., Stolte-Dijkstra, I., Nellist, M., Begeer, J.H., Zaremba, J., Jozwiak, S., Tempelaars, A.M.P., Lindhout, D., Halley, D.J.J., van den Ouweland, A.M.W.

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Intracranial tuberculosis in the Netherlands : four paediatric cases by VAN WOENSEL, J. B. M, HOOGEVEN, C. G, BEGEER, J. H, VISSER, G, KIMPEN, J. L. L

“…Since 1987 a resurgence of tuberculosis is occurring in the Netherlands in analogy to the situation in other industralised countries. So far this has not been…”
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Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and hypogonadism by Scholte, F A, Begeer, J H, Essen, A J Van

“…A patient is described with severe mental retardation, a peculiar face with small palpebral fissures and premature balding, habitual patella luxations, small…”
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Hyperacusis in children with spina bifida; a pilot-study by Oen, J M, Begeer, J H, Staal-Schreinemachers, A I, Tijmstra, T

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Signs of focal posterior cerebral abnormality in early subacute sclerosing panencephalitis by Begeer, J H, Haaxma, R, Snoek, J W, Boonstra, S, le Coultre, R

“…In 16 cases of subacute sclerosing panencephalitis (SSPE), praxis and visual spatial capacities were more impaired early in the disease than were language…”
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Acute cerebellar ataxia in a child with transient pontine lesions demonstrated by MRI by Groen, R J, Begeer, J H, Wilmink, J T, le Coultre, R

“…A case of acute cerebellar ataxia with discrete signs of pyramidal and tegmental involvement is reported, several days after recovery from an upper respiratory…”
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Metachromatic leukodystrophy and coincidental finding of papillomatosis of the gallbladder. A case report by Fock, J M, Begeer, J H, Prins, T R

“…In this case report we describe the coincidental finding of polyps in the gallbladder by ultrasound investigation in a six-year-old girl, known to have…”
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Vanishing calcification of the brain in an infant after open heart surgery by BEGEER, J. H, RUTGERS, A. W. F, VENCKEN, L. M, HOORNTJE, T. M, MEUZELAAR, J. J, WOLTERSOM-ZWIERZYNSKA, B. D

“…Neurological complications after cardiac operations with the aid of cardiopulmonary bypass and hypothermia are well known. A 6 months-old child is described…”
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Growth and the tethered cord syndrome by Begeer, J H, Schreinemachers, A L, Terwisga, P H

“…We investigated the role of growth in relation to the tethered cord syndrome. By investigation of the growth curve in relation to the operation date we could…”
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Unexplained chronic subarachnoid bleeding and a slowly progressive neurological syndrome by Zwarts, M J, Begeer, J H, Le Coultre, R

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Cranio-vertebral pathology in Down syndrome by Braakhekke, J P, Gabreëls, F J, Renier, W O, van Rens, T J, Thijssen, H O, Begeer, J H

“…Cranio-vertebral malformations, especially atlanto-axial dislocation, are frequently seen in Down patients. However, symptomatic forms in mongolism are rare…”
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Early infantile form of neuronal ceroid lipofuscinosis. Four Dutch cases and review of the literature by Jongen, P J, Gabreëls, F J, Stekhoven, J H, Renier, W O, le Coultre, R, Begeer, J H

“…In this paper four Dutch cases of early infantile neuronal ceroid lipofuscinosis (NCL) are described, all being boys. NCL is a group of diseases…”
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Behavioural disturbances after effective ACTH-treatment of the dancing-eyes syndrome by Rutgers, A W, Links, T P, le Coultre, R, Begeer, J H

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