Search Results - "GRUBBEN, C"

The variable clinical spectrum and mental prognosis of the acrocallosal syndrome by Fryns, J P, Spaepen, A, Grubben, C, van den Berghe, H, Casaer, P

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Handedness not related to foetal position by Vles, J S, Grubben, C P, Hoogland, H J

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Severe pre- and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entity by Grubben, C, de Cock, P, Borghgraef, M, van den Berghe, H, Fryns, J P

“…We report on three young children, two girls and one boy, with pre- and postnatal growth deficiency, hypotonia, psychomotor retardation with notably impaired…”
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Anterior basal encephalocele in the median cleft face syndrome. Comments on nosology and treatment by Grubben, C, Fryns, J P, De Zegher, F, Van Den Berghe, H

“…Two cases of median cleft syndrome with associated basal encephalocele are presented. The median cleft face syndrome consists of several craniofacial defects…”
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Holocord astrocytomas in childhood by Vles, J S, Grubben, C P, van Ooy, A, Weil, E H

“…In this case report, we present a patient with a low-grade holocord astrocytoma. Therapy and its consequences are discussed…”
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Noonan phenotype in the basal cell nevus syndrome by Grubben, C, Fryns, J P, Smeets, E, Van den Berghe, H

“…In this report we present a three-generation family in which five members present the basal cell nevus syndrome. In three of them a Noonan phenotype was…”
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The echographic diagnosis of fetal akinesia. A challenge towards etiological diagnosis and management by Grubben, C, Gyselaers, W, Moerman, P, Vandenberghe, K, Fryns, J P

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Corpus callosum agenesis, spastic quadriparesis and irregular lining of the lateral ventricles on CT-scan. A distinct X-linked mental retardation syndrome? by Vles, J S, Fryns, J P, Folmer, K, Boon, P, Buttiens, M, Grubben, C, Janevski, B

“…This report gives a description of 4 male patients, two of whom are sibs, two of whom are uncle and cousin. They appear to have psychomotor retardation,…”
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Penile enlargement in tetrasomy 18p: an additional feature? by Fryns, J P, Grubben, C, Van Den Berghe, H

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Genetic heterogeneity of familial hemiplegic migraine by Ophoff, R A, van Eijk, R, Sandkuijl, L A, Terwindt, G M, Grubben, C P, Haan, J, Lindhout, D, Ferrari, M D, Frants, R R

“…Familial hemiplegic migraine (FHM) is a distinctive form of migraine with an autosomal dominant mode of inheritance. The migraine-like attacks are associated…”
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Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene : a European study by VAN ESSEN, A. J, ABBS, S, FERRARI, M, FERLINI, A, GALLUZZI, G, GRIMM, T, GRUBBEN, C, JEANPIERRE, M, KÄÄRIÄINEN, H, LIECHTI-GALLATI, S, MELIS, M. A, VAN OMMEN, G.-J. B, BAIGET, M, PONCIN, J. E, SCHEFFER, H, SCHWARTZ, M, SPEER, A, STUHRMANN, M, VERELLEN-DUMOULIN, C, WILCOX, D. E, TEN KATE, L. P, BAKKER, E, BOILEAU, C, VAN BROECKHOVEN, C, BUSHBY, K, CLARKE, A, CLAUSTRES, M, COVONE, A. E

“…Knowledge about the parental origin of new mutations and the occurrence of germline mosaicism is important for estimating recurrence risks in Duchenne (DMD)…”
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Pathophysiology and clinical significance of the abdominal compartment syndrome by Grubben, A C, van Baardwijk, A A, Broering, D C, Hoofwijk, A G

“…Different causes, for example posttraumatic and postoperative complications, can lead to an elevated intra-abdominal pressure. Increased intraabdominal…”
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Simple diagnosis and treatment of the abdominal compartment syndrome by Grubben, A C, Broering, D C

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