A. M. Dereymaeker
Katholieke Universiteit Leuven
15 Papers
165 Citations
A. M. Dereymaeker is an academic researcher from Katholieke Universiteit Leuven. The author has contributed to research in topics: Population & Usher syndrome. The author has an hindex of 10, co-authored 15 publications.
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Papers
A genetic‐diagnostic survey in an institutionalized population of 173 severely mentally retarded patients
J. P. Fryns,A. Kleczkowska,A. M. Dereymaeker,M. Hoefnagels,G. Heremans,J. Marien,H. Van den Berghe +6 more
TL;DR: The etiological study was based on a clinical genetic approach with special attention for dysmorphology and neurological findings, and found a constitutional disorder, as the direct cause of the severe mental handicap, in 75 patients.
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Partial fra(X) phenotype with megalotestes in fra (X)-negative patients with acquired lesions of the central nervous system.
Jean-Pierre Fryns,A. M. Dereymaeker,M. Hoefnagels,Philip Volcke,Herman Van den Berghe,John M. Opitz,James F. Reynolds +6 more
TL;DR: The finding of megalotestes associated with a partial fra(X) phenotype in the present patients and, more particularly, the documentation of a hypothalamic tumor in the first patient, suggests that a specific hypothalamic lesion in fra( X) males is responsible for some of their manifestations.
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A genetic-diagnostic survey in an institutionalized population of 158 mentally retarded patients. The Viaene experience.
TL;DR: The etiological study was based on a clinical genetic approach with special attention to dysmorphology and neurological findings and no etiological diagnosis was detected in 28 patients; 6 of them presented a hitherto unclassifiable type of familial mental retardation.
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The Brachmann-de Lange syndrome in two siblings of normal parents
TL;DR: Two male siblings with typical Brachmann‐de Lange syndrome died at the age of 3 months and 3 weeks, and prometaphase chromosome studies failed to reveal a chromosomal basis for this unique malformation syndrome.
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The Borjeson-Forssman-Lehmann syndrome. A family study.
TL;DR: Morphological stigmata include a round, fatty face with large, somewhat protruding tongue, large normally formed ears, relative microcephaly, abundant abdominal fat, dwarfism with hyperkyphosis and short neck.
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