Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Lmg Curfs"'
Publikováno v:
Acta neuropsychiatrica. 10(4)
SUMMARYDescription of psychopathological symptoms in mentally retarded subjects is of great heuristic value because of the association with a known genetic disorder as well as the heterogenous and atypical phenomenology. The concept of behavioural ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e03e2569159df1a0c1a7bb305166a00
https://pubmed.ncbi.nlm.nih.gov/26971893
https://pubmed.ncbi.nlm.nih.gov/26971893
Publikováno v:
Kind en adolescent. 15:17-22
Het syndroom van Williams-Beuren is een vorm van congenitale mentale retardatie, gekenmerkt door een specifieke associatie van lichaamsafwijkingen en dysmorfieen. Het cognitief functioneren valt op door een hoog verbaal functioneren contrasterend met
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e38869f35932c065d0c5a374c13f7e81
https://doi.org/10.1007/bf03060535
https://doi.org/10.1007/bf03060535
Publikováno v:
American Journal of Medical Genetics. 47:216-220
In this study we present data on the adaptive behavior profile and on the development of adaptive functioning in 39 fragile X [fra(X)] males, age 4–26 years. Social adaptability is relatively well developed as compared to cognitive level and especi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91d41170d26daa645d5d1128f54faac2
https://doi.org/10.1002/ajmg.1320470215
https://doi.org/10.1002/ajmg.1320470215
Autor:
Lmg Curfs, Lawrence R. Shapiro, C. E. Schwartz, Martine Borghgraef, Gene S. Fisch, Richard J. Simensen, Tadao Arinami, Patricia N. Howard-Peebles, Ursula Froster-Iskenius, Jean-Pierre Fryns
Publikováno v:
American Journal of Medical Genetics. 38:481-487
Longitudinal decline in IQ among fragile X males was reported recently. However, there are problems in retesting IQ that may affect scores. Two such factors are intertest time interval and score obtained on the first test. To determine the generality
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da0aa1e1b52d16fc786be11a2497f646
https://doi.org/10.1002/ajmg.1320380268
https://doi.org/10.1002/ajmg.1320380268
Autor:
C.E.M. de Die-Smulders, A. J. H. Hamers, J. J. M. Engelen, R. Dirckx, Siegfried Tuinier, W.M.A. Verhoeven, Lmg Curfs
Publikováno v:
American Journal of Medical Genetics, 109, 149-153. Wiley-Liss Inc.
We report a 40-year-old female with mild mental retardation and behavior problems and her 6-year-old daughter. Chromosome analysis showed that both patients had a proximal duplication in the short arm of chromosome 16. The aberration was characterize
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abab872229f76d9c4d3dac7fd5729f6f
https://pubmed.ncbi.nlm.nih.gov/11977164
https://pubmed.ncbi.nlm.nih.gov/11977164
Publikováno v:
Clinical Genetics. 43:326-327
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::662546e3b80e469a525059fe5b884a3d
https://doi.org/10.1111/j.1399-0004.1993.tb03830.x
https://doi.org/10.1111/j.1399-0004.1993.tb03830.x
Publikováno v:
Journal of Intellectual Disability Research, 39, 241-248. Blackwell science ltd
Journal of Intellectual Disability Research, 39, pp. 241-248
Journal of Intellectual Disability Research, 39, pp. 241-248
Item does not contain fulltext For the study of the personality profile of youngsters with Prader-Willi syndrome (PWS), a PWS group was compared with a matched group of youngsters attending regular school. The PWS group consisted of 28 youngsters (12
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c79901479ce860b25269c7befbec7b71
http://hdl.handle.net/2066/29082
http://hdl.handle.net/2066/29082
Autor:
Martine Borghgraef, Patricia N. Howard-Peebles, Tadao Arinami, Lawrence R. Shapiro, C. E. Schwartz, J. P. Fryns, Lmg Curfs, Ariadni Mavrou, Gene S. Fisch, Richard J. Simensen
Publikováno v:
American journal of medical genetics. 43(1-2)
Longitudinal changes in IQ among mentally retarded (MR) fragile X [fra(x)] males have been reported previously. While age is associated with decline in IQ, not all males are so affected. This suggests that there may be more than one subtype of affect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1683f240bad79f694fed1244d781f62c
https://pubmed.ncbi.nlm.nih.gov/1605202
https://pubmed.ncbi.nlm.nih.gov/1605202
Publikováno v:
Clinical genetics. 40(6)
In this report we present the results of a study of the intellectual functioning and cognitive profile of 26 Prader-Willi syndrome (PWS) patients. The mean IQ score was 62.3 (range 39-96). In 13 patients a significant difference between verbal and pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdc596aad346ac4fbc11c8705a751985
https://pubmed.ncbi.nlm.nih.gov/1778005
https://pubmed.ncbi.nlm.nih.gov/1778005