Zobrazeno 1 - 10
of 120
pro vyhledávání: '"M, Borghgraef"'
Autor:
G S, Fisch, N, Carpenter, J J, Holden, P N, Howard-Peebles, A, Maddalena, M, Borghgraef, J, Steyaert, J P, Fryns
Publikováno v:
American journal of medical genetics. 83(4)
In prospective studies of young, fragile X [fra(X)] males with the full mutation, cognitive abilities (IQ scores) and adaptive behavior levels (DQ scores) declined in most subjects tested. Little is known about longitudinal changes in IQ and DQ score
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::261995763a02cd13b19498bc7bee95a4
https://pubmed.ncbi.nlm.nih.gov/10208167
https://pubmed.ncbi.nlm.nih.gov/10208167
Publikováno v:
Journal of intellectual disability research : JIDR. 42
Six people with Prader-Willi syndrome (PWS) who developed psychoses are described. Along with other literature reviewed in the present paper, the results imply an association between PWS and psychotic symptoms. Genetic studies were possible in five c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b812bc720850ccc5f917bc0bc9c35e39
https://pubmed.ncbi.nlm.nih.gov/10030439
https://pubmed.ncbi.nlm.nih.gov/10030439
Publikováno v:
Genetic counseling (Geneva, Switzerland). 7(1)
In this study we evaluated the temperament characteristics of a group of 13 subjects with Williams-Beuren syndrome (WBS) and compared the results to the findings in a control group of 13 individuals with the same degree of mental retardation of diffe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::289b57044a141bfbaaa44472b0349c08
https://pubmed.ncbi.nlm.nih.gov/8652087
https://pubmed.ncbi.nlm.nih.gov/8652087
Publikováno v:
Genetic counseling (Geneva, Switzerland). 6(2)
In this report we present data on the longitudinal evolution of the mental versus the chronological age in 10 fragile X boys diagnosed before the age of 6 years and compare these findings to the longitudinal evolution in children with Down syndrome (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3d541849368770b0c6778ea850d87b87
https://pubmed.ncbi.nlm.nih.gov/7546457
https://pubmed.ncbi.nlm.nih.gov/7546457
Autor:
M J, Descheemaeker, A, Swillen, L, Plissart, M, Borghgraef, S, Rasenberg, L M, Curfs, J P, Fryns
Publikováno v:
Genetic counseling (Geneva, Switzerland). 5(2)
The Prader-Willi syndrome is characterized by four cardinal symptoms i.e. hypotonia, hypogonadism, mental retardation and extreme obesity. Behavioural and psychological problems are frequent in these patients, mostly related to the withholding of foo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::df18619b769f0b2b766c8c03ce18bb25
https://pubmed.ncbi.nlm.nih.gov/7917134
https://pubmed.ncbi.nlm.nih.gov/7917134
Publikováno v:
Genetic counseling (Geneva, Switzerland). 4(2)
We report on a girl with a terminal deletion (46,XX,del(4)(q33--ter). She presented with developmental delay and slight facial dysmorphism. The clinical features are compared with the patients in the literature and a review of the psychologic data is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::55707c4c80a496cb052f2f08f4283be9
https://pubmed.ncbi.nlm.nih.gov/7689326
https://pubmed.ncbi.nlm.nih.gov/7689326
Publikováno v:
Birth defects original article series. 28(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7b33c8363ae1828fc0e0c613045b9371
https://pubmed.ncbi.nlm.nih.gov/1340240
https://pubmed.ncbi.nlm.nih.gov/1340240
Autor:
M, Borghgraef, J P, Fryns
Publikováno v:
Birth defects original article series. 28(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3bfc3a069eced8615b241084572c9856
https://pubmed.ncbi.nlm.nih.gov/1340239
https://pubmed.ncbi.nlm.nih.gov/1340239
Publikováno v:
Genetic counseling (Geneva, Switzerland). 2(2)
In this study we report the physical and psychological findings in 4 males with 48,XXYY syndrome. They were diagnosed at the ages of 4, 6, 18 and 25 years respectively. The major indication for chromosomal analysis in these four slightly mentally ret
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d97906172efcc079522643a4aa45f96b
https://pubmed.ncbi.nlm.nih.gov/1781953
https://pubmed.ncbi.nlm.nih.gov/1781953
Publikováno v:
Genetic counseling (Geneva, Switzerland). 1(2)
In this report, we summarize the clinical and psychological follow-up data over a period of 6 to 9 years of three girls with ring chromosome 15. Ring chromosome 15 in these children was associated with marked symmetrical growth retardation without ob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8b3cddcdd9d7fe7f80009d56a8310edf
https://pubmed.ncbi.nlm.nih.gov/2081000
https://pubmed.ncbi.nlm.nih.gov/2081000