Zobrazeno 1 - 10
of 17
pro vyhledávání: '"G S, Fisch"'
Publikováno v:
American journal of medical genetics. 97(2)
Taxonomic features of fragile X syndrome (FXS) associated with the fragile X mutation have evolved over several decades. Males are more severely impacted cognitively than females, but both show declines in IQ scores as they age. Although many males w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1693f1469317e8af17a6ba4fc85d6aec
https://pubmed.ncbi.nlm.nih.gov/11180223
https://pubmed.ncbi.nlm.nih.gov/11180223
Autor:
G S, Fisch
Publikováno v:
American journal of medical genetics. 97(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::68fa54e0a537d4eddc9be1bfe7e916f3
https://pubmed.ncbi.nlm.nih.gov/11180217
https://pubmed.ncbi.nlm.nih.gov/11180217
Autor:
G S, Fisch
Publikováno v:
American journal of medical genetics. 94(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b20fb19e9a14e85b84513a0600bebc7a
https://pubmed.ncbi.nlm.nih.gov/11050620
https://pubmed.ncbi.nlm.nih.gov/11050620
Autor:
G S, Fisch
Publikováno v:
Genetic counseling (Geneva, Switzerland). 11(2)
The need for an agreed upon set of standards for assessing individuals with XLMR was made quite evident this past year at the Fragile X and XLMR Workshop in Strasbourg. Several affected individuals from different families may have been incorrectly di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d9eae5c2e39776b05e6d061b22732236
https://pubmed.ncbi.nlm.nih.gov/10893660
https://pubmed.ncbi.nlm.nih.gov/10893660
Publikováno v:
American journal of medical genetics. 84(3)
The fragile X [fra(X)] syndrome is manifested phenotypically as a developmental disability comprised mainly of moderate-to-severe mental retardation (MR). Deficits are especially evident in auditory and visual short-term memory. Recently, an FMR1 kno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2511093191e8fb544758b9206327cc48
https://pubmed.ncbi.nlm.nih.gov/10331607
https://pubmed.ncbi.nlm.nih.gov/10331607
Publikováno v:
American journal of medical genetics. 84(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8589e4a1149ab1858f5f30d15a48b347
https://pubmed.ncbi.nlm.nih.gov/10331610
https://pubmed.ncbi.nlm.nih.gov/10331610
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
Autor:
G S, Fisch, J J, Holden, N J, Carpenter, P N, Howard-Peebles, A, Maddalena, A, Pandya, W, Nance
Publikováno v:
American journal of medical genetics. 83(4)
In addition to moderate-to-severe mental retardation (MR), the fragile X [fra(X)] mutation produces significant impediments in speech and language. Severe delays in speech and language have been demonstrated in both adult males and young individuals
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6b6f6dfead2ac1b0615827a15c4b0376
https://pubmed.ncbi.nlm.nih.gov/10208157
https://pubmed.ncbi.nlm.nih.gov/10208157
Autor:
G S, Fisch, N J, Carpenter, J J, Holden, R, Simensen, P N, Howard-Peebles, A, Maddalena, A, Pandya, W, Nance
Publikováno v:
American journal of medical genetics. 83(4)
As young fully mutated fragile X [fra(X)] males age, cognitive levels (IQ scores) and adaptive behavior levels (DQ scores) decline. Given the variable behavioral profiles reported previously, we wondered whether changes in specific attributes of adap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f9fb36898a033b704d2debe10c2ca1a4
https://pubmed.ncbi.nlm.nih.gov/10208158
https://pubmed.ncbi.nlm.nih.gov/10208158
Publikováno v:
American journal of medical genetics. 64(2)
Notwithstanding the use of comparable molecular protocols, description and measurement of the fra(X) (fragile X) mutation may vary according to its appearance as a discrete band, smear, multiple bands, or mosaic. Estimation of mutation size may also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8231a32124fc597edaf224fa9796ce6d
https://pubmed.ncbi.nlm.nih.gov/8844073
https://pubmed.ncbi.nlm.nih.gov/8844073