Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Oili Sauna-aho"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Abstract Background Phelan–McDermid syndrome (PMD) is usually not only caused by 22q13.3 deletion but also pathogenic variants (mutations) of SHANK3 gene. PMD is characterized by global intellectual disability, severely delayed or absent speech, an
Externí odkaz:
https://doaj.org/article/622024943e5f4ca08ceda7b30ed60b6e
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Abstract Background Williams syndrome (WBS) is a genetic multisystem disorder. The main symptom is borderline (intelligence quotient, IQ 70–79) or abnormally low intelligence (IQ
Externí odkaz:
https://doaj.org/article/a87bba0d6d444c00b59a2d6c8e3c94be
Publikováno v:
SAGE Open Medical Case Reports, Vol 6 (2018)
We describe here the clinical outcome of four women with epilepsy with eyelid myoclonia (aged 21–53 years). All patients had an uneventful early history, normal physical growth and appearance and no comorbid sensory or motor disability and normal b
Externí odkaz:
https://doaj.org/article/66173e26b5514a60929c4e056e6983c3
Publikováno v:
Journal of Applied Research in Intellectual Disabilities. 33:1113-1118
Background: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. The aim of our longitudinal study was to describe ageing‐related cognitive changes in men with FXS. Method: A neuropsychologist determined the raw s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5d5822595a9d4d2864e3e0ffc4817ca
https://doi.org/10.1111/jar.12733
https://doi.org/10.1111/jar.12733
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Background Phelan–McDermid syndrome (PMD) is usually not only caused by 22q13.3 deletion but also pathogenic variants (mutations) of SHANK3 gene. PMD is characterized by global intellectual disability, severely delayed or absent speech, and feature
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b3e896d5174f099b051ca9f5c38988d
https://doi.org/10.1002/mgg3.1780
https://doi.org/10.1002/mgg3.1780
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Background: Williams syndrome (WBS) is a genetic multisystem disorder. The main symptom is borderline (intelligence quotient, IQ 70–79) or abnormally low intelligence (IQ < 70). According to earlier studies young individuals with WBS demonstrate ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1f6d79ea788a355c88049353a733700
http://hdl.handle.net/10138/311595
http://hdl.handle.net/10138/311595
Publikováno v:
SAGE Open Medical Case Reports, Vol 6 (2018)
SAGE Open Medical Case Reports
SAGE Open Medical Case Reports
We describe here the clinical outcome of four women with epilepsy with eyelid myoclonia (aged 21–53 years). All patients had an uneventful early history, normal physical growth and appearance and no comorbid sensory or motor disability and normal b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b43e80a0bfe4b667a248e121a39c34b0
http://hdl.handle.net/10138/290320
http://hdl.handle.net/10138/290320
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Intellectual disability (ID) and dementia reflect disturbed cortical function during and after developmental age, respectively. Due to the wide heterogeneity of ID population the decline in cognitive and adaptive skills may be different in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c4a46621d88e1b960c5264919e3419e
https://pubmed.ncbi.nlm.nih.gov/29971948
https://pubmed.ncbi.nlm.nih.gov/29971948
Publikováno v:
Neuropsychiatry.
Diagnostics is cumbersome in intellectually disabled patients experiencing neuropsychiatric symptoms because of overlapping disorders and also because of the age-dependent terminology. In adults conditions leading to cognitive decline are called deme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::706f1d9a70fe2a053c22fd2343988abe
https://doi.org/10.4172/neuropsychiatry.1000281
https://doi.org/10.4172/neuropsychiatry.1000281
Publikováno v:
NeuroImage. 35:1547-1550
Down syndrome (DS) is characterized by intellectual disability and development of dementia that are attributed to similar neuropathological features as observed in Alzheimer's disease (AD). The aim of this study was to investigate whether DS patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e3b08cc914379cf9cefdbd9b09e02d2
https://doi.org/10.1016/j.neuroimage.2007.01.036
https://doi.org/10.1016/j.neuroimage.2007.01.036