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1.
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.
Am J Med Genet A
; 194(4): e63478, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-37975178
2.
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Hum Genet
; 140(7): 1011-1029, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-33710394
3.
Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man.
Am J Med Genet A
; 185(7): 2164-2167, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33942960
4.
Screening of dementia indicating signs in adults with intellectual disabilities.
J Appl Res Intellect Disabil
; 34(6): 1463-1467, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-33932064
5.
Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219Arg in SLC13A5: A case report.
Am J Med Genet A
; 182(11): 2671-2674, 2020 11.
Article
in English
| MEDLINE | ID: mdl-33200910
6.
Ageing and cognition in men with fragile X syndrome.
J Appl Res Intellect Disabil
; 33(5): 1113-1118, 2020 Sep.
Article
in English
| MEDLINE | ID: mdl-32281257
7.
Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB).
Am J Med Genet A
; 179(12): 2481-2485, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31580529
8.
A 69-year-old woman with Coffin-Siris syndrome.
Am J Med Genet A
; 176(8): 1764-1767, 2018 08.
Article
in English
| MEDLINE | ID: mdl-30055038
9.
Age at Death in Individuals with Intellectual Disabilities.
J Appl Res Intellect Disabil
; 30(4): 782-785, 2017 Jul.
Article
in English
| MEDLINE | ID: mdl-27364954
10.
[Cannabinoid mouth spray brought help to a severely spastic young man]. / Kannabinoidi-suusuihke toi avun vaikeasti spastiselle nuorelle miehelle.
Duodecim
; 130(14): 1452-4, 2014.
Article
in Fi
| MEDLINE | ID: mdl-25158585
11.
[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities]. / Monivammaisuuden taustalla Allan-Herndon-Dudleyn oireyhtymä.
Duodecim
; 130(21): 2202-5, 2014.
Article
in Fi
| MEDLINE | ID: mdl-25582014
12.
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.
Sci Rep
; 14(1): 11239, 2024 05 16.
Article
in English
| MEDLINE | ID: mdl-38755281
13.
Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup).
Case Rep Genet
; 2023: 3636748, 2023.
Article
in English
| MEDLINE | ID: mdl-36816814
14.
Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome.
Clin Case Rep
; 9(8): e04602, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-34457282
15.
Neurocognitive follow-up in adult siblings with Phelan-McDermid syndrome due to a novel SHANK3 splicing site mutation.
Mol Genet Genomic Med
; 9(12): e1780, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34369668
16.
[Modified Atkins diet brought back the joy of life to a developmentally severely disabled youth]. / Muunnettu Atkinsin dieetti toi elämänilon syvästi kehitysvammaiselle nuorukaiselle.
Duodecim
; 126(5): 557-60, 2010.
Article
in Fi
| MEDLINE | ID: mdl-20597309
17.
Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion.
Eur J Med Genet
; 63(10): 104010, 2020 Oct.
Article
in English
| MEDLINE | ID: mdl-32688058
18.
Bone mineral density and sex hormone status in intellectually disabled women on progestin-induced amenorrhea.
Acta Obstet Gynecol Scand
; 88(4): 428-33, 2009.
Article
in English
| MEDLINE | ID: mdl-19330573
19.
Cognition in adults with Williams syndrome-A 20-year follow-up study.
Mol Genet Genomic Med
; 7(6): e695, 2019 06.
Article
in English
| MEDLINE | ID: mdl-31033253
20.
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females.
Life Sci Alliance
; 2(4)2019 08.
Article
in English
| MEDLINE | ID: mdl-31439632