Detalhe da pesquisa
1.
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2.
PLoS Genet
; 18(6): e1010278, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35727845
2.
Anxiety in Wiedemann-Steiner syndrome.
Am J Med Genet A
; 191(2): 437-444, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373844
3.
The social phenotype associated with Wiedemann-Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality.
Am J Med Genet A
; 191(10): 2591-2601, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470210
4.
Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing.
J Int Neuropsychol Soc
; 29(5): 512-518, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36062544
5.
[Increased use of genetic health care in Iceland 2012-2017].
Laeknabladid
; 108(1): 11-16, 2022 Jan.
Artigo
em Is
| MEDLINE | ID: mdl-34927600
6.
The Mendelian disorders of the epigenetic machinery.
Genome Res
; 25(10): 1473-81, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26430157
7.
Associations Between Executive Functioning, Behavioral Functioning, and Adaptive Functioning Difficulties in Wiedemann-Steiner Syndrome.
Arch Clin Neuropsychol
; 39(2): 186-195, 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37565480
8.
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.
Eur J Hum Genet
; 32(1): 44-51, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37684520
9.
Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases.
JIMD Rep
; 64(1): 65-70, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36636586
10.
Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse model.
Clin Epigenetics
; 15(1): 172, 2023 10 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37884963
11.
SMYD5 is a novel epigenetic gatekeeper of the mild hypothermia response.
bioRxiv
; 2023 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37333301
12.
Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome.
Front Genet
; 13: 950082, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36313433
13.
Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature.
Front Genet
; 13: 1007046, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36276984
14.
Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia.
Mol Genet Genomic Med
; 10(7): e1971, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35712814
15.
A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries.
PLoS Genet
; 4(6): e1000099, 2008 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-18566660
16.
Inhibition of KDM1A activity restores adult neurogenesis and improves hippocampal memory in a mouse model of Kabuki syndrome.
Mol Ther Methods Clin Dev
; 20: 779-791, 2021 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33738331
17.
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.
Mol Genet Genomic Med
; 8(2): e1072, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31814321
18.
Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.
JIMD Rep
; 44: 9-15, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-29923087
19.
[Playing god - progress in genomic medicine].
Laeknabladid
; 105(3): 111, 2019.
Artigo
em Is
| MEDLINE | ID: mdl-30806627