Epigenetiske mekanismer som fremmer eller hindrer forekomst av lærevansker og adferdsavvik ved genomiske endringer
- Prosjektnummer
- 911967
- Ansvarlig person
- Gunnar Houge
- Institusjon
- Helse Bergen HF
- Prosjektkategori
- Åpen prosjektstøtte
- Helsekategori
- Congenital Disorders
- Forskningsaktivitet
- 2. Aetiology
Ingen direkte brukermedvirkning, men utgangspunktet for prosjektet er poliklinisk og laboratoriediagnostisk aktivitet.
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Eur J Hum Genet 2018 01;26(1):64-74. Epub 2017 nov 27
PMID: 29180823
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
Am J Hum Genet 2017 Nov 02;101(5):824-832. Epub 2017 okt 26
PMID: 29106825
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Am J Med Genet A 2017 Oct;173(10):2763-2771. Epub 2017 aug 4
PMID: 28777491
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Eur J Hum Genet 2017 Sep;25(9):1040-1048. Epub 2017 jun 21
PMID: 28635954
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.
Nat Genet 2017 Jul;49(7):1148-1151. Epub 2017 mai 29
PMID: 28553959
Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
Clin Genet 2017 May;91(5):697-707. Epub 2016 okt 10
PMID: 27598823
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Mol Psychiatry 2017 Jun;22(6):836-849. Epub 2016 mai 31
PMID: 27240531
Formation of new chromatin domains determines pathogenicity of genomic duplications.
Nature 2016 Oct 13;538(7624):265-269. Epub 2016 okt 5
PMID: 27706140
A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy.
Ann Neurol 2016 Aug;80(2):311-2. Epub 2016 jun 28
PMID: 27273810
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.
Acta Ophthalmol 2017 May;95(3):240-246. Epub 2016 okt 24
PMID: 27775217
RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data.
Bioinformatics 2016 Oct 01;32(19):3018-20. Epub 2016 jun 10
PMID: 27288501
A structured assessment of motor function and behavior in patients with Kleefstra syndrome.
Eur J Med Genet 2016 Apr;59(4):240-8. Epub 2016 jan 22
PMID: 26808425
B56d-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
J Clin Invest 2015 Aug 3;125(8):3051-62. Epub 2015 jul 13
PMID: 26168268
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.
Eur J Med Genet 2015 Aug;58(8):387-91. Epub 2015 jun 23
PMID: 26116559
[Special outpatient clinic for skeletal dysplasias].
Tidsskr Nor Laegeforen 2015 Mar 10;135(5):419-20. Epub 2015 mar 10
PMID: 25761024
- Gunnar Houge Prosjektleder
- Siren Berland Ph.d.-kandidat
eRapport er utarbeidet av Sølvi Lerfald og Reidar Thorstensen, Regionalt kompetansesenter for klinisk forskning, Helse Vest RHF, og videreutvikles av de fire RHF-ene i fellesskap, med støtte fra Helse Vest IKT
Alle henvendelser rettes til Faglig rapportering, Helse Vest