Hvorfor er autisme vanligst hos gutter? Om Y-kromosomet kan påvirke hjernen via SRY og KDM5D
- Prosjektnummer
- 912053
- Ansvarlig person
- Gunnar Houge
- Institusjon
- Helse Bergen HF
- Prosjektkategori
- Åpen prosjektstøtte
- Helsekategori
- Congenital Disorders, Neurological
- Forskningsaktivitet
- 2. Aetiology, 4. Detection and Diagnosis
Ingen direkte brukermedvirkning, men utgangspunktet for prosjektet er poliklinisk og laboratoriediagnostisk aktivitet
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.
Eur J Hum Genet 2019 03;27(3):378-383. Epub 2018 nov 28
PMID: 30487643
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Am J Med Genet A 2018 Nov;176(11):2259-2275. Epub 2018 sep 8
PMID: 30194818
NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report.
BMC Med Genet 2018 03 20;19(1):47. Epub 2018 mar 20
PMID: 29558889
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Am J Med Genet A 2018 04;176(4):862-876. Epub 2018 feb 20
PMID: 29460469
A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance.
Cold Spring Harb Mol Case Stud 2018 02;4(1). Epub 2018 feb 1
PMID: 29437797
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
Heterozygous mutations affecting the protein kinase domain of
J Med Genet 2018 Jan;55(1):28-38. Epub 2017 okt 11
PMID: 29021403
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.
Eur J Hum Genet 2019 Apr;27(4):574-581. Epub 2018 des 20
PMID: 30573803
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.
Am J Hum Genet 2018 Dec 06;103(6):976-983. Epub 2018 nov 15
PMID: 30449416
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
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
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
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.
Nat Genet 2017 Jul;49(7):1148-1151. Epub 2017 mai 29
PMID: 28553959
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
- 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