Epigenetisk dysfunksjon og genomisk ubalanse ved autisme og utviklingshemning
- Prosjektnummer
- 911744
- Ansvarlig person
- Gunnar Houge
- Institusjon
- Helse Bergen HF
- Prosjektkategori
- Forskningsprosjekt
- Helsekategori
- Congenital Disorders, Mental Health, Musculoskeletal
- Forskningsaktivitet
- 2. Aetiology, 4. Detection and Diagnosis
Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up.
JIMD Rep 2014;17():83-90. Epub 2014 sep 16
PMID: 25224312
Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.
Ann Neurol 2014 Nov;76(5):758-64. Epub 2014 okt 4
PMID: 25223753
Keloids in Rubinstein-Taybi syndrome: a clinical study.
Br J Dermatol 2014 Sep;171(3):615-21. Epub 2014 aug 21
PMID: 25132000
Ocular pterygium--digital keloid dysplasia.
Am J Med Genet A 2014 Nov;164A(11):2901-7. Epub 2014 aug 14
PMID: 25124224
Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease.
Heart 2014 Nov;100(22):1793-8. Epub 2014 jul 16
PMID: 25031264
15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.
Eur J Med Genet 2014 Sep;57(9):520-3. Epub 2014 jun 13
PMID: 24932903
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Am J Hum Genet 2014 Jun 5;94(6):915-23.
PMID: 24906020
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.
Am J Med Genet A 2014 Jul;164A(7):1622-6. Epub 2014 mar 26
PMID: 24678003
Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.
PLoS One 2014;9(1):e85600. Epub 2014 jan 15
PMID: 24454898
Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome.
Am J Hum Genet 2014 Jan 2;94(1):153-4.
PMID: 24387995
RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts.
Epigenetics 2014 Mar;9(3):416-27. Epub 2013 des 18
PMID: 24351654
Dysmorphology at a distance: results of a web-based diagnostic service.
Eur J Hum Genet 2014 Mar;22(3):327-32. Epub 2013 jul 10
PMID: 23838594
Small fibre neuropathy in Fabry disease.
J Neurol 2013 Mar;260(3):917-9. Epub 2012 des 21
PMID: 23263477
Agalsidase benefits renal histology in young patients with Fabry disease.
J Am Soc Nephrol 2013 Jan;24(1):137-48.
PMID: 23274955
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.
Neurology 2013 Jan 29;80(5):438-46. Epub 2013 jan 2
PMID: 23284067
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
Eur J Hum Genet 2013 Oct;21(10):1100-4. Epub 2013 feb 13
PMID: 23403903
Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage.
JIMD Rep 2013;8():51-6. Epub 2012 jul 14
PMID: 23430520
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.
Proc Natl Acad Sci U S A 2013 Mar;110(12):4667-72. Epub 2013 mar 4
PMID: 23487782
Evidence for anticipation in Beckwith-Wiedemann syndrome.
Eur J Hum Genet 2013 Dec;21(12):1344-8. Epub 2013 apr 10
PMID: 23572028
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.
Gastroenterology 2013 Sep;145(3):544-7. Epub 2013 jun 5
PMID: 23747338
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Hum Mol Genet 2013 Dec 20;22(25):5121-35. Epub 2013 aug 1
PMID: 23906836
De novo Huntington disease caused by 26-44 CAG repeat expansion on a low-risk haplotype.
Neurology 2013 Sep 17;81(12):1099-100. Epub 2013 aug 14
PMID: 23946314
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
J Neurol Neurosurg Psychiatry 2012 Feb;83(2):174-8. Epub 2011 okt 29
PMID: 22036850
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
Eur J Hum Genet 2012 Apr;20(4):381-8. Epub 2011 nov 30
PMID: 22126750
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Nat Genet 2012 Mar;44(3):338-42. Epub 2012 jan 22
PMID: 22267198
Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability.
Mol Syndromol 2012 Jan;2(2):60-63. Epub 2011 des 20
PMID: 22511892
Update on Kleefstra Syndrome.
Mol Syndromol 2012 Apr;2(3-5):202-212. Epub 2012 jan 24
PMID: 22670141
- Siren Berland Prosjektdeltaker
- Mia Appelbäck Prosjektdeltaker
- Ove Bruland Prosjektdeltaker
- Helle Lybæk Postdoktor
- Gunnar Houge Prosjektleder
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