Epigenetisk dysregulering og mosaisisme som årsak til medfødte utviklingsavvik
- Prosjektnummer
- 911459
- Ansvarlig person
- Helle Lybæk
- Institusjon
- Helse Bergen HF
- Prosjektkategori
- Forskerutdanning - postdoc
- Helsekategori
- Mental Health
- Forskningsaktivitet
- 4. Detection and Diagnosis
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
A de novo 1.5?Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.
Autism Res 2011 Jun;4(3):221-7. Epub 2011 feb 28
PMID: 21360829
Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression.
Mol Syndromol 2010 Feb;1(1):46-57. Epub 2010 feb 12
PMID: 20648246
Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother.
Am J Med Genet A 2009 Dec;149A(12):2877-81.
PMID: 19938092
Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: a result of failed tetraploidy correction?
BMC Med Genet 2009;10():42. Epub 2009 mai 18
PMID: 19445731
An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion.
Eur J Hum Genet 2009 Jul;17(7):904-10. Epub 2009 jan 21
PMID: 19156171
Characterisation of genomic imbalances in patients with mental retardation
- Disputert:
- mars 2009
- Hovedveileder:
- Gunnar Houge
- Helle Lybæk Postdoktor
- Gunnar Houge Hovedveileder
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