Hans Bjornsson
Hans Tómas Björnsson 1975-
VIAF ID: 330152140016011100006 (Personal)
Permalink: http://viaf.org/viaf/330152140016011100006
Preferred Forms
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- 100 0 _ ‡a Hans Bjornsson
4xx's: Alternate Name Forms (2)
Works
Title | Sources |
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Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction | |
Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency | |
Co-expression patterns define epigenetic regulators associated with neurological dysfunction | |
Developing approaches to study human epigenetic variation | |
The distribution of a germline methylation marker suggests a regional mechanism of LINE-1 silencing by the piRNA-PIWI system | |
A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries | |
Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X. | |
Epigenetic specificity of loss of imprinting of the IGF2 gene in Wilms tumors. | |
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life | |
HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination | |
Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome | |
An integrated epigenetic and genetic approach to common human disease | |
Intra-individual change over time in DNA methylation with familial clustering | |
Kabuki syndrome: international consensus diagnostic criteria | |
The Mendelian disorders of the epigenetic machinery | |
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. | |
The new field of epigenomics: implications for cancer and other common disease research. | |
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features | |
Overlapping euchromatin/heterochromatin- associated marks are enriched in imprinted gene regions and predict allele-specific modification | |
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. | |
[Playing god - progress in genomic medicine] | |
Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice | |
Recommendations for the integration of genomics into clinical practice | |
Research on possible transposon defence systems in humans | |
SNP-specific array-based allele-specific expression analysis | |
Transposon-derived repeats in the human genome and 5-methylcytosine-associated mutations in adjacent genes. |