about
Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicityWhole-genome sequencing identifies EN1 as a determinant of bone density and fracture.A Fast Multiple-Kernel Method With Applications to Detect Gene-Environment Interaction.Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic strokeUsing previously genotyped controls in genome-wide association studies (GWAS): application to the Stroke Genetics Network (SiGN)Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.
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description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Stephen R Williams
@ast
Stephen R Williams
@en
Stephen R Williams
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Stephen R Williams
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type
label
Stephen R Williams
@ast
Stephen R Williams
@en
Stephen R Williams
@es
Stephen R Williams
@nl
prefLabel
Stephen R Williams
@ast
Stephen R Williams
@en
Stephen R Williams
@es
Stephen R Williams
@nl
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0000-0003-2108-2757