Harry Angelman: Harry Angelman (13 August 1915 – 8 August 1996) was a British consultant paediatrician who identified Angelman Syndrome.Prader–Willi syndromeMalformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).HECT domain: In molecular biology, the HECT domain is a protein domain found in ubiquitin-protein ligases. The name HECT comes from 'Homologous to the E6-AP Carboxyl Terminus'.Death from laughter: Death from laughter refers to a rare instance of death, usually resulting from cardiac arrest or asphyxiation, caused by a fit of laughter. Instances of death by laughter have been recorded from the times of Ancient Greece to the modern day.Beckwith–Wiedemann syndromeHyperphosphatasia with mental retardation syndrome: Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.Microcephaly lymphoedema chorioretinal dysplasia: Microcephaly lymphoedema chorioretinal dysplasia (MLCRD) is a genetic condition associated with:John Payne ToddIllumina Methylation Assay: The Illumina Methylation Assay using the Infinium I platform uses 'BeadChip' technology to generate a comprehensive genome wide profiling of human DNA methylation. Similar to bisulfite sequencing and pyrosequencing, this method quantifies methylation levels at specific loci within the genome.Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.Fragile X-associated tremor/ataxia syndrome: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder associated with problems of movement, memory, and the autonomic nervous system. It is related to the disease fragile X syndrome, although FXTAS is a clinically distinct syndrome.Chromosome regionsPhenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Epicanthic fold: Epicanthic fold (), epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold..National Society of Film Critics Awards 1977: 12th NSFC AwardsMethyl-CpG-binding domain: The Methyl-CpG-binding domain (MBD) in molecular biology binds to DNA that contains one or more symmetrically methylated CpGs. MBD has negligible non-specific affinity for unmethylated DNA.
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