Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Angelman_syndrome> ?p ?o }
- Angelman_syndrome abstract "Angelman syndrome (/ˈeɪndʒəlmən/; abbreviated AS) is a neuro-genetic disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor.AS is a classic example of genomic imprinting in that it is caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced. The sister syndrome, Prader-Willi syndrome, is caused by a similar loss of paternally inherited genes and maternal imprinting. AS is named after a British pediatrician, Harry Angelman, who first described the syndrome in 1965. An older, alternative term for AS, \"happy puppet syndrome\", is generally considered pejorative and stigmatizing so it is no longer the accepted term. People with AS are sometimes referred to as \"angels\", both because of the syndrome's name and because of their youthful, happy appearance.".
- Angelman_syndrome icd10 "Q93.5".
- Angelman_syndrome icd9 "759.89".
- Angelman_syndrome meshId "D017204".
- Angelman_syndrome omim "105830".
- Angelman_syndrome thumbnail Ritratto_di_fanciullo_con_disegno_Giovanni_Francesco_Caroto.jpg?width=300.
- Angelman_syndrome wikiPageExternalLink www.angelman.org.
- Angelman_syndrome wikiPageExternalLink www.angelmansyndrome.org.
- Angelman_syndrome wikiPageExternalLink www.angelmanuk.org.
- Angelman_syndrome wikiPageExternalLink www.cureangelman.org.
- Angelman_syndrome wikiPageExternalLink NBK1144.
- Angelman_syndrome wikiPageID "18723957".
- Angelman_syndrome wikiPageLength "23203".
- Angelman_syndrome wikiPageOutDegree "65".
- Angelman_syndrome wikiPageRevisionID "705242451".
- Angelman_syndrome wikiPageWikiLink Allele.
- Angelman_syndrome wikiPageWikiLink Anglo-Saxons.
- Angelman_syndrome wikiPageWikiLink Anticonvulsant.
- Angelman_syndrome wikiPageWikiLink Ataxia.
- Angelman_syndrome wikiPageWikiLink Budoy.
- Angelman_syndrome wikiPageWikiLink Castelvecchio_Museum.
- Angelman_syndrome wikiPageWikiLink Category:Autosomal_monosomies_and_deletions.
- Angelman_syndrome wikiPageWikiLink Category:Disorders_causing_seizures.
- Angelman_syndrome wikiPageWikiLink Category:Genodermatoses.
- Angelman_syndrome wikiPageWikiLink Category:Learning_disabilities.
- Angelman_syndrome wikiPageWikiLink Category:Neurological_disorders.
- Angelman_syndrome wikiPageWikiLink Category:Psychiatric_diagnosis.
- Angelman_syndrome wikiPageWikiLink Category:Rare_diseases.
- Angelman_syndrome wikiPageWikiLink Category:Syndromes.
- Angelman_syndrome wikiPageWikiLink Cerebellum.
- Angelman_syndrome wikiPageWikiLink Chromosomal_translocation.
- Angelman_syndrome wikiPageWikiLink Chromosome_15_(human).
- Angelman_syndrome wikiPageWikiLink DNA_methylation.
- Angelman_syndrome wikiPageWikiLink Developmental_disability.
- Angelman_syndrome wikiPageWikiLink Electroencephalography.
- Angelman_syndrome wikiPageWikiLink Epileptic_seizure.
- Angelman_syndrome wikiPageWikiLink Fear_conditioning.
- Angelman_syndrome wikiPageWikiLink Gelastic_seizure.
- Angelman_syndrome wikiPageWikiLink Gene.
- Angelman_syndrome wikiPageWikiLink Genomic_imprinting.
- Angelman_syndrome wikiPageWikiLink Gerald_Anderson.
- Angelman_syndrome wikiPageWikiLink Giovanni_Francesco_Caroto.
- Angelman_syndrome wikiPageWikiLink Harry_Angelman.
- Angelman_syndrome wikiPageWikiLink Hippocampus.
- Angelman_syndrome wikiPageWikiLink Hypopigmentation.
- Angelman_syndrome wikiPageWikiLink Ictal.
- Angelman_syndrome wikiPageWikiLink Mandible.
- Angelman_syndrome wikiPageWikiLink Medical_genetics.
- Angelman_syndrome wikiPageWikiLink Melatonin.
- Angelman_syndrome wikiPageWikiLink Menstruation.
- Angelman_syndrome wikiPageWikiLink Microcephaly.
- Angelman_syndrome wikiPageWikiLink Neurodevelopmental_disorder.
- Angelman_syndrome wikiPageWikiLink Pathognomonic.
- Angelman_syndrome wikiPageWikiLink Pediatrics.
- Angelman_syndrome wikiPageWikiLink Pejorative.
- Angelman_syndrome wikiPageWikiLink Physical_therapy.
- Angelman_syndrome wikiPageWikiLink Prader–Willi_syndrome.
- Angelman_syndrome wikiPageWikiLink Prevalence.
- Angelman_syndrome wikiPageWikiLink Puberty.
- Angelman_syndrome wikiPageWikiLink Richard_Price_(poet).
- Angelman_syndrome wikiPageWikiLink Scoliosis.
- Angelman_syndrome wikiPageWikiLink Small_nuclear_ribonucleoprotein_polypeptide_N.
- Angelman_syndrome wikiPageWikiLink Strabismus.
- Angelman_syndrome wikiPageWikiLink Synaptic_plasticity.
- Angelman_syndrome wikiPageWikiLink Syndrome.
- Angelman_syndrome wikiPageWikiLink UBE3A.
- Angelman_syndrome wikiPageWikiLink Ubiquitin.
- Angelman_syndrome wikiPageWikiLink Ubiquitin_ligase.
- Angelman_syndrome wikiPageWikiLink Uniparental_disomy.
- Angelman_syndrome wikiPageWikiLink Urinary_incontinence.
- Angelman_syndrome wikiPageWikiLink Verona.
- Angelman_syndrome wikiPageWikiLink Warrington.
- Angelman_syndrome wikiPageWikiLink File:Angelman.PNG.
- Angelman_syndrome wikiPageWikiLinkText "Angelman Syndrome".
- Angelman_syndrome wikiPageWikiLinkText "Angelman syndrome".
- Angelman_syndrome wikiPageWikiLinkText "Angelman".
- Angelman_syndrome wikiPageWikiLinkText "Angelman_syndrome".
- Angelman_syndrome wikiPageWikiLinkText "angelman syndrome".
- Angelman_syndrome caption ""Boy with a Puppet" or "A child with a drawing" by Giovanni Francesco Caroto.".
- Angelman_syndrome diseasesdb "712".
- Angelman_syndrome field Medical_genetics.
- Angelman_syndrome genereviewsname "Angelman Syndrome".
- Angelman_syndrome genereviewsnbk "NBK1144".
- Angelman_syndrome icd "759.89".
- Angelman_syndrome icd "Q93.5".
- Angelman_syndrome medlineplus "7616".
- Angelman_syndrome meshid "D017204".
- Angelman_syndrome name "Angelman syndrome".
- Angelman_syndrome omim "105830".
- Angelman_syndrome orphanet "72".
- Angelman_syndrome sign "Angelman quoted by Charles Williams".
- Angelman_syndrome text "The history of medicine is full of interesting stories about the discovery of illnesses. The saga of Angelman's syndrome is one such story. It was purely by chance that nearly thirty years ago three handicapped children were admitted at various times to my children's ward in England. They had a variety of disabilities and although at first sight they seemed to be suffering from different conditions I felt that there was a common cause for their illness. The diagnosis was purely a clinical one because in spite of technical investigations which today are more refined I was unable to establish scientific proof that the three children all had the same handicap. In view of this I hesitated to write about them in the medical journals. However, when on holiday in Italy I happened to see an oil painting in the Castelvecchio Museum in Verona called . . . a Boy with a Puppet. The boy's laughing face and the fact that my patients exhibited jerky movements gave me the idea of writing an article about the three children with a title of Puppet Children. It was not a name that pleased all parents but it served as a means of combining the three little patients into a single group. Later the name was changed to Angelman syndrome. This article was published in 1965 and after some initial interest lay almost forgotten until the early eighties.".
- Angelman_syndrome wikiPageUsesTemplate Template:Authority_control.
- Angelman_syndrome wikiPageUsesTemplate Template:Chromosomal_abnormalities.
- Angelman_syndrome wikiPageUsesTemplate Template:Citation_needed.
- Angelman_syndrome wikiPageUsesTemplate Template:Commons_category.
- Angelman_syndrome wikiPageUsesTemplate Template:Disorders_of_translation_and_posttranslational_modification.
- Angelman_syndrome wikiPageUsesTemplate Template:Dmoz.
- Angelman_syndrome wikiPageUsesTemplate Template:For.
- Angelman_syndrome wikiPageUsesTemplate Template:Genomic_imprinting.