About: Potocki–Lupski syndrome

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Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microduplication of band 11.2 on the short arm of human chromosome 17 (17p11.2). The duplication was first described as a case study in 1996. In 2000, the first study of the disease was released, and in 2007, enough patients had been gathered to complete a comprehensive study and give it a detailed clinical description. PTLS is named for two researchers involved in the latter phases, Drs. Lorraine Potocki and James R. Lupski of Baylor College of Medicine.

Attributes	Values
rdf:type	Thing Fuchs' dystrophy yago:WikicatCongenitalDisorders yago:Abnormality114501726 yago:Abstraction100002137 yago:Anomaly114505821 yago:Attribute100024264 yago:BirthDefect114465048 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Defect114464005 yago:Disease114070360 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	Syndrome de Potocki-Lupski (fr) Sindrome di Potocki-Lupski (it) Potocki–Lupski syndrome (en) Zespół Potockiej-Lupskiego (pl)
rdfs:comment	Le syndrome de Potocki–Lupski, également connu comme le syndrome dup(17)p11.2p11.2, trisomie 17p11.2 ou syndrome de duplication 17p11.2, est un syndrome de gènes contigus impliquant la duplication de la bande 11.2 sur le bras court du chromosome 17 (17p11.2). Cette duplication a été décrite pour la première fois dans une étude de cas en 1996. En l'an 2000, la première étude de la maladie a été publiée, et en 2007, suffisamment de patients ont pu être réunis pour produire une étude complète et lui donner une description clinique détaillée. L'affection est nommée d'après deux chercheurs impliqués dans les dernières phases, les docteurs et (en) du Baylor College of Medicine. (fr) Zespół Potockiej-Lupskiego (ang. Potocki-Lupski syndrome, PTLS) – genetycznie uwarunkowany, rzadki zespół wad wrodzonych. Opisany po raz pierwszy w latach 90., jest pierwszym zespołem spowodowanym przez chromosomowe mikroduplikacje. Zespół Potockiej-Lupskiego należy do zespołów genów przyległych. (pl) Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microduplication of band 11.2 on the short arm of human chromosome 17 (17p11.2). The duplication was first described as a case study in 1996. In 2000, the first study of the disease was released, and in 2007, enough patients had been gathered to complete a comprehensive study and give it a detailed clinical description. PTLS is named for two researchers involved in the latter phases, Drs. Lorraine Potocki and James R. Lupski of Baylor College of Medicine. (en) La sindrome di Potocki-Lupski (indicata anche con PTLS o Trisomia 17p11.2) è una malattia genetica rara causata da un’anomalia del cromosoma 17. Questo tipo di duplicazione è stato descritto per la prima volta nel 1996, nel 2000 è stato rilasciato il primo studio della malattia e nel 2007, avendo a disposizione un numero sufficiente di pazienti affetti da tale malattia, è stato messo a punto uno studio completo per fornire una descrizione clinica dettagliata. Il termine PTLS è stato utilizzato da due ricercatori coinvolti nelle ultime fasi della ricerca, il dottor Lorraine Potocki e il dottor James R. Lupski del Baylor College of Medicine dai quali ha preso il nome la sindrome descritta. (it)
foaf:name	Potocki–Lupski syndrome (en)
name	Potocki–Lupski syndrome (en)
dcterms:subject	Congenital disorders Rare syndromes
Wikipage page ID	24092633 (xsd:integer)
Wikipage revision ID	1093240283 (xsd:integer)
Link from a Wikipage to another Wikipage	Smith–Magenis syndrome Social behavior Baylor College of Medicine Brain-to-body mass ratio Retinoic acid James R. Lupski Congenital abnormality Social interaction Gene dosage Gene duplication Gene expression Non-allelic homologous recombination Rare disease Cognitive deficit Genetically engineered Murinae Congenital heart defect Contiguous gene syndrome Copy number variation Anxiety Lorraine Potocki Sleep apnea Statistical significance LLGL1 Austral University of Chile Autism Autism spectrum disorder Centro de Estudios Científicos DRG2 Karyotype False negative Overexpression Centimorgan Chromosomal translocation Failure to thrive Hippocampus Congenital disorders Rare syndromes RAI1 Laboratory mice Social behaviour Karyotyping Homologous recombination Model organism Idiot Candidate gene Case study Chromosome 17 (human) Chromosome nomenclature MFAP4 Short stature Low copy repeats Malocclusion SREBF1 Learning disabilities Obsessive-compulsive behaviour TTC19 Duplication (genetics) Microdeletion

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