Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Potocki–Lupski_syndrome> ?p ?o }
- Potocki–Lupski_syndrome abstract "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.PTLS was the first predicted reciprocal of a homologous recombination (microdeletion or microduplication) where both reciprocal recombinations result in a contiguous gene syndrome. Its reciprocal disease is Smith-Magenis syndrome (SMS), in which the chromosome portion duplicated in PTLS is deleted altogether.Potocki–Lupski syndrome is considered a rare disease, predicted to appear in at least 1 in 20,000 humans.Symptoms of the syndrome include mild mental retardation, autism, and other disorders unrelated to the listed symptoms.".
- Potocki–Lupski_syndrome icd10 "Q92.3".
- Potocki–Lupski_syndrome omim "610883".
- Potocki–Lupski_syndrome wikiPageExternalLink Ptlsfoundation.org.
- Potocki–Lupski_syndrome wikiPageExternalLink index.cfm.
- Potocki–Lupski_syndrome wikiPageID "24092633".
- Potocki–Lupski_syndrome wikiPageLength "15566".
- Potocki–Lupski_syndrome wikiPageOutDegree "89".
- Potocki–Lupski_syndrome wikiPageRevisionID "659693062".
- Potocki–Lupski_syndrome wikiPageWikiLink Anxiety.
- Potocki–Lupski_syndrome wikiPageWikiLink Array_comparative_genomic_hybridization.
- Potocki–Lupski_syndrome wikiPageWikiLink Attention-deficit_disorder.
- Potocki–Lupski_syndrome wikiPageWikiLink Attention_deficit_hyperactivity_disorder.
- Potocki–Lupski_syndrome wikiPageWikiLink Austral_University_of_Chile.
- Potocki–Lupski_syndrome wikiPageWikiLink Autism.
- Potocki–Lupski_syndrome wikiPageWikiLink Autism_spectrum.
- Potocki–Lupski_syndrome wikiPageWikiLink Autism_spectrum_disorder.
- Potocki–Lupski_syndrome wikiPageWikiLink Base_pair.
- Potocki–Lupski_syndrome wikiPageWikiLink Baylor_College_of_Medicine.
- Potocki–Lupski_syndrome wikiPageWikiLink Brain-to-body_mass_ratio.
- Potocki–Lupski_syndrome wikiPageWikiLink Candidate_gene.
- Potocki–Lupski_syndrome wikiPageWikiLink Case_study.
- Potocki–Lupski_syndrome wikiPageWikiLink Category:Congenital_disorders.
- Potocki–Lupski_syndrome wikiPageWikiLink Category:Rare_diseases.
- Potocki–Lupski_syndrome wikiPageWikiLink Category:Syndromes.
- Potocki–Lupski_syndrome wikiPageWikiLink Centimorgan.
- Potocki–Lupski_syndrome wikiPageWikiLink Centro_de_Estudios_Cientificos.
- Potocki–Lupski_syndrome wikiPageWikiLink Centro_de_Estudios_Científicos.
- Potocki–Lupski_syndrome wikiPageWikiLink Chromosomal_translocation.
- Potocki–Lupski_syndrome wikiPageWikiLink Chromosome_17_(human).
- Potocki–Lupski_syndrome wikiPageWikiLink Chromosome_nomenclature.
- Potocki–Lupski_syndrome wikiPageWikiLink Cognitive_deficit.
- Potocki–Lupski_syndrome wikiPageWikiLink Comparative_genomic_hybridization.
- Potocki–Lupski_syndrome wikiPageWikiLink Congenital_abnormality.
- Potocki–Lupski_syndrome wikiPageWikiLink Congenital_disorder.
- Potocki–Lupski_syndrome wikiPageWikiLink Congenital_heart_defect.
- Potocki–Lupski_syndrome wikiPageWikiLink Contiguous_gene_syndrome.
- Potocki–Lupski_syndrome wikiPageWikiLink Control_group.
- Potocki–Lupski_syndrome wikiPageWikiLink Copy-number_variation.
- Potocki–Lupski_syndrome wikiPageWikiLink Copy_number_variation.
- Potocki–Lupski_syndrome wikiPageWikiLink DRG2.
- Potocki–Lupski_syndrome wikiPageWikiLink Deletion_(genetics).
- Potocki–Lupski_syndrome wikiPageWikiLink Duplication_(genetics).
- Potocki–Lupski_syndrome wikiPageWikiLink Failure_to_thrive.
- Potocki–Lupski_syndrome wikiPageWikiLink False_negative.
- Potocki–Lupski_syndrome wikiPageWikiLink False_positives_and_false_negatives.
- Potocki–Lupski_syndrome wikiPageWikiLink Flanking_gene.
- Potocki–Lupski_syndrome wikiPageWikiLink Fluorescence_in_situ_hybridization.
- Potocki–Lupski_syndrome wikiPageWikiLink Fluorescent_in-situ_hybridization.
- Potocki–Lupski_syndrome wikiPageWikiLink G-banding.
- Potocki–Lupski_syndrome wikiPageWikiLink GJA12.
- Potocki–Lupski_syndrome wikiPageWikiLink GJC2.
- Potocki–Lupski_syndrome wikiPageWikiLink G_banding.
- Potocki–Lupski_syndrome wikiPageWikiLink Gene_dosage.
- Potocki–Lupski_syndrome wikiPageWikiLink Gene_duplication.
- Potocki–Lupski_syndrome wikiPageWikiLink Gene_expression.
- Potocki–Lupski_syndrome wikiPageWikiLink Genetic_engineering.
- Potocki–Lupski_syndrome wikiPageWikiLink Genetically-engineered.
- Potocki–Lupski_syndrome wikiPageWikiLink Genetically_engineered.
- Potocki–Lupski_syndrome wikiPageWikiLink Hippocampus.
- Potocki–Lupski_syndrome wikiPageWikiLink Homologous_recombination.
- Potocki–Lupski_syndrome wikiPageWikiLink Hypotonia.
- Potocki–Lupski_syndrome wikiPageWikiLink Inanimate_target.
- Potocki–Lupski_syndrome wikiPageWikiLink Infantile_hypotonia.
- Potocki–Lupski_syndrome wikiPageWikiLink Intellectual_disability.
- Potocki–Lupski_syndrome wikiPageWikiLink James_R._Lupski.
- Potocki–Lupski_syndrome wikiPageWikiLink Karyotype.
- Potocki–Lupski_syndrome wikiPageWikiLink Karyotyping.
- Potocki–Lupski_syndrome wikiPageWikiLink LLGL1.
- Potocki–Lupski_syndrome wikiPageWikiLink Laboratory_mice.
- Potocki–Lupski_syndrome wikiPageWikiLink Laboratory_mouse.
- Potocki–Lupski_syndrome wikiPageWikiLink Learning_disabilities.
- Potocki–Lupski_syndrome wikiPageWikiLink Learning_disability.
- Potocki–Lupski_syndrome wikiPageWikiLink Locus_(genetics).
- Potocki–Lupski_syndrome wikiPageWikiLink Lorraine_Potocki.
- Potocki–Lupski_syndrome wikiPageWikiLink Low_copy_repeats.
- Potocki–Lupski_syndrome wikiPageWikiLink MFAP4.
- Potocki–Lupski_syndrome wikiPageWikiLink Malocclusion.
- Potocki–Lupski_syndrome wikiPageWikiLink Megabase.
- Potocki–Lupski_syndrome wikiPageWikiLink Mental_retardation.
- Potocki–Lupski_syndrome wikiPageWikiLink Microdeletion.
- Potocki–Lupski_syndrome wikiPageWikiLink Model_organism.
- Potocki–Lupski_syndrome wikiPageWikiLink Murinae.
- Potocki–Lupski_syndrome wikiPageWikiLink Non-allelic_homologous_recombination.
- Potocki–Lupski_syndrome wikiPageWikiLink Non_allelic_homologous_recombination.
- Potocki–Lupski_syndrome wikiPageWikiLink Obsessive-compulsive_behaviour.
- Potocki–Lupski_syndrome wikiPageWikiLink Obsessive–compulsive_disorder.
- Potocki–Lupski_syndrome wikiPageWikiLink Overexpression.
- Potocki–Lupski_syndrome wikiPageWikiLink RAI1.
- Potocki–Lupski_syndrome wikiPageWikiLink Rare_disease.
- Potocki–Lupski_syndrome wikiPageWikiLink Retinoic_acid.
- Potocki–Lupski_syndrome wikiPageWikiLink SHMT1.
- Potocki–Lupski_syndrome wikiPageWikiLink SREBF1.
- Potocki–Lupski_syndrome wikiPageWikiLink Serine_hydroxymethyltransferase.
- Potocki–Lupski_syndrome wikiPageWikiLink Short_arm.
- Potocki–Lupski_syndrome wikiPageWikiLink Short_stature.
- Potocki–Lupski_syndrome wikiPageWikiLink Sleep_apnea.
- Potocki–Lupski_syndrome wikiPageWikiLink Smith-Magenis_syndrome.
- Potocki–Lupski_syndrome wikiPageWikiLink Smith–Magenis_syndrome.
- Potocki–Lupski_syndrome wikiPageWikiLink Social_behavior.