PubMed:8266996 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":148},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":149,"end":268},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":269,"end":477},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":478,"end":611},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":612,"end":859},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":148},"obj":"Sentence"},{"id":"T2","span":{"begin":149,"end":268},"obj":"Sentence"},{"id":"T3","span":{"begin":269,"end":477},"obj":"Sentence"},{"id":"T4","span":{"begin":478,"end":611},"obj":"Sentence"},{"id":"T5","span":{"begin":612,"end":859},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.\nAbnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome (PWS). Differences between the methylation patterns of the region of chromosome 15q11-13 which hybridizes to the highly conserved DNA, DN34, in normal individuals and in patients with AS and PWS have been described. We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15q11-q13. The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting, whereby genetic information is expressed differently dependent on the parent of origin."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":46,"end":51},"obj":"gene:7681"},{"id":"T1","span":{"begin":104,"end":121},"obj":"disease:C0162635"},{"id":"T2","span":{"begin":46,"end":51},"obj":"gene:7681"},{"id":"T3","span":{"begin":126,"end":147},"obj":"disease:C0032897"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.\nAbnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome (PWS). Differences between the methylation patterns of the region of chromosome 15q11-13 which hybridizes to the highly conserved DNA, DN34, in normal individuals and in patients with AS and PWS have been described. We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15q11-q13. The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting, whereby genetic information is expressed differently dependent on the parent of origin."}

{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":213,"end":230},"obj":"ORDO:72"},{"id":"AB2","span":{"begin":240,"end":261},"obj":"ORDO:739"},{"id":"TI1","span":{"begin":104,"end":121},"obj":"ORDO:72"},{"id":"TI2","span":{"begin":126,"end":147},"obj":"ORDO:739"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.\nAbnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome (PWS). Differences between the methylation patterns of the region of chromosome 15q11-13 which hybridizes to the highly conserved DNA, DN34, in normal individuals and in patients with AS and PWS have been described. We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15q11-q13. The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting, whereby genetic information is expressed differently dependent on the parent of origin."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":104,"end":121},"obj":"SpecificDisease:D017204"},{"id":"T2","span":{"begin":126,"end":147},"obj":"SpecificDisease:D011218"},{"id":"T3","span":{"begin":213,"end":230},"obj":"SpecificDisease:D017204"},{"id":"T4","span":{"begin":232,"end":234},"obj":"SpecificDisease:D017204"},{"id":"T5","span":{"begin":240,"end":261},"obj":"SpecificDisease:D011218"},{"id":"T6","span":{"begin":263,"end":266},"obj":"SpecificDisease:D011218"},{"id":"T7","span":{"begin":446,"end":448},"obj":"SpecificDisease:D017204"},{"id":"T8","span":{"begin":453,"end":456},"obj":"SpecificDisease:D011218"},{"id":"T9","span":{"begin":539,"end":541},"obj":"SpecificDisease:D017204"},{"id":"T10","span":{"begin":546,"end":549},"obj":"SpecificDisease:D011218"}],"text":"Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.\nAbnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome (PWS). Differences between the methylation patterns of the region of chromosome 15q11-13 which hybridizes to the highly conserved DNA, DN34, in normal individuals and in patients with AS and PWS have been described. We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15q11-q13. The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting, whereby genetic information is expressed differently dependent on the parent of origin."}

{"project":"NCBI-Disease-Train","denotations":[{"id":"T4631","span":{"begin":104,"end":121},"obj":"SpecificDisease"},{"id":"T4632","span":{"begin":126,"end":147},"obj":"SpecificDisease"},{"id":"T4633","span":{"begin":213,"end":230},"obj":"SpecificDisease"},{"id":"T4634","span":{"begin":232,"end":234},"obj":"SpecificDisease"},{"id":"T4635","span":{"begin":240,"end":261},"obj":"SpecificDisease"},{"id":"T4636","span":{"begin":263,"end":266},"obj":"SpecificDisease"},{"id":"T4637","span":{"begin":446,"end":448},"obj":"SpecificDisease"},{"id":"T4638","span":{"begin":453,"end":456},"obj":"SpecificDisease"},{"id":"T4639","span":{"begin":539,"end":541},"obj":"SpecificDisease"},{"id":"T4640","span":{"begin":546,"end":549},"obj":"SpecificDisease"}],"attributes":[{"id":"A4631","pred":"database_id","subj":"T4631","obj":"D017204"},{"id":"A4632","pred":"database_id","subj":"T4632","obj":"D011218"},{"id":"A4633","pred":"database_id","subj":"T4633","obj":"D017204"},{"id":"A4634","pred":"database_id","subj":"T4634","obj":"D017204"},{"id":"A4635","pred":"database_id","subj":"T4635","obj":"D011218"},{"id":"A4636","pred":"database_id","subj":"T4636","obj":"D011218"},{"id":"A4637","pred":"database_id","subj":"T4637","obj":"D017204"},{"id":"A4638","pred":"database_id","subj":"T4638","obj":"D011218"},{"id":"A4639","pred":"database_id","subj":"T4639","obj":"D017204"},{"id":"A4640","pred":"database_id","subj":"T4640","obj":"D011218"}],"text":"Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.\nAbnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome (PWS). Differences between the methylation patterns of the region of chromosome 15q11-13 which hybridizes to the highly conserved DNA, DN34, in normal individuals and in patients with AS and PWS have been described. We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15q11-q13. The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting, whereby genetic information is expressed differently dependent on the parent of origin."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T4631","span":{"begin":104,"end":121},"obj":"SpecificDisease"},{"id":"T4632","span":{"begin":126,"end":147},"obj":"SpecificDisease"},{"id":"T4633","span":{"begin":213,"end":230},"obj":"SpecificDisease"},{"id":"T4634","span":{"begin":232,"end":234},"obj":"SpecificDisease"},{"id":"T4635","span":{"begin":240,"end":261},"obj":"SpecificDisease"},{"id":"T4636","span":{"begin":263,"end":266},"obj":"SpecificDisease"},{"id":"T4637","span":{"begin":446,"end":448},"obj":"SpecificDisease"},{"id":"T4638","span":{"begin":453,"end":456},"obj":"SpecificDisease"},{"id":"T4639","span":{"begin":539,"end":541},"obj":"SpecificDisease"},{"id":"T4640","span":{"begin":546,"end":549},"obj":"SpecificDisease"}],"attributes":[{"id":"A4631","pred":"database_id","subj":"T4631","obj":"D017204"},{"id":"A4632","pred":"database_id","subj":"T4632","obj":"D011218"},{"id":"A4633","pred":"database_id","subj":"T4633","obj":"D017204"},{"id":"A4634","pred":"database_id","subj":"T4634","obj":"D017204"},{"id":"A4635","pred":"database_id","subj":"T4635","obj":"D011218"},{"id":"A4636","pred":"database_id","subj":"T4636","obj":"D011218"},{"id":"A4637","pred":"database_id","subj":"T4637","obj":"D017204"},{"id":"A4638","pred":"database_id","subj":"T4638","obj":"D011218"},{"id":"A4639","pred":"database_id","subj":"T4639","obj":"D017204"},{"id":"A4640","pred":"database_id","subj":"T4640","obj":"D011218"}],"text":"Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.\nAbnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome (PWS). Differences between the methylation patterns of the region of chromosome 15q11-13 which hybridizes to the highly conserved DNA, DN34, in normal individuals and in patients with AS and PWS have been described. We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15q11-q13. The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting, whereby genetic information is expressed differently dependent on the parent of origin."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":104,"end":121},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":126,"end":147},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":213,"end":230},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":232,"end":234},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":240,"end":261},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":263,"end":266},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":446,"end":448},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":453,"end":456},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":539,"end":541},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":546,"end":549},"obj":"SpecificDisease"}],"text":"Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.\nAbnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome (PWS). Differences between the methylation patterns of the region of chromosome 15q11-13 which hybridizes to the highly conserved DNA, DN34, in normal individuals and in patients with AS and PWS have been described. We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15q11-q13. The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting, whereby genetic information is expressed differently dependent on the parent of origin."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":104,"end":121},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":126,"end":147},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":213,"end":230},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":232,"end":234},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":240,"end":261},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":263,"end":266},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":446,"end":448},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":453,"end":456},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":539,"end":541},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":546,"end":549},"obj":"SpecificDisease"}],"text":"Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.\nAbnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome (PWS). Differences between the methylation patterns of the region of chromosome 15q11-13 which hybridizes to the highly conserved DNA, DN34, in normal individuals and in patients with AS and PWS have been described. We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15q11-q13. The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting, whereby genetic information is expressed differently dependent on the parent of origin."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":104,"end":121},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":126,"end":147},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":213,"end":235},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":240,"end":267},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":446,"end":448},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":453,"end":456},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":539,"end":541},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":546,"end":549},"obj":"SpecificDisease"}],"text":"Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.\nAbnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome (PWS). Differences between the methylation patterns of the region of chromosome 15q11-13 which hybridizes to the highly conserved DNA, DN34, in normal individuals and in patients with AS and PWS have been described. We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15q11-q13. The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting, whereby genetic information is expressed differently dependent on the parent of origin."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":104,"end":121},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":126,"end":147},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":213,"end":235},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":240,"end":267},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":446,"end":448},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":453,"end":456},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":539,"end":541},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":546,"end":549},"obj":"SpecificDisease"}],"text":"Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.\nAbnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome (PWS). Differences between the methylation patterns of the region of chromosome 15q11-13 which hybridizes to the highly conserved DNA, DN34, in normal individuals and in patients with AS and PWS have been described. We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15q11-q13. The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting, whereby genetic information is expressed differently dependent on the parent of origin."}