PubMed:20728296 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":100},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":101,"end":411},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":412,"end":459},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":460,"end":660},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":661,"end":789},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":100},"obj":"Sentence"},{"id":"T2","span":{"begin":101,"end":411},"obj":"Sentence"},{"id":"T3","span":{"begin":412,"end":459},"obj":"Sentence"},{"id":"T4","span":{"begin":460,"end":660},"obj":"Sentence"},{"id":"T5","span":{"begin":661,"end":789},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma.\nA patient with a large deletion of the distal part of the long arm of chromosome 13 showed severe psychomotor retardation, a characteristic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation with molar tooth sign and cerebellar vermis hypoplasia, a phenotype typical of Arima syndrome. This patient also had bilateral retinoblastoma. Fluorescent in situ hybridization and single-nucleotide-polymorphism genotyping microarray demonstrated an interstitial deletion of 54 Mbp, ranging from 13q14.13 to 13q32.3 and involving the RB1 gene. This patient is the first case of Arima syndrome, or a Joubert syndrome-related disorder, that showed linkage to chromosome 13q."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":199,"end":222},"obj":"HP_0001263"},{"id":"T2","span":{"begin":247,"end":256},"obj":"HP_0000639"},{"id":"T3","span":{"begin":258,"end":269},"obj":"HP_0000488"},{"id":"T4","span":{"begin":298,"end":316},"obj":"HP_0012443"},{"id":"T5","span":{"begin":304,"end":327},"obj":"HP_0011077"},{"id":"T6","span":{"begin":322,"end":338},"obj":"HP_0002419"},{"id":"T7","span":{"begin":343,"end":371},"obj":"HP_0001320"},{"id":"T8","span":{"begin":444,"end":458},"obj":"HP_0009919"}],"text":"Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma.\nA patient with a large deletion of the distal part of the long arm of chromosome 13 showed severe psychomotor retardation, a characteristic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation with molar tooth sign and cerebellar vermis hypoplasia, a phenotype typical of Arima syndrome. This patient also had bilateral retinoblastoma. Fluorescent in situ hybridization and single-nucleotide-polymorphism genotyping microarray demonstrated an interstitial deletion of 54 Mbp, ranging from 13q14.13 to 13q32.3 and involving the RB1 gene. This patient is the first case of Arima syndrome, or a Joubert syndrome-related disorder, that showed linkage to chromosome 13q."}

{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":164,"end":167},"obj":"http://purl.obolibrary.org/obo/UBERON_0001460"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":241,"end":245},"obj":"http://purl.obolibrary.org/obo/UBERON_0001456"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":278,"end":284},"obj":"http://purl.obolibrary.org/obo/UBERON_0002113"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":298,"end":303},"obj":"http://purl.obolibrary.org/obo/UBERON_0000955"},{"id":"PD-UBERON-AE-B_T5","span":{"begin":322,"end":333},"obj":"http://purl.obolibrary.org/obo/UBERON_0003655"},{"id":"PD-UBERON-AE-B_T6","span":{"begin":343,"end":360},"obj":"http://purl.obolibrary.org/obo/UBERON_0004720"}],"text":"Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma.\nA patient with a large deletion of the distal part of the long arm of chromosome 13 showed severe psychomotor retardation, a characteristic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation with molar tooth sign and cerebellar vermis hypoplasia, a phenotype typical of Arima syndrome. This patient also had bilateral retinoblastoma. Fluorescent in situ hybridization and single-nucleotide-polymorphism genotyping microarray demonstrated an interstitial deletion of 54 Mbp, ranging from 13q14.13 to 13q32.3 and involving the RB1 gene. This patient is the first case of Arima syndrome, or a Joubert syndrome-related disorder, that showed linkage to chromosome 13q."}

{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":85,"end":99},"obj":"HP:0009919"},{"id":"AB1","span":{"begin":247,"end":256},"obj":"HP:0000639"},{"id":"AB2","span":{"begin":258,"end":269},"obj":"HP:0000488"},{"id":"AB3","span":{"begin":343,"end":371},"obj":"HP:0001320"},{"id":"AB4","span":{"begin":444,"end":458},"obj":"HP:0009919"}],"text":"Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma.\nA patient with a large deletion of the distal part of the long arm of chromosome 13 showed severe psychomotor retardation, a characteristic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation with molar tooth sign and cerebellar vermis hypoplasia, a phenotype typical of Arima syndrome. This patient also had bilateral retinoblastoma. Fluorescent in situ hybridization and single-nucleotide-polymorphism genotyping microarray demonstrated an interstitial deletion of 54 Mbp, ranging from 13q14.13 to 13q32.3 and involving the RB1 gene. This patient is the first case of Arima syndrome, or a Joubert syndrome-related disorder, that showed linkage to chromosome 13q."}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":56,"end":70},"obj":"ORDO:2318"},{"id":"TI2","span":{"begin":85,"end":99},"obj":"ORDO:790"},{"id":"AB1","span":{"begin":396,"end":410},"obj":"ORDO:2318"},{"id":"AB2","span":{"begin":444,"end":458},"obj":"ORDO:790"},{"id":"AB3","span":{"begin":695,"end":709},"obj":"ORDO:2318"},{"id":"AB4","span":{"begin":716,"end":732},"obj":"ORDO:475"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma.\nA patient with a large deletion of the distal part of the long arm of chromosome 13 showed severe psychomotor retardation, a characteristic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation with molar tooth sign and cerebellar vermis hypoplasia, a phenotype typical of Arima syndrome. This patient also had bilateral retinoblastoma. Fluorescent in situ hybridization and single-nucleotide-polymorphism genotyping microarray demonstrated an interstitial deletion of 54 Mbp, ranging from 13q14.13 to 13q32.3 and involving the RB1 gene. This patient is the first case of Arima syndrome, or a Joubert syndrome-related disorder, that showed linkage to chromosome 13q."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":241,"end":245},"obj":"http://purl.obolibrary.org/obo/UBERON_0001456"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":164,"end":167},"obj":"http://purl.obolibrary.org/obo/UBERON_0001460"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":278,"end":284},"obj":"http://purl.obolibrary.org/obo/UBERON_0002113"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":298,"end":303},"obj":"http://purl.obolibrary.org/obo/UBERON_0000955"},{"id":"PD-UBERON-AE-B_T5","span":{"begin":322,"end":333},"obj":"http://purl.obolibrary.org/obo/UBERON_0003655"},{"id":"PD-UBERON-AE-B_T6","span":{"begin":343,"end":360},"obj":"http://purl.obolibrary.org/obo/UBERON_0004720"}],"text":"Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma.\nA patient with a large deletion of the distal part of the long arm of chromosome 13 showed severe psychomotor retardation, a characteristic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation with molar tooth sign and cerebellar vermis hypoplasia, a phenotype typical of Arima syndrome. This patient also had bilateral retinoblastoma. Fluorescent in situ hybridization and single-nucleotide-polymorphism genotyping microarray demonstrated an interstitial deletion of 54 Mbp, ranging from 13q14.13 to 13q32.3 and involving the RB1 gene. This patient is the first case of Arima syndrome, or a Joubert syndrome-related disorder, that showed linkage to chromosome 13q."}