PubMed:8723064 JSONTXT

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":419,"end":424},"obj":"gene:6638"},{"id":"T1","span":{"begin":392,"end":395},"obj":"disease:C0032897"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"8723064-0#59#64#gene6638","span":{"begin":59,"end":64},"obj":"gene6638"},{"id":"8723064-0#69#90#diseaseC0032897","span":{"begin":69,"end":90},"obj":"diseaseC0032897"}],"relations":[{"id":"59#64#gene663869#90#diseaseC0032897","pred":"associated_with","subj":"8723064-0#59#64#gene6638","obj":"8723064-0#69#90#diseaseC0032897"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":224},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":225,"end":357},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":358,"end":479},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":480,"end":625},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":626,"end":693},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":694,"end":811},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":224},"obj":"Sentence"},{"id":"T2","span":{"begin":225,"end":357},"obj":"Sentence"},{"id":"T3","span":{"begin":358,"end":479},"obj":"Sentence"},{"id":"T4","span":{"begin":480,"end":625},"obj":"Sentence"},{"id":"T5","span":{"begin":626,"end":693},"obj":"Sentence"},{"id":"T6","span":{"begin":694,"end":811},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":69,"end":90},"obj":"ORDO:739"},{"id":"AB1","span":{"begin":329,"end":350},"obj":"ORDO:739"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease:D011218"},{"id":"T2","span":{"begin":329,"end":350},"obj":"SpecificDisease:D011218"},{"id":"T3","span":{"begin":352,"end":355},"obj":"SpecificDisease:D011218"},{"id":"T4","span":{"begin":392,"end":395},"obj":"SpecificDisease:D011218"},{"id":"T5","span":{"begin":673,"end":676},"obj":"Modifier:D011218"},{"id":"T6","span":{"begin":742,"end":745},"obj":"Modifier:D011218"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"ncbi-valid-gpt-nr-g","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":329,"end":350},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":352,"end":355},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":673,"end":676},"obj":"Modifier"},{"id":"T5","span":{"begin":742,"end":745},"obj":"Modifier"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"ncbi-valid","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":329,"end":350},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":352,"end":355},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":392,"end":395},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":673,"end":676},"obj":"Modifier"},{"id":"T6","span":{"begin":742,"end":745},"obj":"Modifier"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"ncbi-valid-gpt-nr-ng","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":329,"end":350},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":352,"end":355},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":673,"end":676},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":742,"end":745},"obj":"SpecificDisease"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"ncbi-valid-gpt-r-ng","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":329,"end":350},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":352,"end":355},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":673,"end":676},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":742,"end":745},"obj":"SpecificDisease"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"ncbi-valid-gpt-r-g","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":329,"end":350},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":352,"end":355},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":673,"end":676},"obj":"Modifier"},{"id":"T5","span":{"begin":742,"end":745},"obj":"Modifier"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"ncbi-valid-gemini-r-g","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":329,"end":350},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":352,"end":355},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":673,"end":676},"obj":"SpecificDisease"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"ncbi-valid-gemini-nr-ng","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":185,"end":223},"obj":"CompositeMention"},{"id":"T3","span":{"begin":276,"end":281},"obj":"Modifier"},{"id":"T4","span":{"begin":329,"end":350},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":352,"end":355},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":407,"end":415},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":517,"end":531},"obj":"CompositeMention"},{"id":"T8","span":{"begin":641,"end":657},"obj":"CompositeMention"},{"id":"T9","span":{"begin":673,"end":676},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":760,"end":777},"obj":"CompositeMention"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"ncbi-valid-gemini-nr-g","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"ncbi-valid-deepseek-nr-ng","denotations":[{"id":"T1","span":{"begin":0,"end":8},"obj":"Modifier"},{"id":"T2","span":{"begin":12,"end":57},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":59,"end":64},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":91,"end":99},"obj":"Modifier"},{"id":"T6","span":{"begin":103,"end":137},"obj":"Modifier"},{"id":"T7","span":{"begin":139,"end":147},"obj":"Modifier"},{"id":"T8","span":{"begin":157,"end":164},"obj":"Modifier"},{"id":"T9","span":{"begin":165,"end":174},"obj":"Modifier"},{"id":"T10","span":{"begin":185,"end":196},"obj":"Modifier"},{"id":"T11","span":{"begin":197,"end":205},"obj":"Modifier"},{"id":"T12","span":{"begin":209,"end":223},"obj":"SpecificDisease"},{"id":"T13","span":{"begin":229,"end":274},"obj":"SpecificDisease"},{"id":"T14","span":{"begin":276,"end":281},"obj":"SpecificDisease"},{"id":"T15","span":{"begin":283,"end":287},"obj":"Modifier"},{"id":"T16","span":{"begin":329,"end":350},"obj":"SpecificDisease"},{"id":"T17","span":{"begin":352,"end":355},"obj":"SpecificDisease"},{"id":"T18","span":{"begin":370,"end":378},"obj":"Modifier"},{"id":"T19","span":{"begin":384,"end":391},"obj":"Modifier"},{"id":"T20","span":{"begin":396,"end":406},"obj":"Modifier"},{"id":"T21","span":{"begin":407,"end":415},"obj":"Modifier"},{"id":"T22","span":{"begin":419,"end":424},"obj":"SpecificDisease"},{"id":"T23","span":{"begin":425,"end":433},"obj":"Modifier"},{"id":"T24","span":{"begin":437,"end":471},"obj":"Modifier"},{"id":"T25","span":{"begin":473,"end":477},"obj":"Modifier"},{"id":"T26","span":{"begin":490,"end":516},"obj":"Modifier"},{"id":"T27","span":{"begin":517,"end":531},"obj":"SpecificDisease"},{"id":"T28","span":{"begin":555,"end":561},"obj":"SpecificDisease"},{"id":"T29","span":{"begin":563,"end":569},"obj":"SpecificDisease"},{"id":"T30","span":{"begin":575,"end":581},"obj":"SpecificDisease"},{"id":"T31","span":{"begin":582,"end":588},"obj":"Modifier"},{"id":"T32","span":{"begin":589,"end":595},"obj":"Modifier"},{"id":"T33","span":{"begin":617,"end":624},"obj":"Modifier"},{"id":"T34","span":{"begin":641,"end":648},"obj":"Modifier"},{"id":"T35","span":{"begin":658,"end":665},"obj":"Modifier"},{"id":"T36","span":{"begin":673,"end":676},"obj":"SpecificDisease"},{"id":"T37","span":{"begin":677,"end":685},"obj":"Modifier"},{"id":"T38","span":{"begin":686,"end":692},"obj":"Modifier"},{"id":"T39","span":{"begin":706,"end":711},"obj":"SpecificDisease"},{"id":"T40","span":{"begin":730,"end":738},"obj":"Modifier"},{"id":"T41","span":{"begin":746,"end":754},"obj":"Modifier"},{"id":"T42","span":{"begin":768,"end":777},"obj":"Modifier"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"ncbi-valid-deepseek-nr-g","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":352,"end":355},"obj":"SpecificDisease"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"ncbi-valid-deepseek-r-g","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":352,"end":355},"obj":"SpecificDisease"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"ncbi-valid-deepseek-r-ng","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":329,"end":350},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":352,"end":355},"obj":"SpecificDisease"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"ncbi-valid-gemini-r-ng","denotations":[{"id":"T1","span":{"begin":0,"end":8},"obj":"DiseaseClass"},{"id":"T2","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":157,"end":174},"obj":"Modifier"},{"id":"T4","span":{"begin":185,"end":205},"obj":"DiseaseClass"},{"id":"T5","span":{"begin":209,"end":223},"obj":"Modifier"},{"id":"T6","span":{"begin":329,"end":350},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":352,"end":355},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":384,"end":391},"obj":"Modifier"},{"id":"T9","span":{"begin":407,"end":415},"obj":"DiseaseClass"},{"id":"T10","span":{"begin":490,"end":516},"obj":"Modifier"},{"id":"T11","span":{"begin":517,"end":531},"obj":"DiseaseClass"},{"id":"T12","span":{"begin":641,"end":648},"obj":"Modifier"},{"id":"T13","span":{"begin":658,"end":665},"obj":"Modifier"},{"id":"T14","span":{"begin":673,"end":692},"obj":"CompositeMention"},{"id":"T15","span":{"begin":768,"end":777},"obj":"DiseaseClass"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"ncbi-valid-gemini-r-m","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":329,"end":350},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":352,"end":355},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":673,"end":676},"obj":"Modifier"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"ncbi-valid-gpt-r-m","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":329,"end":350},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":352,"end":355},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":673,"end":676},"obj":"Modifier"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"ncbi-valid-deepseek-r-m","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":352,"end":355},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":392,"end":395},"obj":"Modifier"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"NCBI-Disease-Develop","denotations":[{"id":"T342","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T343","span":{"begin":329,"end":350},"obj":"SpecificDisease"},{"id":"T344","span":{"begin":352,"end":355},"obj":"SpecificDisease"},{"id":"T345","span":{"begin":392,"end":395},"obj":"SpecificDisease"},{"id":"T346","span":{"begin":673,"end":676},"obj":"Modifier"},{"id":"T347","span":{"begin":742,"end":745},"obj":"Modifier"}],"attributes":[{"id":"A342","pred":"database_id","subj":"T342","obj":"D011218"},{"id":"A343","pred":"database_id","subj":"T343","obj":"D011218"},{"id":"A344","pred":"database_id","subj":"T344","obj":"D011218"},{"id":"A345","pred":"database_id","subj":"T345","obj":"D011218"},{"id":"A346","pred":"database_id","subj":"T346","obj":"D011218"},{"id":"A347","pred":"database_id","subj":"T347","obj":"D011218"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T342","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T343","span":{"begin":329,"end":350},"obj":"SpecificDisease"},{"id":"T344","span":{"begin":352,"end":355},"obj":"SpecificDisease"},{"id":"T345","span":{"begin":392,"end":395},"obj":"SpecificDisease"},{"id":"T346","span":{"begin":673,"end":676},"obj":"Modifier"},{"id":"T347","span":{"begin":742,"end":745},"obj":"Modifier"}],"attributes":[{"id":"A342","pred":"database_id","subj":"T342","obj":"D011218"},{"id":"A343","pred":"database_id","subj":"T343","obj":"D011218"},{"id":"A344","pred":"database_id","subj":"T344","obj":"D011218"},{"id":"A345","pred":"database_id","subj":"T345","obj":"D011218"},{"id":"A346","pred":"database_id","subj":"T346","obj":"D011218"},{"id":"A347","pred":"database_id","subj":"T347","obj":"D011218"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":329,"end":350},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":352,"end":355},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":392,"end":395},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":673,"end":676},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":742,"end":745},"obj":"Modifier"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":329,"end":350},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":352,"end":355},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":392,"end":395},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":673,"end":676},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":742,"end":745},"obj":"SpecificDisease"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":329,"end":356},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":392,"end":395},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":673,"end":676},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":742,"end":745},"obj":"SpecificDisease"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":69,"end":90},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":329,"end":356},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":673,"end":676},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":742,"end":745},"obj":"SpecificDisease"}],"text":"Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.\nThe small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes."}