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PubMed:2016095 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-108 Sentence denotes A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.
TextSentencer_T2 109-266 Sentence denotes Interstitial cytogenetic deletions involving the paternally derived chromosome 15q11-13 have been described in patients with the Prader-Willi syndrome (PWS).
TextSentencer_T3 267-367 Sentence denotes We report a child with PWS and a de novo unbalanced karyotype -45,XY,-9,-15,+der(9)t(9;15)(q34;q13).
TextSentencer_T4 368-505 Sentence denotes Molecular studies with the DNA probe pML34 confirmed that only a single Prader Willi critical region (PWCR:15q11.2-q12) copy was present.
TextSentencer_T5 506-689 Sentence denotes Hybridisation of patient and parental DNA with the multi-allelic probe CMW1, which maps to pter-15q13, showed that the chromosome involved in the translocation was paternal in origin.
TextSentencer_T6 690-819 Sentence denotes This is the first example of a paternally-derived PWCR allele loss caused by an unbalanced translocation that has arisen de novo.
T1 0-108 Sentence denotes A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.
T2 109-266 Sentence denotes Interstitial cytogenetic deletions involving the paternally derived chromosome 15q11-13 have been described in patients with the Prader-Willi syndrome (PWS).
T3 267-367 Sentence denotes We report a child with PWS and a de novo unbalanced karyotype -45,XY,-9,-15,+der(9)t(9;15)(q34;q13).
T4 368-505 Sentence denotes Molecular studies with the DNA probe pML34 confirmed that only a single Prader Willi critical region (PWCR:15q11.2-q12) copy was present.
T5 506-689 Sentence denotes Hybridisation of patient and parental DNA with the multi-allelic probe CMW1, which maps to pter-15q13, showed that the chromosome involved in the translocation was paternal in origin.
T6 690-819 Sentence denotes This is the first example of a paternally-derived PWCR allele loss caused by an unbalanced translocation that has arisen de novo.

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 86-107 ORDO:739 denotes Prader-Willi syndrome
AB1 238-259 ORDO:739 denotes Prader-Willi syndrome

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 86-107 SpecificDisease:D011218 denotes Prader-Willi syndrome
T2 238-259 SpecificDisease:D011218 denotes Prader-Willi syndrome
T3 261-264 SpecificDisease:D011218 denotes PWS
T4 290-293 SpecificDisease:D011218 denotes PWS
T5 440-452 Modifier:D011218 denotes Prader Willi

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T4549 86-107 SpecificDisease denotes Prader-Willi syndrome D011218
T4550 238-259 SpecificDisease denotes Prader-Willi syndrome D011218
T4551 261-264 SpecificDisease denotes PWS D011218
T4552 290-293 SpecificDisease denotes PWS D011218
T4553 440-452 Modifier denotes Prader Willi D011218

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T4549 86-107 SpecificDisease denotes Prader-Willi syndrome D011218
T4550 238-259 SpecificDisease denotes Prader-Willi syndrome D011218
T4551 261-264 SpecificDisease denotes PWS D011218
T4552 290-293 SpecificDisease denotes PWS D011218
T4553 440-452 Modifier denotes Prader Willi D011218

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 86-107 SpecificDisease denotes Prader-Willi syndrome
T2 238-259 SpecificDisease denotes Prader-Willi syndrome
T3 261-264 SpecificDisease denotes PWS
T4 290-293 SpecificDisease denotes PWS
T5 440-468 Modifier denotes Prader Willi critical region
T6 470-474 Modifier denotes PWCR
T7 740-744 Modifier denotes PWCR

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 86-107 SpecificDisease denotes Prader-Willi syndrome
T2 238-259 SpecificDisease denotes Prader-Willi syndrome
T3 261-264 Modifier denotes PWS
T4 290-293 SpecificDisease denotes PWS

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 86-107 SpecificDisease denotes Prader-Willi syndrome
T2 238-265 SpecificDisease denotes Prader-Willi syndrome (PWS)
T3 290-293 SpecificDisease denotes PWS
T4 440-474 Modifier denotes Prader Willi critical region (PWCR

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 86-107 SpecificDisease denotes Prader-Willi syndrome
T2 238-265 SpecificDisease denotes Prader-Willi syndrome (PWS)
T3 290-293 SpecificDisease denotes PWS
T4 740-744 SpecificDisease denotes PWCR