PubMed:2016095
Annnotations
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 |