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PubMed:9674903 JSONTXT 32 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-136 Sentence denotes Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).
T1 0-136 Sentence denotes Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).
TextSentencer_T2 137-265 Sentence denotes Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS).
T2 137-265 Sentence denotes Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS).
TextSentencer_T3 266-477 Sentence denotes We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15.
T3 266-477 Sentence denotes We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15.
TextSentencer_T4 478-706 Sentence denotes The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p.
T4 478-706 Sentence denotes The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p.
TextSentencer_T5 707-790 Sentence denotes The t(3;15) was present in the balanced state in the patient's father and a sister.
T5 707-790 Sentence denotes The t(3;15) was present in the balanced state in the patient's father and a sister.
TextSentencer_T6 791-1005 Sentence denotes Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B.
T6 791-1005 Sentence denotes Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B.
TextSentencer_T7 1006-1192 Sentence denotes Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B.
T7 1006-1192 Sentence denotes Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B.
TextSentencer_T8 1193-1356 Sentence denotes Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus.
T8 1193-1356 Sentence denotes Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus.
TextSentencer_T9 1357-1529 Sentence denotes A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p.
T9 1357-1529 Sentence denotes A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p.
TextSentencer_T10 1530-1714 Sentence denotes Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS.
T10 1530-1714 Sentence denotes Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS.
TextSentencer_T11 1715-1830 Sentence denotes Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS.
T11 1715-1830 Sentence denotes Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS.