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PubMed:12011146 JSONTXT

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PMID_GLOBAL

Id Subject Object Predicate Lexical cue
T1 0-100 Sentence denotes Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.
T2 101-298 Sentence denotes Neurofibromatosis type 2 (NF2) must be suspected in patients presenting with a unilateral vestibular schwannoma at a young age who are therefore at theoretical risk of developing bilateral disease.
T3 299-410 Sentence denotes We identified 45 patients aged 30 years or less at the onset of symptoms of a unilateral vestibular schwannoma.
T4 411-531 Sentence denotes Molecular genetic analysis of the NF2 gene was completed on peripheral blood samples in all 45 and on 28 tumour samples.
T5 532-604 Sentence denotes No pathogenic NF2 mutations were identified in any of the blood samples.
T6 605-734 Sentence denotes NF2 point mutations were identified in 21/28 (75%) tumour samples and loss of heterozygosity (LOH) in 21/28 (75%) tumour samples.
T7 735-802 Sentence denotes Both mutational hits were identified in 18/28 (65%) tumour samples.
T8 803-987 Sentence denotes In one multilobular tumour, one (presumably first hit) mutation was confirmed which was common to different foci of the tumour, while the second mutational event differed between foci.
T9 988-1176 Sentence denotes The molecular findings in this patient were consistent with somatic mosaicism for NF2 and the clinical diagnosis was confirmed with the presence of two meningiomas on a follow up MRI scan.
T10 1177-1362 Sentence denotes A further patient developed a contralateral vestibular schwannoma on a follow up MRI scan in whom neither of the truncating mutations in the vestibular schwannoma were present in blood.
T11 1363-1598 Sentence denotes It is important when counselling patients with unilateral vestibular schwannomas to identify (1) those at risk of bilateral disease, (2) those at risk of developing other tumours, and (3) other family members at risk of developing NF2.
T12 1599-1759 Sentence denotes Comparing tumour and blood DNA cannot exclude mosaicism in the index case and cannot, therefore, be used to predict those at risk of developing further tumours.
T13 1760-2018 Sentence denotes However, identification of both mutations or one mutation plus LOH in the tumour and exclusion of those mutations in the blood samples of the sibs or offspring of the affected case may be sufficient to render further screening unnecessary in these relatives.

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-100 Sentence denotes Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.
TextSentencer_T2 101-298 Sentence denotes Neurofibromatosis type 2 (NF2) must be suspected in patients presenting with a unilateral vestibular schwannoma at a young age who are therefore at theoretical risk of developing bilateral disease.
TextSentencer_T3 299-410 Sentence denotes We identified 45 patients aged 30 years or less at the onset of symptoms of a unilateral vestibular schwannoma.
TextSentencer_T4 411-531 Sentence denotes Molecular genetic analysis of the NF2 gene was completed on peripheral blood samples in all 45 and on 28 tumour samples.
TextSentencer_T5 532-604 Sentence denotes No pathogenic NF2 mutations were identified in any of the blood samples.
TextSentencer_T6 605-734 Sentence denotes NF2 point mutations were identified in 21/28 (75%) tumour samples and loss of heterozygosity (LOH) in 21/28 (75%) tumour samples.
TextSentencer_T7 735-802 Sentence denotes Both mutational hits were identified in 18/28 (65%) tumour samples.
TextSentencer_T8 803-987 Sentence denotes In one multilobular tumour, one (presumably first hit) mutation was confirmed which was common to different foci of the tumour, while the second mutational event differed between foci.
TextSentencer_T9 988-1176 Sentence denotes The molecular findings in this patient were consistent with somatic mosaicism for NF2 and the clinical diagnosis was confirmed with the presence of two meningiomas on a follow up MRI scan.
TextSentencer_T10 1177-1362 Sentence denotes A further patient developed a contralateral vestibular schwannoma on a follow up MRI scan in whom neither of the truncating mutations in the vestibular schwannoma were present in blood.
TextSentencer_T11 1363-1598 Sentence denotes It is important when counselling patients with unilateral vestibular schwannomas to identify (1) those at risk of bilateral disease, (2) those at risk of developing other tumours, and (3) other family members at risk of developing NF2.
TextSentencer_T12 1599-1759 Sentence denotes Comparing tumour and blood DNA cannot exclude mosaicism in the index case and cannot, therefore, be used to predict those at risk of developing further tumours.
TextSentencer_T13 1760-2018 Sentence denotes However, identification of both mutations or one mutation plus LOH in the tumour and exclusion of those mutations in the blood samples of the sibs or offspring of the affected case may be sufficient to render further screening unnecessary in these relatives.
T1 0-100 Sentence denotes Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.
T2 101-298 Sentence denotes Neurofibromatosis type 2 (NF2) must be suspected in patients presenting with a unilateral vestibular schwannoma at a young age who are therefore at theoretical risk of developing bilateral disease.
T3 299-410 Sentence denotes We identified 45 patients aged 30 years or less at the onset of symptoms of a unilateral vestibular schwannoma.
T4 411-531 Sentence denotes Molecular genetic analysis of the NF2 gene was completed on peripheral blood samples in all 45 and on 28 tumour samples.
T5 532-604 Sentence denotes No pathogenic NF2 mutations were identified in any of the blood samples.
T6 605-734 Sentence denotes NF2 point mutations were identified in 21/28 (75%) tumour samples and loss of heterozygosity (LOH) in 21/28 (75%) tumour samples.
T7 735-802 Sentence denotes Both mutational hits were identified in 18/28 (65%) tumour samples.
T8 803-987 Sentence denotes In one multilobular tumour, one (presumably first hit) mutation was confirmed which was common to different foci of the tumour, while the second mutational event differed between foci.
T9 988-1176 Sentence denotes The molecular findings in this patient were consistent with somatic mosaicism for NF2 and the clinical diagnosis was confirmed with the presence of two meningiomas on a follow up MRI scan.
T10 1177-1362 Sentence denotes A further patient developed a contralateral vestibular schwannoma on a follow up MRI scan in whom neither of the truncating mutations in the vestibular schwannoma were present in blood.
T11 1363-1598 Sentence denotes It is important when counselling patients with unilateral vestibular schwannomas to identify (1) those at risk of bilateral disease, (2) those at risk of developing other tumours, and (3) other family members at risk of developing NF2.
T12 1599-1759 Sentence denotes Comparing tumour and blood DNA cannot exclude mosaicism in the index case and cannot, therefore, be used to predict those at risk of developing further tumours.
T13 1760-2018 Sentence denotes However, identification of both mutations or one mutation plus LOH in the tumour and exclusion of those mutations in the blood samples of the sibs or offspring of the affected case may be sufficient to render further screening unnecessary in these relatives.

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
12011146-0#34#37#gene4771 445-448 gene4771 denotes NF2
12011146-0#77#99#diseaseC0027859 1197-1263 diseaseC0027859 denotes veloped a contralateral vestibular schwannoma on a follow up MRI s
34#37#gene477177#99#diseaseC0027859 12011146-0#34#37#gene4771 12011146-0#77#99#diseaseC0027859 associated_with NF2,veloped a contralateral vestibular schwannoma on a follow up MRI s

BioLarkPubmedHPO

Id Subject Object Predicate Lexical cue
HP:0006746 101-118 HP:0006746 denotes Neurofibromatosis
HP:0009590 180-212 HP:0009590 denotes unilateral vestibular schwannoma
HP:0003593 218-227 HP:0003593 denotes young age
HP:0009590 377-409 HP:0009590 denotes unilateral vestibular schwannoma
HP:0002858 1140-1151 HP:0002858 denotes meningiomas
HP:0009589 1207-1242 HP:0009589 denotes contralateral vestibular schwannoma
HP:0009588 1318-1339 HP:0009588 denotes vestibular schwannoma
HP:0009590 1410-1443 HP:0009590 denotes unilateral vestibular schwannomas
HP:0003008 1534-1541 HP:0003008 denotes tumours
HP:0003008 1751-1758 HP:0003008 denotes tumours
T1 101-118 HP:0006746 denotes Neurofibromatosis
T2 180-212 HP:0009590 denotes unilateral vestibular schwannoma
T3 218-227 HP:0003593 denotes young age
T4 377-409 HP:0009590 denotes unilateral vestibular schwannoma
T5 1140-1151 HP:0002858 denotes meningiomas
T6 1207-1242 HP:0009589 denotes contralateral vestibular schwannoma
T7 1318-1339 HP:0009588 denotes vestibular schwannoma
T8 1410-1443 HP:0009590 denotes unilateral vestibular schwannomas
T9 1534-1541 HP:0003008 denotes tumours
T10 1751-1758 HP:0003008 denotes tumours
T1 101-118 HP:0006746 denotes Neurofibromatosis
T2 180-212 HP:0009590 denotes unilateral vestibular schwannoma
T3 218-227 HP:0003593 denotes young age
T4 377-409 HP:0009590 denotes unilateral vestibular schwannoma
T5 1140-1151 HP:0002858 denotes meningiomas
T6 1207-1242 HP:0009589 denotes contralateral vestibular schwannoma
T7 1318-1339 HP:0009588 denotes vestibular schwannoma
T8 1410-1443 HP:0009590 denotes unilateral vestibular schwannomas
T9 1534-1541 HP:0003008 denotes tumours
T10 1751-1758 HP:0003008 denotes tumours
T1 101-118 HP:0006746 denotes Neurofibromatosis
T2 180-212 HP:0009590 denotes unilateral vestibular schwannoma
T3 218-227 HP:0003593 denotes young age
T4 377-409 HP:0009590 denotes unilateral vestibular schwannoma
T5 1140-1151 HP:0002858 denotes meningiomas
T6 1207-1242 HP:0009589 denotes contralateral vestibular schwannoma
T7 1318-1339 HP:0009588 denotes vestibular schwannoma
T8 1410-1443 HP:0009590 denotes unilateral vestibular schwannomas
T9 1534-1541 HP:0003008 denotes tumours
T10 1751-1758 HP:0003008 denotes tumours

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 180-212 HP:0009590 denotes unilateral vestibular schwannoma
AB2 377-409 HP:0009590 denotes unilateral vestibular schwannoma
AB3 1140-1151 HP:0002858 denotes meningiomas
AB4 1221-1242 HP:0009588 denotes vestibular schwannoma
AB5 1318-1339 HP:0009588 denotes vestibular schwannoma

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 482-487 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T2 590-595 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T3 1356-1361 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T4 1620-1625 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T5 1881-1886 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 101-125 ORDO:637 denotes Neurofibromatosis type 2
AB2 127-130 ORDO:637 denotes NF2
TI1 34-37 ORDO:637 denotes NF2
AB3 445-448 ORDO:637 denotes NF2
AB4 546-549 ORDO:637 denotes NF2
AB5 605-608 ORDO:637 denotes NF2
AB6 751-755 ORDO:3325 denotes hits
AB7 853-856 ORDO:3325 denotes hit
AB8 1070-1073 ORDO:637 denotes NF2
AB9 1140-1151 ORDO:2495 denotes meningiomas
AB10 1594-1597 ORDO:637 denotes NF2

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 482-487 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T2 590-595 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T3 1356-1361 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T4 1620-1625 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T5 1881-1886 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood

DisGeNET

Id Subject Object Predicate Lexical cue
T0 34-37 gene:4771 denotes NF2
T1 77-99 disease:C0027859 denotes vestibular schwannomas
R1 T0 T1 associated_with NF2,vestibular schwannomas