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PubMed:18681856 JSONTXT 31 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-144 Sentence denotes Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene.
T1 0-144 Sentence denotes Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene.
TextSentencer_T2 145-155 Sentence denotes OBJECTIVE:
T2 145-155 Sentence denotes OBJECTIVE:
TextSentencer_T3 156-339 Sentence denotes To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene.
T3 156-339 Sentence denotes To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene.
TextSentencer_T4 340-349 Sentence denotes PATIENTS:
T4 340-349 Sentence denotes PATIENTS:
TextSentencer_T5 350-443 Sentence denotes Three affected individuals from the same family (a father and his two children) were studied.
T5 350-443 Sentence denotes Three affected individuals from the same family (a father and his two children) were studied.
TextSentencer_T6 444-501 Sentence denotes Clinical and imaging findings were reviewed and compared.
T6 444-501 Sentence denotes Clinical and imaging findings were reviewed and compared.
TextSentencer_T7 502-519 Sentence denotes GENETIC ANALYSIS:
T7 502-519 Sentence denotes GENETIC ANALYSIS:
TextSentencer_T8 520-722 Sentence denotes Genomic DNA was extracted from peripheral blood leukocytes and mutation analysis of the entire coding sequence of the TSHR gene was performed in both children and their parents by direct DNA sequencing.
T8 520-722 Sentence denotes Genomic DNA was extracted from peripheral blood leukocytes and mutation analysis of the entire coding sequence of the TSHR gene was performed in both children and their parents by direct DNA sequencing.
TextSentencer_T9 723-731 Sentence denotes RESULTS:
T9 723-731 Sentence denotes RESULTS:
TextSentencer_T10 732-958 Sentence denotes A heterozygous germline T to C transition in exon 10 of the TSHR gene (c.1358T-->C) resulting in the substitution of methionine (ATG) by threonine (ACG) at codon 453 (p.M453T) was identified in the father and his two children.
T10 732-958 Sentence denotes A heterozygous germline T to C transition in exon 10 of the TSHR gene (c.1358T-->C) resulting in the substitution of methionine (ATG) by threonine (ACG) at codon 453 (p.M453T) was identified in the father and his two children.
TextSentencer_T11 959-1033 Sentence denotes They presented with different clinical severity and variable age of onset.
T11 959-1033 Sentence denotes They presented with different clinical severity and variable age of onset.
TextSentencer_T12 1034-1236 Sentence denotes In addition to hyperthyroidism, ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers were consistently found in all affected individuals.
T12 1034-1236 Sentence denotes In addition to hyperthyroidism, ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers were consistently found in all affected individuals.
TextSentencer_T13 1237-1249 Sentence denotes CONCLUSIONS:
T13 1237-1249 Sentence denotes CONCLUSIONS:
TextSentencer_T14 1250-1456 Sentence denotes Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation.
T14 1250-1456 Sentence denotes Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation.
TextSentencer_T15 1457-1616 Sentence denotes In addition, the shortening of the middle phalanges of the fifth fingers has never been previously described, expanding the phenotypic spectrum of the disease.
T15 1457-1616 Sentence denotes In addition, the shortening of the middle phalanges of the fifth fingers has never been previously described, expanding the phenotypic spectrum of the disease.