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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-112 Sentence denotes Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscular dystrophy.
TextSentencer_T2 113-222 Sentence denotes Clinically manifesting carriers of Duchenne muscular dystrophy (DMD) are rare among the pediatric population.
TextSentencer_T3 223-504 Sentence denotes A standardized diagnostic procedure in supposed DMD carriers entails performing a Multiplex Ligation-dependent Probe Amplification analysis of the DMD gene first, then taking a muscle biopsy to confirm reduced dystrophin levels and/or finally a complete sequencing of the DMD gene.
TextSentencer_T4 505-588 Sentence denotes We describe a girl with high-elevated creatine kinase, myalgia, and cardiomyopathy.
TextSentencer_T5 589-674 Sentence denotes Muscle biopsy showed a dystrophic pattern and nearly absent expression of dystrophin.
TextSentencer_T6 675-740 Sentence denotes Diagnosis could not be confirmed by molecular genetic procedures.
TextSentencer_T7 741-980 Sentence denotes Because of a mild mental retardation, a chromosome analysis and molecular karyotyping were performed, revealing a balanced translocation t(X;4)(p21;q31).arr(1-22,X)x2 dn with breakpoint on the X-chromosome within an intron of the DMD gene.
TextSentencer_T8 981-1178 Sentence denotes The inactivation of the nonderivative X-chromosome was found to be in a nonrandom pattern, resulting in a functionally balanced karyotype and thus leading to a manifesting DMD carrier in this case.
TextSentencer_T9 1179-1312 Sentence denotes Chromosome analysis should be recommended in cases of genetically unsolved DMD carriers as a part of the standard genetic procedures.
T1 0-112 Sentence denotes Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscular dystrophy.
T2 113-222 Sentence denotes Clinically manifesting carriers of Duchenne muscular dystrophy (DMD) are rare among the pediatric population.
T3 223-504 Sentence denotes A standardized diagnostic procedure in supposed DMD carriers entails performing a Multiplex Ligation-dependent Probe Amplification analysis of the DMD gene first, then taking a muscle biopsy to confirm reduced dystrophin levels and/or finally a complete sequencing of the DMD gene.
T4 505-588 Sentence denotes We describe a girl with high-elevated creatine kinase, myalgia, and cardiomyopathy.
T5 589-674 Sentence denotes Muscle biopsy showed a dystrophic pattern and nearly absent expression of dystrophin.
T6 675-740 Sentence denotes Diagnosis could not be confirmed by molecular genetic procedures.
T7 741-980 Sentence denotes Because of a mild mental retardation, a chromosome analysis and molecular karyotyping were performed, revealing a balanced translocation t(X;4)(p21;q31).arr(1-22,X)x2 dn with breakpoint on the X-chromosome within an intron of the DMD gene.
T8 981-1178 Sentence denotes The inactivation of the nonderivative X-chromosome was found to be in a nonrandom pattern, resulting in a functionally balanced karyotype and thus leading to a manifesting DMD carrier in this case.
T9 1179-1312 Sentence denotes Chromosome analysis should be recommended in cases of genetically unsolved DMD carriers as a part of the standard genetic procedures.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 157-175 HP_0003560 denotes muscular dystrophy
T2 534-558 HP_0008331 denotes elevated creatine kinase
T3 534-558 HP_0003236 denotes elevated creatine kinase
T4 560-567 HP_0003326 denotes myalgia
T5 573-587 HP_0001638 denotes cardiomyopathy
T6 754-777 HP_0001256 denotes mild mental retardation
T7 759-777 HP_0001249 denotes mental retardation

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 157-175 HP:0003560 denotes muscular dystrophy
TI1 93-111 HP:0003560 denotes muscular dystrophy
AB2 560-567 HP:0003326 denotes myalgia
AB3 573-587 HP:0001638 denotes cardiomyopathy

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 148-175 ORDO:98896 denotes Duchenne muscular dystrophy
AB2 177-180 ORDO:98896 denotes DMD
TI1 84-111 ORDO:98896 denotes duchenne muscular dystrophy
AB3 271-274 ORDO:98896 denotes DMD
AB4 370-373 ORDO:98896 denotes DMD
AB5 495-498 ORDO:98896 denotes DMD
AB6 971-974 ORDO:98896 denotes DMD
AB7 1153-1156 ORDO:98896 denotes DMD
AB8 1254-1257 ORDO:98896 denotes DMD