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PubMed:23528641 JSONTXT 11 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-131 Sentence denotes 263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.
T1 0-131 Sentence denotes 263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.
TextSentencer_T2 132-289 Sentence denotes Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes.
T2 132-289 Sentence denotes Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes.
TextSentencer_T3 290-455 Sentence denotes It is mainly characterized by severe intellectual disability, overbreathing, a typical facial gestalt, tendency to epilepsy and is caused by TCF4 haploinsufficiency.
T3 290-455 Sentence denotes It is mainly characterized by severe intellectual disability, overbreathing, a typical facial gestalt, tendency to epilepsy and is caused by TCF4 haploinsufficiency.
TextSentencer_T4 456-663 Sentence denotes We report on a 14-year old boy, born to healthy non-consanguineous parents, with a PTHS spectrum phenotype, presenting with moderate to severe developmental delay, severe speech delay and facial dysmorphism.
T4 456-663 Sentence denotes We report on a 14-year old boy, born to healthy non-consanguineous parents, with a PTHS spectrum phenotype, presenting with moderate to severe developmental delay, severe speech delay and facial dysmorphism.
TextSentencer_T5 664-846 Sentence denotes Genetic investigation using array-based comparative genomic hybridization (array-CGH) with a 400K custom array, revealed a 263.4 kb deletion within the TCF4 gene, removing exons 4-9.
T5 664-846 Sentence denotes Genetic investigation using array-based comparative genomic hybridization (array-CGH) with a 400K custom array, revealed a 263.4 kb deletion within the TCF4 gene, removing exons 4-9.
TextSentencer_T6 847-947 Sentence denotes Parental array-CGH analysis was also performed, indicating paternal mosaicism for the same deletion.
T6 847-947 Sentence denotes Parental array-CGH analysis was also performed, indicating paternal mosaicism for the same deletion.
TextSentencer_T7 948-1006 Sentence denotes The mosaicism was confirmed by Quantitative Real-Time PCR.
T7 948-1006 Sentence denotes The mosaicism was confirmed by Quantitative Real-Time PCR.
TextSentencer_T8 1007-1089 Sentence denotes The current report describes a new TCF4 deletion associated with a PTHS phenotype.
T8 1007-1089 Sentence denotes The current report describes a new TCF4 deletion associated with a PTHS phenotype.
TextSentencer_T9 1090-1229 Sentence denotes Moreover, it is the first case to our knowledge, where such a deletion is shown to be inherited from a clinically unaffected mosaic parent.
T9 1090-1229 Sentence denotes Moreover, it is the first case to our knowledge, where such a deletion is shown to be inherited from a clinically unaffected mosaic parent.
TextSentencer_T10 1230-1352 Sentence denotes Our results highlight the importance of parental testing in this setting for more accurate and focused prenatal diagnosis.
T10 1230-1352 Sentence denotes Our results highlight the importance of parental testing in this setting for more accurate and focused prenatal diagnosis.
TextSentencer_T11 1353-1467 Sentence denotes The level and tissue-specificity of mosaicism in the father would be an interesting direction for further studies.
T11 1353-1467 Sentence denotes The level and tissue-specificity of mosaicism in the father would be an interesting direction for further studies.