> top > projects > sentences > docs > PubMed:24123776 > annotations
sentences Home  

PubMed:24123776 JSONTXT 11 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-127 Sentence denotes Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
T1 0-127 Sentence denotes Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
TextSentencer_T2 128-340 Sentence denotes Sensenbrenner syndrome, also known as cranioectodermal dysplasia, is a rare multiple anomaly syndrome with distinctive craniofacial appearance, skeletal, ectodermal, connective tissue, renal, and liver anomalies.
T2 128-340 Sentence denotes Sensenbrenner syndrome, also known as cranioectodermal dysplasia, is a rare multiple anomaly syndrome with distinctive craniofacial appearance, skeletal, ectodermal, connective tissue, renal, and liver anomalies.
TextSentencer_T3 341-460 Sentence denotes Dramatic advances with next-generation sequencing have expanded its phenotypic variability and molecular heterogeneity.
T3 341-460 Sentence denotes Dramatic advances with next-generation sequencing have expanded its phenotypic variability and molecular heterogeneity.
TextSentencer_T4 461-670 Sentence denotes We review 39 patients including two new patients, one with compound heterozygous novel mutations in WDR35 and a previously unreported multisutural craniosynostosis that may be a part of Sensenbrenner syndrome.
T4 461-670 Sentence denotes We review 39 patients including two new patients, one with compound heterozygous novel mutations in WDR35 and a previously unreported multisutural craniosynostosis that may be a part of Sensenbrenner syndrome.
TextSentencer_T5 671-810 Sentence denotes In 14 of 25 (56.0%) patients pathogenic mutations have been identified in 4 different genes that regulate (intraflagellar) cilia transport.
T5 671-810 Sentence denotes In 14 of 25 (56.0%) patients pathogenic mutations have been identified in 4 different genes that regulate (intraflagellar) cilia transport.
TextSentencer_T6 811-928 Sentence denotes We compared Sensenbrenner syndrome to asphyxiating thoracic dystrophy-Jeune syndrome (ATD-JS) and other ciliopathies.
T6 811-928 Sentence denotes We compared Sensenbrenner syndrome to asphyxiating thoracic dystrophy-Jeune syndrome (ATD-JS) and other ciliopathies.
TextSentencer_T7 929-1152 Sentence denotes Our analyses showed that the high anterior hairline, forehead bossing and dolichocephaly (accompanied by sagittal craniosynostosis in more than half of the patients) occur in almost all patients with Sensenbrenner syndrome.
T7 929-1152 Sentence denotes Our analyses showed that the high anterior hairline, forehead bossing and dolichocephaly (accompanied by sagittal craniosynostosis in more than half of the patients) occur in almost all patients with Sensenbrenner syndrome.
TextSentencer_T8 1153-1287 Sentence denotes Metaphyseal dysplasia with narrow thorax, proximal limb shortness, and short fingers are typical of Sensenbrenner syndrome and ATD-JS.
T8 1153-1287 Sentence denotes Metaphyseal dysplasia with narrow thorax, proximal limb shortness, and short fingers are typical of Sensenbrenner syndrome and ATD-JS.
TextSentencer_T9 1288-1400 Sentence denotes Respiratory complications have been reported in both syndromes, usually less severe with Sensenbrenner syndrome.
T9 1288-1400 Sentence denotes Respiratory complications have been reported in both syndromes, usually less severe with Sensenbrenner syndrome.
TextSentencer_T10 1401-1587 Sentence denotes Proposed diagnostic criteria for Sensenbrenner syndrome include the distinctive craniofacial appearance, ubiquitous brachydactyly and ectodermal anomalies, and sagittal craniosynostosis.
T10 1401-1587 Sentence denotes Proposed diagnostic criteria for Sensenbrenner syndrome include the distinctive craniofacial appearance, ubiquitous brachydactyly and ectodermal anomalies, and sagittal craniosynostosis.
TextSentencer_T11 1588-1738 Sentence denotes Mild heart defects have been noted, but there have been no atrioventricular canal or heterotaxy defects that are common in Ellis-Van Creveld syndrome.
T11 1588-1738 Sentence denotes Mild heart defects have been noted, but there have been no atrioventricular canal or heterotaxy defects that are common in Ellis-Van Creveld syndrome.
TextSentencer_T12 1739-1864 Sentence denotes We anticipate that the steady identification of molecularly defined patients may allow correlation of phenotype and genotype.
T12 1739-1864 Sentence denotes We anticipate that the steady identification of molecularly defined patients may allow correlation of phenotype and genotype.
TextSentencer_T13 1865-1952 Sentence denotes Additional natural history data will improve genetic counseling and current guidelines.
T13 1865-1952 Sentence denotes Additional natural history data will improve genetic counseling and current guidelines.