Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 3 of 3 for “"Macroglossia"”.
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Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome
… detected. We found significant associations of macroglossia and facial naevus flammeus with IC2 epimutations (P < 0.01), and organomegaly with paternal uniparental disomy and IC1 (P < 0.001).Predictive values of previously described clinical diagnostic criteria were compared, and although there …
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Large offspring syndrome, a bovine model for the human loss-of-imprinting overgrowth syndrome Beckwith-Wiedemann
… syndrome primarily characterized by macrosomia, macroglossia, and abdominal wall defects. BWS has been associated with misregulation of two clusters of imprinted genes. Children conceived with the use of assisted reproductive technologies (ART) appear to have an increased incidence of BWS. As in …
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AMILOIDOSE - DEMANDAS E PERFIL FONOAUDIOLÓGICO: Revisão de literatura
… is affected, an easily identified aspect is macroglossia. Objectives: This study seeks to identify the speech therapy demand in patients with amyloid deposit disease and what interventions speech therapy can propose together with the other professionals of the multidisciplinary team. …