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ea0081ep8 | Adrenal and Cardiovascular Endocrinology | ECE2022

The spectrum of CYP21A2 copy number variations and gene mutations by MLPA in a pediatric Romanian population with 21-hydroxylase deficiency

Schipor Sorina , Nedelcu Ioana , Procopiuc Camelia , Braha Elena , Boboc Madalina , Brehar Andreea , Muresan Andrei , Dumitrica Alina , Popa Oana-Monica , Caragheorgheopol Andra , Manda Dana , Vladoiu Susana , Gherlan Iuliana

Objective: The analysis of the copy number variation of CYP21A2 gene in a cohort of 21-hydroxylase deficiency (21-OHD) pediatric patients in a tertiary referral center from Romania.Methods: A total of 24 patients (21 female and 3 male, 7:1 female to male sex ratio) with previously biochemically and clinically diagnosed 21-OHD were enrolled in this study from October 2020 to October 2021. The age at the diagnosis was 4.6±4.8 years (mean&#177...

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ea0049ep1216 | Clinical case reports - Thyroid/Others | ECE2017

miRNAs microarray differential profile in papillary thyroid carcinoma

Schipor Sorina , Niculescu Ana-Maria , Botezatu Anca , Ioachim Dumitru , Manda Dana , Caragheorgheopol Andra , Picu Catalina , Popa Oana , Nedelcu Ioana , Badiu Corin

Introduction: The deregulation in miRNA expression has been described in thyroid tumors, and is considered an important factor in thyroid carcinogenesis. mRNA expression profiling in cancer allows identifications of signatures associated with diagnosis, staging, prognosis, and response to treatment.Objective: We aimed to detect miRNAs species differentially expressed between tumor and peritumoral tissue in papillary thyroid carcinoma.<p class="abstex...

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Endocrine Abstracts

The spectrum of CYP21A2 copy number variations and gene mutations by MLPA in a pediatric Romanian population with 21-hydroxylase deficiency

miRNAs microarray differential profile in papillary thyroid carcinoma

BiosciAbstracts