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Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.
Bernal Barquero CE, Geysels RC, Jacques V, Carro GH, Martín M, Peyret V, Abregú MC, Papendieck P, Masini-Repiso AM, Savagner F, Chiesa AE, Citterio CE, Nicola JP. Bernal Barquero CE, et al. Among authors: papendieck p. Int J Mol Sci. 2022 Aug 17;23(16):9251. doi: 10.3390/ijms23169251. Int J Mol Sci. 2022. PMID: 36012511 Free PMC article.
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Molina MF, Papendieck P, Sobrero G, Balbi VA, Belforte FS, Martínez EB, Adrover E, Olcese MC, Chiesa A, Miras MB, González VG, Pio MG, González-Sarmiento R, Targovnik HM, Rivolta CM. Molina MF, et al. Among authors: papendieck p. Endocrine. 2022 Jun;77(1):86-101. doi: 10.1007/s12020-022-03054-3. Epub 2022 May 4. Endocrine. 2022. PMID: 35507000
Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism.
Siffo S, Adrover E, Citterio CE, Miras MB, Balbi VA, Chiesa A, Weill J, Sobrero G, González VG, Papendieck P, Martinez EB, Gonzalez-Sarmiento R, Rivolta CM, Targovnik HM. Siffo S, et al. Among authors: papendieck p. Mol Cell Endocrinol. 2018 Sep 15;473:1-16. doi: 10.1016/j.mce.2017.12.009. Epub 2017 Dec 22. Mol Cell Endocrinol. 2018. PMID: 29275168
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