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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: sobrero g. Endocrine. 2022 Jun;77(1):86-101. doi: 10.1007/s12020-022-03054-3. Epub 2022 May 4. Endocrine. 2022. PMID: 35507000
Iodide transport defect: functional characterization of a novel mutation in the Na+/I- symporter 5'-untranslated region in a patient with congenital hypothyroidism.
Nicola JP, Nazar M, Serrano-Nascimento C, Goulart-Silva F, Sobrero G, Testa G, Nunes MT, Muñoz L, Miras M, Masini-Repiso AM. Nicola JP, et al. Among authors: sobrero g. J Clin Endocrinol Metab. 2011 Jul;96(7):E1100-7. doi: 10.1210/jc.2011-0349. Epub 2011 May 11. J Clin Endocrinol Metab. 2011. PMID: 21565787
Comparative analysis of clinical, biochemical and genetic aspects associated with bone mineral density in small for gestational age children.
Silvano L, Miras M, Pérez A, Picotto G, Díaz de Barboza G, Muñoz L, Martin S, Sobrero G, Armelini P, Mericq V, Tolosa de Talamoni N; Collaborating Group of Hospital de Niños de la Santísima Trinidad. Silvano L, et al. Among authors: sobrero g. J Pediatr Endocrinol Metab. 2011;24(7-8):511-7. doi: 10.1515/jpem.2011.196. J Pediatr Endocrinol Metab. 2011. PMID: 21932590
Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.
Belforte FS, Miras MB, Olcese MC, Sobrero G, Testa G, Muñoz L, Gruñeiro-Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM, Rivolta CM. Belforte FS, et al. Among authors: sobrero g. Clin Endocrinol (Oxf). 2012 Apr;76(4):568-76. doi: 10.1111/j.1365-2265.2011.04249.x. Clin Endocrinol (Oxf). 2012. PMID: 21981063
New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.
Citterio CE, Machiavelli GA, Miras MB, Gruñeiro-Papendieck L, Lachlan K, Sobrero G, Chiesa A, Walker J, Muñoz L, Testa G, Belforte FS, González-Sarmiento R, Rivolta CM, Targovnik HM. Citterio CE, et al. Among authors: sobrero g. Mol Cell Endocrinol. 2013 Jan 30;365(2):277-91. doi: 10.1016/j.mce.2012.11.002. Epub 2012 Nov 16. Mol Cell Endocrinol. 2013. PMID: 23164529
Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis.
Belforte FS, Citterio CE, Testa G, Olcese MC, Sobrero G, Miras MB, Targovnik HM, Rivolta CM. Belforte FS, et al. Among authors: sobrero g. Mol Cell Endocrinol. 2016 Jan 5;419:172-84. doi: 10.1016/j.mce.2015.10.014. Epub 2015 Oct 24. Mol Cell Endocrinol. 2016. PMID: 26506010
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