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Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism.
Geysels RC, Bernal Barquero CE, Martín M, Peyret V, Nocent M, Sobrero G, Muñoz L, Signorino M, Testa G, Castro RB, Masini-Repiso AM, Miras MB, Nicola JP. Geysels RC, et al. Among authors: sobrero g. Front Endocrinol (Lausanne). 2022 May 4;13:868891. doi: 10.3389/fendo.2022.868891. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35600585 Free PMC article.
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
37 results