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Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.
van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M. van Trotsenburg P, et al. Among authors: szinnai g. Thyroid. 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. Thyroid. 2021. PMID: 33272083 Free PMC article. Review.
Molecular mechanisms of thyroid dysgenesis.
Polak M, Sura-Trueba S, Chauty A, Szinnai G, Carré A, Castanet M. Polak M, et al. Among authors: szinnai g. Horm Res. 2004;62 Suppl 3:14-21. doi: 10.1159/000080494. Horm Res. 2004. PMID: 15539794 Review.
Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome.
Teissier R, Guillot L, Carré A, Morandini M, Stuckens C, Ythier H, Munnich A, Szinnai G, de Blic J, Clement A, Leger J, Castanet M, Epaud R, Polak M. Teissier R, et al. Among authors: szinnai g. Horm Res Paediatr. 2012;77(3):146-51. doi: 10.1159/000337214. Epub 2012 Apr 5. Horm Res Paediatr. 2012. PMID: 22488412
European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.
Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, Polak M, Butler G; ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE; Congenital Hypothyroidism Consensus Conference Group. Léger J, et al. J Clin Endocrinol Metab. 2014 Feb;99(2):363-84. doi: 10.1210/jc.2013-1891. Epub 2014 Jan 21. J Clin Endocrinol Metab. 2014. PMID: 24446653 Free PMC article.
Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion.
Cerqueira TL, Carré A, Chevrier L, Szinnai G, Tron E, Léger J, Cabrol S, Queinnec C, De Roux N, Castanet M, Polak M, Ramos HE. Cerqueira TL, et al. Among authors: szinnai g. J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):777-84. doi: 10.1515/jpem-2014-0194. J Pediatr Endocrinol Metab. 2015. PMID: 25153578
76 results