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A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis.
Filges I, Kunz C, Miny P, Boesch N, Szinnai G, Wenzel F, Tschudin S, Zumsteg U, Heinimann K. Filges I, et al. Among authors: szinnai g. Fertil Steril. 2011 Oct;96(4):851-5. doi: 10.1016/j.fertnstert.2011.07.1137. Epub 2011 Aug 24. Fertil Steril. 2011. PMID: 21868002 Free article.
Plasma pro-endothelin-1 and respiratory distress in newborn infants.
Benzing J, Stabile O, Szinnai G, Morgenthaler NG, Schulzke SM, Bührer C, Wellmann S. Benzing J, et al. Among authors: szinnai g. J Pediatr. 2012 Mar;160(3):517-9. doi: 10.1016/j.jpeds.2011.10.011. Epub 2011 Nov 20. J Pediatr. 2012. PMID: 22099523 Free article.
Clinical case seminar in pediatric thyroid disease.
Szinnai G, Léger J, Bauer AJ, Pearce EN, Ramos HE, Canalli MH, Onigata K, Elisei R, Radetti G, Polak M, Van Vliet G, Deladoëy J. Szinnai G, et al. Endocr Dev. 2014;26:214-44. doi: 10.1159/000363166. Epub 2014 Aug 29. Endocr Dev. 2014. PMID: 25231455
75 results