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Identification of a novel nonsense mutation in the ligand-binding domain of the vitamin d receptor gene and clinical description of two greek patients with hereditary vitamin d-resistant rickets and alopecia.
Papadopoulou A, Bountouvi E, Gole E, Doulgeraki A, Tournis S, Papadimitriou A, Nicolaidou P. Papadopoulou A, et al. Among authors: papadimitriou a. Horm Res Paediatr. 2014;82(3):206-12. doi: 10.1159/000362618. Epub 2014 Jul 23. Horm Res Paediatr. 2014. PMID: 25060608
Low TSH congenital hypothyroidism: identification of a novel mutation of the TSH beta-subunit gene in one sporadic case (C85R) and of mutation Q49stop in two siblings with congenital hypothyroidism.
Sertedaki A, Papadimitriou A, Voutetakis A, Dracopoulou M, Maniati-Christidi M, Dacou-Voutetakis C. Sertedaki A, et al. Among authors: papadimitriou a. Pediatr Res. 2002 Dec;52(6):935-41. doi: 10.1203/00006450-200212000-00020. Pediatr Res. 2002. PMID: 12438673
Isolated scrotal hair in infancy.
Papadimitriou A, Beri D, Nicolaidou P. Papadimitriou A, et al. J Pediatr. 2006 May;148(5):690-1. doi: 10.1016/j.jpeds.2005.12.046. J Pediatr. 2006. PMID: 16737889
The tempo of puberty.
Papadimitriou A, Fretzayas A, Nicolaidou P. Papadimitriou A, et al. J Pediatr. 2006 Nov;149(5):732-3; author reply 733. doi: 10.1016/j.jpeds.2006.05.033. J Pediatr. 2006. PMID: 17095363 No abstract available.
321 results