V. Radonsky

Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities.

V. Dichtchekenian, H. Kuperman, D. Damiani, 2011, Arquivos brasileiros de endocrinologia e metabologia.

Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene.

A. Hattersley, S. Ellard, D. Damiani, 2008, Arquivos brasileiros de endocrinologia e metabologia.

Hypomagnesemia with Hypercalciuria Leading to Nephrocalcinosis, Amelogenesis Imperfecta, and Short Stature in a Child Carrying a Homozygous Deletion in the CLDN16 Gene

I. Heilberg, M. Dias-da-Silva, M. M. L. Kizys, 2020, Calcified Tissue International.

Decrease of Serum Alkaline Phosphatase after Three Cycles of Pamidronate Disodium in Children with Severe Osteogenesis Imperfecta

V. Dichtchekenian, H. Kuperman, D. Damiani, 2007, Hormone Research in Paediatrics.