Associated Papers
Structural aspects of Vitamin D endocrinology.
Rochel N et al.
Molecular and Cellular Endocrinology, 2017
Transcriptional activation of the wild-type and mutant vitamin D receptors by vitamin D3 analogs.
Futawaka K et al.
Journal of Molecular Endocrinology, 2016
Normal bone mass and normocalcemia in adulthood despite homozygous vitamin D receptor mutations.
Damiani FM et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2015
Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Malloy PJ et al.
Molecular Genetics and Metabolism, 2014
Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets.
Feldman D et al.
Bonekey Reports, 2014
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 et al.
Hormone Research in Paediatrics, 2014
Presence of a deletion mutation (c.716delA) in the ligand binding domain of the vitamin D receptor in an Indian patient with vitamin D-dependent rickets type II.
Kanakamani J et al.
Calcified Tissue International, 2010
Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Macedo LC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
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