Associated Papers
Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.
Jarrar Y et al.
Journal of Personalized Medicine, 2025
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Changes in bone metabolic parameters following oral calcium supplementation in an adult patient with vitamin D-dependent rickets type 2A.
Kinoshita Y et al.
Endocrine Journal, 2017
Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Malloy PJ et al.
Molecular Genetics and Metabolism, 2014
Calcium absorption, kinetics, bone density, and bone structure in patients with hereditary vitamin D-resistant rickets.
Tiosano D et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Inherited disorders of calcium homeostasis.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Hereditary 1,25-Dihydroxyvitamin D-resistant rickets.
Malloy PJ et al.
Endocrine Development, 2003
Genetic disorders of calcium and phosphorus metabolism.
Root AW
Critical Reviews in Clinical Laboratory Sciences, 2000
The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Malloy PJ et al.
Endocrine Reviews, 1999
Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner.
Whitfield GK et al.
Molecular Endocrinology (baltimore, Md.), 1996
[An unusual form of primary vitamin D-resistant rickets with hypocalcemia and autosomal-dominant hereditary transmission: hereditary pseudo-deficiency rickets].
PRADER A et al.
Helvetica Paediatrica Acta, 1961
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