Associated Papers
Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population.
Bin-Abbas B et al.
Journal of the Endocrine Society, 2026
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
Siblings with vitamin D-dependent rickets type 1A: Importance of genetic testing and a review of genotype-phenotype correlations.
Wang LK et al.
American Journal of Medical Genetics. Part A, 2024
Residual risk for additional recessive diseases in consanguineous couples.
AlAbdi L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.
Kaygusuz SB et al.
Calcified Tissue International, 2021
Acute respiratory failure and generalized hypotonia secondary to vitamin D dependent rickets type 1A.
Ahmad N et al.
International Journal of Pediatrics & Adolescent Medicine, 2018
Novel mutations of CYP27B1 gene lead to reduced activity of 1α-hydroxylase in Chinese patients.
Cui N et al.
Bone, 2012
Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations.
Zou M et al.
Endocrine, 2011
Inherited disorders of calcium homeostasis.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency.
Kim CJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Identification of the amino acid residue of CYP27B1 responsible for binding of 25-hydroxyvitamin D3 whose mutation causes vitamin D-dependent rickets type 1.
Yamamoto K et al.
The Journal of Biological Chemistry, 2005
Homology modeling of human 25-hydroxyvitamin D3 1alpha-hydroxylase (CYP27B1) based on the crystal structure of rabbit CYP2C5.
Yamamoto K et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2004
Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.
Wang X et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Human 25-hydroxyvitamin D-1alpha-hydroxylase: cloning, mutations, and gene expression.
Portale AA et al.
Pediatric Nephrology (berlin, Germany), 2000
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.
Wang JT et al.
American Journal of Human Genetics, 1998
Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature.
Dhull RS et al.
Jornal Brasileiro De Nefrologia, 0