Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

(2018) Emma J. Ashton et al.   KIDNEY INTERNATIONAL

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

(2018) Ankana Daga et al.   KIDNEY INTERNATIONAL

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases

(2017) Ewa Pronicka et al.   JOURNAL OF APPLIED GENETICS

Control of phosphate balance by the kidney and intestine

(2016) Ichiro Kaneko et al.   Clinical and Experimental Nephrology

Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency

(2016) Dganit Dinour et al.   PEDIATRIC NEPHROLOGY

Maternal Mineral and Bone Metabolism During Pregnancy, Lactation, and Post-Weaning Recovery

(2016) Christopher S. Kovacs   PHYSIOLOGICAL REVIEWS

Kidney Function and Influence of Sunlight Exposure in Patients With Impaired 24-Hydroxylation of Vitamin D Due to CYP24A1 Mutations

(2015) Marie-Lucile Figueres et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

CYP24A1Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait

(2015) A. Molin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

(2015) K. P. Schlingmann et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Loss-of-Function Mutations of CYP24A1, the Vitamin D 24-Hydroxylase Gene, Cause Long-standing Hypercalciuric Nephrolithiasis and Nephrocalcinosis

(2013) Dganit Dinour et al.   JOURNAL OF UROLOGY

Mutations inCYP24A1and Idiopathic Infantile Hypercalcemia

(2011) Karl P. Schlingmann et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Loss-of-Function Mutation in NaPi-IIa and Renal Fanconi's Syndrome

(2010) Daniella Magen et al.   NEW ENGLAND JOURNAL OF MEDICINE

Intestinal Npt2b Plays a Major Role in Phosphate Absorption and Homeostasis

(2009) Y. Sabbagh et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY