Associated Papers
Kidney stones and metabolic bone diseases not linked to parathyroid disfunction: a proposal for an integrated management.
Vergatti A et al.
Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [di] Societa Italiana Di Ecografia Urologica E Nefrologica, 2025
Phosphate metabolism in primary hyperparathyroidism: a real-life long-term study.
Columbu C et al.
Endocrine, 2025
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Association of Serum Fibroblast Growth Factor 23 and FGF23 Gene Variants with Chronic Kidney Disease in Patients with Type 2 Diabetes and Essential Hypertension.
Mendoza-Carrera F et al.
Archives of Medical Research, 2023
Variation in the fibroblast growth factor 23 (FGF23) gene associates with serum FGF23 and bone strength in infants.
Enlund-Cerullo M et al.
Frontiers in Genetics, 2023
A novel frameshift mutation in TRPV6 is associated with hereditary pancreatitis.
Shah IA et al.
Frontiers in Genetics, 2022
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background.
Obara-Moszynska M et al.
Endokrynologia Polska, 2021
The Interaction of Single Nucleotide Polymorphisms on Fibroblast Growth Factor 19 Superfamily Genes Is Associated With Alcohol Dependence-Related Aggression.
Xu J et al.
Frontiers in Genetics, 2021
Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole-exome next generation sequencing.
Pytel V et al.
Brain and Behavior, 2019
Rare Co-occurrence of Beta-Thalassemia and Pseudoxanthoma elasticum: Novel Biomolecular Findings.
Boraldi F et al.
Frontiers in Medicine, 2019
Hyperphosphatemic tumoral calcinosis caused by FGF23 compound heterozygous mutations: what are the therapeutic options for a better control of phosphatemia?
Claramunt-Taberner D et al.
Pediatric Nephrology (berlin, Germany), 2018
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
Suarez-Kelly LP et al.
Cold Spring Harbor Molecular Case Studies, 2018
Fibroblast growth factor 23 (FGF23) gene polymorphisms are associated with essential hypertension risk and blood pressure levels in Chinese Han population.
Cai P et al.
Clinical and Experimental Hypertension (new York, N.y. : 1993), 2018
Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications.
Rafaelsen S et al.
European Journal of Endocrinology, 2016
FGF23 gene variation and its association with phosphate homeostasis and bone mineral density in Finnish children and adolescents.
Pekkinen M et al.
Bone, 2015
Single nucleotide polymorphisms in fibroblast growth factor 23 gene, FGF23, are associated with prostate cancer risk.
Kim HJ et al.
Bju International, 2014
A functional allelic variant of the FGF23 gene is associated with renal phosphate leak in calcium nephrolithiasis.
Rendina D et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Infantile hypercalcemia and hypercalciuria: new insights into a vitamin D-dependent mechanism and response to ketoconazole treatment.
Nguyen M et al.
The Journal of Pediatrics, 2010
A clinical and molecular genetic study of hypophosphatemic rickets in children.
Cho HY et al.
Pediatric Research, 2005
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.
Unknown Author
Nature Genetics, 2000
[Movement disorders in miscellaneous disorders--inherited metabolic diseases].
Mizuguchi M et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1993