Associated Papers
Clinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype-Genotype Correlation.
Olivas-Valdez MA et al.
Diagnostics (basel, Switzerland), 2025
A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype.
Borghi M et al.
Frontiers in Pediatrics, 2023
Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.
Sinha R et al.
Pediatric Nephrology (berlin, Germany), 2022
X-linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment.
Bermeo Cabrera MJ et al.
Clinical Case Reports, 2022
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
Rush ET et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).
Sarafrazi S et al.
Human Mutation, 2022
Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia.
Xu T et al.
Frontiers in Endocrinology, 2022
Clinical and molecular characterization of Chilean patients with X-linked hypophosphatemia.
Jiménez M 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, 2021
X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background.
Obara-Moszynska M et al.
Endokrynologia Polska, 2021
Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia.
Lin X et al.
Frontiers in Cell and Developmental Biology, 2021
Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation.
Zheng B et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets.
BinEssa HA et al.
Bone, 2019
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia.
Zhang C et al.
Bone, 2019
Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar.
Fahiminiya S et al.
Clinical Genetics, 2014
[Three PHEX gene mutations in Chinese subjects with hypophosphatemic rickets and literature review].
Liu S et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2014
Novel and de novo PHEX mutations in patients with hypophosphatemic rickets.
Durmaz E et al.
Bone, 2013
Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.
Beck-Nielsen SS et al.
Journal of Human Genetics, 2012
Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment.
Quinlan C et al.
Pediatric Nephrology (berlin, Germany), 2012
Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.
Morey M et al.
Bmc Medical Genetics, 2011
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.
Gaucher C et al.
Human Genetics, 2009
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.
Ichikawa S et al.
Bone, 2008
Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.
Lo FS et al.
Nephron. Physiology, 2006
Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets.
Holm IA et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients.
Su PH et al.
In Vivo (athens, Greece), 0
Reclassification of Hypophosphatemic Bone Disease as X-Linked Hypophosphatemia Following Genetic Testing in Adulthood.
Kamel L et al.
Aace Endocrinology and Diabetes, 0