Associated Papers
A deep intronic PHEX variant associated with X-linked hypophosphatemia in a Finnish family.
Koponen L et al.
Jbmr Plus, 2025
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
Quality of life of 26 family members from four generations with X-linked hypophosphatemia: a cross-sectional study.
Alsagheir AI et al.
Frontiers in Endocrinology, 2025
Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.
Wu H et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
X-linked hypophosphatemia caused by a deep intronic variant in PHEX identified by PCR-based RNA analysis of urine-derived cells.
Grimbly C et al.
Bone, 2023
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
Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.
Rodríguez-Rubio E et al.
Orphanet Journal of Rare Diseases, 2021
Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia.
Lin X et al.
Frontiers in Cell and Developmental Biology, 2021
Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting.
Thiele S et al.
European Journal of Endocrinology, 2020
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
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia.
Zhang C et al.
Bone, 2019
A novel PHEX mutation associated with vitamin D-resistant rickets.
Sako S et al.
Human Genome Variation, 2019
Genetic analysis of three families with X-linked dominant hypophosphatemic rickets.
Lin X et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.
Acar S et al.
Plos One, 2018
Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets.
Capelli S et al.
Bone, 2015
Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.
Huang Y et al.
Gene, 2015
A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature.
Cheon CK et al.
Annals of Pediatric Endocrinology & Metabolism, 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
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
Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.
Ruppe MD et al.
Clinical Endocrinology, 2011
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.
Gaucher C et al.
Human Genetics, 2009
Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.
Lo FS et al.
Nephron. Physiology, 2006
A clinical and molecular genetic study of hypophosphatemic rickets in children.
Cho HY et al.
Pediatric Research, 2005
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
Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.
Sato K et al.
Pediatric Research, 2000
Genetic disorders of calcium and phosphorus metabolism.
Root AW
Critical Reviews in Clinical Laboratory Sciences, 2000
PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.
Sabbagh Y et al.
Human Mutation, 2000
Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.
Filisetti D et al.
European Journal of Human Genetics : Ejhg, 1999
Mutational analysis of PHEX gene in X-linked hypophosphatemia.
Dixon PH et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.
Francis F et al.
Genome Research, 1997
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
Combined Treatment With Leuprolide Acetate and Burosumab in X-linked Hypophosphatemia and Precocious Puberty: A Therapeutic Response.
Tempone Cardoso Penna G et al.
Aace Clinical Case Reports, 0