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
Exome Sequencing in Monogenic Forms of Rickets.
Jacob P et al.
Indian Journal of Pediatrics, 2023
Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations.
Xu N et al.
Journal of Medical Genetics, 2023
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 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
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.
Hsieh A et al.
Genome Medicine, 2020
A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets.
Yang M et al.
Annals of Pediatric Endocrinology & Metabolism, 2018
[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
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 and DMP1 in a cohort of patients with hypophosphatemic rickets.
Ruppe MD et al.
Clinical Endocrinology, 2011
A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets.
Kim J et al.
Annals of Clinical and Laboratory Science, 2009
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.
Ichikawa S et al.
Bone, 2008
PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets.
Song HR et al.
Journal of Korean Medical Science, 2007
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
Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.
Tyynismaa H et al.
Human Mutation, 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
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