Associated Papers
Clinical and Laboratory Characteristics of Patients with Genetic Rickets: A Single-Center Experience with Long-Term Outcomes.
Köprülü Ö et al.
Turkish Archives of Pediatrics, 2025
Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.
Huang Y et al.
Scientific Reports, 2025
A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy.
Lim WT et al.
Calcified Tissue International, 2025
Use of burosumab in two young children with X-linked hypophosphataemic rickets in Hong Kong: two case reports.
Tung JYL et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2024
Use of Whole-Exome Sequencing and Pedigree Analysis to Identify X-linked Hypophosphatemia in Saudi Arabian Families.
Al-Hamed MH et al.
Journal of the Endocrine Society, 2024
The current understanding of germline predisposition in non-syndromic sagittal craniosynostosis: a systematic review.
Bille A et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2023
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
Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets.
Lin Y et al.
Calcified Tissue International, 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 Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia.
Lin X et al.
Frontiers in Cell and Developmental Biology, 2021
Novel variants and uncommon cases among southern Chinese children with X-linked hypophosphatemia.
Lin Y et al.
Journal of Endocrinological Investigation, 2020
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
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
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.
Zhang H et al.
Journal of Human Genetics, 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
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
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
Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.
Sato K et al.
Pediatric Research, 2000
PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.
Sabbagh Y et al.
Human Mutation, 2000
Mutational analysis of PHEX gene in X-linked hypophosphatemia.
Dixon PH et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
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