These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 38927615)

  • 1. A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the
    Fraga G; Herreros MA; Pybus M; Aza-Carmona M; Pilco-Teran M; Furlano M; García-Borau MJ; Torra R; Ars E
    Genes (Basel); 2024 May; 15(6):. PubMed ID: 38927615
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.
    Ma SL; Vega-Warner V; Gillies C; Sampson MG; Kher V; Sethi SK; Otto EA
    PLoS One; 2015; 10(6):e0130729. PubMed ID: 26107949
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Novel Synonymous Variant of PHEX in a Patient with X-Linked Hypophosphatemia.
    Ma X; Pang Q; Zhang Q; Jiang Y; Wang O; Li M; Xing X; Xia W
    Calcif Tissue Int; 2022 Dec; 111(6):634-640. PubMed ID: 35831717
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets.
    BinEssa HA; Zou M; Al-Enezi AF; Alomrani B; Al-Faham MSA; Al-Rijjal RA; Meyer BF; Shi Y
    Bone; 2019 Aug; 125():186-193. PubMed ID: 31102713
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia.
    Alhamoudi KM; Alghamdi B; Alswailem M; Nasir A; Aljomaiah A; Al-Hindi H; Alzahrani AS
    J Clin Endocrinol Metab; 2022 Sep; 107(10):2883-2891. PubMed ID: 35896147
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
    Rush ET; Johnson B; Aradhya S; Beltran D; Bristow SL; Eisenbeis S; Guerra NE; Krolczyk S; Miller N; Morales A; Ramesan P; Sarafrazi S; Truty R; Dahir K
    J Bone Miner Res; 2022 Feb; 37(2):202-214. PubMed ID: 34633109
    [TBL] [Abstract][Full Text] [Related]  

  • 7. X-linked hypophosphatemia caused by a deep intronic variant in PHEX identified by PCR-based RNA analysis of urine-derived cells.
    Grimbly C; Ludwig K; Wu Z; Caluseriu O; Rosolowsky E; Alexander RT; Ward LM; Rauch F
    Bone; 2023 Nov; 176():116839. PubMed ID: 37454963
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Prenatal diagnosis for a novel splice mutation of PHEX gene in a large Han Chinese family affected with X-linked hypophosphatemic rickets.
    Qiu G; Liu C; Zhou J; Liu P; Wang J; Jiang H; Hou Z; Zhao Y; Sun K; Li-Ling J
    Genet Test Mol Biomarkers; 2010 Jun; 14(3):385-91. PubMed ID: 20578943
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia].
    Li J; Xu P; Huang S; Gao M; Zou Y; Kang R; Gao Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Apr; 34(2):216-219. PubMed ID: 28397222
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling.
    Ishihara Y; Ohata Y; Takeyari S; Kitaoka T; Fujiwara M; Nakano Y; Yamamoto K; Yamada C; Yamamoto K; Michigami T; Mabe H; Yamaguchi T; Matsui K; Tamada I; Namba N; Yamamoto A; Etoh J; Kawaguchi A; Kosugi R; Ozono K; Kubota T
    Bone; 2021 Dec; 153():116135. PubMed ID: 34333162
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes.
    Asano S; Sako S; Funasaki Y; Takeshita Y; Niida Y; Takamura T
    Endocr J; 2021 Sep; 68(9):1135-1141. PubMed ID: 33907069
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).
    Sarafrazi S; Daugherty SC; Miller N; Boada P; Carpenter TO; Chunn L; Dill K; Econs MJ; Eisenbeis S; Imel EA; Johnson B; Kiel MJ; Krolczyk S; Ramesan P; Truty R; Sabbagh Y
    Hum Mutat; 2022 Feb; 43(2):143-157. PubMed ID: 34806794
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.
    Ichikawa S; Traxler EA; Estwick SA; Curry LR; Johnson ML; Sorenson AH; Imel EA; Econs MJ
    Bone; 2008 Oct; 43(4):663-6. PubMed ID: 18625346
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic analysis of three families with X-linked dominant hypophosphatemic rickets.
    Lin X; Zhu Y; Luo J; Huang J
    J Pediatr Endocrinol Metab; 2018 Jul; 31(7):789-797. PubMed ID: 29858904
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hypophosphatemic rickets caused by a novel splice donor site mutation and activation of two cryptic splice donor sites in the PHEX gene.
    Zou M; Buluş D; Al-Rijjal RA; Andıran N; BinEssa H; Kattan WE; Meyer B; Shi Y
    J Pediatr Endocrinol Metab; 2015 Jan; 28(1-2):211-6. PubMed ID: 25153221
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells.
    Ichikawa S; Austin AM; Gray AK; Econs MJ
    J Bone Miner Res; 2012 Feb; 27(2):453-60. PubMed ID: 22006791
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Unusually severe hypophosphatemic rickets caused by a novel and complex re-arrangement of the PHEX gene.
    Pekkarinen T; Lorenz-Depiereux B; Lohman M; Mäkitie O
    Am J Med Genet A; 2014 Nov; 164A(11):2931-7. PubMed ID: 25124877
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel PHEX gene mutation associated with X linked hypophosphatemic rickets.
    Chandran M; Chng CL; Zhao Y; Bee YM; Phua LY; Clarke BL
    Nephron Physiol; 2010; 116(3):p17-21. PubMed ID: 20664300
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets.
    Lin Y; Zhang W; Huang X; Su L; Cai Y; Liang C; Rao M; Liu L; Zeng C
    Calcif Tissue Int; 2022 Feb; 110(2):266-271. PubMed ID: 34487203
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; Werner R; Stubbe A; Hiort O; Hoeppner W
    Eur J Endocrinol; 2020 Nov; 183(5):497-504. PubMed ID: 33107440
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.