BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

290 related articles for article (PubMed ID: 19219621)

  • 1. PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.
    Gaucher C; Walrant-Debray O; Nguyen TM; Esterle L; Garabédian M; Jehan F
    Hum Genet; 2009 May; 125(4):401-11. PubMed ID: 19219621
    [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. 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]  

  • 4. Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.
    Ruppe MD; Brosnan PG; Au KS; Tran PX; Dominguez BW; Northrup H
    Clin Endocrinol (Oxf); 2011 Mar; 74(3):312-8. PubMed ID: 21050253
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.
    Li SS; Gu JM; Yu WJ; He JW; Fu WZ; Zhang ZL
    Int J Mol Med; 2016 Dec; 38(6):1703-1714. PubMed ID: 27840894
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Mutational analysis of patients with FGF23-related hypophosphatemic rickets.
    Kinoshita Y; Saito T; Shimizu Y; Hori M; Taguchi M; Igarashi T; Fukumoto S; Fujita T
    Eur J Endocrinol; 2012 Aug; 167(2):165-72. PubMed ID: 22577109
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; Castro-Feijóo L; Barreiro J; Cabanas P; Pombo M; Gil M; Bernabeu I; Díaz-Grande JM; Rey-Cordo L; Ariceta G; Rica I; Nieto J; Vilalta R; Martorell L; Vila-Cots J; Aleixandre F; Fontalba A; Soriano-Guillén L; García-Sagredo JM; García-Miñaur S; Rodríguez B; Juaristi S; García-Pardos C; Martínez-Peinado A; Millán JM; Medeira A; Moldovan O; Fernandez A; Loidi L
    BMC Med Genet; 2011 Sep; 12():116. PubMed ID: 21902834
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X-linked hypophosphatemic rickets in a Chinese family.
    Li B; Wang X; Hao X; Liu Y; Wang Y; Shan C; Ao X; Liu Y; Bao H; Li P
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1262. PubMed ID: 32511895
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.
    Beck-Nielsen SS; Brixen K; Gram J; Brusgaard K
    J Hum Genet; 2012 Jul; 57(7):453-8. PubMed ID: 22695891
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.
    Huang Y; Mei L; Pan Q; Tan H; Quan Y; Gui B; Chang J; Ma R; Peng Y; Yang P; Liang D; Wu L
    Gene; 2015 Jul; 565(1):150-4. PubMed ID: 25839938
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets.
    Kang QL; Xu J; Zhang Z; He JW; Lu LS; Fu WZ; Zhang ZL
    Biochem Biophys Res Commun; 2012 Jul; 423(4):793-8. PubMed ID: 22713460
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Familial hypophosphatemic rickets caused by a large deletion in PHEX gene.
    Saito T; Nishii Y; Yasuda T; Ito N; Suzuki H; Igarashi T; Fukumoto S; Fujita T
    Eur J Endocrinol; 2009 Oct; 161(4):647-51. PubMed ID: 19581284
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.
    Yue H; Yu JB; He JW; Zhang Z; Fu WZ; Zhang H; Wang C; Hu WW; Gu JM; Hu YQ; Li M; Liu YJ; Zhang ZL
    PLoS One; 2014; 9(5):e97830. PubMed ID: 24836714
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets.
    Yang L; Yang J; Huang X
    J Pediatr Endocrinol Metab; 2013; 26(11-12):1179-83. PubMed ID: 23813354
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 15.