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 *

364 related articles for article (PubMed ID: 30682568)

  • 21. Identification of a p.Trp403* nonsense variant in PHEX causing X-linked hypophosphatemia by inhibiting p38 MAPK signaling.
    Li W; Tan L; Li X; Zhang X; Wu X; Chen H; Hu L; Wang X; Luo X; Wang F; Xu C; Chen Q; Jin R; Wang QK
    Hum Mutat; 2019 Jul; 40(7):879-885. PubMed ID: 30920082
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. 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]  

  • 25. 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]  

  • 26. 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]  

  • 27. 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]  

  • 28. 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]  

  • 29. [Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases].
    Ran Q; Xiong F; Zhu M; Deng LL; Lei PY; Luo YH; Zeng Y; Zhu GH; Song C
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 May; 19(5):534-538. PubMed ID: 28506344
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.
    Chesher D; Oddy M; Darbar U; Sayal P; Casey A; Ryan A; Sechi A; Simister C; Waters A; Wedatilake Y; Lachmann RH; Murphy E
    J Inherit Metab Dis; 2018 Sep; 41(5):865-876. PubMed ID: 29460029
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures.
    Coyac BR; Hoac B; Chafey P; Falgayrac G; Slimani L; Rowe PS; Penel G; Linglart A; McKee MD; Chaussain C; Bardet C
    J Dent Res; 2018 Feb; 97(2):184-191. PubMed ID: 28880715
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia.
    Xu T; Tao X; Zhang Z; Yue H
    Front Endocrinol (Lausanne); 2022; 13():956646. PubMed ID: 36060934
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.
    Rodríguez-Rubio E; Gil-Peña H; Chocron S; Madariaga L; de la Cerda-Ojeda F; Fernández-Fernández M; de Lucas-Collantes C; Gil M; Luis-Yanes MI; Vergara I; González-Rodríguez JD; Ferrando S; Antón-Gamero M; Carrasco Hidalgo-Barquero M; Fernández-Escribano A; Fernández-Maseda MÁ; Espinosa L; Oliet A; Vicente A; Ariceta G; Santos F;
    Orphanet J Rare Dis; 2021 Feb; 16(1):104. PubMed ID: 33639975
    [TBL] [Abstract][Full Text] [Related]  

  • 34. CRISPR/Cas9-mediated mutation of PHEX in rabbit recapitulates human X-linked hypophosphatemia (XLH).
    Sui T; Yuan L; Liu H; Chen M; Deng J; Wang Y; Li Z; Lai L
    Hum Mol Genet; 2016 Jul; 25(13):2661-2671. PubMed ID: 27126636
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: Two case reports.
    Gao Y; Wang ZM; Li XL
    Medicine (Baltimore); 2018 Aug; 97(31):e11453. PubMed ID: 30075510
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets.
    Capelli S; Donghi V; Maruca K; Vezzoli G; Corbetta S; Brandi ML; Mora S; Weber G
    Bone; 2015 Oct; 79():143-9. PubMed ID: 26051471
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation.
    Zheng B; Wang C; Chen Q; Che R; Sha Y; Zhao F; Ding G; Zhou W; Jia Z; Huang S; Chen Y; Zhang A
    J Bone Miner Res; 2020 Sep; 35(9):1718-1725. PubMed ID: 32329911
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 19.