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Journal Abstract Search

313 related items for PubMed ID: 21553362

  • 1.
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  • 2. A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets.
    Kim J, Yang KH, Nam JS, Choi JR, Song J, Chang M, Lee KA.
    Ann Clin Lab Sci; 2009; 39(2):182-7. PubMed ID: 19429806
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  • 3. Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets.
    Xia W, Meng X, Jiang Y, Li M, Xing X, Pang L, Wang O, Pei Y, Yu LY, Sun Y, Hu Y, Zhou X.
    Calcif Tissue Int; 2007 Dec; 81(6):415-20. PubMed ID: 18046499
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  • 4. A novel Phex mutation in a new mouse model of hypophosphatemic rickets.
    Owen C, Chen F, Flenniken AM, Osborne LR, Ichikawa S, Adamson SL, Rossant J, Aubin JE.
    J Cell Biochem; 2012 Jul; 113(7):2432-41. PubMed ID: 22573557
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  • 5. Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.
    Clausmeyer S, Hesse V, Clemens PC, Engelbach M, Kreuzer M, Becker-Rose P, Spital H, Schulze E, Raue F.
    Calcif Tissue Int; 2009 Sep; 85(3):211-20. PubMed ID: 19513579
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  • 7. Novel and de novo PHEX mutations in patients with hypophosphatemic rickets.
    Durmaz E, Zou M, Al-Rijjal RA, Baitei EY, Hammami S, Bircan I, Akçurin S, Meyer B, Shi Y.
    Bone; 2013 Jan; 52(1):286-91. PubMed ID: 23079138
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  • 8. A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice.
    Xiong X, Qi X, Ge X, Gu P, Zhao J, Zhao Q, Gao X.
    J Biomed Sci; 2008 Jan; 15(1):47-59. PubMed ID: 17710565
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  • 10. A clinical and molecular genetic study of hypophosphatemic rickets in children.
    Cho HY, Lee BH, Kang JH, Ha IS, Cheong HI, Choi Y.
    Pediatr Res; 2005 Aug; 58(2):329-33. PubMed ID: 16055933
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  • 11. A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene.
    Saito T, Shimizu Y, Hori M, Taguchi M, Igarashi T, Fukumoto S, Fujitab T.
    Bone; 2011 Oct; 49(4):913-6. PubMed ID: 21745613
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  • 12. X-linked hypophosphatemic rickets and craniosynostosis.
    Murthy AS.
    J Craniofac Surg; 2009 Mar; 20(2):439-42. PubMed ID: 19242361
    [Abstract] [Full Text] [Related]

  • 13. Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.
    Sato K, Tajima T, Nakae J, Adachi M, Asakura Y, Tachibana K, Suwa S, Katsumata N, Tanaka T, Hayashi Y, Abe S, Murashita M, Okuhara K, Shinohara N, Fujieda K.
    Pediatr Res; 2000 Oct; 48(4):536-40. PubMed ID: 11004247
    [Abstract] [Full Text] [Related]

  • 14. 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 Oct; 116(3):p17-21. PubMed ID: 20664300
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  • 19.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Laurent MR, Harvengt P, Mortier GR, Böckenhauer D.
    ; 1993 Oct. PubMed ID: 22319799
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  • 20. Presence of a deletion mutation (c.716delA) in the ligand binding domain of the vitamin D receptor in an Indian patient with vitamin D-dependent rickets type II.
    Kanakamani J, Tomar N, Kaushal E, Tandon N, Goswami R.
    Calcif Tissue Int; 2010 Jan; 86(1):33-41. PubMed ID: 19921089
    [Abstract] [Full Text] [Related]

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