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 *

154 related articles for article (PubMed ID: 22563645)

  • 41. A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.
    Zhao R; Dai E; Wang S; Zhang X; He Y; Peng L; Zhao P; Yang Z; Yang M; Li S
    Clin Genet; 2023 Mar; 103(3):320-329. PubMed ID: 36453149
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Identification of LRP5 mutations in families with familial exudative vitreoretinopathy.
    Liu YQ; Zhu X; Li SJ; Yang YM; Yang M; Zhao PQ; Zhu XJ
    Yi Chuan; 2017 Mar; 39(3):241-249. PubMed ID: 28420620
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.
    Sun W; Xiao X; Li S; Jia X; Wang P; Zhang Q
    Invest Ophthalmol Vis Sci; 2019 Jan; 60(1):93-97. PubMed ID: 30640974
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Ocular manifestations of Chinese patients with copy number variants in the
    Huang L; Zhang L; Li X; Lu J; Sun L; Chen L; Ding X; Li Z
    Mol Vis; 2022; 28():29-38. PubMed ID: 35656167
    [TBL] [Abstract][Full Text] [Related]  

  • 45. [Genetic analysis and prenatal diagnosis for a pedigree affected with X-linked Norrie disease].
    Yang X; Li W; Shen X; Shao H; Shen G
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 May; 36(5):462-464. PubMed ID: 31030433
    [TBL] [Abstract][Full Text] [Related]  

  • 46. A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.
    Jia B; Huang L; Chen Y; Liu S; Chen C; Xiong K; Song L; Zhou Y; Yang X; Zhong M
    J Genet; 2017 Dec; 96(6):1015-1020. PubMed ID: 29321361
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.
    Tao T; Xu N; Li J; Li H; Qu J; Yin H; Liang J; Zhao M; Li X; Huang L
    Invest Ophthalmol Vis Sci; 2021 Dec; 62(15):4. PubMed ID: 34860240
    [TBL] [Abstract][Full Text] [Related]  

  • 48. A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy.
    Chamney S; McLoone E; Willoughby CE
    Eye (Lond); 2011 Dec; 25(12):1658. PubMed ID: 21960066
    [No Abstract]   [Full Text] [Related]  

  • 49. Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.
    Fei P; Zhang Q; Huang L; Xu Y; Zhu X; Tai Z; Gong B; Ma S; Yao Q; Li J; Zhao P; Yang Z
    Mol Vis; 2014; 20():395-409. PubMed ID: 24715757
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Identification of Novel Mutations in the
    Zhu X; Sun K; Huang L; Ma S; Hao F; Yang Z; Sundaresan P; Zhu X
    Genet Test Mol Biomarkers; 2020 Feb; 24(2):92-98. PubMed ID: 31999491
    [No Abstract]   [Full Text] [Related]  

  • 51. A Novel Mutation in the
    Bao Y; Yang J; Chen L; Chen M; Zhao P; Qiu S; Zhang L; Zhang G
    Genet Test Mol Biomarkers; 2019 Dec; 23(12):850-856. PubMed ID: 31821093
    [No Abstract]   [Full Text] [Related]  

  • 52. Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy.
    Zhang L; Yang Y; Li S; Tai Z; Huang L; Liu Y; Zhu X; Di Y; Qu C; Jiang Z; Li Y; Zhang G; Kim R; Sundaresan P; Yang Z; Zhu X
    Genet Test Mol Biomarkers; 2016 Jul; 20(7):346-51. PubMed ID: 27228167
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Epilepsy phenotypes in siblings with Norrie disease.
    Okumura A; Arai E; Kitamura Y; Abe S; Ikeno M; Fujimaki T; Yamamoto T; Shimizu T
    Brain Dev; 2015 Nov; 37(10):978-82. PubMed ID: 25944760
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy.
    Kondo H; Kusaka S; Yoshinaga A; Uchio E; Tawara A; Hayashi K; Tahira T
    Am J Ophthalmol; 2011 Jun; 151(6):1095-1100.e1. PubMed ID: 21334594
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.
    Marakhonov AV; Mishina IA; Kadyshev VV; Repina SA; Shurygina MF; Shchagina OA; Vasserman NN; Vasilyeva TA; Kutsev SI; Zinchenko RA
    BMC Med Genet; 2020 Oct; 21(Suppl 1):156. PubMed ID: 33092543
    [TBL] [Abstract][Full Text] [Related]  

  • 56. NDP-related retinopathies: clinical phenotype of female carriers.
    Huang L; Sun L; Li X; Li S; Zhang T; Zhang Z; Ding X
    Br J Ophthalmol; 2023 Aug; 107(8):1151-1155. PubMed ID: 35361573
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.
    Staropoli JF; Xin W; Sims KB
    J Med Genet; 2010 Nov; 47(11):786-90. PubMed ID: 20679667
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients.
    Musada GR; Syed H; Jalali S; Chakrabarti S; Kaur I
    BMC Ophthalmol; 2016 Jun; 16():90. PubMed ID: 27316669
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Hedgehog regulates Norrie disease protein to drive neural progenitor self-renewal.
    McNeill B; Mazerolle C; Bassett EA; Mears AJ; Ringuette R; Lagali P; Picketts DJ; Paes K; Rice D; Wallace VA
    Hum Mol Genet; 2013 Mar; 22(5):1005-16. PubMed ID: 23201751
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Role of
    Han S; Sun J; Yang L; Qi M
    Biomed Res Int; 2020; 2020():7681926. PubMed ID: 32420371
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.