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 *

341 related articles for article (PubMed ID: 28373534)

  • 1. Trio-based exome sequencing arrests de novo mutations in early-onset high myopia.
    Jin ZB; Wu J; Huang XF; Feng CY; Cai XB; Mao JY; Xiang L; Wu KC; Xiao X; Kloss BA; Li Z; Liu Z; Huang S; Shen M; Cheng FF; Cheng XW; Zheng ZL; Chen X; Zhuang W; Zhang Q; Young TL; Xie T; Lu F; Qu J
    Proc Natl Acad Sci U S A; 2017 Apr; 114(16):4219-4224. PubMed ID: 28373534
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Trio-based whole-exome sequencing reveals mutations in early-onset high myopia.
    Ye L; Guo YM; Cai YX; Wei J; Huang J; Bi J; Chen D; Li FF; Huang XF
    BMJ Open Ophthalmol; 2024 May; 9(1):. PubMed ID: 38789272
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.
    Zi F; Li Z; Cheng W; Huang X; Sheng X; Rong W
    BMC Med Genomics; 2023 Sep; 16(1):223. PubMed ID: 37749571
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.
    Yang E; Yu J; Liu X; Chu H; Li L
    Invest Ophthalmol Vis Sci; 2023 May; 64(5):10. PubMed ID: 37191617
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing.
    Zhou L; Xiao X; Li S; Jia X; Zhang Q
    Exp Eye Res; 2018 Jun; 171():76-91. PubMed ID: 29453956
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic and clinical landscape of
    Wang Y; Xiao X; Li X; Yi Z; Jiang Y; Zhang F; Zhou L; Li S; Jia X; Sun W; Wang P; Zhang Q
    Br J Ophthalmol; 2023 Oct; 107(10):1545-1553. PubMed ID: 36180177
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
    Jiang D; Li J; Xiao X; Li S; Jia X; Sun W; Guo X; Zhang Q
    Invest Ophthalmol Vis Sci; 2014 Dec; 56(1):339-45. PubMed ID: 25525168
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.
    Jiang Y; Zhou L; Wang Y; Ouyang J; Li S; Xiao X; Jia X; Wang J; Yi Z; Sun W; Jiao X; Wang P; Hejtmancik JF; Zhang Q
    Invest Ophthalmol Vis Sci; 2023 Mar; 64(3):14. PubMed ID: 36917121
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia.
    Li J; Gao B; Xiao X; Li S; Jia X; Sun W; Guo X; Zhang Q
    Mol Vis; 2016; 22():161-7. PubMed ID: 26957899
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.
    Sun W; Huang L; Xu Y; Xiao X; Li S; Jia X; Gao B; Wang P; Guo X; Zhang Q
    Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):8365-72. PubMed ID: 26747767
    [TBL] [Abstract][Full Text] [Related]  

  • 11. X-linked heterozygous mutations in
    Xiao X; Li S; Jia X; Guo X; Zhang Q
    Mol Vis; 2016; 22():1257-1266. PubMed ID: 27829781
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Evaluation of 12 myopia-associated genes in Chinese patients with high myopia.
    Li J; Jiang D; Xiao X; Li S; Jia X; Sun W; Guo X; Zhang Q
    Invest Ophthalmol Vis Sci; 2015 Jan; 56(2):722-9. PubMed ID: 25587058
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism.
    Wang Y; Sun W; Xiao X; Jiang Y; Ouyang J; Wang J; Yi Z; Li S; Jia X; Wang P; Hejtmancik JF; Zhang Q
    Invest Ophthalmol Vis Sci; 2023 Apr; 64(4):29. PubMed ID: 37097228
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotypic characterization of patients with early-onset high myopia due to mutations in
    Zhou L; Xiao X; Li S; Jia X; Wang P; Sun W; Zhang F; Li J; Li T; Zhang Q
    Mol Vis; 2018; 24():560-573. PubMed ID: 30181686
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.
    González-Iglesias E; López-Vázquez A; Noval S; Nieves-Moreno M; Granados-Fernández M; Arruti N; Rosa-Pérez I; Pacio-Míguez M; Montaño VEF; Rodríguez-Solana P; Del Pozo A; Santos-Simarro F; Vallespín E
    Int J Mol Sci; 2022 Apr; 23(8):. PubMed ID: 35457050
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Exome Sequence Analysis of 14 Families With High Myopia.
    Kloss BA; Tompson SW; Whisenhunt KN; Quow KL; Huang SJ; Pavelec DM; Rosenberg T; Young TL
    Invest Ophthalmol Vis Sci; 2017 Apr; 58(4):1982-1990. PubMed ID: 28384719
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation screening of 17 candidate genes in a cohort of 67 probands with early-onset high myopia.
    Liu F; Wang J; Xing Y; Li T
    Ophthalmic Physiol Opt; 2020 May; 40(3):271-280. PubMed ID: 32215939
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Whole-exome analysis of a Li-Fraumeni family trio with a novel TP53 PRD mutation and anticipation profile.
    Franceschi S; Spugnesi L; Aretini P; Lessi F; Scarpitta R; Galli A; Congregati C; Caligo MA; Mazzanti CM
    Carcinogenesis; 2017 Sep; 38(9):938-943. PubMed ID: 28911001
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
    Barclay SF; Rand CM; Borch LA; Nguyen L; Gray PA; Gibson WT; Wilson RJ; Gordon PM; Aung Z; Berry-Kravis EM; Ize-Ludlow D; Weese-Mayer DE; Bech-Hansen NT
    Orphanet J Rare Dis; 2015 Aug; 10():103. PubMed ID: 26302956
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
    Rosewich H; Thiele H; Ohlenbusch A; Maschke U; Altmüller J; Frommolt P; Zirn B; Ebinger F; Siemes H; Nürnberg P; Brockmann K; Gärtner J
    Lancet Neurol; 2012 Sep; 11(9):764-73. PubMed ID: 22850527
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.