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 *

113 related articles for article (PubMed ID: 34966409)

  • 1. Identification and Functional Characterization of a Novel Nonsense Variant in
    Yuan D; Yan T; Luo S; Huang J; Tan J; Zhang J; Zhang VW; Lan Y; Hu T; Guo J; Huang M; Zeng D
    Front Genet; 2021; 12():765503. PubMed ID: 34966409
    [No Abstract]   [Full Text] [Related]  

  • 2. Identification of a Novel Frameshift Variant of
    Xiao X; Yang J; Li Y; Yang H; Zhu Y; Li L; Zhou Q; Lu D; Chen T; Tian Y
    J Clin Med; 2023 Jan; 12(3):. PubMed ID: 36769483
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene.
    van Mazijk R; Haarman AEG; Hoefsloot LH; Polling JR; van Tienhoven M; Klaver CCW; Verhoeven VJM; Loudon SE; Thiadens AAHJ; Kievit AJA
    Hum Mutat; 2022 Mar; 43(3):380-388. PubMed ID: 35001458
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Novel Splicing Variants in the ARR3 Gene Cause the Female-Limited Early-Onset High Myopia.
    Niu J; Zhu W; Jin X; Teng X; Zhang J
    Invest Ophthalmol Vis Sci; 2024 Mar; 65(3):32. PubMed ID: 38517428
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The causal mutation in ARR3 gene for high myopia and progressive color vision defect.
    Gu L; Cong P; Ning Q; Jiang B; Wang J; Cui H
    Sci Rep; 2023 Jun; 13(1):8986. PubMed ID: 37268727
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family.
    Széll N; Fehér T; Maróti Z; Kalmár T; Latinovics D; Nagy I; Orosz ZZ; Janáky M; Facskó A; Sohajda Z
    Orphanet J Rare Dis; 2021 Jan; 16(1):45. PubMed ID: 33482870
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China.
    Ye M; Ma Y; Qin YX; Cai B; Ma LM; Ma Z; Liu Y; Jin ZB; Zhuang WJ
    Mol Genet Genomics; 2023 May; 298(3):669-682. PubMed ID: 36964802
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing.
    Zhang JY; Chen SC; Chen YY; Li SY; Zhang LL; Shen YH; Chang CX; Xiang YQ; Huang HF; Xu CM
    PLoS One; 2017; 12(2):e0172173. PubMed ID: 28231257
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pathogenic variant in the X-linked ARR3 gene associated with variable early-onset myopia.
    Ediae GU; Chisholm C; Lemire G; Campbell F; Boycott KM
    Am J Med Genet A; 2024 Feb; 194(2):397-399. PubMed ID: 37795829
    [No Abstract]   [Full Text] [Related]  

  • 13. A novel deep intronic COL2A1 mutation in a family with early-onset high myopia/ocular-only Stickler syndrome.
    Sun W; Xiao X; Li S; Jia X; Zhang Q
    Ophthalmic Physiol Opt; 2020 May; 40(3):281-288. PubMed ID: 32196734
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.
    Napolitano F; Di Iorio V; Testa F; Tirozzi A; Reccia MG; Lombardi L; Farina O; Simonelli F; Gianfrancesco F; Di Iorio G; Melone MAB; Esposito T; Sampaolo S
    Clin Genet; 2018 May; 93(5):982-991. PubMed ID: 29364500
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene.
    Li HP; Yuan SQ; Wang XG; Sheng XL; Li XR
    Int J Ophthalmol; 2020; 13(8):1306-1311. PubMed ID: 32821686
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans.
    Bai J; Qu Y; Cao Y; Yang L; Ge L; Jin Y; Wang H; Song F
    Gene; 2018 Feb; 644():49-55. PubMed ID: 29080838
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome.
    Zarraga IG; Zhang L; Stump MR; Gong Q; Vincent GM; Zhou Z
    Heart Rhythm; 2011 Aug; 8(8):1200-6. PubMed ID: 21419236
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
    Sanchez Tocino H; Diez Montero C; Villanueva Gómez A; Lobo Valentin R; Montero-Moreno JA
    Ophthalmic Genet; 2019 Apr; 40(2):170-176. PubMed ID: 31033374
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel mutation in MERTK for rod-cone dystrophy in a North Indian family.
    Bhatia S; Kaur N; Singh IR; Vanita V
    Can J Ophthalmol; 2019 Feb; 54(1):40-50. PubMed ID: 30851773
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.