BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

207 related articles for article (PubMed ID: 38528613)

  • 21. A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.
    Carlosama C; Elzaiat M; PatiƱo LC; Mateus HE; Veitia RA; Laissue P
    Hum Mol Genet; 2017 Aug; 26(16):3161-3166. PubMed ID: 28541421
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype-phenotype correlations.
    Wang Q; Li D; Cai B; Chen Q; Li C; Wu Y; Jin L; Wang X; Zhang X; Zhang F
    Hum Genet; 2019 Jan; 138(1):83-92. PubMed ID: 30603774
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Whole exome sequencing identified a rare WT1 loss-of-function variant in a non-syndromic POI patient.
    Wang Y; Chen Q; Zhang F; Yang X; Shang L; Ren S; Pan Y; Zhou Z; Li G; Fang Y; Jin L; Wu Y; Zhang X
    Mol Genet Genomic Med; 2022 Jan; 10(1):e1820. PubMed ID: 34845858
    [TBL] [Abstract][Full Text] [Related]  

  • 24. TP63 gain-of-function mutations cause premature ovarian insufficiency by inducing oocyte apoptosis.
    Huang C; Zhao S; Yang Y; Guo T; Ke H; Mi X; Qin Y; Chen ZJ; Zhao S
    J Clin Invest; 2023 Mar; 133(5):. PubMed ID: 36856110
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A novel missense variant in LAMC1 identified in a POI family by whole exome sequencing.
    Xu H; Wang C; Wei H; Li T; Fang Y; Wang B
    Gynecol Endocrinol; 2023 Oct; 39(1):2265507. PubMed ID: 37839437
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Primary Ovarian Insufficiency.
    Laven JS
    Semin Reprod Med; 2016 Jul; 34(4):230-4. PubMed ID: 27513024
    [TBL] [Abstract][Full Text] [Related]  

  • 27. CAV1 regulates primordial follicle formation via the Notch2 signalling pathway and is associated with premature ovarian insufficiency in humans.
    Huang K; Dang Y; Zhang P; Shen C; Sui X; Xia G; Qin Y; Jiao X; Wang C; Huo R; Chen ZJ
    Hum Reprod; 2018 Nov; 33(11):2087-2095. PubMed ID: 30304446
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Novel alanyl-tRNA synthetase 2 (AARS2) homozygous mutation in a consanguineous Chinese family with premature ovarian insufficiency.
    Zhou Y; Chen B; Li L; Pan H; Liu B; Li T; Wang R; Ma X; Wang B; Cao Y
    Fertil Steril; 2019 Sep; 112(3):569-576.e2. PubMed ID: 31280959
    [TBL] [Abstract][Full Text] [Related]  

  • 29. NOTCH2 variant D1853H is mutated in two non-syndromic premature ovarian insufficiency patients from a Chinese pedigree.
    Li L; Feng F; Zhao M; Li T; Yue W; Ma X; Wang B; Yin C
    J Ovarian Res; 2020 Apr; 13(1):41. PubMed ID: 32312275
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A kaleidoscopic view of ovarian genes associated with premature ovarian insufficiency and senescence.
    Yang Q; Mumusoglu S; Qin Y; Sun Y; Hsueh AJ
    FASEB J; 2021 Aug; 35(8):e21753. PubMed ID: 34233068
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention.
    Liu H; Wei X; Sha Y; Liu W; Gao H; Lin J; Li Y; Tang Y; Wang Y; Wang Y; Su Z
    J Ovarian Res; 2020 Sep; 13(1):114. PubMed ID: 32962729
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.
    Ferrari I; Bouilly J; Beau I; Guizzardi F; Ferlin A; Pollazzon M; Salerno M; Binart N; Persani L; Rossetti R
    Hum Mol Genet; 2016 Dec; 25(23):5223-5233. PubMed ID: 27798098
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency.
    Kasippillai T; MacArthur DG; Kirby A; Thomas B; Lambalk CB; Daly MJ; Welt CK
    J Clin Endocrinol Metab; 2013 Sep; 98(9):E1534-9. PubMed ID: 23902945
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families.
    Rouen A; Rogers E; Kerlan V; Delemer B; Catteau-Jonard S; Reznik Y; Gompel A; Cedrin I; Guedj AM; Grouthier V; Brue T; Pienkowski C; Bachelot A; Chantot-Bastaraud S; Rousseau A; Simon T; Kott E; Siffroi JP; Touraine P; Christin-Maitre S
    Fertil Steril; 2022 Apr; 117(4):843-853. PubMed ID: 35115167
    [TBL] [Abstract][Full Text] [Related]  

  • 35. EIF4ENIF1 variants in two patients with non-syndromic premature ovarian insufficiency.
    Shang L; Ren S; Yang X; Zhang F; Jin L; Zhang X; Wu Y
    Eur J Med Genet; 2022 Oct; 65(10):104597. PubMed ID: 36030004
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Hypermethylation-mediated downregulation of lncRNA PVT1 promotes granulosa cell apoptosis in premature ovarian insufficiency via interacting with Foxo3a.
    Wang F; Chen X; Sun B; Ma Y; Niu W; Zhai J; Sun Y
    J Cell Physiol; 2021 Jul; 236(7):5162-5175. PubMed ID: 33393111
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Pathogenic variants in TSC2 might cause premature ovarian insufficiency through activated mTOR induced hyperactivation of primordial follicles.
    Xu B; Li Z; Li S; Ke H; Zhang Q; Qin Y; Guo T
    Fertil Steril; 2022 Dec; 118(6):1139-1149. PubMed ID: 36229297
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Whole-exome sequencing identifies a homozygous donor splice-site mutation in STAG3 that causes primary ovarian insufficiency.
    He WB; Banerjee S; Meng LL; Du J; Gong F; Huang H; Zhang XX; Wang YY; Lu GX; Lin G; Tan YQ
    Clin Genet; 2018 Feb; 93(2):340-344. PubMed ID: 28393351
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Rare deleterious BUB1B variants induce premature ovarian insufficiency and early menopause.
    Chen Q; Ke H; Luo X; Wang L; Wu Y; Tang S; Li J; Jin L; Zhang F; Qin Y; Chen X
    Hum Mol Genet; 2020 Sep; 29(16):2698-2707. PubMed ID: 32716490
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.
    Luo W; Ke H; Tang S; Jiao X; Li Z; Zhao S; Zhang F; Guo T; Qin Y
    J Ovarian Res; 2023 Feb; 16(1):39. PubMed ID: 36793102
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.