BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

126 related articles for article (PubMed ID: 38521400)

  • 1. Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis.
    Bakhshalizadeh S; Afkhami F; Bell KM; Robevska G; van den Bergen J; Cronin S; Jaillard S; Ayers KL; Kumar P; Siebold C; Xiao Z; Tate EW; Danaei S; Farzadi L; Shahbazi S; Sinclair AH; Tucker EJ
    Mol Cell Endocrinol; 2024 Jun; 587():112212. PubMed ID: 38521400
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.
    Bramble MS; Goldstein EH; Lipson A; Ngun T; Eskin A; Gosschalk JE; Roach L; Vashist N; Barseghyan H; Lee E; Arboleda VA; Vaiman D; Yuksel Z; Fellous M; Vilain E
    Hum Reprod; 2016 Apr; 31(4):905-14. PubMed ID: 26911863
    [TBL] [Abstract][Full Text] [Related]  

  • 3. New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing.
    Jaillard S; Bell K; Akloul L; Walton K; McElreavy K; Stocker WA; Beaumont M; Harrisson C; Jääskeläinen T; Palvimo JJ; Robevska G; Launay E; Satié AP; Listyasari N; Bendavid C; Sreenivasan R; Duros S; van den Bergen J; Henry C; Domin-Bernhard M; Cornevin L; Dejucq-Rainsford N; Belaud-Rotureau MA; Odent S; Ayers KL; Ravel C; Tucker EJ; Sinclair AH
    Maturitas; 2020 Nov; 141():9-19. PubMed ID: 33036707
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.
    Bestetti I; Barbieri C; Sironi A; Specchia V; Yatsenko SA; De Donno MD; Caslini C; Gentilini D; Crippa M; Larizza L; Marozzi A; Rajkovic A; Toniolo D; Bozzetti MP; Finelli P
    Hum Reprod; 2021 Oct; 36(11):2975-2991. PubMed ID: 34480478
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency.
    Sirchia F; Giorgio E; Cucinella L; Valente EM; Nappi RE
    J Assist Reprod Genet; 2022 May; 39(5):1177-1181. PubMed ID: 35352317
    [TBL] [Abstract][Full Text] [Related]  

  • 6. AMH mutations with reduced in vitro bioactivity are related to premature ovarian insufficiency.
    Alvaro Mercadal B; Imbert R; Demeestere I; Gervy C; De Leener A; Englert Y; Costagliola S; Delbaere A
    Hum Reprod; 2015 May; 30(5):1196-202. PubMed ID: 25750103
    [TBL] [Abstract][Full Text] [Related]  

  • 7. STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
    Jaillard S; McElreavy K; Robevska G; Akloul L; Ghieh F; Sreenivasan R; Beaumont M; Bashamboo A; Bignon-Topalovic J; Neyroud AS; Bell K; Veron-Gastard E; Launay E; van den Bergen J; Nouyou B; Vialard F; Belaud-Rotureau MA; Ayers KL; Odent S; Ravel C; Tucker EJ; Sinclair AH
    Mol Hum Reprod; 2020 Sep; 26(9):665-677. PubMed ID: 32634216
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Sequence variants of KHDRBS1 as high penetrance susceptibility risks for primary ovarian insufficiency by mis-regulating mRNA alternative splicing.
    Wang B; Li L; Zhu Y; Zhang W; Wang X; Chen B; Li T; Pan H; Wang J; Kee K; Cao Y
    Hum Reprod; 2017 Oct; 32(10):2138-2146. PubMed ID: 28938739
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Novel STAG3 variant associated with primary ovarian insufficiency and non-obstructive azoospermia in an Iranian consanguineous family.
    Akbari A; Zoha Tabatabaei S; Salehi N; Padidar K; Almadani N; Ali Sadighi Gilani M; Mashayekhi M; Motevaseli E; Totonchi M
    Gene; 2022 May; 821():146281. PubMed ID: 35176428
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel homozygote nonsense variant of MSH4 leads to primary ovarian insufficiency and non-obstructive azoospermia.
    Hashemi Sheikhshabani S; Ghafouri-Fard S; Hosseini E; Omrani MD
    Mol Biol Rep; 2024 Jan; 51(1):68. PubMed ID: 38175272
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.
    Fan S; Jiao Y; Khan R; Jiang X; Javed AR; Ali A; Zhang H; Zhou J; Naeem M; Murtaza G; Li Y; Yang G; Zaman Q; Zubair M; Guan H; Zhang X; Ma H; Jiang H; Ali H; Dil S; Shah W; Ahmad N; Zhang Y; Shi Q
    Am J Hum Genet; 2021 Feb; 108(2):324-336. PubMed ID: 33508233
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women.
    Almatrafi AM; Hibshi AM; Basit S
    Biomedicines; 2024 Apr; 12(4):. PubMed ID: 38672141
    [TBL] [Abstract][Full Text] [Related]  

  • 14. STAG3 truncating variant as the cause of primary ovarian insufficiency.
    Le Quesne Stabej P; Williams HJ; James C; Tekman M; Stanescu HC; Kleta R; Ocaka L; Lescai F; Storr HL; Bitner-Glindzicz M; Bacchelli C; Conway GS;
    Eur J Hum Genet; 2016 Jan; 24(1):135-8. PubMed ID: 26059840
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prevalence of X-aneuploidies, X-structural abnormalities and 46,XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency.
    Geckinli BB; Toksoy G; Sayar C; Soylemez MA; Yesil G; Aydın H; Karaman A; Devranoglu B
    Eur J Obstet Gynecol Reprod Biol; 2014 Nov; 182():211-5. PubMed ID: 25445102
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Homozygous missense variant in MEIOSIN causes premature ovarian insufficiency.
    Zhang Q; Zhang W; Wu X; Ke H; Qin Y; Zhao S; Guo T
    Hum Reprod; 2023 Nov; 38(Supplement_2):ii47-ii56. PubMed ID: 37982418
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Homozygous variants in
    He WB; Tan C; Zhang YX; Meng LL; Gong F; Lu GX; Lin G; Du J; Tan YQ
    J Med Genet; 2021 Mar; 58(3):168-172. PubMed ID: 32303603
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency.
    Li L; Wang B; Zhang W; Chen B; Luo M; Wang J; Wang X; Cao Y; Kee K
    Hum Reprod; 2017 Jan; 32(1):248-255. PubMed ID: 27836978
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Rare variants in GPR3 in POI patients: a case series with review of literature.
    Ren S; Zhang F; Shang L; Yang X; Pan Y; Zhang X; Wu Y
    J Ovarian Res; 2023 Nov; 16(1):210. PubMed ID: 37919810
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.