BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

267 related articles for article (PubMed ID: 29914564)

  • 1. Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency.
    Chen B; Li L; Wang J; Li T; Pan H; Liu B; Zhou Y; Cao Y; Wang B
    J Ovarian Res; 2018 Jun; 11(1):48. PubMed ID: 29914564
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Bi-allelic recessive loss-of-function mutations in FIGLA cause premature ovarian insufficiency with short stature.
    Yuan P; He Z; Sun S; Li Y; Wang W; Liang X; Xie X; Jiang Y; Yang D
    Clin Genet; 2019 Mar; 95(3):409-414. PubMed ID: 30474133
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Consanguineous Chinese Familial Study Reveals that a Gross Deletion that Includes the SYCE1 Gene Region Is Associated with Premature Ovarian Insufficiency.
    Zhe J; Ye D; Chen X; Liu Y; Zhou X; Li Y; Zhang J; Chen S
    Reprod Sci; 2020 Feb; 27(2):461-467. PubMed ID: 31925770
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency.
    de Vries L; Behar DM; Smirin-Yosef P; Lagovsky I; Tzur S; Basel-Vanagaite L
    J Clin Endocrinol Metab; 2014 Oct; 99(10):E2129-32. PubMed ID: 25062452
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency.
    Zhe J; Chen S; Chen X; Liu Y; Li Y; Zhou X; Zhang J
    J Ovarian Res; 2019 Jul; 12(1):61. PubMed ID: 31279343
    [TBL] [Abstract][Full Text] [Related]  

  • 6. New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family.
    Bouali N; Francou B; Bouligand J; Imanci D; Dimassi S; Tosca L; Zaouali M; Mougou S; Young J; Saad A; Guiochon-Mantel A
    Fertil Steril; 2017 Oct; 108(4):694-702. PubMed ID: 28863940
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree.
    Alavi A; Darki F; Bidgoli MMR; Zare-Abdollahi D; Moini A; Shahshahani MM; Fischer J; Elahi E
    Mol Genet Genomics; 2020 Jul; 295(4):1039-1053. PubMed ID: 32253496
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing.
    Zhao M; Feng F; Chu C; Yue W; Li L
    J Ovarian Res; 2019 Dec; 12(1):119. PubMed ID: 31810472
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency.
    Peng T; Lv C; Tan H; Huang J; He H; Wang Y; Zeng M; Yi D; Li J; Deng H; Shi X; Xiao H
    J Assist Reprod Genet; 2020 Feb; 37(2):443-450. PubMed ID: 31902100
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14.
    He WB; Tu CF; Liu Q; Meng LL; Yuan SM; Luo AX; He FS; Shen J; Li W; Du J; Zhong CG; Lu GX; Lin G; Fan LQ; Tan YQ
    J Med Genet; 2018 Mar; 55(3):198-204. PubMed ID: 29331980
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency.
    Fauchereau F; Shalev S; Chervinsky E; Beck-Fruchter R; Legois B; Fellous M; Caburet S; Veitia RA
    Clin Genet; 2016 May; 89(5):603-7. PubMed ID: 26771056
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.
    Al-Agha AE; Ahmed IA; Nuebel E; Moriwaki M; Moore B; Peacock KA; Mosbruger T; Neklason DW; Jorde LB; Yandell M; Welt CK
    J Clin Endocrinol Metab; 2018 Feb; 103(2):555-563. PubMed ID: 29240891
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.