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 *

277 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. [Homozygous Variant of
    Wen X; Chai M; Zhang Q; Zou H; Zhang Z; Cao Y; Chen B
    Sichuan Da Xue Xue Bao Yi Xue Ban; 2024 May; 55(3):559-565. PubMed ID: 38948269
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15.
    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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.