166 related articles for article (PubMed ID: 36030004)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Rare variants in FANCA induce premature ovarian insufficiency.
Yang X; Zhang X; Jiao J; Zhang F; Pan Y; Wang Q; Chen Q; Cai B; Tang S; Zhou Z; Chen S; Yin H; Fu W; Luo Y; Li D; Li G; Shang L; Yang J; Jin L; Shi Q; Wu Y
Hum Genet; 2019 Dec; 138(11-12):1227-1236. PubMed ID: 31535215
[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. Heterozygous FMN2 missense variant found in a family case of premature ovarian insufficiency.
Li J; Peng T; Wang L; Long P; Quan R; Tan H; Zeng M; Wu X; Yang J; Xiao H; Shi X
J Ovarian Res; 2022 Feb; 15(1):31. PubMed ID: 35227295
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Identification of novel biallelic variants in BMP15 in two siblings with premature ovarian insufficiency.
Zhang T; Ma Q; Shen Q; Jiang C; Zou F; Shen Y; Wang Y
J Assist Reprod Genet; 2022 Sep; 39(9):2125-2134. PubMed ID: 35861920
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Eif4enif1 haploinsufficiency disrupts oocyte mitochondrial dynamics and leads to subfertility.
Ding Y; He Z; Sha Y; Kee K; Li L
Development; 2023 Dec; 150(23):. PubMed ID: 38088064
[TBL] [Abstract][Full Text] [Related]
14. Identification of new variants and candidate genes in women with familial premature ovarian insufficiency using whole-exome sequencing.
Morales R; Lledo B; Ortiz JA; Lozano FM; Garcia EM; Bernabeu A; Fuentes A; Bernabeu R
J Assist Reprod Genet; 2022 Nov; 39(11):2595-2605. PubMed ID: 36208357
[TBL] [Abstract][Full Text] [Related]
15. New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing.
Patiño LC; Beau I; Carlosama C; Buitrago JC; González R; Suárez CF; Patarroyo MA; Delemer B; Young J; Binart N; Laissue P
Hum Reprod; 2017 Jul; 32(7):1512-1520. PubMed ID: 28505269
[TBL] [Abstract][Full Text] [Related]
16. Haploinsufficiency in non-homologous end joining factor 1 induces ovarian dysfunction in humans and mice.
Li G; Yang X; Wang L; Pan Y; Chen S; Shang L; Zhang Y; Wu Y; Zhou Z; Chen Q; Zhang X; Zhang L; Wang Y; Li J; Jin L; Wu Y; Zhang X; Zhang F
J Med Genet; 2022 Jun; 59(6):579-588. PubMed ID: 33888552
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
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]
