238 related articles for article (PubMed ID: 28541421)
1. A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.
Carlosama C; Elzaiat M; Patiño LC; Mateus HE; Veitia RA; Laissue P
Hum Mol Genet; 2017 Aug; 26(16):3161-3166. PubMed ID: 28541421
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6.
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]
7. Homozygous Variant in KASH5 Causes Premature Ovarian Insufficiency by Disordered Meiotic Homologous Pairing.
Zhang Q; Tao C; Gao S; Li S; Xu B; Ke H; Wang Y; Zhang F; Qin Y; Zhang L; Guo T
J Clin Endocrinol Metab; 2022 Aug; 107(9):2589-2597. PubMed ID: 35708642
[TBL] [Abstract][Full Text] [Related]
8. Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals.
Akbari A; Padidar K; Salehi N; Mashayekhi M; Almadani N; Sadighi Gilani MA; Bashambou A; McElreavey K; Totonchi M
Hum Reprod; 2021 Mar; 36(4):1134-1145. PubMed ID: 33448284
[TBL] [Abstract][Full Text] [Related]
9. A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks.
Caburet S; Todeschini AL; Petrillo C; Martini E; Farran ND; Legois B; Livera G; Younis JS; Shalev S; Veitia RA
EBioMedicine; 2019 Apr; 42():524-531. PubMed ID: 31000419
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.
Wyrwoll MJ; van Walree ES; Hamer G; Rotte N; Motazacker MM; Meijers-Heijboer H; Alders M; Meißner A; Kaminsky E; Wöste M; Krallmann C; Kliesch S; Hunt TJ; Clark AT; Silber S; Stallmeyer B; Friedrich C; van Pelt AMM; Mathijssen IB; Tüttelmann F
Hum Reprod; 2021 Dec; 37(1):178-189. PubMed ID: 34755185
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
18. Genetic screening in patients with ovarian dysfunction.
Zeng Y; Li L; Li Q; Hu J; Zhang N; Wu L; Yan Z; Qu R; Dong J; Liu R; Choy KW; Wang L; Sang Q; Guan Y; Chen B
Clin Genet; 2023 Mar; 103(3):352-357. PubMed ID: 36373164
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
