264 related articles for article (PubMed ID: 30924587)
1. TP63-truncating variants cause isolated premature ovarian insufficiency.
Tucker EJ; Jaillard S; Grover SR; van den Bergen J; Robevska G; Bell KM; Sadedin S; Hanna C; Dulon J; Touraine P; Sinclair AH
Hum Mutat; 2019 Jul; 40(7):886-892. PubMed ID: 30924587
[TBL] [Abstract][Full Text] [Related]
2. Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.
Mathorne SW; Ravn P; Hansen D; Beck-Nielsen SS; Gjørup H; Sørensen KP; Fagerberg CR
Clin Genet; 2020 May; 97(5):779-784. PubMed ID: 32067224
[TBL] [Abstract][Full Text] [Related]
3. Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
Tucker EJ; Gutfreund N; Belaud-Rotureau MA; Gilot D; Brun T; Kline BL; Bell KM; Domin-Bernhard M; Théard C; Touraine P; Robevska G; van van den Bergen J; Ayers KL; Sinclair AH; Dötsch V; Jaillard S
Hum Mutat; 2022 Oct; 43(10):1443-1453. PubMed ID: 35801529
[TBL] [Abstract][Full Text] [Related]
4. Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency.
Vanderschelden RK; Rodriguez-Escriba M; Chan SH; Berman AJ; Rajkovic A; Yatsenko SA
J Assist Reprod Genet; 2023 Sep; 40(9):2211-2218. PubMed ID: 37453019
[TBL] [Abstract][Full Text] [Related]
5. High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function.
Bestetti I; Castronovo C; Sironi A; Caslini C; Sala C; Rossetti R; Crippa M; Ferrari I; Pistocchi A; Toniolo D; Persani L; Marozzi A; Finelli P
Hum Reprod; 2019 Mar; 34(3):574-583. PubMed ID: 30689869
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
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. 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]
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. 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]
13. 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]
14. 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]
15. 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]
16. 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]
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. Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.
Luo W; Ke H; Tang S; Jiao X; Li Z; Zhao S; Zhang F; Guo T; Qin Y
J Ovarian Res; 2023 Feb; 16(1):39. PubMed ID: 36793102
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.
Yang X; Touraine P; Desai S; Humphreys G; Jiang H; Yatsenko A; Rajkovic A
J Assist Reprod Genet; 2019 Jan; 36(1):39-45. PubMed ID: 30406445
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
