234 related articles for article (PubMed ID: 35115167)
1. Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families.
Rouen A; Rogers E; Kerlan V; Delemer B; Catteau-Jonard S; Reznik Y; Gompel A; Cedrin I; Guedj AM; Grouthier V; Brue T; Pienkowski C; Bachelot A; Chantot-Bastaraud S; Rousseau A; Simon T; Kott E; Siffroi JP; Touraine P; Christin-Maitre S
Fertil Steril; 2022 Apr; 117(4):843-853. PubMed ID: 35115167
[TBL] [Abstract][Full Text] [Related]
2. Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.
Turkyilmaz A; Alavanda C; Ates EA; Geckinli BB; Polat H; Gokcu M; Karakaya T; Cebi AH; Soylemez MA; Guney Aİ; Ata P; Arman A
J Assist Reprod Genet; 2022 Mar; 39(3):695-710. PubMed ID: 35066699
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.
Vogt EC; Bratland E; Berland S; Berentsen R; Lund A; Björnsdottir S; Husebye E; Øksnes M
Hum Reprod; 2024 Jan; 39(1):177-189. PubMed ID: 37953503
[TBL] [Abstract][Full Text] [Related]
6. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Jolly A; Bayram Y; Turan S; Aycan Z; Tos T; Abali ZY; Hacihamdioglu B; Coban Akdemir ZH; Hijazi H; Bas S; Atay Z; Guran T; Abali S; Bas F; Darendeliler F; Colombo R; Barakat TS; Rinne T; White JJ; Yesil G; Gezdirici A; Gulec EY; Karaca E; Pehlivan D; Jhangiani SN; Muzny DM; Poyrazoglu S; Bereket A; Gibbs RA; Posey JE; Lupski JR
J Clin Endocrinol Metab; 2019 Aug; 104(8):3049-3067. PubMed ID: 31042289
[TBL] [Abstract][Full Text] [Related]
7. Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.
Gorsi B; Hernandez E; Moore MB; Moriwaki M; Chow CY; Coelho E; Taylor E; Lu C; Walker A; Touraine P; Nelson LM; Cooper AR; Mardis ER; Rajkovic A; Yandell M; Welt CK
J Clin Endocrinol Metab; 2022 Feb; 107(3):685-714. PubMed ID: 34718612
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Homozygous missense variant in MEIOSIN causes premature ovarian insufficiency.
Zhang Q; Zhang W; Wu X; Ke H; Qin Y; Zhao S; Guo T
Hum Reprod; 2023 Nov; 38(Supplement_2):ii47-ii56. PubMed ID: 37982418
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Genetics of primary ovarian insufficiency: new developments and opportunities.
Qin Y; Jiao X; Simpson JL; Chen ZJ
Hum Reprod Update; 2015; 21(6):787-808. PubMed ID: 26243799
[TBL] [Abstract][Full Text] [Related]
13. Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.
Shen J; Qu D; Gao Y; Sun F; Xie J; Sun X; Wang D; Ma X; Cui Y; Liu J; Diao F
J Assist Reprod Genet; 2021 Apr; 38(4):965-978. PubMed ID: 33538981
[TBL] [Abstract][Full Text] [Related]
14. Molecular Genetics of Premature Ovarian Insufficiency.
Jiao X; Ke H; Qin Y; Chen ZJ
Trends Endocrinol Metab; 2018 Nov; 29(11):795-807. PubMed ID: 30078697
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency.
Sakka R; Abdelhedi F; Sellami H; Pichon B; Lajmi Y; Mnif M; Kebaili S; Derbel R; Kamoun H; Gdoura R; Delbaere A; Desir J; Abramowicz M; Vialard F; Dupont JM; Ammar-Keskes L
Eur J Med Genet; 2022 Nov; 65(11):104613. PubMed ID: 36113757
[TBL] [Abstract][Full Text] [Related]
18. New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing.
Jaillard S; Bell K; Akloul L; Walton K; McElreavy K; Stocker WA; Beaumont M; Harrisson C; Jääskeläinen T; Palvimo JJ; Robevska G; Launay E; Satié AP; Listyasari N; Bendavid C; Sreenivasan R; Duros S; van den Bergen J; Henry C; Domin-Bernhard M; Cornevin L; Dejucq-Rainsford N; Belaud-Rotureau MA; Odent S; Ayers KL; Ravel C; Tucker EJ; Sinclair AH
Maturitas; 2020 Nov; 141():9-19. PubMed ID: 33036707
[TBL] [Abstract][Full Text] [Related]
19. Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.
Yatsenko SA; Gurbuz F; Topaloglu AK; Berman AJ; Martin PM; Rodrigue-Escribà M; Qin Y; Rajkovic A
J Clin Endocrinol Metab; 2022 May; 107(6):e2359-e2364. PubMed ID: 35218660
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
