308 related articles for article (PubMed ID: 32634216)
1. STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
Jaillard S; McElreavy K; Robevska G; Akloul L; Ghieh F; Sreenivasan R; Beaumont M; Bashamboo A; Bignon-Topalovic J; Neyroud AS; Bell K; Veron-Gastard E; Launay E; van den Bergen J; Nouyou B; Vialard F; Belaud-Rotureau MA; Ayers KL; Odent S; Ravel C; Tucker EJ; Sinclair AH
Mol Hum Reprod; 2020 Sep; 26(9):665-677. PubMed ID: 32634216
[TBL] [Abstract][Full Text] [Related]
2. Novel STAG3 variant associated with primary ovarian insufficiency and non-obstructive azoospermia in an Iranian consanguineous family.
Akbari A; Zoha Tabatabaei S; Salehi N; Padidar K; Almadani N; Ali Sadighi Gilani M; Mashayekhi M; Motevaseli E; Totonchi M
Gene; 2022 May; 821():146281. PubMed ID: 35176428
[TBL] [Abstract][Full Text] [Related]
3. Mutations in the stromal antigen 3 (STAG3) gene cause male infertility due to meiotic arrest.
van der Bijl N; Röpke A; Biswas U; Wöste M; Jessberger R; Kliesch S; Friedrich C; Tüttelmann F
Hum Reprod; 2019 Nov; 34(11):2112-2119. PubMed ID: 31682730
[TBL] [Abstract][Full Text] [Related]
4.
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]
5. Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.
Riera-Escamilla A; Enguita-Marruedo A; Moreno-Mendoza D; Chianese C; Sleddens-Linkels E; Contini E; Benelli M; Natali A; Colpi GM; Ruiz-Castañé E; Maggi M; Baarends WM; Krausz C
Hum Reprod; 2019 Jun; 34(6):978-988. PubMed ID: 31125047
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans.
Wu H; Zhang X; Hua R; Li Y; Cheng L; Li K; Liu Y; Gao Y; Shen Q; Wang G; Lv M; Xu Y; He X; Cao Y; Liu M
Hum Genet; 2022 Nov; 141(11):1795-1809. PubMed ID: 35587281
[TBL] [Abstract][Full Text] [Related]
8. Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.
Fan S; Jiao Y; Khan R; Jiang X; Javed AR; Ali A; Zhang H; Zhou J; Naeem M; Murtaza G; Li Y; Yang G; Zaman Q; Zubair M; Guan H; Zhang X; Ma H; Jiang H; Ali H; Dil S; Shah W; Ahmad N; Zhang Y; Shi Q
Am J Hum Genet; 2021 Feb; 108(2):324-336. PubMed ID: 33508233
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A Long Contiguous Stretch of Homozygosity Disclosed a Novel
Mellone S; Zavattaro M; Vurchio D; Ronzani S; Caputo M; Leone I; Prodam F; Giordano M
Genes (Basel); 2021 Oct; 12(11):. PubMed ID: 34828315
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females.
Hussain S; Nawaz S; Khan I; Khan N; Hussain S; Ullah I; Fakhro KA; Ahmad W
Eur J Med Genet; 2022 Nov; 65(11):104629. PubMed ID: 36202298
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Bi-allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest.
Yao C; Hou D; Ji Z; Pang D; Li P; Tian R; Zhang Y; Ou N; Bai H; Zhi E; Huang Y; Qin Y; Zhao J; Wang C; Zhou Z; Guo T; Li Z
Clin Genet; 2022 May; 101(5-6):507-516. PubMed ID: 35285020
[TBL] [Abstract][Full Text] [Related]
15. Mutant cohesin in premature ovarian failure.
Caburet S; Arboleda VA; Llano E; Overbeek PA; Barbero JL; Oka K; Harrison W; Vaiman D; Ben-Neriah Z; García-Tuñón I; Fellous M; Pendás AM; Veitia RA; Vilain E
N Engl J Med; 2014 Mar; 370(10):943-949. PubMed ID: 24597867
[TBL] [Abstract][Full Text] [Related]
16. A pathogenic DMC1 frameshift mutation causes nonobstructive azoospermia but not primary ovarian insufficiency in humans.
Cao D; Shi F; Guo C; Liu Y; Lin Z; Zhang J; Li RHW; Yao Y; Liu K; Ng EHY; Yeung WSB; Wang T
Mol Hum Reprod; 2021 Sep; 27(9):. PubMed ID: 34515795
[TBL] [Abstract][Full Text] [Related]
17. The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia.
Pashaei M; Rahimi Bidgoli MM; Zare-Abdollahi D; Najmabadi H; Haji-Seyed-Javadi R; Fatehi F; Alavi A
J Assist Reprod Genet; 2020 Feb; 37(2):451-458. PubMed ID: 31916078
[TBL] [Abstract][Full Text] [Related]
18. A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest.
Okutman O; Boivin M; Muller J; Charlet-Berguerand N; Viville S
Hum Reprod; 2023 Feb; 38(2):306-314. PubMed ID: 36524333
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.
Bramble MS; Goldstein EH; Lipson A; Ngun T; Eskin A; Gosschalk JE; Roach L; Vashist N; Barseghyan H; Lee E; Arboleda VA; Vaiman D; Yuksel Z; Fellous M; Vilain E
Hum Reprod; 2016 Apr; 31(4):905-14. PubMed ID: 26911863
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]