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Page 1
Functional analysis of SRY variants in individuals with 46,XY differences of sex development.
Idris FP, van den Bergen J, Robevska G, Ferreira LGA, Ferreira KR, Kizys MML, Dias da Silva MR, Bruggenwirth HT, van Bever Y, Sinclair AH, Ayers KL. Idris FP, et al. Among authors: robevska g. Mol Cell Endocrinol. 2025 Jan 7;598:112458. doi: 10.1016/j.mce.2025.112458. Online ahead of print. Mol Cell Endocrinol. 2025. PMID: 39788310 Free article.
Functional characterisation of human recessive DIS3 variants in premature ovarian insufficiency.
Kline BL, Siddall NA, Wijaya F, Stuart CJ, Orlando L, Bakhshalizadeh S, Afkhami F, Bell KM, Jaillard S, Robevska G, Bergen JA, Shahbazi S, Hoof A, Ayers KL, Hime GR, Sinclair AH, Tucker EJ. Kline BL, et al. Among authors: robevska g. Biol Reprod. 2024 Oct 14:ioae148. doi: 10.1093/biolre/ioae148. Online ahead of print. Biol Reprod. 2024. PMID: 39400047
Generation of a homozygous (MCRIi031-A-3) WT1 knockout human iPSC line.
Pachernegg S, Robevska G, Ferreira LGA, van den Bergen JA, Vlahos K, Howden SE, Sinclair AH, Ayers KL. Pachernegg S, et al. Among authors: robevska g. Stem Cell Res. 2024 Sep;79:103494. doi: 10.1016/j.scr.2024.103494. Epub 2024 Jul 10. Stem Cell Res. 2024. PMID: 39003885 Free article.
Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.
Tucker EJ, Sharp MF, Lokchine A, Bell KM, Palmer CS, Kline BL, Robevska G, van den Bergen J, Dulon J, Stojanovski D, Ayers KL, Touraine P, Crismani W, Jaillard S, Sinclair AH. Tucker EJ, et al. Among authors: robevska g. Clin Genet. 2024 Sep;106(3):321-335. doi: 10.1111/cge.14543. Epub 2024 May 23. Clin Genet. 2024. PMID: 38779778
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.
Bakhshalizadeh S, Bird AD, Sreenivasan R, Bell KM, Robevska G, van den Bergen J, Asghari-Jafarabadi M, Kueh AJ, Touraine P, Lokchine A, Jaillard S, Ayers KL, Wilhelm D, Sinclair AH, Tucker EJ. Bakhshalizadeh S, et al. Among authors: robevska g. Genes (Basel). 2024 Mar 4;15(3):333. doi: 10.3390/genes15030333. Genes (Basel). 2024. PMID: 38540391 Free PMC article.
Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis.
Bakhshalizadeh S, Afkhami F, Bell KM, Robevska G, van den Bergen J, Cronin S, Jaillard S, Ayers KL, Kumar P, Siebold C, Xiao Z, Tate EW, Danaei S, Farzadi L, Shahbazi S, Sinclair AH, Tucker EJ. Bakhshalizadeh S, et al. Among authors: robevska g. Mol Cell Endocrinol. 2024 Jun 1;587:112212. doi: 10.1016/j.mce.2024.112212. Epub 2024 Mar 22. Mol Cell Endocrinol. 2024. PMID: 38521400 Free article.
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: robevska g. Nat Commun. 2023 Jun 15;14(1):3566. doi: 10.1038/s41467-023-39372-x. Nat Commun. 2023. PMID: 37322043 Free PMC article. No abstract available.
44 results