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Page 1
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: bergen ja. 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: van den bergen ja. 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.
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.
van den Bergen JA, Robevska G, Eggers S, Riedl S, Grover SR, Bergman PB, Kimber C, Jiwane A, Khan S, Krausz C, Raza J, Atta I, Davis SR, Ono M, Harley V, Faradz SMH, Sinclair AH, Ayers KL. van den Bergen JA, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1095. doi: 10.1002/mgg3.1095. Epub 2020 Jan 21. Mol Genet Genomic Med. 2020. PMID: 31962012 Free PMC article.
A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report.
Rothacker KM, Ayers KL, Tang D, Joshi K, van den Bergen JA, Robevska G, Samnakay N, Nagarajan L, Francis K, Sinclair AH, Choong CS. Rothacker KM, et al. Among authors: van den bergen ja. Int J Pediatr Endocrinol. 2018;2018:2. doi: 10.1186/s13633-018-0056-3. Epub 2018 Mar 2. Int J Pediatr Endocrinol. 2018. PMID: 29507583 Free PMC article.
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Robevska G, van den Bergen JA, Ohnesorg T, Eggers S, Hanna C, Hersmus R, Thompson EM, Baxendale A, Verge CF, Lafferty AR, Marzuki NS, Santosa A, Listyasari NA, Riedl S, Warne G, Looijenga L, Faradz S, Ayers KL, Sinclair AH. Robevska G, et al. Among authors: van den bergen ja. Hum Mutat. 2018 Jan;39(1):124-139. doi: 10.1002/humu.23354. Epub 2017 Nov 2. Hum Mutat. 2018. PMID: 29027299 Free PMC article.
27 results