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31 results

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Page 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. Tucker EJ, et al. Among authors: dulon j. Hum Mutat. 2019 Jul;40(7):886-892. doi: 10.1002/humu.23744. Epub 2019 Mar 29. Hum Mutat. 2019. PMID: 30924587
Sperm cryopreservation in young males with congenital adrenal hyperplasia (CAH).
Chougar T, Laanani M, Ferreux L, Chalas C, Wolf JP, Bertherat J, Bouvattier C, Polak M, Bachelot A, Dulon J, Touraine P, Patrat C, Drouineaud V. Chougar T, et al. Among authors: dulon j. Clin Endocrinol (Oxf). 2022 Dec;97(6):860-862. doi: 10.1111/cen.14792. Epub 2022 Jul 7. Clin Endocrinol (Oxf). 2022. PMID: 35746828 No abstract available.
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: dulon j. Clin Genet. 2024 Sep;106(3):321-335. doi: 10.1111/cge.14543. Epub 2024 May 23. Clin Genet. 2024. PMID: 38779778
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.
Tucker EJ, Bell KM, Robevska G, van den Bergen J, Ayers KL, Listyasari N, Faradz SM, Dulon J, Bakhshalizadeh S, Sreenivasan R, Nouyou B, Carre W, Akloul L, Duros S, Domin-Bernhard M, Belaud-Rotureau MA, Touraine P, Jaillard S, Sinclair AH. Tucker EJ, et al. Among authors: dulon j. Eur J Hum Genet. 2022 Feb;30(2):219-228. doi: 10.1038/s41431-021-00977-9. Epub 2021 Oct 28. Eur J Hum Genet. 2022. PMID: 34707299 Free PMC article.
31 results