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Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency.
Kline BL, Jaillard S, Bell KM, Bakhshalizadeh S, Robevska G, van den Bergen J, Dulon J, Ayers KL, Christodoulou J, Tchan MC, Touraine P, Sinclair AH, Tucker EJ. Kline BL, et al. Among authors: bell km. Genes (Basel). 2022 Nov 14;13(11):2113. doi: 10.3390/genes13112113. Genes (Basel). 2022. PMID: 36421788 Free PMC article.
SOX8 expression during chick embryogenesis.
Bell KM, Western PS, Sinclair AH. Bell KM, et al. Mech Dev. 2000 Jun;94(1-2):257-60. doi: 10.1016/s0925-4773(00)00296-3. Mech Dev. 2000. PMID: 10842083 Free article.
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.
White S, Ohnesorg T, Notini A, Roeszler K, Hewitt J, Daggag H, Smith C, Turbitt E, Gustin S, van den Bergen J, Miles D, Western P, Arboleda V, Schumacher V, Gordon L, Bell K, Bengtsson H, Speed T, Hutson J, Warne G, Harley V, Koopman P, Vilain E, Sinclair A. White S, et al. PLoS One. 2011 Mar 7;6(3):e17793. doi: 10.1371/journal.pone.0017793. PLoS One. 2011. PMID: 21408189 Free PMC article.
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: bell km. Hum Mutat. 2019 Jul;40(7):886-892. doi: 10.1002/humu.23744. Epub 2019 Mar 29. Hum Mutat. 2019. PMID: 30924587
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Tucker EJ, Rius R, Jaillard S, Bell K, Lamont PJ, Travessa A, Dupont J, Sampaio L, Dulon J, Vuillaumier-Barrot S, Whalen S, Isapof A, Stojkovic T, Quijano-Roy S, Robevska G, van den Bergen J, Hanna C, Simpson A, Ayers K, Thorburn DR, Christodoulou J, Touraine P, Sinclair AH. Tucker EJ, et al. Hum Genet. 2020 Oct;139(10):1325-1343. doi: 10.1007/s00439-020-02176-w. Epub 2020 May 12. Hum Genet. 2020. PMID: 32399598
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. Jaillard S, et al. Mol Hum Reprod. 2020 Sep 1;26(9):665-677. doi: 10.1093/molehr/gaaa050. Mol Hum Reprod. 2020. PMID: 32634216 Free article.
166 results