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A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.
Ullah F, Rauf W, Khan K, Khan S, Bell KM, de Oliveira VC, Tariq M, Bakhshalizadeh S, Touraine P, Katsanis N, Sinclair A, He S, Tucker EJ, Baig SM, Davis EE. Ullah F, et al. Among authors: sinclair a. Hum Genet. 2021 Dec;140(12):1733-1751. doi: 10.1007/s00439-021-02380-2. Epub 2021 Oct 13. Hum Genet. 2021. PMID: 34647195
SOX8 expression during chick embryogenesis.
Bell KM, Western PS, Sinclair AH. Bell KM, et al. Among authors: sinclair ah. 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. Among authors: sinclair a. 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. Hum Mutat. 2019 Jul;40(7):886-892. doi: 10.1002/humu.23744. Epub 2019 Mar 29. Hum Mutat. 2019. PMID: 30924587
Familial bilateral cryptorchidism is caused by recessive variants in RXFP2.
Ayers K, Kumar R, Robevska G, Bruell S, Bell K, Malik MA, Bathgate RA, Sinclair A. Ayers K, et al. Among authors: sinclair a. J Med Genet. 2019 Nov;56(11):727-733. doi: 10.1136/jmedgenet-2019-106203. Epub 2019 Jun 5. J Med Genet. 2019. PMID: 31167797 Free PMC article.
1,560 results