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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. Among authors: sinclair ah. Hum Genet. 2020 Oct;139(10):1325-1343. doi: 10.1007/s00439-020-02176-w. Epub 2020 May 12. Hum Genet. 2020. PMID: 32399598
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.
Dynamic regulation of mitotic arrest in fetal male germ cells.
Western PS, Miles DC, van den Bergen JA, Burton M, Sinclair AH. Western PS, et al. Among authors: sinclair ah. Stem Cells. 2008 Feb;26(2):339-47. doi: 10.1634/stemcells.2007-0622. Epub 2007 Nov 15. Stem Cells. 2008. PMID: 18024419
Normalizing gene expression levels in mouse fetal germ cells.
van den Bergen JA, Miles DC, Sinclair AH, Western PS. van den Bergen JA, et al. Among authors: sinclair ah. Biol Reprod. 2009 Aug;81(2):362-70. doi: 10.1095/biolreprod.109.076224. Epub 2009 Apr 29. Biol Reprod. 2009. PMID: 19403927 Free PMC article.
233 results