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A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum.
Takagi M, Sasaki G, Mitsui T, Honda M, Tanaka Y, Hasegawa T. Takagi M, et al. Among authors: tanaka y. Eur J Med Genet. 2013 Sep;56(9):526-8. doi: 10.1016/j.ejmg.2013.05.012. Epub 2013 Jul 26. Eur J Med Genet. 2013. PMID: 23895774
Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations.
Nakamura S, Miyado M, Saito K, Katsumi M, Nakamura A, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Okada H, Hata K, Nakabayashi K, Okamura K, Ogata H, Matsubara Y, Ogata T, Nakai H, Fukami M. Nakamura S, et al. Among authors: tanaka y. Andrology. 2017 Jul;5(4):824-831. doi: 10.1111/andr.12378. Andrology. 2017. PMID: 28718531 Free article.
STX2 is a causative gene for nonobstructive azoospermia.
Nakamura S, Kobori Y, Ueda Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito K, Nakamura A, Ogata T, Okada H, Nakai H, Miyado M, Fukami M. Nakamura S, et al. Among authors: tanaka y. Hum Mutat. 2018 Jun;39(6):830-833. doi: 10.1002/humu.23423. Epub 2018 Apr 10. Hum Mutat. 2018. PMID: 29570232
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.
Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T. Kagami M, et al. Among authors: tanaka y. Nat Genet. 2008 Feb;40(2):237-42. doi: 10.1038/ng.2007.56. Epub 2008 Jan 6. Nat Genet. 2008. PMID: 18176563
15,409 results
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