原著2017年

Hamada N*, Negishi Y*, Mizuno M, Miya F, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Tabata H, Saitoh S, Nagata KI. Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: Possible involvement in periventricular nodular heterotopia and intellectual disability. J Neurochem 140:82-95, 2017. *equal contribution
Negishi Y, Miya F, Hattori A, Johmura Y, Nakagawa M, Ando N, Hori I, Togawa T, Aoyama K, Ohashi K, Fukumura S, Mizuno S, Umemura A, Kishimoto Y, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Nakanishi M, Saitoh S.  A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. BMC Med Genet 18:4, 2017.
Kamioka N, Nomura T, Kato T, Yoneyama M, Sobajima T, Tanida H, Morishita T, Sugiura S, Suda Y, Hirabayashi Y, Misawa C, Tanaka H, Mizuno M, Terada A, Kanda Y, Saitoh S. Probability curves for predicting symptom severity during an oral food challenge with wheat. Allergol Int 2017 May 8. [ePub ahead of print]
Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Novel MCA/ID syndrome with ASH1L mutation. Am J Med Genet A. 173:1644-1648, 2017.
Nakano M, Uemura O, Honda M, Ito T, Nakajima Y, Saitoh S. Development of tandem mass spectrometry-based creatinine measurement using dried blood spot for newborn mass screening. Pediatr Res. 2017 May 17. [Epub ahead of print]
Kato K, Miya F, Hori I, Ieda D, Ohashi K, Negishi Y, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate. J Hum Genet. 2017  May 18. [Epub ahead of print]
Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, Ando N, Nishino I, Kato M, Tsunoda T, Saitsu H, Kanemura Y, Yamasaki M, Kosaki K, Matsumoto N, Yoshimori T, Saitoh S. Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopment disorder with multisystem involvement. Sci Rep. 7:3552, 2017.
Okamoto N, Miya F, Hatsukawa Y, Suzuki Y, Kawato K, Yamamoto Y, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Siblings with optic neuropathy and RTN4IP1 mutation. J Hum Genet. 2017 Jun 22.  [Epub ahead of print]
Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, Tajima T, Yorifuji T, Numakura C, Mizuno S, Nakamura A, Matsubara K, Fukami M, Ogata T. Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. Genet Med. 2017 Jun 22. [Epub ahead of print]
Ohashi K, Togawa T, Sugiura T, Ito K, Endo T, Aoyama K, Negishi Y, Kudo T, Ito R, Saitoh S. Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome. Acta Paediatr. 2017 Jul 11.  [Epub ahead of print]
Okazaki T, Saito Y, Hiraiwa R, Saitoh S, Kai M, Adachi K, Nishimura Y, Nanba E, Maegaki Y. Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1. Epileptic Disord. 2017 Jul 19. [Epub ahead of print]
Okamoto N, Tsuchiya Y, Miya F, Tsunoda T, Yamashita K, Boroevich KA, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K, Kitagawa D. A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology. Am J Med Genet A. 2017 Aug 4. [Epub ahead of print]
Hori I, Kawamura R, Nakabayashi K, Watanabe H, Higashimoto K, Tomikawa J, Ieda D, Ohashi K, Negishi Y, Hattori A, Sugio Y, Wakui K, Hata K, Soejima H, Kurosawa  K, Saitoh S. CTCF deletion syndrome: clinical features and epigenetic delineation. J Med Genet. 2017 Aug 28. [Epub ahead of print]
Nakamura Y, Togawa Y, Okuno Y, Muramatsu H, Nakabayashi K, Kuroki Y, Ieda D, Hori I, Negishi Y, Togawa T, Hattori A, Kojima S, Saitoh S. Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum. Brain Dev. 2017 Sep 8. [Epub ahead of print]
Aoyama K, Mizuno H, Tanaka T, Togawa T, Negishi Y, Ohashi K, Hori I, Ozawa M, Hamajima T, Saitoh S. Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism. J Pediatr Endocrinol Metab. 30:1111-1118, 2017.
Kidokoro H, de Vries LS, Ogawa C, Ito Y, Ohno A, Groenendaal F, Saitoh S, Okumura A, Ito Y, Natsume J. Predominant area of brain lesions in neonates with herpes simplex encephalitis. J Perinatol. 2017 Jul 20.[Epub ahead of print]
Nakamura Y, Hattori A, Nakashima M, Ieda D, Hori I, Negishi Y, Ando N, Matsumoto N, Saitoh S. A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever. Brain Dev. 2017 Oct 21. [Epub ahead of print]

[記事公開日]2017/04/17
[最終更新日]2017/10/30