原著2016年

Kawase K, Sugiura T, Nagaya Y, Yamada T, Sugimoto M, Ito K, Togawa T, Nagasaki R, Kato T, Kouwaki M, Koyama N, Saitoh S. Single nucleotide polymorphisms in AGTR1, TFAP2B, and TRAF1 are not associated with the incidence of patent ductus arteriosus in Japanese preterm infants. Pediatr Int 58:461-6, 2016.
Togawa T, Sugiura T, Ito K, Endo T, Aoyama K, Ohashi K, Negishi Y, Kudo T, Ito R, Kikuchi A, Arai-Ichinoi N, Kure S, Saitoh S. Molecular genetic dissection and neonatal/infantile intrahepatic cholestasis using targeted next-generation sequencing. J Pediatr 171:171-177.e4, 2016.
Ito S, Hayashi H, Sugiura T, Ito K, Ueda H, Togawa T, Endo T, Tanikawa K, Kage M, Kusuhara H, Saitoh S. Effects of 4-phenylbutyrate therapy in a preterm infant with cholestasis and liver fibrosis. Pediatr Int 58:506-509, 2016.
Uehara DT, Hayashi S, Okamoto N, Mizuno S, Chinen Y, Kosaki R, Kosho T, Kurosawa K, Matsumoto H, Mitsubuchi H, Numabe H, Saitoh S, Makita Y, Hata A, Imoto I, Inazawa J. SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements. J Hum Genet 61:335-43, 2016.
Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. Am J Med Genet A. 170:1863-7, 2016.
Saitsu H, Watanabe M, Akita T, Ohba C, Sugai K, Ong WP, Shiraishi H, Yuasa S, Matsumoto H, Beng KT, Saitoh S, Miyatake S, Nakashima M, Miyake N, Kato M, Fukuda A, Matsumoto N. Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay. Sci Rep 6:30072, 2016.
Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H. Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy. Eur J Hum Genet 24:1702-6, 2016.
Unno R, Mizuno K, Ito Y, Etani T, Okada A, Kawai N, Yasui T, Saitoh S, Hayashi Y. Treatment Strategy for Pediatric Paratesticular Rhabdomyosarcoma Based on Chimeric Gene Assessment. Urology 95:187-9, 2016.

[記事公開日]2017/04/17