3月の掲載論文・受賞
・内分泌グループ
A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation
Yamaguchi T, Hothubo T, Morikawa S, Nakamura A, Mori T, Tajima T.
Journal of Pediatric Endocrinology and Metabolism 2018 Feb 9
A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.
Ushijima K, Yatsuga S, Matsumoto T, Nakamura A, Fukami M, Kagami M.
J Hum Genet. 2018 Mar;63(3):377-381
A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth.
Nakamura A, Muroya K, Ogata-Kawata H, Nakabayashi K, Matsubara K, Ogata T, Kurosawa K, Fukami M, Kagami M.
J Med Genet. 2018 Feb 17. pii: jmedgenet-2017-104986.
Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes.
Ushijima K, Fukami M, Ayabe T, Narumi S, Okuno M, Nakamura A, Takahashi T, Ihara K, Ohkubo K, Tachikawa E, Nakayama S, Arai J, Kikuchi N, Kikuchi T, Kawamura T, Urakami T, Hata K1, Nakabayashi K, Matsubara Y, Amemiya S, Ogata T, Yokota I, Sugihara S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes.
Pediatr Diabetes. 2018 Mar;19(2):243-250.
・新生児グループ
Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar
Proteinosis with Hypogammaglobulinemia.
Cho K, Yamada M, Agematsu K, Kanegane H, Miyake N, Ueki M, Akimoto T, Kobayashi N, Ikemoto S, Tanino M, Fujita A, Hayasaka I, Miyamoto S, Tanaka-Kubota M, Nakata K, Shiina M, Ogata K, Minakami H, Matsumoto N, Ariga T.
Am J Hum Genet 102, 480–486, 2018