Prenatal organochlorine pesticide exposure and the disruption of steroids and reproductive hormones in cord blood
Araki A, Miyashita C, Mitsui T, Goudarzi H, Mizutani F, Chisaki Y, Itoh S, Sasaki S, Cho K, Moriya K, Shinohara N, Nonomura K, Kishi R
The Hokkaido study. Environ Int 110, 1-13, 2018
Genetic basis for childhood interstitial lung disease among Japanese infants and children.
Hayasaka I, ＊Cho K, Akimoto T, Ikeda M, Uzuki Y, Yamada M, Nakata K, Furuta I, Ariga T, Minakami
Pediatr Res 83, 477-483, 2018
Different Risk Factors for Very Low Birth Weight, Term-Small-for-Gestational-Age, or Preterm Birth in Japan.
Tamura N, Hanaoka T, Ito K, Araki A, Miyashita C, Ito S, Minakami H, Cho K, Endo T, Sengoku K, Ogasawara K, Kishi R
Int J Environ Res Public Health, 15, e369, 2018
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
SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.
Shima H, Ishii A, Wada Y, Kizawa J, Yokoi T, Azuma N, Matsubara Y, Suzuki E, Nakamura A, Narumi S, Fukami M.
Endocr J. 2017 Aug 30;64(8):813-817.
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.
(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.
Sano S, Nakamura A, Matsubara K, Nagasaki K, Fukami M, Kagami M, Ogata T.
J Endocr Soc. 2017 Nov 21;2(1):9-23.
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
Hattori A, Katoh-Fukui Y, Nakamura A, Matsubara K, Kamimaki T, Tanaka H, Dateki S5, Adachi M6, Muroya K, Yoshida S, Ida S, Mitani M, Nagasaki K9, Ogata , Suzuki E, Hata K, Nakabayashi K, Matsubara Y, Narumi S, Tanaka T, Fukami M.
Endocr J. 2017 Oct 28;64(10):947-954.
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.
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.
Genet Med. 2017 Dec;19(12):1356-1366
Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome.
Inoue T, Nakamura A, Matsubara K, Nyuzuki H, Nagasaki K, Oka A, Fukami M, Kagami M.
Am J Med Genet A. 2017 Oct;173(10):2847-2850
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.
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
Genetic basis for childhood interstitial lung disease among Japanese infants and children.
Hayasaka I, Cho K, Akimoto T, Ikeda M, Uzuki Y, Yamada M, Nakata K, Furuta I, Ariga T, Minakami H
Pediatr Res 83, 477-483, 2018
other members of the Hokkaido Study on Environment and Children’s Health：Prevalence and Risk of Birth Defects Observed in a Prospective Cohort Study: The Hokkaido Study on Environment and Children's Health.
Hanaoka T, Tamura N, Ito K, Sasaki S, Araki A, Ikeno T, Miyashita C, Ito S, Minakami H, Cho K, Endo T, Baba T, Miyamoto T, Sengoku K, Kishi R
J Epidemiol. 28，125-132，2018
Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA).
Hideaki Shiraishi, Kiyoshi Egawa, Tomoshiro Ito, Osamu Kawano, Naoko Asahina, Shinobu Kohsaka.
Epilepsy & Behavior Case Reports. 2017 ;8,44-46. doi:10.1016/j.ebcr.2017.05.004
Difficulty in the diagnosis of bone and joint pain associated with pediatric acute leukemia; comparison with juvenile idiopathic arthritis.
Tsujioka T, Sugiyama M, Ueki M, Tozawa Y, Takezaki S, Ohshima J, Cho Y, Yamada M, Iguchi A, Kobayashi I, Ariga T.
Mod Rheumatol. 2017 Jun 14:1-6. doi: 10.1080/14397595.2017.1332474
Single Cell-Based Vector Tracing in Patients with ADA-SCID Treated with Stem Cell Gene Therapy.
Igarashi Y, Uchiyama T, Minegishi T, Takahashi S, Watanabe N, Kawai T, Yamada M, Ariga T, Onodera M.
Mol Ther Methods Clin Dev. 2017 May 25;6:8-16.
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.
Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, Tajima T, Yorifuji T, Numakura C, Mizuno S, [b]Nakamura A[/b], Matsubara K, Fukami M, Ogata T
Genet Med. 2017 Jun 22. doi: 10.1038/gim.2017.53. [Epub ahead of print]
In vivo transgene expression in the pancreas by the intraductal injection of naked plasmid DNA.
Yuma Yamada, Mai Tabata, Jiro Abe, Masatoshi Nomura and Hideyoshi Harashima
J Pharm Sci (in press)
Successful bone marrow transplantation in two sisters with activated phosphoinositide 3-kinase δ syndrome 2. Bone Marrow Transplant.
Sugiyama M, Iguchi A, Yamada M, Terashita Y, Ohshima J, Cho Y, Miyake N, Matsumoto N, Ueki M, Yamazaki Y, Takezaki S, Kobayashi I, Ariga T
2017 Sep 1. doi: 10.1038/bmt.2017.189. [Epub ahead of print]
Relapsing Polychondritis With Increased Bone Marrow Signal on Magnetic Resonance Imaging in a 13-Year-Old Girl.
Nakayama K, Yamada M, Tozawa Y, Nakamaru Y, Ueki M, Takezaki S, Nishimura H, Mitsuhashi T, Oyama-Manabe N, Sakamoto K, Arai R, Yamamoto S, Uetake K, Ariga T.
J Clin Rheumatol. 2017 Sep 26. doi: 10.1097/RHU.0000000000000578. [Epub ahead of print]
Cardiac progenitor cells activated by mitochondrial delivery of resveratrol enhance the survival of a doxorubicin-induced cardiomyopathy mouse model via the mitochondrial activation of a damaged myocardium.
Abe J, Yamada Y, Atsuhito T, Harashima H.
Journal of Controlled Release 269 (2018) 177–188
