Papers - Hasegawa, Tomonobu
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Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield Syndrome.
Takagi M, Miyoshi T, Nagashima Y, Shibata N, Yagi H, Fukuzawa R , Hasegawa T.
Hum Genome Var 3 16034 2016
Research paper (scientific journal), Joint Work, Accepted
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Long-term clinical course in three patients with MAMLD1 mutations.
Fujisawa Y, Fukami M, Hasegawa T, Uematsu A, Koji M, Ogata T, Muroya K,
Endocrine J 63 835-839 2016
Research paper (scientific journal), Joint Work, Accepted
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A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation.
Mitani M, Furuichi M, Narumi S, Hasegawa T, Chiga M, Uchida S, Sato S.
Clin Pediat Endocrinol 25 127-134 2016
Research paper (scientific journal), Joint Work, Accepted
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A Novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity.
Takagi M, Shinohara H, Nagashima Y, Hasegawa Y, Narumi S, Hasegawa T.
Clin Endocrinol 85 669-671 2016
Research paper (scientific journal), Joint Work, Accepted
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Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia.
Ishii T, Fukuzawa R, Sato T, Muroya K, Adachi M, Ihara K, Igaki J, Hasegawa Y, Sato S, Mitsui T, Hasegawa T.
Eur J Endocrinol 175 127-132 2016
Research paper (scientific journal), Joint Work, Accepted
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SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.
Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S,Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Mastumoto N, Hasegawa T.
Nat Genet 48 792-797 2016
Research paper (scientific journal), Joint Work, Accepted
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Potential utility of cinacalcet as a treatment for CDC73-1 related primary hyperparathyroidism: a case report.
Sato T, Muroya K, Hanakawa J, Yamashita S, Nozawa K, Masudo K, Yamanaka T, Asakura Y, Hasegawa T. Adachi M.
Clin Pediatr Endocrinol 25 91-98 2016
Research paper (scientific journal), Joint Work, Accepted
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Stippled calcification in an infant with a recurrent SRCAP gene mutation.
Yagi H, Takagi M, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y.
Am J Med Gent A 170 1088-1091 2016
Research paper (scientific journal), Joint Work, Accepted
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Women with Turner syndrome are at high risk of lifestyle-related disease –From questionnaire surveys by the Foundation for Growth Science in Japan.
Hanew K, Tanaka T, Horikawa R, Hasegawa T, Fujita K, Yokoya S.
Endocrine J 63 449-456 2016
Research paper (scientific journal), Joint Work, Accepted
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Steroidogenic pathways involved in androgen biosynthesis in eumenorrheic women and patients with polycystic ovary syndrome.
Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Hasegawa T, Homma K, Inoue E, Miyashiro Y, Kubota T, Irahara M, Ogata T, Fukami M.
J Steroid Biochem Mol Biol 158 31-37 2016
Research paper (scientific journal), Joint Work, Accepted
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A case of mature teratoma with a falsely high serum estradiol value measured with immunoassay.
Hosokawa M, Shibata H, Ishii T, Fujino A, Kuroda T, kosaki K, Kameyama K, Hasegawa T.
J Pediatr Endocrinol Metab 29 737-739 2016
Research paper (scientific journal), Joint Work, Accepted
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A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes.
Takagi M, Takahashi M, Ohtsu Y, Sato T, Narumi S, Arakawa H, Hasegawa T.
Endocrine J 63 405-410 2016
Research paper (scientific journal), Joint Work, Accepted
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Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan
Tanaka T, Igarashi Y, Ozono K, Ohyama K, Ogawa M, Osada H, Onigata K, Kanzaki S, Kohno H, Seino Y, Takahashi H, Tajima T, Tachibana K, Tanaka H, Nishi Y, Hasegawa T, Fujita K, Yorifuji T, Horikawa R, Yokoya S
Clin Pediatr Endocrinol 24 ( 4 ) 3167 - 3173 2015.10
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Growth references for Japanese individuals with Noonan syndrome.
Isojima T, Sakatsume S, Hasegawa T, Ogata T, Nakanishi T, Nagai T, Yokoya S
Pediatr Res in press 2015
Joint Work
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TSH resistancerevisited.
Narumi S, Hasegawa T
Endocrine J 62 393 - 398 2015
Joint Work
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原発性性腺機能低下症
長谷川奉延
小児内科増刊号 小児疾患診療のための病態生理２ 改訂第5版 ( in press ) 2015
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小児における内分泌機能検査の注意点
志村和浩、長谷川奉延
ホと臨床 in press 2015
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くり返す低血糖後にてんかんを発症した高インスリン血性低血糖症の1例
福間真実、宮井健太郎、高木優樹、後藤正博、鳴海覚志、長谷川奉延、長谷川行洋
小児科診療 78 139 - 141 2015
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Turenr症候群とCAHの合併を認めた副腎偶発腫の一例
岩橋泰幸、福岡秀規、中島進介、井口元三、本間桂子、長谷川奉延、小川渉、高橋裕
日本内分泌学会雑誌 91 ( Supple ) 44 - 46 2015
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Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2
Yoshizawa-Ogasawara A, Abe K, Ogikubo S, Narumi S, Hasegawa T, Satoh M
J Pediatr Endocrinol Metab in press 2015