Papers - Hasegawa, Tomonobu
-
A homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.
Yamaguchi R, Kato F, Hasegawa T, Katsumata N, Fukami M, Matsui T, Nagasaki K, Ogata T
Endcrine J 60 855 - 859 2013
Joint Work
-
Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.
Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T
PLos One 8 e60105 2013
Joint Work
-
A recurrent mutation in the 5’-UTR of IFITM5 causes osteogenesis imperfecta type V with broad phenotypic spectrum.
Takagi M, Sato S, Hara K, Tani C, Miyazaki O, Nishiura G, Hasegawa T
Am J Med Genet A 161A 1980 - 1982 2013
Joint Work
-
Novel compound heterozygous mutations of the growth horomone-releasing hormone receptor gene in a case of isolated growth hormone deficiency.
Soneda A, Adachi M, Muroya K, Asakura Y, Takagi M, Hasegawa T, Inoue H, Itakura M
GH IGF Res 23 89 - 97 2013
Joint Work
-
Association between Graves’ Disease and Renal Coloboma Syndrome: a case.
Sato T, Muroya K, Hanakawa J, Asakura Y, Takahashi E, Shiroyanagi Y, Yamazaki Y, Tanaka Y, Hasegawa T, Adachi M
Clin Pediatr Endocrinol 22 45 - 51 2013
Single Work
-
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S-i, Watanabe K, Ogura T, Matsubara Y
Am J Hum Genet 93 173 - 180 2013
Joint Work
-
A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum.
Takagi M, Sasaki G, Mitsui T, Honda M, Tanaka Y, Hasegawa T
Eur J Med Genet 56 526 - 528 2013
Joint Work
-
Heterozygous mutations in natriuretic peptide receptor-B gene (NPR2) as a cause of idiopathis short stature.
Vasques GA, Naoko A, Quedas EPS, Docko AJ, Funari MF, Nishi MY, Arnhold IJP, Hasegawa T, Jorge AA
J Clin Endocrinol Metat 98 E1636 - 1644 2013
Joint Work
-
Characteristic testicular histology is useful for the identification of NR5A1 gene mutation in prepubertal 46,XY patients.
Nishina-Uchida N, Fukuzawa R, Numakura C, Suwanai A, Hasegawa T, Hasegawa Y
Hor Res Paediatr 80 119 - 128 2013
Joint Work
-
Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1. Endocrine J 60:51-55,2013.
Kondo E, Nakamura A, Homma K, Hasegawa T, Yamaguchi T, Narugami T, Aoyagi H, Ishizu K, Tajima T
Endocrine J 60 51 - 55 2013
Joint Work
-
Pseudopseudohypoparathyroidism with a novel mutation in the GNAS gene showing thin bones of extremities and ossification of enthuses.
Hamasaki H, Mukaino T, Kaneko H, Mitsui T, Moriyama S, Hasegawa T, Yanai H
J Endocrinol Metab 3 150 - 152 2013
Joint Work
-
A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.
Hayashi M, Kataoka Y, Sugimura Y, Kato F, Fukami M, Ogata T, Homma K, Hasegawa T, Oiso Y, Sasano H, Tanaka H
Tohoku J Exp Med 231 75 - 84 2013
Joint Work
-
Backdoor pathway for dihydrotestosterone biosynthesis: Implications for normal and abnormal human sex development.
Fukami M, Homma K, Hasegawa T, Ogata T
Dev Dynamics 242 320 - 329 2013
Joint Work
-
尿ステロイドプロフィルによる新生児副腎皮質疾患の早期診断
本間桂子、長谷川奉延
小児科臨床 66 199 - 207 2013
-
182. 鳴海覚志、長谷川奉延。 次世代シークエンサーによる先天性内分泌疾患の分子基盤の解明 医学のあゆみ 245 427-432 (2013) 次世代シークエンサーによる先天性内分泌疾患の分子基盤の解明
鳴海覚志、長谷川奉延
医学のあゆみ 245 427 - 432 2013
-
クラインフェルター症候群
HASEGAWA TOMONOBU
分子精神医学 13 220 - 221 2013
-
副腎皮質系機能検査の進め方
柴田浩憲、長谷川奉延
小児内科 45 827 - 831 2013
-
高カリウム血症 副腎不全
吉田理恵、長谷川奉延
小児内科 45 1603 - 1606 2013
-
急性化膿性甲状腺炎・亜急性甲状腺炎・無痛性甲状腺炎
土岐真智子、上野滋、長谷川奉延
小児科 54 1213 - 1219 2013
-
甲状腺疾患に対する遺伝子検査
鳴海覚志、長谷川奉延
小児科 54 1105 - 1112 2013