Published papers
Hasegawa, Tomonobu
321-340 items (total 510)
先天性甲状腺機能低下症の遺伝子診断
- Author
- 鳴海覚志、長谷川奉延
- Publication Title
- Start Page 67 - End Page 74 (Publication Date）2013）
甲状腺疾患に対する遺伝子検査
- Author
- 鳴海覚志、長谷川奉延
- Publication Title
- Start Page 1105 - End Page 1112 (Publication Date）2013）
急性化膿性甲状腺炎・亜急性甲状腺炎・無痛性甲状腺炎
- Author
- 土岐真智子、上野滋、長谷川奉延
- Publication Title
- Start Page 1213 - End Page 1219 (Publication Date）2013）
高カリウム血症 副腎不全
- Author
- 吉田理恵、長谷川奉延
- Publication Title
- Start Page 1603 - End Page 1606 (Publication Date）2013）
副腎皮質系機能検査の進め方
- Author
- 柴田浩憲、長谷川奉延
- Publication Title
- Start Page 827 - End Page 831 (Publication Date）2013）
クラインフェルター症候群
- Author
- HASEGAWA TOMONOBU
- Publication Title
- Start Page 220 - End Page 221 (Publication Date）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
- Author
- 鳴海覚志、長谷川奉延
- Publication Title
- Start Page 427 - End Page 432 (Publication Date）2013）
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
- Author
- 本間桂子、長谷川奉延
- Publication Title
- Start Page 199 - End Page 207 (Publication Date）2013）
Backdoor pathway for dihydrotestosterone biosynthesis: Implications for normal and abnormal human sex development.
- Author
- Fukami M, Homma K, Hasegawa T, Ogata T
- Publication Title
- Magazine name Dev Dynamics Start Page 320 - End Page 329 (Publication Date）2013）
- Authorship Category
- Joint Work
A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.
- Author
- Hayashi M, Kataoka Y, Sugimura Y, Kato F, Fukami M, Ogata T, Homma K, Hasegawa T, Oiso Y, Sasano H, Tanaka H
- Publication Title
- Magazine name Tohoku J Exp Med Start Page 75 - End Page 84 (Publication Date）2013）
- Authorship Category
- Joint Work
Pseudopseudohypoparathyroidism with a novel mutation in the GNAS gene showing thin bones of extremities and ossification of enthuses.
- Author
- Hamasaki H, Mukaino T, Kaneko H, Mitsui T, Moriyama S, Hasegawa T, Yanai H
- Publication Title
- Magazine name J Endocrinol Metab Start Page 150 - End Page 152 (Publication Date）2013）
- Authorship Category
- Joint Work
Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1. Endocrine J 60:51-55,2013.
- Author
- Kondo E, Nakamura A, Homma K, Hasegawa T, Yamaguchi T, Narugami T, Aoyagi H, Ishizu K, Tajima T
- Publication Title
- Magazine name Endocrine J Start Page 51 - End Page 55 (Publication Date）2013）
- Authorship Category
- Joint Work
Characteristic testicular histology is useful for the identification of NR5A1 gene mutation in prepubertal 46,XY patients.
- Author
- Nishina-Uchida N, Fukuzawa R, Numakura C, Suwanai A, Hasegawa T, Hasegawa Y
- Publication Title
- Magazine name Hor Res Paediatr Start Page 119 - End Page 128 (Publication Date）2013）
- Authorship Category
- Joint Work
Heterozygous mutations in natriuretic peptide receptor-B gene (NPR2) as a cause of idiopathis short stature.
- Author
- Vasques GA, Naoko A, Quedas EPS, Docko AJ, Funari MF, Nishi MY, Arnhold IJP, Hasegawa T, Jorge AA
- Publication Title
- Magazine name J Clin Endocrinol Metat Start Page E1636 - End Page 1644 (Publication Date）2013）
- Authorship Category
- 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.
- Author
- Takagi M, Sasaki G, Mitsui T, Honda M, Tanaka Y, Hasegawa T
- Publication Title
- Magazine name Eur J Med Genet Start Page 526 - End Page 528 (Publication Date）2013）
- Authorship Category
- Joint Work
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
- Author
- 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
- Publication Title
- Magazine name Am J Hum Genet Start Page 173 - End Page 180 (Publication Date）2013）
- Authorship Category
- Joint Work
Association between Graves’ Disease and Renal Coloboma Syndrome: a case.
- Author
- Sato T, Muroya K, Hanakawa J, Asakura Y, Takahashi E, Shiroyanagi Y, Yamazaki Y, Tanaka Y, Hasegawa T, Adachi M
- Publication Title
- Magazine name Clin Pediatr Endocrinol Start Page 45 - End Page 51 (Publication Date）2013）
- Authorship Category
- Single Work
Novel compound heterozygous mutations of the growth horomone-releasing hormone receptor gene in a case of isolated growth hormone deficiency.
- Author
- Soneda A, Adachi M, Muroya K, Asakura Y, Takagi M, Hasegawa T, Inoue H, Itakura M
- Publication Title
- Magazine name GH IGF Res Start Page 89 - End Page 97 (Publication Date）2013）
- Authorship Category
- Joint Work
A recurrent mutation in the 5’-UTR of IFITM5 causes osteogenesis imperfecta type V with broad phenotypic spectrum.
- Author
- Takagi M, Sato S, Hara K, Tani C, Miyazaki O, Nishiura G, Hasegawa T
- Publication Title
- Magazine name Am J Med Genet A Start Page 1980 - End Page 1982 (Publication Date）2013）
- Authorship Category
- Joint Work
Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.
- Author
- 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
- Publication Title
- Magazine name PLos One Start Page e60105 (Publication Date）2013）
- Authorship Category
- Joint Work