Published papers
Hasegawa, Tomonobu
141-160 items (total 510)
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.
- Author
- 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.
- Publication Title
- Magazine name Nat Genet Start Page 792-797 (Publication Date）2016）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia.
- Author
- Ishii T, Fukuzawa R, Sato T, Muroya K, Adachi M, Ihara K, Igaki J, Hasegawa Y, Sato S, Mitsui T, Hasegawa T.
- Publication Title
- Magazine name Eur J Endocrinol Start Page 127-132 (Publication Date）2016）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
A Novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity.
- Author
- Takagi M, Shinohara H, Nagashima Y, Hasegawa Y, Narumi S, Hasegawa T.
- Publication Title
- Magazine name Clin Endocrinol Start Page 669-671 (Publication Date）2016）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation.
- Author
- Mitani M, Furuichi M, Narumi S, Hasegawa T, Chiga M, Uchida S, Sato S.
- Publication Title
- Magazine name Clin Pediat Endocrinol Start Page 127-134 (Publication Date）2016）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Long-term clinical course in three patients with MAMLD1 mutations.
- Author
- Fujisawa Y, Fukami M, Hasegawa T, Uematsu A, Koji M, Ogata T, Muroya K,
- Publication Title
- Magazine name Endocrine J Start Page 835-839 (Publication Date）2016）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield Syndrome.
- Author
- Takagi M, Miyoshi T, Nagashima Y, Shibata N, Yagi H, Fukuzawa R , Hasegawa T.
- Publication Title
- Magazine name Hum Genome Var Start Page 16034 (Publication Date）2016）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
The distribution and cellular lineages of XX and XY cells in gonads associated with ovotesticular disorder of sexual development.
- Author
- Nishina-Uchida N, Fukuzawa R, Ishii T, Anaka MR, Hasegawa T, Hasegawa Y.
- Publication Title
- Magazine name Sex Dev. Start Page 185-190 (Publication Date）2016）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Co-administration of the CYP3A4 inhibitor diltiazem counterscts the mitotane-induced clearance of glucocorticoids and antihypertensives in a patient with adrenocortical carcinoma.
- Author
- Minami I, Yoshimoto T, Tsujimoto K, Homma K, Hasegawa T, Ogawa Y.
- Publication Title
- Magazine name AACE Clin Case Reports Start Page e36-e40 (Publication Date）2016）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
A novel mutation of THRB Gene in a Japanese family with resistance to thyroid hormone.
- Author
- Ito J, Narumi S, Nishizawa K, Kamimaki T, Hori N, Hasegawa T.
- Publication Title
- Magazine name Clin Pediatr Endocrinol Start Page 19-22 (Publication Date）2016）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Adult phenylketonuria presenting with subacute severe neurologic symptoms.
- Author
- Seki M, Takizawa T, Suzuki S, Shimizu T, Shibata H, Ishii T, Hasegawa T, Suzuki N
- Publication Title
- Magazine name J Clin Neuroscience Start Page 1361 - End Page 1363 (Publication Date）2015）
- Authorship Category
- Joint Work
Treatment of situation of male hypogonadotropic hypogonadism in pediatrics and proposal of testosterone and gonadotropins replacement therapy protocols.
- Author
- Sato N, Hasegawa T, Hasegawa Y, Arisaka O, Ozono K, Amemiya S, Kikuchi T, Tanaka H, Harada S, Miyata J, Tanaka T
- Publication Title
- Magazine name Clin Pediatr Endocrinol Start Page 37 - End Page 49 (Publication Date）2015）
- Authorship Category
- Joint Work
Waist Circumference centiles by age and sex for Japanese children based on the 1978-1981 cross-sectional national survey data.
- Author
- Anzo M, Inokkuchi M, Matsuo N, Takayama JI, Hasegawa T
- Publication Title
- Magazine name Ann Hum Biol Start Page 56 - End Page 61 (Publication Date）2015）
- Authorship Category
- Joint Work
Heterozygous defects in PAX6 gene and congenital hypopituitarism.
- Author
- Takagi M, Nagasaki K, Fujiwara I, Ishii T, Amano N, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T
- Publication Title
- Magazine name Eur J Endocrinol Start Page 37 - End Page 45 (Publication Date）2015）
- Authorship Category
- Joint Work
Trends in thin body stature among Japanese female adolescents, 2003 to 2012.
- Author
- Inokuchi M, Matsuo N, Takayama JI, Hasegawa T
- Publication Title
- Magazine name Ann Hum Biol. Start Page 533 - End Page 537 (Publication Date）2015）
- Authorship Category
- Joint Work
Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-prppeptide region of COL1A1.
- Author
- Takagi M, Matsushita M, Nishimura G, Hasegawa T
- Publication Title
- Magazine name Human Genome Variation Start Page 14025 (Publication Date）2015）
- Authorship Category
- Joint Work
Elevated levels of plasma immunoassayable aldosterone in a mild form of 17-hydroxylaase/17,20-lyase deficiency diagnosed at the age of 50.
- Author
- Ueda K, Usui T, Watanabe T, Kaneko K, Nakatani R, Kakita-Kobayashi M, Tanase-Nakao K, Nanba K, Tsuiki M, Tagami T, Naruse M, Toyoda Y, Homma K, Hasegawa T, Shimatsu A
- Publication Title
- Magazine name AACE Clin Case Reports Start Page e156 - End Page e160 (Publication Date）2015）
- Authorship Category
- Joint Work
Pseudodominant Inheritance in a Family with Non-autoimmune Hypothyroidism due to Biallelic DUOX2 Mutations.
- Author
- Abe K, Narumi S, Suwanai AS, Hamajima T, Hasegawa T
- Publication Title
- Magazine name Clin Endocrinol Start Page 394 - End Page 398 (Publication Date）2015）
- Authorship Category
- Joint Work
Distinguishing from primary from secondary delta4-3-oxisteroid 5-reductase (SRD5B1, AKR1D1) deficiencyby urinary ateroid analysis.
- Author
- Yanagi T, Mizuochi T, Homma K, Ueki I, Seki Y, Hasegawa T, Takei H, Nittono H, Kurosawa T, Matsuishi T, Kimura A
- Publication Title
- Magazine name Clin Endocrinol Start Page 346 - End Page 351 (Publication Date）2015）
- Authorship Category
- Joint Work
Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan
- Author
- 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
- Publication Title
- Magazine name Clin Pediatr Endocrinol Volume 24(Issue 4) Start Page 3167 - End Page 3173 (Publication Date）2015/10）
Diagnosis and treatment of adrenal insufficiency including adrenal crisis: a Japan Endocrine Society clinical practice guideline.
- Author
- Yanase T, Tajima T, Katabami T, Iwasaki Y, Tanahashi Y, Sugawara A, Hasegawa T, Mune T, Oki Y, Nakagawa Y, Miyamura N, Shimizu C, Otsuki M, Nomura M, Akehi Y, Tanabe M, Kasayama S.
- Publication Title
- Magazine name Endorine J Start Page 765 - End Page 784 (Publication Date）2016）
- Authorship Category
- Joint Work