論文 - 長谷川　奉延

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 29   363-371 2016年

研究論文（学術雑誌）, 共著, 査読有り

Growth references for Japanese individuals with Noonan syndrome.

Isojima T, Sakatsume S, Hasegawa T, Ogata T, Nakanishi T, Nagai T, Yokoya S.

Pediatr Res  79   543-548 2016年

研究論文（学術雑誌）, 共著, 査読有り

A novel mutation of THRB Gene in a Japanese family with resistance to thyroid hormone.

Ito J, Narumi S, Nishizawa K, Kamimaki T, Hori N, Hasegawa T.

Clin Pediatr Endocrinol  25   19-22 2016年

研究論文（学術雑誌）, 共著, 査読有り

Co-administration of the CYP3A4 inhibitor diltiazem counterscts the mitotane-induced clearance of glucocorticoids and antihypertensives in a patient with adrenocortical carcinoma.

Minami I, Yoshimoto T, Tsujimoto K, Homma K, Hasegawa T, Ogawa Y.

AACE Clin Case Reports 2   e36-e40 2016年

研究論文（学術雑誌）, 共著, 査読有り

The distribution and cellular lineages of XX and XY cells in gonads associated with ovotesticular disorder of sexual development.

Nishina-Uchida N, Fukuzawa R, Ishii T, Anaka MR, Hasegawa T, Hasegawa Y.

Sex Dev.  10   185-190 2016年

研究論文（学術雑誌）, 共著, 査読有り

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年

研究論文（学術雑誌）, 共著, 査読有り

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年

研究論文（学術雑誌）, 共著, 査読有り

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年

研究論文（学術雑誌）, 共著, 査読有り

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年

研究論文（学術雑誌）, 共著, 査読有り

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年

研究論文（学術雑誌）, 共著, 査読有り

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年

研究論文（学術雑誌）, 共著, 査読有り

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年

研究論文（学術雑誌）, 共著, 査読有り

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年

研究論文（学術雑誌）, 共著, 査読有り

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年

研究論文（学術雑誌）, 共著, 査読有り

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年

研究論文（学術雑誌）, 共著, 査読有り

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年

研究論文（学術雑誌）, 共著, 査読有り

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年

研究論文（学術雑誌）, 共著, 査読有り

Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites.

Koyama Y, Homma K, Fukami M, Miwa M, Ikeda K, Ogata T, Murata M, Hasegawa T.

Clin Pediatr Endocrinol 25   37-44 2016年

研究論文（学術雑誌）, 共著, 査読有り

Criteria for Radiological Diagnosis of Hypochondroplasia in Neonates.

Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A.

Pediatr Radiol 46   513-518 2016年

研究論文（学術雑誌）, 共著, 査読有り

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 29   363-371 2016年

研究論文（学術雑誌）, 共著, 査読有り