論文 - 長谷川　奉延

Three-quarters adrenalectomy for infantile-onset Cushing syndrome due to bilateral adrenal hyperplasia in McCune-Albright syndrome.

Itonaga T, Goto H, Toujigamori M, Ohno Y, Korematsu S, TIzumi T, Narumi S, Hasegawa T, Ihara K.

Hor Res Paediatr  88   285-290 2017年

研究論文（学術雑誌）, 共著, 査読有り

yndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX.

Takagi M, Yagi H, Fukuzawa R, Narumi S, Hasegawa T.

Hum Genome Var 4   17012 2017年

研究論文（学術雑誌）, 共著, 査読有り

Shimada H. Severe hypertriglyceridemia during treatment of acute lymphoblastic leukemia associated with type III hyperlipoproteinemia

Yamada Y, Shima H, Shibata H, Ishii T, Hasegawa T,

Pediatr Blood Cancer 64 （ 11 ）  2017年

研究論文（学術雑誌）, 共著, 査読有り

FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region.

Ohtaka K, Fujisawa Y, Takada F, Seo M, Kameda H, Hasegawa Y, Hasegawa T, Fukami M, Ogata T.

Hum Mutation 38   503-506 2017年

研究論文（学術雑誌）, 共著, 査読有り

Histological Change of Autoimmune Hepatitis with Graves’ disease; a child case report.

Yamada M, Shibata H, Masugi Y, Ishii T, Kameyama K, Ebinuma H, Hasegawa T.

Inter Med 56   2139-2143 2017年

研究論文（学術雑誌）, 共著, 査読有り

A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia cogenita.

Kusano C, Takagi M, Hori N, Murotsuki J, Nishimura G, Hasegawa T.

Hum Genome Var 4   17003 2017年

研究論文（学術雑誌）, 共著, 査読有り

A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.

Takagi M, Dobashi K, Nagahara K, Kato M, Nishimura G, Fukuzawa R, Narumi S, Hasegawa T.

Am J Med Genet A 173   1071-1076 2017年

研究論文（学術雑誌）, 共著, 査読有り

Discordant fetal phenotype of hypophosphatasia in two siblings.

Ikenoue S, Miyakoshi K, Ishii T, Sato Y, Otani T, Akiba Y, Kasuga Y, Ochiai D, Matsumoto T, Matsuzaki Y, Tachikawa K, Michigami T, Nishimura G, Ikeda K, Hasegawa T, Tanaka M.

Am J Med Genet A  176   171-174 2017年

研究論文（学術雑誌）, 共著, 査読有り

Whole exome sequencing identified a novel COL2A1 mutation that causes mild spondylo-epiphyseal dysplasia mimicking autosomal dominat bracholmia.

Takagi M, Shimizu M, Suzuki E, Shinohara H, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y.

Am J Med Genet 170 （ 3 ） 795 - 798 2016年03月

Diagnosis and treatment of adrenal insufficiency including adrenal crisis: a Japan Endocrine Society clinical practice guideline.

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.

Endorine J 30   765 - 784 2016年

共著

Waist-to-height ratio centiles by age and sex for Japanese children based on the 1978-1981 cross-sectional national survey data.

Inokuchi M, Matsuo N, Takayama J, Hasegawa T

Int J Obes (London) 40   65 - 70 2016年

共著

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

Feminizing adrenocortical cartinoma with distinct histopathological findings.

Hatano M, Takenaka Y, Inoue I, Homma K, Hasegawa T, Sasano H, Awata T, Katayama S.

Intern Med 55   3301-3307 2016年

研究論文（学術雑誌）, 共著, 査読有り

Effects of financial support on treatment of adolescents with growth hormone deficiency: a retrospective study in Japan.

Maeda E, Higashi T, Hasegawa T, Yokoya S, Mochizuki T, Ishii T, Ito J, Kanzaki S, Shimatsu A, Takano K, Tajim T, Tanaka H, Tanahashi Y, Teramoto A, Nagai T, Hanew K, Horikawa R, Yorifuji T, Wada N, Tanaka T.

BMC Health Services Research  16   602 2016年

研究論文（学術雑誌）, 共著, 査読有り

A case of transient neonatal diabetes due to a novel mutation in ABCC8.

Takagi M, Takeda R, Yagi H, Ariyasu D, Fukuzawa R, Hasegawa T.

Clin Pediatr Endocrinol  25   139-141 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