Papers - Hasegawa, Tomonobu

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

Incidence of diabetes mellitus and neoplasia in Japanese short-statured children treated with growth hormonr in the Genetics and neuroendocrinology of short stature international study (GeNeSIS)

Yokoya S, Hasegawa T, Ozono K, Tanaka H, Kanzaki S, Tanaka T, Chihara K, Jia N, Child CJ, Ihara K, Funai J, Iwamoto N, Seino Y.

Clin Pediatr Endocrinol  26   229-241 2017

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

Mild thyroid peroxidase deficiency caused by TPO mutations with residual activir: Correlation between clinical phenotypes and enzymatic activity.

Narumi S, Fox LA, Fukudome K, Sakaguchi Z, Sugisawa C, Abe K, Kameyama K, Hasegawa T.

Endocr J  64   1087-1097 2017

Research paper (scientific journal), Joint Work, Accepted

Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia.

Kizu R, Nishimura K, Sato R, Kosaki K, Tanaka T, Tanigawara Y, Hasegawa T.

Hor Res Peadiatr 88   316-323 2017

Research paper (scientific journal), Joint Work, Accepted

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 2016.03

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

Joint Work

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

Joint Work

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted