Papers - Hasegawa, Tomonobu

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

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

Research paper (scientific journal), Joint Work, Accepted

Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan

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

Clin Pediatr Endocrinol 24 ( 4 ) 3167 - 3173 2015.10

Distinguishing from primary from secondary delta4-3-oxisteroid 5-reductase (SRD5B1, AKR1D1) deficiencyby urinary ateroid analysis.

Yanagi T, Mizuochi T, Homma K, Ueki I, Seki Y, Hasegawa T, Takei H, Nittono H, Kurosawa T, Matsuishi T, Kimura A

Clin Endocrinol 82   346 - 351 2015

Joint Work

Pseudodominant Inheritance in a Family with Non-autoimmune Hypothyroidism due to Biallelic DUOX2 Mutations.

Abe K, Narumi S, Suwanai AS, Hamajima T, Hasegawa T

Clin Endocrinol 83   394 - 398 2015

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.

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

AACE Clin Case Reports 1   e156 - e160 2015

Joint Work

Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-prppeptide region of COL1A1.

Takagi M, Matsushita M, Nishimura G, Hasegawa T

Human Genome Variation 1   14025 2015

Joint Work

Trends in thin body stature among Japanese female adolescents, 2003 to 2012.

Inokuchi M, Matsuo N, Takayama JI, Hasegawa T

Ann Hum Biol. 42   533 - 537 2015

Joint Work

Heterozygous defects in PAX6 gene and congenital hypopituitarism.

Takagi M, Nagasaki K, Fujiwara I, Ishii T, Amano N, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T

Eur J Endocrinol 172   37 - 45 2015

Joint Work

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

Anzo M, Inokkuchi M, Matsuo N, Takayama JI, Hasegawa T

Ann Hum Biol 42   56 - 61 2015

Joint Work