• 5795 Citations
  • 39 h-Index
1986 …2020

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

2020

A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4

Fujioka, M., Akiyama, T., Hosoya, M., Kikuchi, K., Fujiki, Y., Saito, Y., Yoshihama, K., Ozawa, H., Tsukada, K., Nishio, S. Y., Usami, S. I., Matsunaga, T., Hasegawa, T., Sato, Y. & Ogawa, K., 2020 May 1, In : Medicine. 99, 19, p. e19763

Research output: Contribution to journalArticle

Open Access

Central precocious puberty in a boy with pseudohypoparathyroidism type ia due to a novel GNAS mutation

Kagami, R., Sato, T., Ishii, T., Araki, E., Yamashita, Y., Shibata, H., Ishihara, J. & Hasegawa, T., 2020 Jan 1, In : clinical pediatric endocrinology. 29, 2, p. 89-90 2 p.

Research output: Contribution to journalArticle

Open Access

Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells

Matsumoto, R., Suga, H., Aoi, T., Bando, H., Fukuoka, H., Iguchi, G., Narumi, S., Hasegawa, T., Muguruma, K., Ogawa, W. & Takahashi, Y., 2020 Feb 3, In : Journal of Clinical Investigation. 130, 2, p. 641-654 14 p.

Research output: Contribution to journalArticle

Open Access

Historical changes and between-facility differences in adrenal venous sampling for primary aldosteronism in Japan

JPAS Study Group, 2020 Jan 1, In : Journal of Human Hypertension. 34, 1, p. 34-42 9 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Reference values for salivary cortisol in healthy young infants by liquid chromatography–tandem mass spectrometry

Saito-Abe, M., Yamamoto-Hanada, K., Nakayama, S. F., Hashimoto, Y., Natsume, O., Fukami, M., Hasegawa, T. & Ohya, Y., 2020 Jul 1, In : Pediatrics International. 62, 7, p. 785-788 4 p.

Research output: Contribution to journalArticle

Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations

Hwang, I. T., Mizuno, Y., Amano, N., Lee, H. J., Shim, Y. S., Nam, H. K., Rhie, Y. J., Yang, S., Lee, K. H., Hasegawa, T. & Kang, M. J., 2020 Jan 1, (Accepted/In press) In : Molecular Genetics and Genomic Medicine. e1146.

Research output: Contribution to journalArticle

Open Access
2019

A case report and literature review of monoallelic mutation of GHR

Mitani, M., Shima, H., Sato, T., Inoguchi, T., Kamimaki, T., Fukami, M. & Hasegawa, T., 2019 Apr 1, In : Journal of Pediatric Endocrinology and Metabolism. 32, 4, p. 415-419 5 p.

Research output: Contribution to journalReview article

2 Citations (Scopus)

Acromegaly caused by a somatotroph adenoma in patient with neurofibromatosis type 1

Hozumi, K., Fukuoka, H., Odake, Y., Takeuchi, T., Uehara, T., Sato, T., Inoshita, N., Yoshida, K., Matsumoto, R., Bando, H., Hirota, Y., Iguchi, G., Taniguchi, M., Otsuki, N., Nishigori, C., Kosaki, K., Hasegawa, T., Ogawa, W. & Takahashi, Y., 2019, In : Endocrine journal. 66, 10, p. 853-857 5 p.

Research output: Contribution to journalArticle

Open Access
1 Citation (Scopus)

A Familial Case of a Whole Germline CDC73 Deletion Discordant for Primary Hyperparathyroidism

Hatabu, N., Katori, N., Sato, T., Maeda, N., Suzuki, E., Komiyama, O., Tsutsui, H., Nagao, T., Nakauchi-Takahashi, H., Matsunaga, T., Ishii, T., Hasegawa, T. & Yamazawa, K., 2019 Dec 1, In : Hormone Research in Paediatrics. 92, 1, p. 56-63 8 p.

Research output: Contribution to journalArticle

A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation

Kusakawa, M., Sato, T., Hosoda, A., Araki, E., Matsuzaki, Y., Yamashita, Y., Ishihara, J., Inagaki, Y., Uchida, N., Ishii, T. & Hasegawa, T., 2019 Dec 1, In : Human Genome Variation. 6, 1, 55.

Research output: Contribution to journalArticle

Open Access

Decreased Activity of the Ghrhr and Gh Promoters Causes Dominantly Inherited GH Deficiency in Humanized GH1 Mouse Models

Ariyasu, D., Kubo, E., Higa, D., Shibata, S., Takaoka, Y., Sugimoto, M., Imaizumi, K., Hasegawa, T. & Araki, K., 2019 Nov 1, In : Endocrinology. 160, 11, p. 2673-2691 19 p.

Research output: Contribution to journalArticle

Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency

Sasaki, G., Ishii, T., Hori, N., Amano, N., Homma, K., Sato, S. & Hasegawa, T., 2019 Jan 1, In : Endocrine journal. 66, 9, p. 837-842 6 p.

Research output: Contribution to journalArticle

Open Access

Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review

Sugisawa, C., Takamizawa, T., Abe, K., Hasegawa, T., Shiga, K., Sugawara, H., Ohsugi, K., Muroya, K., Asakura, Y., Adachi, M., Daitsu, T., Numakura, C., Koike, A., Tsubaki, J., Kitsuda, K., Matsuura, N., Taniyama, M., Ishii, S., Satoh, T., Yamada, M. & 1 others, Narumi, S., 2019 Dec 1, In : Journal of Clinical Endocrinology and Metabolism. 104, 12, p. 6229-6237 9 p.

Research output: Contribution to journalReview article

1 Citation (Scopus)

In vivo verification of the pathophysiology of lipoid congenital adrenal hyperplasia in the adrenal cortex

Mizuno, Y., Ishii, T. & Hasegawa, T., 2019 Jan 1, In : Endocrinology. 160, 2, p. 331-338 8 p.

Research output: Contribution to journalArticle

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: Bioinformatics consideration

Hamanaka, K., Takata, A., Uchiyama, Y., Miyatake, S., Miyake, N., Mitsuhashi, S., Iwama, K., Fujita, A., Imagawa, E., Alkanaq, A. N., Koshimizu, E., Azuma, Y., Nakashima, M., Mizuguchi, T., Saitsu, H., Wada, Y., Minami, S., Katoh-Fukui, Y., Masunaga, Y., Fukami, M. & 3 others, Hasegawa, T., Ogata, T. & Matsumoto, N., 2019 Jul 15, In : Human molecular genetics. 28, 14, p. 2319-2329 11 p., ddz066.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Present status of prophylactic thyroidectomy in pediatric multiple endocrine neoplasia 2: A nationwide survey in Japan 1997-2017

Thyroid Committee of the Japanese Society for Pediatric Endocrinology, 2019 Jun 1, In : Journal of Pediatric Endocrinology and Metabolism. 32, 6, p. 585-595 11 p.

Research output: Contribution to journalReview article

Open Access

Pubertal and adult testicular functions in nonclassic lipoid congenital adrenal hyperplasia: A case series and review

Ishii, T., Hori, N., Amano, N., Aya, M., Shibata, H., Katsumata, N. & Hasegawa, T., 2019 Jul, In : Journal of the Endocrine Society. 3, 7, p. 1367-1374 8 p.

Research output: Contribution to journalArticle

Open Access

Pubertal Development and Pregnancy Outcomes in 46,XX Patients with Nonclassic Lipoid Congenital Adrenal Hyperplasia

Hatabu, N., Amano, N., Mori, J., Hasegawa, Y., Matsuura, H., Sumitomo, N., Nishizawa, K., Suzuki, M., Katakura, S., Kanamoto, N., Kamimaki, T., Ishii, T. & Hasegawa, T., 2019 Jan 1, In : Journal of Clinical Endocrinology and Metabolism. 104, 5, p. 1866-1870 5 p., jcem-201801752.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Safety Outcomes During Pediatric GH Therapy: Final Results From the Prospective GeNeSIS Observational Program

Child, C. J., Zimmermann, A. G., Chrousos, G. P., Cummings, E., Deal, C. L., Hasegawa, T., Jia, N., Lawrence, S., Linglart, A., Loche, S., Maghnie, M., Pérez Sánchez, J., Polak, M., Predieri, B., Richter-Unruh, A., Rosenfeld, R. G., Yeste, D., Yorifuji, T. & Blum, W. F., 2019 Feb 1, In : The Journal of clinical endocrinology and metabolism. 104, 2, p. 379-389 11 p.

Research output: Contribution to journalArticle

8 Citations (Scopus)
2018

Adrenocortical carcinoma characterized by gynecomastia: A case report

Takeuchi, T., Yoto, Y., Ishii, A., Tsugawa, T., Yamamoto, M., Hori, T., Kamasaki, H., Nogami, K., Oda, T., Nui, A., Kimura, S., Yamagishi, T., Homma, K., Hasegawa, T., Fukami, M., Watanabe, Y., Sasamoto, H. & Tsutsumi, H., 2018, In : clinical pediatric endocrinology. 27, 1, p. 9-18 10 p.

Research output: Contribution to journalArticle

A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2

Fukuma, M., Takagi, M., Shimazu, T., Imamura, H., Yagi, H., Nishimura, G. & Hasegawa, T., 2018, In : clinical pediatric endocrinology. 27, 3, p. 193-196 4 p.

Research output: Contribution to journalComment/debate

3 Citations (Scopus)

An association with hypopituitarism and 9q subtelomere deletion syndrome

Higuchi, S., Takagi, M., Takeda, R., Yoshihashi, H., Narumi, S. & Hasegawa, T., 2018 Jan 1, (Accepted/In press) In : Clinical Case Reports.

Research output: Contribution to journalArticle

A Novel Mutation in NKX2-1 Shows Dominant-Negative Effects only in the Presence of PAX8

Shinohara, H., Takagi, M., Ito, K., Shimizu, E., Fukuzawa, R. & Hasegawa, T., 2018 Aug 1, In : Thyroid. 28, 8, p. 1071-1073 3 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination

Takagi, M., Shimomura, S., Fukuzawa, R., Narumi, S., Nishimura, G. & Hasegawa, T., 2018 Jan 1, (Accepted/In press) In : Journal of Human Genetics.

Research output: Contribution to journalArticle

A pediatric case of insulinoma and a novel MEN1 mutation: The efficacy of the combination therapy of diazoxide and cornstarch

Nakano, S., Sato, T., Hosokawa, M., Takagi, C., Yoshida, F., Ishii, T., Sato, S. & Hasegawa, T., 2018, In : clinical pediatric endocrinology. 27, 3, p. 197-199 3 p.

Research output: Contribution to journalComment/debate

1 Citation (Scopus)

A pediatric case of pheochromocytoma without apparent hypertension associated with von hippel-lindau disease

Igaki, J., Nishi, A., Sato, T. & Hasegawa, T., 2018 Jan 1, In : Clinical Pediatric Endocrinology. 27, 2, p. 87-93 7 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach

Abe, K., Narumi, S., Suwanai, A. S., Adachi, M., Muroya, K., Asakura, Y., Nagasaki, K., Abe, T. & Hasegawa, T., 2018 Feb 1, In : European Journal of Endocrinology. 178, 2, p. 137-144 8 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)
2 Citations (Scopus)

Cover Image, Volume 176A, Number 1, January 2018

Ikenoue, S., Miyakoshi, K., Ishii, T., Sato, Y., Otani, T., Akiba, Y., Kasuga, Y., Ochiai, D., Matsumoto, T., Ichihashi, Y., Matsuzaki, Y., Tachikawa, K., Michigami, T., Nishimura, G., Ikeda, K., Hasegawa, T. & Tanaka, M., 2018 Jan 1, In : American journal of medical genetics. Part A. 176, 1, p. i

Research output: Contribution to journalArticle

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., Ichihashi, Y., Matsuzaki, Y., Tachikawa, K., Michigami, T., Nishimura, G., Ikeda, K., Hasegawa, T. & Tanaka, M., 2018 Jan, In : American Journal of Medical Genetics, Part A. 176, 1, p. 171-174 4 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Fetal goitrous hypothyroidism and polyhydramnios in a patient with compound heterozygous DUOXA2 Mutations

Tanase-Nakao, K., Miyata, I., Terauchi, A., Saito, M., Wada, S., Hasegawa, T. & Narumi, S., 2018 Oct 1, In : Hormone Research in Paediatrics. 90, 2, p. 132-137 6 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors

Sugisawa, C., Abe, K., Sunaga, Y., Taniyama, M., Hasegawa, T. & Narumi, S., 2018, In : clinical pediatric endocrinology. 27, 3, p. 123-130 8 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Longitudinal serum and urine steroid metabolite profiling in a 46,XY infant with prenatally identified POR deficiency

Ono, H., Numakura, C., Homma, K., Hasegawa, T., Tsutsumi, S., Kato, F., Fujisawa, Y., Fukami, M. & Ogata, T., 2018 Apr, In : Journal of Steroid Biochemistry and Molecular Biology. 178, p. 177-184 8 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Methylome analysis of thyroid ectopy shows no disease-specific DNA methylation signature

Narumi, S., Matsubara, K., Ishii, T. & Hasegawa, T., 2018 Jan 1, In : Clinical Pediatric Endocrinology. 27, 4, p. 235-238 4 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency

Shima, H., Hayashi, M., Tachibana, T., Oshiro, M., Amano, N., Ishii, T., Haruna, H., Igarashi, M., Kon, M., Fukuzawa, R., Tanaka, Y., Fukami, M., Hasegawa, T. & Narumi, S., 2018 Nov, In : PloS one. 13, 11, e0206184.

Research output: Contribution to journalArticle

7 Citations (Scopus)

Prevalence of central fatness in 1992–1994: 40% of Japanese boys 6–17 years

Inokuchi, M., Matsuo, N., Takayama, J. I. & Hasegawa, T., 2018 Jan 1, In : Endocrine journal. 65, 2, p. 213-220 8 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Prevalence of diverse complications and its association with karyotypes in Japanese adult women with turner syndrome—a questionnaire survey by the foundation for growth science—

Hanew, K., Tanaka, T., Horikawa, R., Hasegawa, T. & Yokoya, S., 2018 Jan 1, In : Endocrine Journal. 65, 5, p. 509-519 11 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Rapid Growth and Early Metastasis of Papillary Thyroid Carcinoma in an Adolescent Girl with Graves' Disease

Shimura, K., Shibata, H., Mizuno, Y., Amano, N., Hoshino, K., Kuroda, T., Kameyama, K., Matsuse, M., Mitsutake, N., Sugino, K., Yoshimura Noh, J., Hasegawa, T. & Ishii, T., 2018 Jan 1, (Accepted/In press) In : Hormone Research in Paediatrics.

Research output: Contribution to journalArticle

Responses to the letter to the editor “does growth-hormone treatment affect patients with and without a mitochondrial disorder differentially?” (Vol. 27, No. 2, p. 107-108, 2018)

Yokoya, S., Hasegawa, T., Ozono, K., Tanaka, H., Kanzaki, S., Tanaka, T., Chihara, K., Jia, N., Child, C. J., Ihara, K., Funai, J., Iwamoto, N. & Seino, Y., 2018, In : clinical pediatric endocrinology. 27, 3, p. 201-202 2 p.

Research output: Contribution to journalLetter

Serum 25-hydroxyvitamin D3 levels of one-month-old term infants in Tokyo using liquid chromatography tandem mass spectrometry

Hara, K., Ikeda, K., Koyama, Y., Wada, Y. & Hasegawa, T., 2018 Mar 1, In : Acta Paediatrica, International Journal of Paediatrics. 107, 3, p. 532-533 2 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Spontaneous virilization around puberty in nr5a1-related 46,xy sex reversal: Additional case and a literature review

Adachi, M., Hasegawa, T., Tanaka, Y., Asakura, Y., Hanakawa, J. & Muroya, K., 2018 Jan 1, In : Endocrine journal. 65, 12, p. 1187-1192 6 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Trismus-pseudocamptodactyly syndrome with bilateral hypoplastic mandibular condyles and shallow mandibular fossa: A case report

Kusano, C., Hori, N., Izawa, K., Kosaki, R., Nishimura, G. & Hasegawa, T., 2018 Jan 1, (Accepted/In press) In : Oral Science International.

Research output: Contribution to journalArticle

Two novel mutations of COMP in Japanese boys with pseudoachondroplasia

Ichihashi, Y., Takagi, M., Ishii, T., Watanabe, K., Nishimura, G. & Hasegawa, T., 2018 Dec 1, In : Human Genome Variation. 5, 1, 12.

Research output: Contribution to journalArticle

Open Access

WHO 2006 Child Growth Standards overestimate short stature and underestimate overweight in Japanese children

Inokuchi, M., Matsuo, N., Takayama, J. I. & Hasegawa, T., 2018 Jan 26, In : Journal of Pediatric Endocrinology and Metabolism. 31, 1, p. 33-38 6 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)
2017

A novel case of somatic KCNJ5 mutation in pediatric-onset aldosterone-producing adenoma

Uchida, N., Amano, N., Yamaoka, Y., Uematsu, A., Sekine, Y., Suzuki, M., Watanabe, J., Nishimoto, K., Mukai, K., Fukuzawa, R., Hasegawa, T. & Ishii, T., 2017 Aug, In : Journal of the Endocrine Society. 1, 8, p. 1056-1061 6 p.

Research output: Contribution to journalArticle

Open Access
2 Citations (Scopus)

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., 2017, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

4 Citations (Scopus)

A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency

Takagi, M., Kamasaki, H., Yagi, H., Fukuzawa, R., Narumi, S. & Hasegawa, T., 2017, In : Endocrine Journal. 64, 2, p. 229-234 6 p.

Research output: Contribution to journalComment/debate

3 Citations (Scopus)

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

Kusano, C., Takagi, M., Hori, N., Murotsuki, J., Nishimura, G. & Hasegawa, T., 2017 Mar 2, In : Human Genome Variation. 4, 17003.

Research output: Contribution to journalArticle

Open Access
2 Citations (Scopus)