• 5795 引用
  • 39 h指数
1986 …2020

年単位の研究成果

Pureに変更を加えた場合、すぐここに表示されます。

研究成果

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 5 1, : : Medicine. 99, 19, p. e19763

研究成果: Article

公開

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 1 1, : : clinical pediatric endocrinology. 29, 2, p. 89-90 2 p.

研究成果: Article

公開

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 2 3, : : Journal of Clinical Investigation. 130, 2, p. 641-654 14 p.

研究成果: Article

公開
1 引用 (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 7 1, : : Pediatrics International. 62, 7, p. 785-788 4 p.

研究成果: Article

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 1 1, (Accepted/In press) : : Molecular Genetics and Genomic Medicine. e1146.

研究成果: Article

公開
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 4 1, : : Journal of Pediatric Endocrinology and Metabolism. 32, 4, p. 415-419 5 p.

研究成果: Review article

2 引用 (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, : : Endocrine journal. 66, 10, p. 853-857 5 p.

研究成果: Article

公開
1 引用 (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 12 1, : : Hormone Research in Paediatrics. 92, 1, p. 56-63 8 p.

研究成果: Article

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 12 1, : : Human Genome Variation. 6, 1, 55.

研究成果: Article

公開

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 11 1, : : Endocrinology. 160, 11, p. 2673-2691 19 p.

研究成果: Article

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 1 1, : : Endocrine journal. 66, 9, p. 837-842 6 p.

研究成果: Article

公開

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. および1人, Narumi, S., 2019 12 1, : : Journal of Clinical Endocrinology and Metabolism. 104, 12, p. 6229-6237 9 p.

研究成果: Review article

1 引用 (Scopus)

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. および3人, Hasegawa, T., Ogata, T. & Matsumoto, N., 2019 7 15, : : Human molecular genetics. 28, 14, p. 2319-2329 11 p., ddz066.

研究成果: Article

3 引用 (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 6 1, : : Journal of Pediatric Endocrinology and Metabolism. 32, 6, p. 585-595 11 p.

研究成果: Review article

公開

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 7, : : Journal of the Endocrine Society. 3, 7, p. 1367-1374 8 p.

研究成果: Article

公開

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 1 1, : : Journal of Clinical Endocrinology and Metabolism. 104, 5, p. 1866-1870 5 p., jcem-201801752.

研究成果: Article

1 引用 (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 2 1, : : The Journal of clinical endocrinology and metabolism. 104, 2, p. 379-389 11 p.

研究成果: Article

8 引用 (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, : : clinical pediatric endocrinology. 27, 1, p. 9-18 10 p.

研究成果: Article

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, : : clinical pediatric endocrinology. 27, 3, p. 193-196 4 p.

研究成果: Comment/debate

3 引用 (Scopus)

An association with hypopituitarism and 9q subtelomere deletion syndrome

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

研究成果: Article

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 8 1, : : Thyroid. 28, 8, p. 1071-1073 3 p.

研究成果: Article

4 引用 (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 1 1, (Accepted/In press) : : Journal of Human Genetics.

研究成果: Article

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, : : clinical pediatric endocrinology. 27, 3, p. 197-199 3 p.

研究成果: Comment/debate

1 引用 (Scopus)
1 引用 (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 2 1, : : European Journal of Endocrinology. 178, 2, p. 137-144 8 p.

研究成果: Article

3 引用 (Scopus)
2 引用 (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 1 1, : : American journal of medical genetics. Part A. 176, 1, p. i

研究成果: Article

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 1, : : American Journal of Medical Genetics, Part A. 176, 1, p. 171-174 4 p.

研究成果: Article

3 引用 (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 10 1, : : Hormone Research in Paediatrics. 90, 2, p. 132-137 6 p.

研究成果: Article

3 引用 (Scopus)
1 引用 (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 4, : : Journal of Steroid Biochemistry and Molecular Biology. 178, p. 177-184 8 p.

研究成果: Article

1 引用 (Scopus)
1 引用 (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 11, : : PloS one. 13, 11, e0206184.

研究成果: Article

7 引用 (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 1 1, : : Endocrine journal. 65, 2, p. 213-220 8 p.

研究成果: Article

1 引用 (Scopus)
3 引用 (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 1 1, (Accepted/In press) : : Hormone Research in Paediatrics.

研究成果: Article

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, : : clinical pediatric endocrinology. 27, 3, p. 201-202 2 p.

研究成果: Letter

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 1 1, : : Endocrine journal. 65, 12, p. 1187-1192 6 p.

研究成果: Article

3 引用 (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 1 1, (Accepted/In press) : : Oral Science International.

研究成果: Article

Two novel mutations of COMP in Japanese boys with pseudoachondroplasia

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

研究成果: Article

公開
6 引用 (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 8, : : Journal of the Endocrine Society. 1, 8, p. 1056-1061 6 p.

研究成果: Article

公開
2 引用 (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) : : American Journal of Medical Genetics, Part A.

研究成果: Article

4 引用 (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, : : Endocrine Journal. 64, 2, p. 229-234 6 p.

研究成果: Comment/debate

3 引用 (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 3 2, : : Human Genome Variation. 4, 17003.

研究成果: Article

公開
2 引用 (Scopus)