• 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

フィルター
Letter
2018

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

2016

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., 2016 10 1, : : Clinical Endocrinology. 85, 4, p. 669-671 3 p.

研究成果: Letter

3 引用 (Scopus)
2015

A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of sotos syndrome

Nakamura, Y., Takagi, M., Yoshihashi, H., Miura, M., Narumi, S., Hasegawa, T., Miyake, Y. & Hasegawa, Y., 2015 5 1, : : American Journal of Medical Genetics, Part A. 167, 5, p. 1171-1174 4 p.

研究成果: Letter

8 引用 (Scopus)

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly

Takagi, M., Kouwaki, M., Kawase, K., Shinohara, H., Hasegawa, Y., Yamada, T., Fujiwara, I., Sawai, H., Nishimura, G. & Hasegawa, T., 2015 11, : : American Journal of Medical Genetics, Part A. 167, 11, p. 2851-2854 4 p.

研究成果: Letter

4 引用 (Scopus)
2013

A recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V

Takagi, M., Sato, S., Hara, K., Tani, C., Miyazaki, O., Nishimura, G. & Hasegawa, T., 2013 8, : : American Journal of Medical Genetics, Part A. 161, 8, p. 1980-1982 3 p.

研究成果: Letter

14 引用 (Scopus)

Spousal choice by height in an urban middle-class Japanese population

Uchida, K., Matsuo, N., Hori, N., Hasegawa, T. & Takahashi, T., 2013, : : Human Biology. 85, 4, p. 619-621 3 p.

研究成果: Letter

1 引用 (Scopus)
2012
16 引用 (Scopus)

Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C

Takagi, M., Kaneko-Schmitt, S., Suzumori, N., Nishimura, G. & Hasegawa, T., 2012 1 1, : : American Journal of Medical Genetics, Part A. 158 A, 1, p. 247-250 4 p.

研究成果: Letter

3 引用 (Scopus)

Mosaic upd(7)mat in a patient with Silver-Russell syndrome

Fuke-Sato, T., Yamazawa, K., Nakabayashi, K., Matsubara, K., Matsuoka, K., Hasegawa, T., Dobashi, K. & Ogata, T., 2012 2, : : American Journal of Medical Genetics, Part A. 158 A, 2, p. 465-468 4 p.

研究成果: Letter

5 引用 (Scopus)
2011
2 引用 (Scopus)
2010

Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood

Izumi, K., Takagi, M., Parikh, A. S., Hahn, A., Miskovsky, S. N., Nishimura, G., Torii, C., Kosaki, K., Hasegawa, T. & Neilson, D. E., 2010 8 1, : : American Journal of Medical Genetics, Part A. 152, 8, p. 2115-2119 5 p.

研究成果: Letter

6 引用 (Scopus)

Ruvalcaba syndrome revisited

Adachi, M., Muroya, K., Asakura, Y., Kurosawa, K., Nishimura, G., Narumi, S. & Hasegawa, T., 2010 7, : : American Journal of Medical Genetics, Part A. 152, 7, p. 1854-1857 4 p.

研究成果: Letter

1 引用 (Scopus)
2009

Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia

Wada, Y., Nishimura, G., Nagai, T., Sawai, H., Yoshikata, M., Miyagawa, S., Hanita, T., Sato, S., Hasegawa, T., Ishikawa, S. & Ogata, T., 2009 12 1, : : American Journal of Medical Genetics, Part A. 149, 12, p. 2882-2885 4 p.

研究成果: Letter

12 引用 (Scopus)
2007

Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family

Izumi, K., Nakano, M., Kosaki, K., Kosaki, R., Hosogai, N., Matsumoto, H., Hasegawa, T., Takahashi, T. & Kosaki, K., 2007 12 1, : : American Journal of Medical Genetics, Part A. 143, 23, p. 2838-2842 5 p.

研究成果: Letter

2004

Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13 [1]

Tamame, T., Hori, N., Homma, H., Yoshida, R., Inokuchi, M., Kosaki, K., Takahashi, T. & Hasegawa, T., 2004 9 1, : : American Journal of Medical Genetics. 129 A, 3, p. 321-322 2 p.

研究成果: Letter

8 引用 (Scopus)

Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome [1]

Ogata, T., Yoshida, R., Nagai, T., Hasegawa, T., Kinoshita, E. & Tanaka, T., 2004 11 1, : : American Journal of Medical Genetics. 130 A, 4, p. 432-434 3 p.

研究成果: Letter

24 引用 (Scopus)
2003

Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease [2]

Nishimura, G., Hasegawa, T., Fujino, M., Hori, N. & Tomita, Y., 2003 3 15, : : American Journal of Medical Genetics. 117 A, 3, p. 299-301 3 p.

研究成果: Letter

20 引用 (Scopus)
1996
3 引用 (Scopus)

Transition from latent to overt hypoparathyroidism in a child with CATCH 22 [7]

Hasegawa, T., Hasegawa, Y., Aso, T., Koto, S., Tanaka, N., Asamura, S., Nagai, T. & Tsuchiya, Y., 1996 1 1, : : European Journal of Pediatrics. 155, 5, p. 425-426 2 p.

研究成果: Letter

1 引用 (Scopus)
1994

Diagnostic value of ethylenediaminetetraacetic acid infusion in partial DiGeorge anomaly

Crespo, M. F. R., Hasegawa, T., Hasegawa, Y. & Tsuchiya, Y., 1994 10 1, : : European Journal of Pediatrics. 153, 10, 1 p.

研究成果: Letter

1993
18 引用 (Scopus)
1992

Reply

Hasegawa, Y. & Hasegawa, T., 1992 1, : : The Journal of Pediatrics. 120, 1, 1 p.

研究成果: Letter