• 7857 Citations
  • 44 h-Index
1985 …2020

Research output per year

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Research Output

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Letter
2018

Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome

Yamazawa, K., Yamada, Y., Kuroda, T., Mutai, H., Matsunaga, T., Komiyama, O. & Takahashi, T., 2018 Feb 1, In : American Journal of Medical Genetics, Part A. 176, 2, p. 496-498 3 p.

Research output: Contribution to journalLetter

2013

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

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

Research output: Contribution to journalLetter

1 Citation (Scopus)
2012

Imatinib is effective for prevention and improvement of fibrotic fasciitis as a manifestation of chronic GVHD

Osumi, T., Miharu, M., Tanaka, R., Du, W., Takahashi, T. & Shimada, H., 2012 Jan 1, In : Bone Marrow Transplantation. 47, 1, p. 139-140 2 p.

Research output: Contribution to journalLetter

5 Citations (Scopus)
2010

Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome

Izumi, K., Okuno, H., Maeyama, K., Sato, S., Yamamoto, T., Torii, C., Kosaki, R., Takahashi, T. & Kosaki, K., 2010 Apr 1, In : American Journal of Medical Genetics, Part A. 152, 4, p. 1028-1032 5 p.

Research output: Contribution to journalLetter

10 Citations (Scopus)

Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption

Fujita, H., Yanagi, T., Kosaki, R., Torii, C., Bamba, M., Takahashi, T. & Kosaki, K., 2010 Apr 1, In : American Journal of Medical Genetics, Part A. 152, 4, p. 1033-1035 3 p.

Research output: Contribution to journalLetter

6 Citations (Scopus)
2008

Split hand foot malformation with whorl-like pigmentary pattern: Phenotypic expression of somatic mosaicism for the p63 mutation

Kosaki, R., Naito, Y., Torii, C., Takahashi, T., Nakajima, T. & Kosaki, K., 2008 Oct 1, In : American Journal of Medical Genetics, Part A. 146, 19, p. 2574-2577 4 p.

Research output: Contribution to journalLetter

9 Citations (Scopus)

Tietz syndrome: Unique phenotype specific to mutations of MITF nuclear localization signal

Izumi, T., Kohta, A., Kimura, Y., Ishida, S., Takahashi, T., Ishiko, A. & Kosaki, K., 2008 Jul 1, In : Clinical Genetics. 74, 1, p. 93-95 3 p.

Research output: Contribution to journalLetter

20 Citations (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 Dec 1, In : American Journal of Medical Genetics, Part A. 143, 23, p. 2838-2842 5 p.

Research output: Contribution to journalLetter

2006

Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF [4]

Izumi, K., Yahagi, N., Fujii, Y., Higuchi, M., Kosaki, R., Naito, Y., Nishimura, G., Hosokai, N., Takahashi, T. & Kosaki, K., 2006 Feb 15, In : American Journal of Medical Genetics. 140 A, 4, p. 398-401 4 p.

Research output: Contribution to journalLetter

17 Citations (Scopus)

Molecular pathology of Shprintzen-Goldberg syndrome [4]

Kosaki, K., Takahashi, D., Udaka, T., Kosaki, R., Matsumoto, M., Ibe, S., Isobe, T., Tanaka, Y. & Takahashi, T., 2006 Jan 1, In : American Journal of Medical Genetics. 140 A, 1, p. 104-108 5 p.

Research output: Contribution to journalLetter

59 Citations (Scopus)
2005

Iridic and retinal coloboma associated with prenatal methimazole exposure [1]

Aramaki, M., Hokuto, I., Matsumoto, T., Ishimoto, H., Inoue, M., Kimura, T., Oikawa, Y. I., Ikeda, K., Yoshimura, Y., Takahashi, T. & Kosaki, K., 2005 Dec 1, In : American Journal of Medical Genetics, Part A. 139 A, 2, p. 156-158 3 p.

Research output: Contribution to journalLetter

16 Citations (Scopus)

Little response to zoledronic acid in a child of juvenile myelomonocytic leukemia (JMML) harboring the PTPN11 mutation [2]

Shimada, H., Shima, H., Shimasaki, N., Yoshihara, H., Mori, T. & Takahashi, T., 2005 Aug 1, In : Annals of Oncology. 16, 8, 1 p.

Research output: Contribution to journalLetter

9 Citations (Scopus)
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 Sep 1, In : American Journal of Medical Genetics. 129 A, 3, p. 321-322 2 p.

Research output: Contribution to journalLetter

8 Citations (Scopus)

Somatic PTPN11 mutation with a heterogenous clonal origin in children with juvenile myelomonocytic leukemia [3]

Shimada, H., Mori, T., Shimasaki, N., Shimizu, K., Takahashi, T. & Kosaki, K., 2004 Jun, In : Leukemia. 18, 6, p. 1142-1144 3 p.

Research output: Contribution to journalLetter

9 Citations (Scopus)