医学部臨床遺伝学センター

研究成果

フィルター
Letter
2020

Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α-human papillomavirus infection in the evolving verruca

Oiso, N., Kubo, A., Shimizu, A., Suzuki, H., Kosaki, K., Chikugo, T., Nakabayashi, K., Hata, K., Yanagihara, S., Ishikawa, O., Matsubara, Y., Amagai, M. & Kawada, A., 2020 1 1, (Accepted/In press) : : International Journal of Dermatology.

研究成果: Letter

IFT172 as the 19th gene causative of oral-facial-digital syndrome

Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Fukushima, H., Morisada, N., Tominaga, K., Onoda, M. & Kosaki, K., 2019 12 1, : : American Journal of Medical Genetics, Part A. 179, 12, p. 2510-2513 4 p.

研究成果: Letter

Sweat retention anhidrosis associated with tubular aggregate myopathy

Ishitsuka, Y., Inoue, S., Furuta, J., Koguchi-Yoshioka, H., Nakamura, Y., Watanabe, R., Okiyama, N., Fujisawa, Y., Enokizono, T., Fukushima, H., Suzuki, H., Nishino, I., Kosaki, K. & Fujimoto, M., 2019 11 1, : : British Journal of Dermatology. 181, 5, p. 1104-1106 3 p.

研究成果: Letter

2018

Genomic Comparison With Supercentenarians Identifies RNF213 as a Risk Gene for Pulmonary Arterial Hypertension

Suzuki, H., Kataoka, M., Hiraide, T., Aimi, Y., Yamada, Y., Katsumata, Y., Chiba, T., Kanekura, K., Isobe, S., Sato, Y., Satoh, T., Gamou, S., Fukuda, K. & Kosaki, K., 2018 12 1, : : Circulation. Genomic and precision medicine. 11, 12, p. e002317

研究成果: Letter

1 引用 (Scopus)

SOX17 mutations in Japanese patients with pulmonary arterial hypertension

Hiraide, T., Kataoka, M., Suzuki, H., Aimi, Y., Chiba, T., Kanekura, K., Satoh, T., Fukuda, K., Gamou, S. & Kosaki, K., 2018 11 1, : : American Journal of Respiratory and Critical Care Medicine. 198, 9, p. 1231-1233 3 p.

研究成果: Letter

4 引用 (Scopus)
2012

EEC syndrome-like phenotype in a patient with an IRF6 mutation

Kosaki, R., Kaneko, T., Torii, C. & Kosaki, K., 2012 5 1, : : American Journal of Medical Genetics, Part A. 158 A, 5, p. 1219-1220 2 p.

研究成果: Letter

2 引用 (Scopus)

The germline TP53 mutation c.722 C>T promotes bone and liver tumorigenesis at a young age

Osumi, T., Miharu, M., Fuchimoto, Y., Morioka, H., Kosaki, K. & Shimada, H., 2012 12 15, : : Pediatric Blood and Cancer. 59, 7, p. 1332-1333 2 p.

研究成果: Letter

3 引用 (Scopus)
2011

Monozygotic twins of Rubinstein-Taybi syndrome discordant for glaucoma

Kosaki, R., Fujita, H., Takada, H., Okada, M., Torii, C. & Kosaki, K., 2011 5 1, : : American Journal of Medical Genetics, Part A. 155, 5, p. 1189-1191 3 p.

研究成果: Letter

2 引用 (Scopus)

Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion

Kosaki, R., Fujita, H., Ueoka, K., Torii, C. & Kosaki, K., 2011 4 1, : : American Journal of Medical Genetics, Part A. 155, 4, p. 903-905 3 p.

研究成果: Letter

5 引用 (Scopus)

Reproductive success in patients with Hallermann-Streiff syndrome

Numabe, H., Sawai, H., Yamagata, Z., Muto, K., Kosaki, R., Yuki, K. & Kosaki, K., 2011 9 1, : : American Journal of Medical Genetics, Part A. 155, 9, p. 2311-2313 3 p.

研究成果: Letter

Three critical issues to consider before implementing a new genome-cohort study in Japan

Tamakoshi, A., Matsui, K., Sato, K., Masui, T. & Maruyama, E., 2011 3 31, : : Journal of epidemiology. 21, 2, p. 158-159 2 p.

研究成果: Letter

2010
10 引用 (Scopus)

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)

Ocular complications in mulvihill-smith syndrome

Ibrahim, O. M. A., Takefumi, Y., Dogru, M., Negishi, K., Kosaki, K. & Tsubota, K., 2010 6, : : Eye. 24, 6, p. 1123-1124 2 p.

研究成果: Letter

3 引用 (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 4 1, : : American Journal of Medical Genetics, Part A. 152, 4, p. 1033-1035 3 p.

研究成果: Letter

6 引用 (Scopus)

Two patients with Rubinstein-Taybi syndrome and severe pulmonary interstitial involvement

Kosaki, R., Kikuchi, S., Koinuma, G., Higuchi, M., Torii, C., Kawasaki, K. & Kosaki, K., 2010 7, : : American Journal of Medical Genetics, Part A. 152, 7, p. 1844-1846 3 p.

研究成果: Letter

2008
10 引用 (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 7 1, : : Clinical Genetics. 74, 1, p. 93-95 3 p.

研究成果: Letter

20 引用 (Scopus)
2007

Monozygotic twins of smith-magenis syndrome [3]

Kosaki, R., Okuyama, T., Tanaka, T., Migita, O. & Kosaki, K., 2007 4 1, : : American Journal of Medical Genetics, Part A. 143, 7, p. 768-769 2 p.

研究成果: Letter

2 引用 (Scopus)

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

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 2 15, : : American Journal of Medical Genetics. 140 A, 4, p. 398-401 4 p.

研究成果: Letter

17 引用 (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 1 1, : : American Journal of Medical Genetics. 140 A, 1, p. 104-108 5 p.

研究成果: Letter

59 引用 (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 12 1, : : American Journal of Medical Genetics, Part A. 139 A, 2, p. 156-158 3 p.

研究成果: Letter

16 引用 (Scopus)

OEIS complex with del(3)(q12.2q13.2) [3]

Kosaki, R., Fukuhara, Y., Kosuga, M., Okuyama, T., Kawashima, N., Honna, T., Ueoka, K. & Kosaki, K., 2005 6 1, : : American Journal of Medical Genetics. 135 A, 2, p. 224-226 3 p.

研究成果: Letter

43 引用 (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 9 1, : : American Journal of Medical Genetics. 129 A, 3, p. 321-322 2 p.

研究成果: Letter

8 引用 (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 6, : : Leukemia. 18, 6, p. 1142-1144 3 p.

研究成果: Letter

9 引用 (Scopus)
2001

A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome [1]

Kosaki, R., Ohashi, H., Yoshihashi, H., Suzuki, T. & Kosaki, K., 2001 11 12, : : Clinical Genetics. 60, 4, p. 314-315 2 p.

研究成果: Letter

16 引用 (Scopus)

Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID)

Kosaki, K., Shimasaki, N., Fukushima, H., Hara, M., Ogata, T. & Matsuo, N., 2001 1 1, : : American Journal of Human Genetics. 69, 3, p. 664-665 2 p.

研究成果: Letter

27 引用 (Scopus)
2000

Isoform-specific imprinting of the human PEG1/MEST gene [1]

Kosaki, K., Kosaki, R., Craigen, W. J. & Matsuo, N., 2000 1 1, : : American Journal of Human Genetics. 66, 1, p. 309-312 4 p.

研究成果: Letter

60 引用 (Scopus)