Tomoki Kosho
Department of Medical Genetics
Shinshu University School of Medicine
Matsumoto
Japan
[email]@hsp.md.shinshu-u.ac.jp
Name/email consistency: high
- De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment. Kosho, T., Sakazume, S., Kawame, H., Wakui, K., Wada, T., Okoshi, Y., Mikawa, M., Hasegawa, T., Matsuura, N., Niikawa, N., Matsumoto, N., Fukushima, Y. Clin. Dysmorphol. (2008)
- Care of children with trisomy 18 in Japan. Kosho, T. Am. J. Med. Genet. A (2008)
- Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes. Kosho, T., Takahashi, J., Momose, T., Nakamura, A., Sakurai, A., Wada, T., Yoshida, K., Wakui, K., Suzuki, T., Kasuga, K., Nishimura, G., Kato, H., Fukushima, Y. Am. J. Med. Genet. A (2007)
- Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment. Kosho, T., Nakamura, T., Kawame, H., Baba, A., Tamura, M., Fukushima, Y. Am. J. Med. Genet. A (2006)
- "Ring syndrome" involving chromosome 2 confirmed by FISH analysis using chromosome-specific subtelomeric probes. Kosho, T., Matsushima, K., Sahashi, T., Mitsui, N., Fukushima, Y., Sobajima, H., Ohashi, H. Genet. Couns. (2005)
- Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls. Kosho, T., Takahashi, J., Ohashi, H., Nishimura, G., Kato, H., Fukushima, Y. Am. J. Med. Genet. A (2005)
