Norio Niikawa
| Norio Niikawa | |
|---|---|
| Native name | 新川 詔夫 |
| Born | May 8, 1942 |
| Nationality | Japanese |
| Fields | Medical genetics |
| Institutions |
Health Sciences University of Hokkaido Nagasaki University Geneva University Hokkaido University |
| Alma mater | Hokkaido University |
| Doctoral students | Naomichi Matsumoto |
| Known for | Kabuki syndrome |
Norio Niikawa (新川 詔夫 Niikawa Norio, born May 8, 1942) is a Japanese physician and medical geneticist who discovered an autosomal dominant disorder Kabuki syndrome, also known as Niikawa-Kuroki syndrome.[1] He and his colleagues also identified a gene for the syndrome.[2]
Biography
Niikawa completed his M.D. in 1967 from Hokkaido University School of Medicine.[3] After residency in Pediatrics at Hokkaido University Hospital, he worked as pediatrician for several years. From 1972 to 1975, he worked in the embryology and cytogenetics laboratory at the Department of Gynaecology and Obstetrics in the Cantonal Hospital, Geneva University.[4] He was appointed Professor and Chairman of the Department of Human Genetics at Nagasaki University in 1984.[3] After retiring from the position and becoming Professor Emeritus, he was Professor and Director at Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido where he became president in 2010.[5]
References
- ↑ Niikawa, N; Matsuura, N; Fukushima, Y; Ohsawa, T; Kajii, T (1981). "Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency". The Journal of Pediatrics 99 (4): 565–9. doi:10.1016/s0022-3476(81)80255-7. PMID 7277096.
- ↑ Ng, S. B.; Bigham, A. W.; Buckingham, K. J.; Hannibal, M. C.; McMillin, M. J.; Gildersleeve, H. I.; Beck, A. E.; Tabor, H. K.; Cooper, G. M.; Mefford, H. C.; Lee, C; Turner, E. H.; Smith, J. D.; Rieder, M. J.; Yoshiura, K; Matsumoto, N; Ohta, T; Niikawa, N; Nickerson, D. A.; Bamshad, M. J.; Shendure, J (2010). "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome". Nature Genetics 42 (9): 790–3. doi:10.1038/ng.646. PMC 2930028. PMID 20711175.
- 1 2 Dr. Norio Niikawa
- ↑ Whonamedit - Norio Niikawa
- ↑ 新川詔夫新学長就任挨拶 ―新医療人育成の北の拠点を目指して―(Japanese)
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