Maki Fukami

Maki Fukami

National Center for Child Health and Development - Tokyo / Japan
Others
AD Scientific Index ID: 5293030
国立成育医療研究センター
person_outline Maki Fukami's MOST POPULAR ARTICLES
1-) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndromeE Rao, B Weiss, M Fukami, A Rump, B Niesler, A Mertz, K Muroya, ...Nature genetics 16 (1), 54-63, 199711161997
2-) SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7S Narumi, N Amano, T Ishii, N Katsumata, K Muroya, M Adachi, ...Nature genetics 48 (7), 792-797, 20162862016
3-) Deletions of the Homeobox Gene SHOX (Short Stature Homeobox) Are an Important Cause of Growth Failure in Children with Short StatureGA Rappold, M Fukami, B Niesler, S Schiller, W Zumkeller, M Bettendorf, ...The Journal of Clinical Endocrinology & Metabolism 87 (3), 1402-1406, 20022852002
4-) Rapid generation of mouse models with defined point mutations by the CRISPR/Cas9 systemM Inui, M Miyado, M Igarashi, M Tamano, A Kubo, S Yamashita, ...Scientific reports 4 (1), 5396, 20142652014
5-) The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2: Hierarchical Interaction and Distinct Functional Properties as Imprinting Control CentersM Kagami, MJ O\'Sullivan, AJ Green, Y Watabe, O Arisaka, N Masawa, ...PLoS genetics 6 (6), e1000992, 20102422010