医学部臨床遺伝学センター

研究成果 1990 2020

フィルター
Letter
2019
Haploinsufficiency
Neurodevelopmental Disorders

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 1 1, (Accepted/In press) : : American Journal of Medical Genetics, Part A.

研究成果: Letter

Orofaciodigital Syndromes
Genes

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 1 1, (Accepted/In press) : : British Journal of Dermatology.

研究成果: Letter

Congenital Structural Myopathies
Hypohidrosis
Sweat
2018
1 引用 (Scopus)

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

Bone Morphogenetic Protein Receptors
Ubiquitin-Protein Ligases
Pedigree
Genetic Predisposition to Disease
Genomics
3 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

Pulmonary Hypertension
Mutation