Research Output per year
Fingerprint Dive into the research topics where Makiko Tsutsumi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 3 Similar Profiles
Oryzias
Medicine & Life Sciences
Genes
Medicine & Life Sciences
Meiosis
Medicine & Life Sciences
Chromosome Segregation
Medicine & Life Sciences
Oocytes
Medicine & Life Sciences
Zebrafish
Medicine & Life Sciences
Fishes
Medicine & Life Sciences
Chromosome Pairing
Medicine & Life Sciences
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Research Output 1999 2019
A constitutional jumping translocation involving the y and acrocentric chromosomes
Tsutsumi, M., Fujita, N., Suzuki, F., Mishima, T., Fujieda, S., Watari, M., Takahashi, N., Tonoki, H., Moriwaka, O., Endo, T. & Kurahashi, H., 01-01-2019, In : Asian Journal of Andrology. 21, 1, p. 101-103 3 p.Research output: Contribution to journal › Letter
Chromosomes
A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: A case report
Tsutsumi, M., Hattori, H., Akita, N., Maeda, N., Kubota, T., Horibe, K., Fujita, N., Kawai, M., Shinkai, Y., Kato, M., Kato, T., Kawamura, R., Suzuki, F. & Kurahashi, H., 05-12-2019, In : BMC Medical Genomics. 12, 1, 182.Research output: Contribution to journal › Article
Open Access
Retinoblastoma
Intellectual Disability
X Chromosome Inactivation
Genes
Cytogenetic Analysis
Corrigendum to “Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis.” [Int. J. Cardiol., 274 (2019) 290–295](S0167527318323283)(10.1016/j.ijcard.2018.09.032)
Hayano, S., Okuno, Y., Tsutsumi, M., Inagaki, H., Fukasawa, Y., Kurahashi, H., Kojima, S., Takahashi, Y. & Kato, T., 01-10-2019, In : International Journal of Cardiology. 292, 1 p.Research output: Contribution to journal › Comment/debate
Open Access
Supravalvular Aortic Stenosis
Elastin
Exons
Manuscripts
Emotions
1
Citation
(Scopus)
Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis
Hayano, S., Okuno, Y., Tsutsumi, M., Inagaki, H., Fukasawa, Y., Kurahashi, H., Kojima, S., Takahashi, Y. & Kato, T., 01-01-2019, In : International Journal of Cardiology. 274, p. 290-295 6 p.Research output: Contribution to journal › Article
Supravalvular Aortic Stenosis
Elastin
Exome
Mutation
Williams Syndrome
1
Citation
(Scopus)
Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy
Kawai, M., Tsutsumi, M., Suzuki, F., Sameshima, K., Dowa, Y., Kyoya, T., Inagaki, H. & Kurahashi, H., 01-03-2019, In : European Journal of Medical Genetics. 62, 3, p. 224-228 5 p.Research output: Contribution to journal › Article
Jacobsen Distal 11q Deletion Syndrome
Uniparental Disomy
X Chromosome Inactivation
Mosaicism
Cytogenetic Analysis