• 701 Citations
  • 16 h-Index
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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

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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 journalLetter


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 journalArticle

Open Access
Intellectual Disability
X Chromosome Inactivation
Cytogenetic Analysis
Open Access
Supravalvular Aortic Stenosis
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 journalArticle

Supravalvular Aortic Stenosis
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 journalArticle

Jacobsen Distal 11q Deletion Syndrome
Uniparental Disomy
X Chromosome Inactivation
Cytogenetic Analysis