• 697 Citations
  • 16 h-Index
19992019
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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.

  • 2 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

Chromosomes
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 journalArticle

Supravalvular Aortic Stenosis
Elastin
Exome
Mutation
Williams Syndrome

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
Mosaicism
Cytogenetic Analysis
Ornithine Carbamoyltransferase Deficiency Disease
Gene Duplication
Exons
Mutation
Genes