• 629 Citations
  • 16 h-Index
19992019
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Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

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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

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
Ornithine Carbamoyltransferase Deficiency Disease
Gene Duplication
Exons
Mutation
Genes

Potential role for nectin-4 in the pathogenesis of pre-eclampsia: A molecular genetic study

Ito, M., Nishizawa, H., Tsutsumi, M., Kato, A., Sakabe, Y., Noda, Y., Ohwaki, A., Miyazaki, J., Kato, T., Shiogama, K., Sekiya, T., Kurahashi, H. & Fujii, T., 14-09-2018, In : BMC Medical Genetics. 19, 1, 166.

Research output: Contribution to journalArticle

Pre-Eclampsia
Molecular Biology
Trophoblasts
Placenta
Adherens Junctions

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., 01-01-2018, (Accepted/In press) 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