• 783 引用
  • 15 h指数
20092020

年単位の研究成果

Pureに変更を加えた場合、すぐここに表示されます。

研究成果

フィルター
Article
2020

Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis

Uehara, T., Yamada, M., Umetsu, S., Nittono, H., Suzuki, H., Fujisawa, T., Takenouchi, T., Inui, A. & Kosaki, K., 2020 6, : : Journal of Pediatrics. 221, p. 251-254 4 p.

研究成果: Article

公開

Novel ARX mutation identified in infantile spasm syndrome patient

Takeshita, Y., Ohto, T., Enokizono, T., Tanaka, M., Suzuki, H., Fukushima, H., Uehara, T., Takenouchi, T., Kosaki, K. & Takada, H., 2020 12 1, : : Human Genome Variation. 7, 1, 9.

研究成果: Article

公開
2019

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2

Saeki, S., Enokizono, T., Imagawa, K., Fukushima, H., Kajikawa, D., Sakai, A., Tanaka, M., Ohto, T., Suzuki, H., Uehara, T., Takenouchi, T., Kenjiro, K. & Takada, H., 2019 11 1, : : Clinical Case Reports. 7, 11, p. 2059-2063 5 p.

研究成果: Article

公開

A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay

Ueno, Y., Enokizono, T., Fukushima, H., Ohto, T., Imagawa, K., Tanaka, M., Sakai, A., Suzuki, H., Uehara, T., Takenouchi, T., Kosaki, K. & Takada, H., 2019 12 1, : : Human Genome Variation. 6, 1, 25.

研究成果: Article

公開
1 引用 (Scopus)

Body Temperature, Heart Rate, and Short-Term Outcome of Cooled Infants

Tsuda, K., Iwata, S., Mukai, T., Shibasaki, J., Takeuchi, A., Ioroi, T., Sano, H., Yutaka, N., Takahashi, A., Takenouchi, T., Osaga, S., Tokuhisa, T., Takashima, S., Sobajima, H., Tamura, M., Hosono, S., Nabetani, M. & Iwata, O., 2019 3, : : Therapeutic Hypothermia and Temperature Management. 9, 1, p. 76-85 10 p.

研究成果: Article

公開
1 引用 (Scopus)
1 引用 (Scopus)

De novo NSF mutations cause early infantile epileptic encephalopathy

Suzuki, H., Yoshida, T., Morisada, N., Uehara, T., Kosaki, K., Sato, K., Matsubara, K., Takano-Shimizu, T. & Takenouchi, T., 2019 11 1, : : Annals of Clinical and Translational Neurology. 6, 11, p. 2334-2339 6 p.

研究成果: Article

公開
1 引用 (Scopus)

Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model

Uehara, T., Suzuki, H., Okamoto, N., Kondoh, T., Ahmad, A., O’Connor, B. C., Yoshina, S., Mitani, S., Kosaki, K. & Takenouchi, T., 2019 12 1, : : Scientific reports. 9, 1, 4418.

研究成果: Article

公開
4 引用 (Scopus)

Schuurs-Hoeijmakers syndrome in two patients from Japan

Hoshino, Y., Enokizono, T., Imagawa, K., Tanaka, R., Suzuki, H., Fukushima, H., Arai, J., Sumazaki, R., Uehara, T., Takenouchi, T. & Kosaki, K., 2019 3, : : American Journal of Medical Genetics, Part A. 179, 3, p. 341-343 3 p.

研究成果: Article

1 引用 (Scopus)
2018
3 引用 (Scopus)
1 引用 (Scopus)
3 引用 (Scopus)

Growth pattern of Rahman syndrome

Takenouchi, T., Uehara, T., Kosaki, K. & Mizuno, S., 2018 3 1, : : American Journal of Medical Genetics, Part A. 176, 3, p. 712-714 3 p.

研究成果: Article

2 引用 (Scopus)
1 引用 (Scopus)
2 引用 (Scopus)

Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation

Uehara, T., Ishige, T., Hattori, S., Yoshihashi, H., Funato, M., Yamaguchi, Y., Takenouchi, T. & Kosaki, K., 2018 6, : : American Journal of Medical Genetics, Part A. 176, 6, p. 1335-1340 6 p.

研究成果: Article

1 引用 (Scopus)
5 引用 (Scopus)
2017

A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak

Ohto, T., Enokizono, T., Tanaka, R., Tanaka, M., Suzuki, H., Sakai, A., Imagawa, K., Fukushima, H., Fukushima, T., Sumazaki, R., Uehara, T., Takenouchi, T. & Kosaki, K., 2017 8 10, : : Human Genome Variation. 4, 17033.

研究成果: Article

公開
2 引用 (Scopus)
7 引用 (Scopus)

Cover Image, Volume 173A, Number 5, May 2017

Takenouchi, T., Kuchikata, T., Yoshihashi, H., Fujiwara, M., Uehara, T., Miyama, S., Yamada, S. & Kosaki, K., 2017 5 1, : : American journal of medical genetics. Part A. 173, 5, p. i

研究成果: Article

2 引用 (Scopus)

Expansion of the phenotype of Kosaki overgrowth syndrome

Minatogawa, M., Takenouchi, T., Tsuyusaki, Y., Iwasaki, F., Uehara, T., Kurosawa, K., Kosaki, K. & Curry, C. J., 2017, (Accepted/In press) : : American Journal of Medical Genetics, Part A.

研究成果: Article

14 引用 (Scopus)
5 引用 (Scopus)

Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A

Enokizono, T., Ohto, T., Tanaka, R., Tanaka, M., Suzuki, H., Sakai, A., Imagawa, K., Fukushima, H., Iwabuti, A., Fukushima, T., Sumazaki, R., Uehara, T., Takenouchi, T. & Kosaki, K., 2017 10 1, : : American Journal of Medical Genetics, Part A. 173, 10, p. 2821-2825 5 p.

研究成果: Article

4 引用 (Scopus)

Respiratory arrest at the onset of idiopathic childhood occipital epilepsy of Gastaut

Funata, K., Shike, T., Takenouchi, T., Yamashita, Y. & Takahashi, T., 2017, (Accepted/In press) : : Brain and Development.

研究成果: Article

Therapeutic hypothermia for neonatal encephalopathy: A report from the first 3 years of the Baby Cooling Registry of Japan

Tsuda, K., Mukai, T., Iwata, S., Shibasaki, J., Tokuhisa, T., Ioroi, T., Sano, H., Yutaka, N., Takahashi, A., Takeuchi, A., Takenouchi, T., Araki, Y., Sobajima, H., Tamura, M., Hosono, S., Nabetani, M. & Iwata, O., 2017 1 4, : : Scientific reports. 7, 39508.

研究成果: Article

8 引用 (Scopus)

Truncating mutation in CSNK2B and myoclonic epilepsy

Sakaguchi, Y., Uehara, T., Suzuki, H., Kosaki, K. & Takenouchi, T., 2017, (Accepted/In press) : : Human Mutation.

研究成果: Article

2 引用 (Scopus)

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Gabriele, M., Vulto-van Silfhout, A. T., Germain, P. L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., Steindl, K., Frengen, E., Misceo, D., Pedurupillay, C. R. J., Stromme, P., Rosenfeld, J. A., Shao, Y., Craigen, W. J., Schaaf, C. P., Rodriguez-Buritica, D. および31人, Farach, L., Friedman, J., Thulin, P., McLean, S. D., Nugent, K. M., Morton, J., Nicholl, J., Andrieux, J., Stray-Pedersen, A., Chambon, P., Patrier, S., Lynch, S. A., Kjaergaard, S., Tørring, P. M., Brasch-Andersen, C., Ronan, A., van Haeringen, A., Anderson, P. J., Powis, Z., Brunner, H. G., Pfundt, R., Schuurs-Hoeijmakers, J. H. M., van Bon, B. W. M., Lelieveld, S., Gilissen, C., Nillesen, W. M., Vissers, L. E. L. M., Gecz, J., Koolen, D. A., Testa, G. & de Vries, B. B. A., 2017 6 1, : : American Journal of Human Genetics. 100, 6, p. 907-925 19 p.

研究成果: Article

34 引用 (Scopus)
2016

Childhood Sjögren syndrome presenting as acute brainstem encephalitis

Matsui, Y., Takenouchi, T., Narabayashi, A., Ohara, K., Nakahara, T. & Takahashi, T., 2016 1 1, : : Brain and Development. 38, 1, p. 158-162 5 p.

研究成果: Article

8 引用 (Scopus)

Cover Image, Volume 170A, Number 12, December 2016

Takenouchi, T., Yoshihashi, H., Sakaguchi, Y., Uehara, T., Honda, M., Takahashi, T., Kosaki, K. & Miyama, S., 2016 12 1, : : American journal of medical genetics. Part A. 170, 12, p. i

研究成果: Article

7 引用 (Scopus)
14 引用 (Scopus)

Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation

Takenouchi, T., Yoshihashi, H., Sakaguchi, Y., Uehara, T., Honda, M., Takahashi, T., Kosaki, K. & Miyama, S., 2016 12 1, : : American Journal of Medical Genetics, Part A. 170, 12, p. 3249-3252 4 p.

研究成果: Article

10 引用 (Scopus)
19 引用 (Scopus)
2015

Adult phenotype of Russell-Silver syndrome: A molecular support for Barker-Brenner's theory

Takenouchi, T., Awazu, M., Eggermann, T. & Kosaki, K., 2015 8 1, : : Congenital Anomalies. 55, 3, p. 167-169 3 p.

研究成果: Article

14 引用 (Scopus)
25 引用 (Scopus)

Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation

Takenouchi, T., Sakamoto, Y., Torii, C., Hata, K., Kosaki, R. & Kosaki, K., 2015 4 1, : : American Journal of Medical Genetics, Part A. 167, 4, p. 907-909 3 p.

研究成果: Article

1 引用 (Scopus)

Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation

Takenouchi, T., Yamaguchi, Y., Tanikawa, A., Kosaki, R., Okano, H. & Kosaki, K., 2015 2 1, : : Journal of Pediatrics. 166, 2, p. 483-486 4 p.

研究成果: Article

48 引用 (Scopus)
6 引用 (Scopus)
10 引用 (Scopus)