• 742 Citations
  • 14 h-Index
20092020

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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 Jan 1, (Accepted/In press) In : Journal of Pediatrics.

Research output: Contribution to journalArticle

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 Dec 1, In : Human Genome Variation. 7, 1, 9.

Research output: Contribution to journalArticle

Open Access
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 Nov 1, In : Clinical Case Reports. 7, 11, p. 2059-2063 5 p.

Research output: Contribution to journalArticle

Open Access

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 Dec 1, In : Human Genome Variation. 6, 1, 25.

Research output: Contribution to journalArticle

Open Access

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 Mar 1, In : Therapeutic Hypothermia and Temperature Management. 9, 1, p. 76-85 10 p.

Research output: Contribution to journalArticle

Open Access
1 Citation (Scopus)

CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome

Uehara, T., Takenouchi, T., Yamaguchi, Y., Daimon, Y., Suzuki, H., Sakaguchi, Y. & Kosaki, K., 2019 Jan 1, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

1 Citation (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 Nov 1, In : Annals of Clinical and Translational Neurology. 6, 11, p. 2334-2339 6 p.

Research output: Contribution to journalArticle

Open Access

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 Dec 1, In : Scientific reports. 9, 1, 4418.

Research output: Contribution to journalArticle

Open Access
4 Citations (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 Mar, In : American Journal of Medical Genetics, Part A. 179, 3, p. 341-343 3 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers

Suzuki, H., Takenouchi, T., Uehara, T., Takasago, S., Ihara, S., Yoshihashi, H. & Kosaki, K., 2019 Aug, In : American Journal of Medical Genetics, Part A. 179, 8, p. 1628-1630 3 p.

Research output: Contribution to journalArticle

2018

Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution

Takenouchi, T., Sakamoto, Y., Sato, H., Suzuki, H., Uehara, T., Ohsone, Y. & Kosaki, K., 2018 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation

Kawaguchi, T., Yoshida, T., Hirahashi, J., Uehara, T., Takenouchi, T., Kosaki, K., Itoh, H. & Hayashi, M., 2018 Jul 10, (Accepted/In press) In : Nephron. p. 1-5 5 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
1 Citation (Scopus)

Growth pattern of Rahman syndrome

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

Research output: Contribution to journalArticle

2 Citations (Scopus)

Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis

Sakaguchi, Y., Uehara, T., Suzuki, H., Sakamoto, Y., Fujiwara, M., Kosaki, K. & Takenouchi, T., 2018 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects

Uehara, T., Takenouchi, T., Kosaki, R., Kurosawa, K., Mizuno, S. & Kosaki, K., 2018 Jan 1, (Accepted/In press) In : European Journal of Medical Genetics.

Research output: Contribution to journalArticle

2 Citations (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 Jun, In : American Journal of Medical Genetics, Part A. 176, 6, p. 1335-1340 6 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells

Harigai, R., Sakai, S., Nobusue, H., Hirose, C., Sampetrean, O., Minami, N., Hata, Y., Kasama, T., Hirose, T., Takenouchi, T., Kosaki, K., Kishi, K., Saya, H. & Arima, Y., 2018 Dec 1, In : Scientific reports. 8, 1, 6069.

Research output: Contribution to journalArticle

5 Citations (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 Aug 10, In : Human Genome Variation. 4, 17033.

Research output: Contribution to journalArticle

Open Access

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1

Takenouchi, T., Inaba, M., Uehara, T., Takahashi, T., Kosaki, K. & Mizuno, S., 2017 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

6 Citations (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 May 1, In : American journal of medical genetics. Part A. 173, 5, p. i

Research output: Contribution to journalArticle

Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype

Takenouchi, T., Kuchikata, T., Yoshihashi, H., Fujiwara, M., Uehara, T., Miyama, S., Yamada, S. & Kosaki, K., 2017 May 1, In : American Journal of Medical Genetics, Part A. 173, 5, p. 1353-1357 5 p.

Research output: Contribution to journalArticle

2 Citations (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) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

12 Citations (Scopus)
4 Citations (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 Oct 1, In : American Journal of Medical Genetics, Part A. 173, 10, p. 2821-2825 5 p.

Research output: Contribution to journalArticle

3 Citations (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) In : Brain and Development.

Research output: Contribution to journalArticle

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 Jan 4, In : Scientific Reports. 7, 39508.

Research output: Contribution to journalArticle

7 Citations (Scopus)

Truncating mutation in CSNK2B and myoclonic epilepsy

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

Research output: Contribution to journalArticle

2 Citations (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. & 31 others, 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 Jun 1, In : American Journal of Human Genetics. 100, 6, p. 907-925 19 p.

Research output: Contribution to journalArticle

32 Citations (Scopus)
2016

Childhood Sjögren syndrome presenting as acute brainstem encephalitis

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

Research output: Contribution to journalArticle

7 Citations (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 Dec 1, In : American journal of medical genetics. Part A. 170, 12, p. i

Research output: Contribution to journalArticle

5 Citations (Scopus)

Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia

Takenouchi, T., Okamoto, N., Ida, S., Uehara, T. & Kosaki, K., 2016 Apr 1, In : American Journal of Medical Genetics, Part A. 170, 4, p. 852-855 4 p.

Research output: Contribution to journalArticle

13 Citations (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 Dec 1, In : American Journal of Medical Genetics, Part A. 170, 12, p. 3249-3252 4 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)
18 Citations (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 Aug 1, In : Congenital Anomalies. 55, 3, p. 167-169 3 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)
21 Citations (Scopus)

Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation

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

Research output: Contribution to journalArticle

1 Citation (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 Feb 1, In : Journal of Pediatrics. 166, 2, p. 483-486 4 p.

Research output: Contribution to journalArticle

44 Citations (Scopus)

Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis

Takenouchi, T., Kosaki, R., Nakabayashi, K., Hata, K., Takahashi, T. & Kosaki, K., 2015 Feb 1, In : Pediatric Neurology. 52, 2, p. 226-229 4 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)

Porencephaly in a fetus and HANAC in her father: Variable expression of COL4A1 mutation

Takenouchi, T., Ohyagi, M., Torii, C., Kosaki, R., Takahashi, T. & Kosaki, K., 2015 Jan 1, In : American Journal of Medical Genetics, Part A. 167, 1, p. 156-158 3 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)

Therapeutic hypothermia achieves neuroprotection via a decrease in acetylcholine with a concurrent increase in carnitine in the neonatal hypoxia-ischemia

Takenouchi, T., Sugiura, Y., Morikawa, T., Nakanishi, T., Nagahata, Y., Sugioka, T., Honda, K., Kubo, A., Hishiki, T., Matsuura, T., Hoshino, T., Takahashi, T., Suematsu, M. & Kajimura, M., 2015 May 5, In : Journal of Cerebral Blood Flow and Metabolism. 35, 5, p. 794-805 12 p.

Research output: Contribution to journalArticle

16 Citations (Scopus)
2014
16 Citations (Scopus)

Cilostazol strengthens the endothelial barrier of postcapillary venules from the rat mesentery in situ

Sugiura, Y., Morikawa, T., Takenouchi, T., Suematsu, M. & Kajimura, M., 2014 Oct, In : Phlebology. 29, 9, p. 594-599 6 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)