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Fingerprint Dive into the research topics where Tomoko Uehara is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 3 Similar Profiles
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Genes Medicine & Life Sciences
Exome Medicine & Life Sciences
Haploinsufficiency Medicine & Life Sciences
Caenorhabditis elegans Medicine & Life Sciences
Hirschsprung Disease Medicine & Life Sciences

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Research Output 2011 2019

  • 87 Citations
  • 5 h-Index
  • 35 Article
  • 2 Letter
  • 2 Review article

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 Jan 1, (Accepted/In press) In : Clinical Case Reports.

Research output: Contribution to journalArticle

Open Access
Cleft Lip
Cleft Palate
Exons
Mutation
Autistic Disorder

Acromegaly caused by a somatotroph adenoma in patient with neurofibromatosis type 1

Hozumi, K., Fukuoka, H., Odake, Y., Takeuchi, T., Uehara, T., Sato, T., Inoshita, N., Yoshida, K., Matsumoto, R., Bando, H., Hirota, Y., Iguchi, G., Taniguchi, M., Otsuki, N., Nishigori, C., Kosaki, K., Hasegawa, T., Ogawa, W. & Takahashi, Y., 2019 Jan 1, In : Endocrine journal. 66, 10, p. 853-857 5 p.

Research output: Contribution to journalArticle

Open Access
Growth Hormone-Secreting Pituitary Adenoma
Neurofibromatosis 1
Acromegaly
Neurofibromatosis 1 Genes
Follicular Adenocarcinoma

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
Megalencephaly
Phosphoric Monoester Hydrolases
Multiple Hamartoma Syndrome
Mutation
Tumors
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

Phenotype
Carbon
Genes
Intellectual Disability
Micrognathism

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

Uehara, T., Tsuchihashi, T., Yamada, M., Suzuki, H., Takenouchi, T. & Kosaki, K., 2019 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalLetter

Haploinsufficiency
Neurodevelopmental Disorders