• 219 Citations
  • 7 h-Index
20082019
If you made any changes in Pure these will be visible here soon.

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

Ehlers-Danlos Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Joint Instability Medicine & Life Sciences
Contracture Medicine & Life Sciences
Pallister-Hall Syndrome Medicine & Life Sciences
Loeys-Dietz Syndrome Medicine & Life Sciences
Periventricular Nodular Heterotopia Medicine & Life Sciences
Muscle Hypotonia Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2008 2019

  • 219 Citations
  • 7 h-Index
  • 13 Article

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review

Yamaguchi, T., Takano, K., Inaba, Y., Morikawa, M., Motobayashi, M., Kawamura, R., Wakui, K., Nishi, E., Hirabayashi, S. I., Fukushima, Y., Kato, H., Takahashi, J. & Kosho, T., 01-06-2019, In : American Journal of Medical Genetics, Part A. 179, 6, p. 948-957 10 p.

Research output: Contribution to journalArticle

Arthrogryposis
Proprioception
Exome
H-Reflex
Abnormal Reflexes

Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment

Nishi, E., Takasugi, M., Kawamura, R., Shibuya, S., Takamizawa, S., Hiroma, T., Nakamura, T. & Kosho, T., 01-09-2018, In : American Journal of Medical Genetics, Part A. 176, 9, p. 1941-1949 9 p.

Research output: Contribution to journalArticle

Pediatrics
Thoracic Surgery
Natural History
Congenital Heart Defects
Therapeutics

Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter

Morokawa, H., Kamiya, M., Wakui, K., Kobayashi, M., Kurata, T., Matsuda, K., Kawamura, R., Kanno, H., Fukushima, Y., Nakazawa, Y. & Kosho, T., 01-12-2018, In : Human Genome Variation. 5, 1, 6.

Research output: Contribution to journalArticle

Open Access
Myelodysplastic Syndromes
Microarrays
Genes
Association reactions
Hypertrichosis
1 Citation (Scopus)

Peripartum iliac arterial aneurysm and rupture in a patient with vascular ehlers-danlos syndrome diagnosed by next-generation sequencing

Koitabashi, N., Yamaguchi, T., Fukui, D., Nakano, T., Umeyama, A., Toda, K., Funada, R., Ishikawa, M., Kawamura, R., Okada, K., Hatamochi, A., Kosho, T. & Kurabayashi, M., 01-01-2018, In : International heart journal. 59, 5, p. 1180-1185 6 p.

Research output: Contribution to journalArticle

Iliac Aneurysm
Ehlers-Danlos Syndrome
Peripartum Period
Blood Vessels
Rupture
4 Citations (Scopus)

CTCF deletion syndrome: Clinical features and epigenetic delineation

Hori, I., Kawamura, R., Nakabayashi, K., Watanabe, H., Higashimoto, K., Tomikawa, J., Ieda, D., Ohashi, K., Negishi, Y., Hattori, A., Sugio, Y., Wakui, K., Hata, K., Soejima, H., Kurosawa, K. & Saitoh, S., 01-12-2017, In : Journal of Medical Genetics. 54, 12, p. 836-842 7 p.

Research output: Contribution to journalArticle

Haploinsufficiency
DNA Methylation
Epigenomics
X Chromosome Inactivation
Binding Sites