Publications by authors named "Ryojun Takeda"

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Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes.
Noriko Kubota, Ryojun Takeda, Jun Kobayashi, Eiko Hidaka, Eriko Nishi

Mol Syndromol· October 2023

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Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
Ryojun Takeda, Tomomi Yamaguchi, Shujiro Hayashi, Shinichirou Sano, Hiroshi Kawame

Am J Med Genet A· September 2022

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Expanding the phenotypic spectrum of ARCN1-related syndrome.
Alyssa L Ritter, Jessica Gold, Hiroshi Hayashi, Amanda M Ackermann, Stephanie Hanke, Ryojun Takeda

Genet Med· June 2022

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White matter abnormality in Jacobsen syndrome assessed by serial MRI.
Shuhei Fujino, Hiroshi Yoshihashi, Ryojun Takeda, Satoshi Ihara, Sahoko Miyama

Brain Dev· September 2020

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Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Sarah K Fiordaliso, Aiko Iwata-Otsubo, Alyssa L Ritter, Mathieu Quesnel-Vallières, Katsunori Fujiki, Ryojun Takeda

Am J Hum Genet· November 2019

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An association with hypopituitarism and 9q subtelomere deletion syndrome.
Shinji Higuchi, Masaki Takagi, Ryojun Takeda, Hiroshi Yoshihashi, Satoshi Narumi

Clin Case Rep· December 2018

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Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis-Case Series.
Tsukasa Kobayashi, Yukio Nakamura, Takako Suzuki, Tomomi Yamaguchi, Ryojun Takeda

J Clin Med· November 2018

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Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.
Ryojun Takeda, Masaki Takagi, Hiroyuki Shinohara, Hiroshi Futagawa, Satoshi Narumi

Eur J Med Genet· December 2017

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Hypertension is a characteristic complication of X-linked hypophosphatemia.
Yoshie Nakamura, Masaki Takagi, Ryojun Takeda, Kentaro Miyai, Yukihiro Hasegawa

Endocr J· March 2017

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A case of transient neonatal diabetes due to a novel mutation in .
Masaki Takagi, Ryojun Takeda, Hiroko Yagi, Daisuke Ariyasu, Ryuji Fukuzawa

Clin Pediatr Endocrinol· October 2016

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A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide.
Ryojun Takeda, Masaki Takagi, Kentaro Miyai, Hiroyuki Shinohara, Hiroko Yagi

Clin Pediatr Endocrinol· October 2015

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A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2.
Masaki Takagi, Hiroko Yagi, Yoshie Nakamura, Hiroyuki Shinohara, Ryojun Takeda

Clin Pediatr Endocrinol· July 2015

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[Updates on rickets and osteomalacia: pathogenesis and pathophysiology of rickets].
Yukihiro Hasegawa, Kentaro Miyai, Ryojun Takeda

Clin Calcium· October 2013

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[Epidemiological and virological study of aseptic meningitis in children caused by echovirus type 30 in Fukushima in 2004].
Ryojun Takeda, Kenji Nemoto, Ayumi Matsumoto, Masatoki Sato, Kouichi Hashimoto

Kansenshogaku Zasshi· May 2008

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