小崎 健次郎

論文

• Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation

  Tomoko Uehara, Takashi Ishige, Shigeto Hattori, Hiroshi Yoshihashi, Michinori Funato, Yu Yamaguchi, Toshiki Takenouchi, Kenjiro Kosaki

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A 176(6) 1335-1340 2018年6月 査読有り
• A paradoxical thrombogenic mutation in factor II at the target site of arthropod bleeding toxin

  小崎 健次郎

  European Journal of Medical Genetics S1769-7212(18) 30072-30077 2018年6月 査読有り
• Development of monomorphic ventricular tachycardia in a patient with fever-induced Brugada syndrome

  小崎 健次郎

  Journal of Arrhythmia 34(4) 465-468 2018年6月 査読有り
• Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects

  Tomoko Uehara, Toshiki Takenouchi, Rika Kosaki, Kenji Kurosawa, Seiji Mizuno, Kenjiro Kosaki

  EUROPEAN JOURNAL OF MEDICAL GENETICS 61(5) 243-247 2018年5月 査読有り
• Successful Total Pericardiectomy for Constrictive Pericarditis in the First Series of Japanese Patients With Mulibrey Nanism

  小崎 健次郎

  Canadian Journal of Cardiology 34(5) 690e5-690e 2018年5月 査読有り
• Novel &ITBICD2 &ITmutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2

  Mieko Yoshioka, Naoya Morisada, Daisaku Toyoshima, Hajime Yoshimura, Hisahide Nishio, Kazumoto Iijima, Yasuhiro Takeshima, Tomoko Uehara, Kenjiro Kosaki

  BRAIN & DEVELOPMENT 40(4) 343-347 2018年4月 査読有り
• Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells

  小崎 健次郎

  Scientific Reports 8(1) 6069 2018年4月 査読有り
• Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese

  小崎 健次郎

  Nature Communications 9(1) 1631-1631 2018年4月
• Growth pattern of Rahman syndrome.

  Toshiki Takenouchi, Tomoko Uehara, Kenjiro Kosaki, Seiji Mizuno

  American journal of medical genetics. Part A 176(3) 712-714 2018年3月 査読有り
• Large number of cutaneous neurofibromas beyond age-appropriate incidence in a patient with a large deletion of NF1

  Yuichi Yoshida, Yuko Ehara, Kenjiro Kosaki, Osamu Yamamoto

  Journal of Dermatology 45(3) 363-364 2018年3月1日 査読有り
• Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms

  Rika Kosaki, Reiko Horikawa, Eriko Fujii, Kenjiro Kosaki

  American Journal of Medical Genetics, Part A 176(2) 404-408 2018年2月1日 査読有り
• Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.

  Toshiki Takenouchi, Mie Inaba, Tomoko Uehara, Takao Takahashi, Kenjiro Kosaki, Seiji Mizuno

  American journal of medical genetics. Part A 176(2) 431-437 2018年2月 査読有り
• Natural course and characteristics of cutaneous neurofibromas in neurofibromatosis 1

  Yuko Ehara, Osamu Yamamoto, Kenjiro Kosaki, Yuichi Yoshida

  Journal of Dermatology 45(1) 53-57 2018年1月1日 査読有り
• Targeted reversion of induced pluripotent stem cells from patients with human cleidocranial dysplasia improves bone regeneration in a rat calvarial bone defect model

  小崎 健次郎

  Stem Cell Research and Therapy 9(1) 12 2018年1月 査読有り
• Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation.

  Takahisa Kawaguchi, Tadashi Yoshida, Junichi Hirahashi, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Hiroshi Itoh, Matsuhiko Hayashi

  Nephron 140(1) 74-78 2018年 査読有り
• CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations.

  小崎 健次郎

  Elife. 2017年11月28日 査読有り
• Truncating mutation in CSNK2B and myoclonic epilepsy

  Yuri Sakaguchi, Tomoko Uehara, Hisato Suzuki, Kenjiro Kosaki, Toshiki Takenouchi

  HUMAN MUTATION 38(11) 1611-1612 2017年11月 査読有り
• Clinical severity in Japanese patients with neurofibromatosis 1 based on DNB classification

  Yuko Ehara, Osamu Yamamoto, Kenjiro Kosaki, Yuichi Yoshida

  JOURNAL OF DERMATOLOGY 44(11) 1262-1267 2017年11月
• Expansion of the phenotype of Kosaki overgrowth syndrome

  Mari Minatogawa, Toshiki Takenouchi, Yu Tsuyusaki, Fuminori Iwasaki, Tomoko Uehara, Kenji Kurosawa, Kenjiro Kosaki, Cynthia J. Curry

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A 173(9) 2422-2427 2017年9月 査読有り
• A genome-wide association analysis identifies PDE1A vertical bar DNAJC10 locus on chromosome 2 associated with idiopathic pulmonary arterial hypertension in a Japanese population

  Mai Kimura, Yuichi Tamura, Christophe Guignabert, Makoto Takei, Kenjiro Kosaki, Nobuhiro Tanabe, Koichiro Tatsumi, Tsutomu Saji, Toru Satoh, Masaharu Kataoka …

  ONCOTARGET 8(43) 74917-74926 2017年9月