Faculty Information : Hamamatsu University School of Medicine

Basic information on teaching staff

Licenses and qualifications

[1]. 2010/4/20 医師免許

Research Areas

Life Science - Genetics

Life Science - Metabolism and endocrinology

Life Science - Embryonic medicine and pediatrics

Research keywords

IGF2

NANS

Whole exome sequencing

Research Projects (Competitive Research Funds)

[1]. NANS変異患者の臨床的特徴および骨異形成性低身長発症機序の解明

Research activities

Papers

[1]. Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias.
The Journal of clinical endocrinology and metabolism （2023/） [Reviewed] Yes [DOI]

[2]. Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG).
Scientific reports [Volume]12 [Issue]1 [Page]17079 （2022/） [Reviewed] Yes [DOI]

[3]. ACAN biallelic variants in a girl with severe idiopathic short stature.
Journal of human genetics （2022/） [Reviewed] Yes [DOI]

[4]. Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata.
Journal of human genetics [Volume]67 [Issue]5 [Page]303 -306 （2022/） [Reviewed] Yes [DOI] [Repository]

[5]. Combined pituitary hormone deficiency in a patient with an missense variant: case report and literature review.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology [Volume]31 [Issue]3 [Page]172 -177 （2022/） [Reviewed] Yes [DOI]

5/20 View details...

Research presentations

[1]. 2025/2/1 Insulin resistant diabetes mellitus in a girl with mild Rabson-Mendenhall syndrome: efficacy of sodium glucose co-transporter 2 inhibitor 第47回日本小児遺伝学会

[2]. 2024/11/ Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: implications for hormonal diagnosis 62nd Annual ESPE Meeting

[3]. 2024/10/1 Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature 第57回日本小児内分泌学会学術集会

[4]. 2024/6/1 Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature 第97回日本内分泌学会学術総会

[5]. 2023/12/ ESR1遺伝子イントロン6の微細欠失は停留精巣・尿道下裂の発症感受性因子である第46回日本小児遺伝学会学術集会

5/19 View details...