Rchr
J-GLOBAL ID：200901055580724911
Update date: Oct. 02, 2022
Yasutsugu Chinen
チネン ヤスツグ | Yasutsugu Chinen
Affiliation and department：
University of the Ryukyus Graduate School of Medicine
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Detailed information
Job title：
Associate Professor
Research field (1)：
Fetal medicine/Pediatrics
Research keywords (5)：
先天代謝異常
, 先天異常
, Chromosomal aberration
, Congenital multiple anomalies
, Inherited Metabolic Diseases
Research theme for competitive and other funds (5)：
口腔・顔・指(OFD)症候群II型の遺伝子解析
プロピオン酸血症の遺伝子解析と肝移植後カルニチン値変化
ムコ多糖症(IIIb)の遺伝子解析と予後
Oral-Facial-Digital Disease Type 1(OFD1)
Mucopolysaccharidosis (MPS)
Papers (5)：
Chinen Yasutsugu. A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation. Human Genome Variation. 2019. 6. 23. 23-23
Chinen Yasutsugu. Mild prominence of the Sylvian fissure in a BainbridgeRopers syndrome patient with a novel frameshift variant in ASXL3. Clinical Case Reports. 2017
Chinen Yasutsugu. A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels. Human Genome Variation. 2017. 4. 17002
Chinen Yasutsugu. Isovaleric acidemia: Therapeutic response to supplementation with glycine, L-carnitine, or both in combination and a 10-year follow-up case study. Molecular Genetics and Metabolism Reports. 2017. 11. 2-5
Chinen Yasutsugu. Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA. Molecular Genetics and Metabolism Reports. 2014. 1. 31-41
MISC (34)：
Y Chinen, T Tohma, Y Izumikawa, H Uehara, T Ohta. Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. JOURNAL OF HUMAN GENETICS. 2005. 50. 7. 357-359
Y Chinen, T Tohma, Y Izumikawa, H Uehara, T Ohta. Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. JOURNAL OF HUMAN GENETICS. 2005. 50. 7. 357-359
Yanagi. K, Kaname. T, Chinen. Y, Naritomi. K. Novel alternative splicing of human faciogenital dysplasia 1 gene. Congenit Anom (Kyoto). 2004. 44. 3. 137-141
Yanagi. K, Kaname. T, Chinen. Y, Naritomi. K. Novel alternative splicing of human faciogenital dysplasia 1 gene. Congenit Anom (Kyoto). 2004. 44. 3. 137-141
T Matsuura, T Tamura, Y Chinen, T Ohta. A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome. CLINICAL GENETICS. 2002. 62. 3. 255-256
ｍore...
Professional career (1)：
Doctor of Medical Science (University of the Ryukyus)
Work history (4)：
2010/04/01 - - , 琉球大学 医学研究科 講師
2010/04/01 - - , University of the Ryukyus, Graduate School of Medicine, Assistant Professor
2006/04/01 - - , 琉球大学 医学部附属病院 講師
2006/04/01 - - , University of the Ryukyus, Faculty of Medicine, University Hospital, Assistant Professor
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