YAGI Mariko | Department of Clinical Evaluation of Pharmacotherapy, Kobe University Graduate School of Medicine

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著作論文

Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma
A Strong Exonic Splicing Enhancer in Dystrophin Exon 19 Achieve Proper Splicing Without an Upstream Polypyrimidine Tract
Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy
Mutation Analysis of the Ornithine Transcarbamylase (OTC) Gene in Five Japanese OTC Deficiency Patients Revealed Two Known and Three Novel Mutations Including a Deep Intronic Mutation
Mosaic Tetrasomy 9p Case with the Phenotype Mimicking Klinefelter Syndrome and Hyporesponse of Gonadotropin-Stimulated Testosterone Production
Intraperitoneal administration of phosphorothioate antisense oligodeoxynucleotide against splicing enhancer sequence induced exon skipping in dystrophin mRNA expressed in mdx skeletal muscle
先天性全身性脂肪萎縮症の2乳児例
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene
Rapid Progression of Neuromuscular Disorder Related Cardiomyopathy in a Young Patient
Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28

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