Takeshima Yasuhiro | Department of Hematology and Oncology, Hyogo Children's Hospital

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著作論文

ベトナム人脊髄性筋萎縮症患者におけるSMN2遺伝子量ならびにNAIP遺伝子量について
Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma
A 2-bp deletion in exon 74 of the dystrophin gene does not clearly induce muscle weakness
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
Comparative study on deletions of the dystrophin gene in three Asian populations
A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5
Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient
Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene : a novel source of genomic instability
A simple explanation for a case of incompatibility with the reading frame theory in Duchenne muscular dystrophy: failure to detect an aberrant restriction fragment in Southern blot analysis
Intraperitoneal administration of phosphorothioate antisense oligodeoxynucleotide against splicing enhancer sequence induced exon skipping in dystrophin mRNA expressed in mdx skeletal muscle
A novel approach to identify Duchenne muscular dystrophy patients for aminoglycoside antibiotics therapy
先天性全身性脂肪萎縮症の2乳児例
Epigallocatechin gallate inhibits sphere formation of neuroblastoma BE(2)-C cells
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
Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines
A Homozygous Mutation in UGT1A1 Exon 5 May Be Responsible for Persistent Hyperbilirubinemia in a Japanese Girl with Gilbert's Syndrome
Utility of Multiplex PCR in Detecting the Causative Pathogens for Pediatric Febrile Neutropenia
Place of Death of Pediatric Cancer Patients in a Single Institute during 7 Years
Post-ischemic Administration of Vascular Endothelial Growth Factor Inhibitor in a Rat Model of Cerebral Venous Infarction
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
Post-ischemic Administration of Vascular Endothelial Growth Factor Inhibitor in a Rat Model of Cerebral Venous Infarction

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