Yamasaki Takemi | Hyogo Prefectural 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
Clinical Types, Molecular Genetic Diagnosis & Genetic : clinical Correlation in Patients with Spinal Muscular Atrophy
Deletion of the SMN1 and NAIP Genes in Vietnamese Patients with Spinal Muscular Atrophy
Molecular Genetic Analyses of Five Vietnamese Patients with Spinal Musucular Atrophy
Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation
Molecular Diagnosis, Correlation of Clinical and Deletion Data in Duchenne Muscular Dystrophy
Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma
良性家族性新生児痙攣を有する日本人一家系内の生殖細胞に生じたKCNQ2遺伝子変異(p. R213W)
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
Nobel cryptic exons identified in introns 2 and 3 of the human dystrophin gene with duplication of exons 8-11
Prenatal diagnosis of a Japanese family at risk for tay-sachs disease : application of a fluorescent competitive allele-specific polymerase chain reaction (pcr) method
Automatic detection of immature platelets for decision making regarding platelet transfusion indications for pediatric patients
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
Molecular genetics of spinal muscular atrophy : contribution of the NAIP gene to clinical severity
Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient
Purine-rich exon sequences are not necessarily splicing enhancer sequence in the dystrophin gene
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
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
Intraperitoneal administration of phosphorothioate antisense oligodeoxynucleotide against splicing enhancer sequence induced exon skipping in dystrophin mRNA expressed in mdx skeletal muscle
SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy
A Homozygous Mutation in UGT1A1 Exon 5 May Be Responsible for Persistent Hyperbilirubinemia in a Japanese Girl with Gilbert’s Syndrome
Persistent detection of a novel MLL-SACM1L rearrangement in the absence of leukemia
Utility of Multiplex PCR in Detecting the Causative Pathogens for Pediatric Febrile Neutropenia
先天性全身性脂肪萎縮症の2乳児例
Place of Death of Pediatric Cancer Patients in a Single Institute during 7 Years

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