Hisahide Nishio

Detection of mutations in the COL4A5 gene in over 90% of male patients with x-linked Alport's syndrome by RT-PCR and direct sequencing

Yuji Inoue, Hisahide Nishio, Taku Shirakawa et al. · American Journal of Kidney Diseases · 1999 · 48 citations

Molecular Diagnostic Techniques, X-linked Alport, Mendelian Disorder +10

A Polymorphic Mutation, c.-3279T>G, in the UGT1A1 Promoter Is a Risk Factor for Neonatal Jaundice in the Malay Population

Surini Yusoff, Atsuko Takeuchi, Chitose Ashi et al. · Pediatric Research · 2010 · 25 citations · Full text

Ugt1a1 Promoter, Medicine, Genetics +10

Germ‐line mutation of<i> KCNQ2</i>, p.R213W, in a Japanese family with benign familial neonatal convulsion

Ahmad Hamim Sadewa, Teguh Haryo Sasongko, Gunadi Gunadi et al. · Pediatrics International · 2008 · 24 citations

Partial deletion of a dystrophin gene leads to exon skipping and to loss of an intra-exon hairpin structure from the predicted mRNA precursor

Masafumi Matsuo, Hisahide Nishio, Yoshihiko Kitoh et al. · Biochemical and Biophysical Research Communications · 1992 · 20 citations

Transcriptional Regulation, Developmental Biology, Dystrophin Gene +9