Hideki Uchikawa

Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome

Katsunori Fujii, Hirofumi Ohashi, M. Suzuki et al. · Familial Cancer · 2013 · 84 citations

Ptch2 Gene, Genetics, Pathology +5

Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays

Kazuaki Nagao, Naoyuki Togawa, Katsunori Fujii et al. · Human Molecular Genetics · 2005 · 56 citations · Full text

High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome

Katsunori Fujii, Shumpei Ishikawa, Hideki Uchikawa et al. · Human Genetics · 2007 · 25 citations

Chromatin, Submicroscopic Deletions, Sub-kilobase Resolution Reveals +10

Brain morphology in children with nevoid basal cell carcinoma syndrome

Tadashi Shiohama, Katsunori Fujii, Toshiyuki Miyashita et al. · American Journal of Medical Genetics Part A · 2017 · 23 citations

Brain- and heart-specific Patched-1 containing exon 12b is a dominant negative isoform and is expressed in medulloblastomas

Hideki Uchikawa, Masashi Toyoda, Kazuaki Nagao et al. · Biochemical and Biophysical Research Communications · 2006 · 21 citations

Neuro-oncology, Dominant Negative Isoform, Neuroanatomy +5