Kiyoshi Imaizumi

Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki, Kiyoshi Imaizumi, Naoki Harada et al. · Nature Genetics · 2002 · 655 citations

Clinical Disorders, Sotos Syndrome, Neurological Disorder +5

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR

Takeo Kubota, Shigeaki Nonoyama, Hidefumi Tonoki et al. · Human Genetics · 1999 · 225 citations

Chromatin, Chromatin Structure, Medicine +12

Dispermic origin of XY hydatidiform moles

Koso Ohama, Tadashi Kajii, Etsuji Okamoto et al. · Nature · 1981 · 172 citations

Dispermic Origin, X-ray Diffraction, Hydrogen +1

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

Lisa A. Schimmenti, Heather E. Cunliffe, Leslie A. McNoe et al. · PubMed · 1997 · 147 citations

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations

Ken Inoue, Hitoshi Osaka, Kiyoshi Imaizumi et al. · Annals of Neurology · 1999 · 131 citations

Genetics, Pathology, Molecular Genetics +17