Satoshi Ishikiriyama

Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3)

Satoshi Ishikiriyama, Hidefumi Tonoki, Yoshitaka Shibuya et al. · American Journal of Medical Genetics · 1989 · 144 citations

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

Naohiro Kurotaki, Naoki Harada, Osamu Shimokawa et al. · Human Mutation · 2003 · 137 citations

Down Syndrome, Sotos Syndrome, Developmental Anomaly +14

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

Tetsuya Niihori, Yoko Aoki, Hirofumi Ohashi et al. · Journal of Human Genetics · 2005 · 131 citations · Full text

Signal Transduction, Signaling Pathway, Genetic Disorder +10

The Wiedemann‐Beckwith syndrome: Pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity

Norio Niikawa, Satoshi Ishikiriyama, Satoshi Takahashi et al. · American Journal of Medical Genetics · 1986 · 96 citations

Clinical and cytogenetic studies of the Prader-Willi syndrome: Evidence of phenotype-karyotype correlation

Norio Niikawa, Satoshi Ishikiriyama · Human Genetics · 1985 · 71 citations

Mendelian Disorder, Genetic Disorder, Genetics +9