Mayumi Touyama

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

Life Sciences, Genetics, Molecular Genetics +14

Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

Yuriko Yoneda, Hirotomo Saitsu, Mayumi Touyama et al. · Journal of Human Genetics · 2012 · 65 citations

Life Sciences, Genetics, Molecular Biology +9

Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome

Noriko Miyake, Naohiro Kurotaki, Hirobumi Sugawara et al. · The American Journal of Human Genetics · 2003 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

Naohiro Kurotaki, Joseph Shen, Mayumi Touyama et al. · Genetics in Medicine · 2005 · 51 citations

Life Sciences, Genetics, Molecular Genetics +14

Trends in the prevalence of cerebral palsy in children born between 1988 and 2007 in Okinawa, Japan

Mayumi Touyama, Jun Touyama, Satoshi Toyokawa et al. · Brain and Development · 2016 · 43 citations

Medicine, Child Health, Pediatrics +3