Mayumi Touyama
Publications by Year
Research Areas
Cerebral Palsy and Movement Disorders, Neonatal and fetal brain pathology, Genetic Syndromes and Imprinting, Neonatal Respiratory Health Research, Connective tissue disorders research
Most-Cited Works
- → Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion(2003)137 cited
- → Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features(2012)64 cited
- → Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome(2003)52 cited
- → Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency(2005)51 cited
- → Trends in the prevalence of cerebral palsy in children born between 1988 and 2007 in Okinawa, Japan(2016)42 cited
- → Long‐term survival of children with cerebral palsy in Okinawa, Japan(2013)19 cited
- [Cerebral palsy in twins in Okinawa].(2000)
- [Prevalence of cerebral palsy in Okinawa between 1995 and 2001].(2008)
- Trends in the prevalence and characteristics of unilateral spastic cerebral palsy in patients born between 1988 and 2007 in Okinawa, Japan.(2017)
- → Revascularization of the superior and inferior vena cava using ring inforced EPTFE graft.(1987)