Mitsuo Masuno
Kawasaki Medical School Hospital(JP)Kawasaki University of Medical Welfare(JP)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Congenital limb and hand anomalies, Connective tissue disorders research, Genetics and Neurodevelopmental Disorders, Chromosomal and Genetic Variations
Most-Cited Works
- → Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP(1995)1,217 cited
- → Haploinsufficiency of NSD1 causes Sotos syndrome(2002)655 cited
- → A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR(1999)225 cited
- → Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain(1997)205 cited
- Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.(1996)
- Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region.(1996)
- → Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome(2004)80 cited