Masaki Takagi
Keio University(JP)Gifu Prefectural Gifu Kita Senior High School(JP)
Publications by Year
Research Areas
Connective tissue disorders research, Bone health and treatments, Growth Hormone and Insulin-like Growth Factors, Genetics and Neurodevelopmental Disorders, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Genetic defects in pediatric-onset adrenal insufficiency in Japan(2017)59 cited
- → Hypertension is a characteristic complication of X-linked hypophosphatemia(2016)43 cited
- → A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta(2012)36 cited
- → Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism(2012)32 cited
- → Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis—Case Series(2018)30 cited
- → Discovery of a Potent and Short−Acting Oral Calcilytic with a Pulsatile Secretion of Parathyroid Hormone(2010)27 cited
- → A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3(2013)25 cited
- → A family of pseudohypoparathyroidism type Ia with an 850‐kb submicroscopic deletion encompassing the whole GNAS locus(2011)24 cited
- → A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum(2013)22 cited
- → A recurrent mutation in the 5′‐UTR of IFITM5 causes osteogenesis imperfecta type V(2013)20 cited