Masaki Takagi - Publications

Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis-Case Series.

Journal: Journal of clinical medicine

Published: October 21, 2018

A Novel Mutation in NKX2-1 Shows Dominant-Negative Effects Only in the Presence of PAX8.

Journal: Thyroid : official journal of the American Thyroid Association

Published: June 09, 2018

A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.

Journal: Journal of human genetics

Published: March 24, 2018

A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2.

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Published: February 20, 2018

An association with hypopituitarism and 9q subtelomere deletion syndrome.

Journal: Clinical case reports

Published: December 10, 2017

Two novel mutations of COMP in Japanese boys with pseudoachondroplasia.

Journal: Human genome variation

Published: November 08, 2017

Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report.

Journal: BMC research notes

Published: October 10, 2017

Cyclic intravenous pamidronate in a very low-birthweight infant with osteogenesis imperfecta.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: September 20, 2017

Homozygous DUOXA2 mutation (p.Tyr138*) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature.

Journal: Endocrine journal

Published: June 20, 2017

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.

Journal: European journal of medical genetics

Published: May 15, 2017

Use of liothyronine without levothyroxine in the treatment of mild consumptive hypothyroidism caused by hepatic hemangiomas.

Journal: Endocrine journal

Published: April 20, 2017

Genetic defects in pediatric-onset adrenal insufficiency in Japan.

Journal: European journal of endocrinology

Published: January 13, 2017