Shinichi Nakashima

Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements

T. Ogata, A. Ohishi, F. Takada, 2014, Journal of Human Genetics.

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients

T. Ogata, G. Nishimura, T. Hasegawa, 2014, Clinical endocrinology.

Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development.

T. Ogata, Yoriko Watanabe, Hiroyuki Ono, 2013, Endocrine journal.

Silver–Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C

T. Ogata, T. Kikuchi, K. Nagasaki, 2014, Journal of Human Genetics.

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

S. Takada, T. Ogata, K. Yoshiura, 2014, Orphanet Journal of Rare Diseases.

Identification and functional characterization of a novel PAX8 mutation (p.His39Pro) causing familial thyroid hypoplasia

T. Ogata, Satoshi Narumi, Y. Fujisawa, 2020, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms

T. Ogata, K. Ozono, Hiroyuki Ono, 2020, Frontiers in Endocrinology.

The lipid fraction of human milk initiates adipocyte differentiation in 3T3-L1 cells.

T. Ogata, Y. Nakagawa, E. Nagata, 2013, Early human development.

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

T. Ogata, H. Saitsu, K. Yanagi, 2018, Scientific Reports.

TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia

K. Nakayama, T. Ogata, Y. Matsubara, 2014, PloS one.

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

T. Ogata, H. Saitsu, K. Yanagi, 2018, Scientific Reports.

Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: implications for hormonal diagnosis

H. Saitsu, M. Fukami, S. Sano, 2023, The Journal of Steroid Biochemistry and Molecular Biology.