Ogata, Tsutomu

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A., Muroya, K., Binder, G., Kirsch, S., Winkelmann, M., et al. (1997) · Nature Genetics

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesGrowth Hormone and Insulin-like Growth Factors

Cited by 943

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients

Fukami, M., Horikawa, R., Nagai, T., Tanaka, T., Naiki, Y., Sato, N., Okuyama, T., Nakai, H., Soneda, S., Tachibana, K., et al. (2005) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 155

Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone

Homma, K., Hasegawa, T., Nagai, T., Adachi, M., Horikawa, R., Fujiwara, I., Tajima, T., Takeda, R., Fukami, M., & Ogata, T. (2006) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 153

Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients

Fukami, M., Nishimura, G., Homma, K., Nagai, T., Hanaki, K., Uematsu, A., Ishii, T., Numakura, C., Sawada, H., Nakacho, M., et al. (2009) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 117

Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development

Fukami, M., Homma, K., Hasegawa, T., & Ogata, T. (2013) · Developmental Dynamics

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 114

SHOX haploinsufficiency as a cause of syndromic and nonsyndromic short stature

Fukami, M., Seki, A., & Ogata, T. (2016) · Molecular Syndromology

Connective tissue disorders researchGrowth Hormone and Insulin-like Growth Factors

Cited by 97

Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis

Fukami, M., Hasegawa, T., Horikawa, R., Ohashi, T., Nishimura, G., Homma, K., & Ogata, T. (2006) · Pediatric Research

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 79

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism

Hiraide, T., Nakashima, M., Yamoto, K., Fukuda, T., Kato, M., Ikeda, H., Sugie, Y., Aoto, K., Kaname, T., Nakabayashi, K., et al. (2018) · Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., Conant, A., Bent, S. J., Gripp, K. W., Hahn, A., et al. (2017) · neurogenetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 48

Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia

Naiki, Y., Miyado, M., Horikawa, R., Katsumata, N., Onodera, M., Pang, S., Ogata, T., & Fukami, M. (2016) · Endocrine Journal

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 40

Lack of Mutations in P450scc Gene (CYP11A) in Six Japanese Patients with Congenital Lipoid Adrenal Hyperplasia

Fukami, M., Sato, S., Ogata, T., & Matsuo, N. (1995) · Clinical Pediatric Endocrinology

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 17

Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites

Koyama, Y., Homma, K., Fukami, M., Miwa, M., Ikeda, K., Ogata, T., Murata, M., & Hasegawa, T. (2016) · Clinical Pediatric Endocrinology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 13

Mutation analysis of FGFR1‐3 in 11 Japanese patients with syndromic craniosynostoses

Ohishi, A., Nishimura, G., Kato, F., Ono, H., Maruwaka, K., Ago, M., Suzumura, H., Hirose, E., Uchida, Y., Fukami, M., et al. (2017) · American Journal of Medical Genetics Part A

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 11