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Maki Igarashi

Cancer genetics and genomics of human FOX family genes
2012 · Masuko Katoh, Maki Igarashi, et al. · Cancer Letters · 410
Rapid generation of mouse models with defined point mutations by the CRISPR/Cas9 system
2014 · Masafumi Inui, Mami Miyado, et al. · Scientific Reports · 233
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Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues
2016 · Maki Igarashi, Kei Takasawa, et al. · Human Mutation · 66
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Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism
2014 · Yoko Izumi, Erina Suzuki, et al. · Fertility and Sterility · 49
Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients
2015 · M. Kon, E. Suzuki, et al. · Human Reproduction · 46
Paradoxical gain‐of‐function mutant of the G‐protein‐coupled receptor PROKR 2 promotes early puberty
2017 · Maki Fukami, Erina Suzuki, et al. · Journal of Cellular and Molecular Medicine · 31
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MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency
2018 · Hirohito Shima, Mie Hayashi, et al. · PLoS ONE · 30
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Gain‐of‐function mutations in G‐protein–coupled receptor genes associated with human endocrine disorders
2017 · Maki Fukami, Erina Suzuki, et al. · Clinical Endocrinology · 25
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Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX 9
2015 · Yuko Katoh‐Fukui, Maki Igarashi, et al. · Molecular Genetics & Genomic Medicine · 24
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The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice
2016 · Mami Miyado, Masafumi Inui, et al. · Biology of Sex Differences · 23
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Fertility preservation in a family with a novel NR5A1 mutation
2014 · Hiroko Yagi, Masaki Takagi, et al. · Endocrine Journal · 21
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Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency
2013 · Maki Fukami, Manami Iso, et al. · Endocrine Journal · 21
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Enhancement of lung carcinogenesis initiated with 4-(N-hydroxymethylnitrosamino)-1-(3-pyridyl)-1-butanone by Ogg1 gene deficiency in female, but not male, mice
2009 · Maki Igarashi, Manabu Watanabe, et al. · The Journal of Toxicological Sciences · 21
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Female-dominant estrogen production in healthy children before adrenarche
2021 · Maki Igarashi, Tadayuki Ayabe, et al. · Endocrine Connections · 20
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Carcinogenic risk of copper gluconate evaluated by a rat medium-term liver carcinogenicity bioassay protocol
2008 · Masayoshi Abe, Koji Usuda, et al. · Archives of Toxicology · 18
Methylation of neutral endopeptidase 24.11 promoter in rat hepatocellular carcinoma
2006 · Fumiyuki Uematsu, Masakazu Takahashi, et al. · Cancer Science · 18
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GWAS of habitual coffee consumption reveals a sex difference in the genetic effect of the 12q24 locus in the Japanese population
2019 · Huijuan Jia, Shun Nogawa, et al. · BMC Genetics · 17
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Dietary supplement use in elementary school children: a Japanese web-based survey
2021 · Kazue Ishitsuka, Satoshi Sasaki, et al. · Environmental Health and Preventive Medicine · 16
Identification of the 12q24 locus associated with fish intake frequency by genome-wide meta-analysis in Japanese populations
2019 · Maki Igarashi, Shun Nogawa, et al. · Genes & Nutrition · 14
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Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias
2015 · Maki Igarashi, Yuka Wada, et al. · Sexual Development · 14
Distinct patterns of gene expression in hepatocellular carcinomas and adjacent non‐cancerous, cirrhotic liver tissues in rats fed a choline‐deficient, l ‐amino acid‐defined diet
2005 · Fumiyuki Uematsu, Masakazu Takahashi, et al. · Cancer Science · 14
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Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review
2017 · Kei Takasawa, Maki Igarashi, et al. · Sexual Development · 12
De novo Frameshift Mutation in Fibroblast Growth Factor 8 in a Male Patient with Gonadotropin Deficiency
2013 · Erina Suzuki, Shuichi Yatsuga, et al. · Hormone Research in Paediatrics · 12
SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation
2015 · Maki Igarashi, Hitoshi Mikami, et al. · Sexual Development · 11
Cryptic Genomic Rearrangements in Three Patients with 46,XY Disorders of Sex Development
2013 · Maki Igarashi, Vu Chi Dung, et al. · PLoS ONE · 11
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Works count: 68
Citation count: 1,290
H-index: 17
I10-index: 28
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