Molecular basis of human sex spectrum

• Project Area: Spectrum of the Sex: a continuity of phenotypes between female and male
• Project/Area Number: 17H06428
• Research Category: Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
• Allocation Type: Single-year Grants
• Review Section: Biological Sciences
• Research Institution: National Center for Child Health and Development
• Principal Investigator: Fukami Maki 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 部長 (40265872)
• Co-Investigator(Kenkyū-buntansha): 緒方 勤 浜松医科大学, 医学部, 特命研究教授 (40169173)
• Project Period (FY): 2017-06-30 – 2022-03-31
• Project Status: Completed (Fiscal Year 2021)
• Budget Amount: ¥137,930,000 (Direct Cost: ¥106,100,000、Indirect Cost: ¥31,830,000); Fiscal Year 2021: ¥27,560,000 (Direct Cost: ¥21,200,000、Indirect Cost: ¥6,360,000); Fiscal Year 2020: ¥27,560,000 (Direct Cost: ¥21,200,000、Indirect Cost: ¥6,360,000); Fiscal Year 2019: ¥27,560,000 (Direct Cost: ¥21,200,000、Indirect Cost: ¥6,360,000); Fiscal Year 2018: ¥27,560,000 (Direct Cost: ¥21,200,000、Indirect Cost: ¥6,360,000); Fiscal Year 2017: ¥27,690,000 (Direct Cost: ¥21,300,000、Indirect Cost: ¥6,390,000)
• Keywords: 遺伝子 / 性分化 / ホルモン / 先天性疾患 / 性染色体 / 疾患 / ゲノム / 性差 / 染色体 / 生殖 / 内分泌

Outline of Final Research Achievements

We addressed the concept of "sex spectrum" in humans. Our notable achievements include (i) discovery of several novel genetic abnormalities leading to disorders of sex development, pubertal disorders, and spermatogenic failure; (ii) elucidation of the physiological and pathological roles of novel human androgens (11-oxygenated C19 steroids); (iii) clarification of the timing of X chromosome inactivation and aneuploidy rescue in early embryos. (iv) understanding the effects of intrauterine malnutrition on sex differentiation and spermatogenesis; and (v) elucidating sex hormone metabolism in healthy prepubertal children and in the placenta.

Academic Significance and Societal Importance of the Research Achievements

ヒトを含む動物の性について、「連続する表現型スペクトラム」という新たな概念を提唱した。また、ヒト性分化や性成熟に関与する多くの新規因子を見出した。さらに本研究によって、性染色体進化の理解が深まった。われわれの研究の成果は、社会におけるヒトの多様性の理解の基盤となる。また、本研究によって得られた知見は、性分化疾患、性成熟疾患、精子形成不全症の新規診断法や重症化予防法の開発につながる。

Research Products

• [Int'l Joint Research] Tuebingen University(ドイツ)
• [Int'l Joint Research] Hanoi University(ベトナム)
• [Int'l Joint Research] Univesity ｏｆ Bern(スイス)
• [Int'l Joint Research] Heidelberg University(ドイツ)
• [Journal Article] Intrauterine hyponutrition reduces fetal testosterone production and postnatal sperm count in the mouse. (2022)
  • Author(s): Fujisawa Y, Ono H, Konno A, Yao I, Itoh H, Baba T, Morohashi K, Katoh-Fukui Y, Miyado M, Fukami M and Ogata T.
  • Journal Title: Journal of the Endocrine Society Volume: 6 Issue: 4 Pages: 1-11
  • DOI: 10.1210/jendso/bvac022
  • Peer Reviewed / Open Access
• [Journal Article] Congenital disorders of estrogen biosynthesis and action (2022)
  • Author(s): Fukami Maki、Ogata Tsutomu
  • Journal Title: Best Practice and Research Clinical Endocrinology and Metabolism Volume: 36 Issue: 1 Pages: 101580-101580
  • DOI: 10.1016/j.beem.2021.101580
  • Peer Reviewed / Open Access
• [Journal Article] MAMLD1 and differences/disorders of sex development: An update. (2022)
  • Author(s): Miyado M, Fukami M and Ogata T.
  • Journal Title: Sexual Development Volume: 印刷中 Issue: 2-3 Pages: 1-12
  • DOI: 10.1159/000519298
  • Peer Reviewed / Open Access
• [Journal Article] Mosaic loss of the Y chromosome and men's health. (2022)
  • Author(s): Fukami M and Miyado M.
  • Journal Title: Reproductive Medicine and Biology Volume: 21 Issue: 1
  • DOI: 10.1002/rmb2.12445
  • Peer Reviewed / Open Access
• [Journal Article] Quantification of androgens and their precursors in full-term human placenta. (2021)
  • Author(s): Yoshida T, Matsumoto K, Miyado M, Miyashiro Y, Sago H, Horikawa R and Fukami M.
  • Journal Title: European Journal of Endocrinology Volume: 185 Issue: 5 Pages: K7-K11
  • DOI: 10.1530/eje-21-0312
  • Peer Reviewed / Open Access
• [Journal Article] Circulating steroids and mood disorders in patients with polycystic ovary syndrome. (2021)
  • Author(s): Yoshida T, Saito K, Kawamura T, Ishikawa T, Kato T, Matsubara K, Miyasaka N, Miyado M and Fukami M.
  • Journal Title: Steroids Volume: 165 Pages: 108748-108748
  • DOI: 10.1016/j.steroids.2020.108748
  • Peer Reviewed / Open Access
• [Journal Article] Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (<i>PMM2</i>) mutations for congenital disorder of glycosylation (2021)
  • Author(s): Masunaga Yohei、Mochizuki Mie、Kadoya Machiko、Wada Yoshinao、Okamoto Nobuhiko、Fukami Maki、Kato Fumiko、Saitsu Hirotomo、Ogata Tsutomu
  • Journal Title: Endocrine Journal Volume: 68 Issue: 5 Pages: 605-611
  • DOI: 10.1507/endocrj.EJ20-0706
  • NAID: 130008044607
  • ISSN: 0918-8959, 1348-4540
  • Peer Reviewed / Open Access
• [Journal Article] Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development (2021)
  • Author(s): Ushijima Kikumi、Ogawa Yuya、Terao Miho、Asakura Yumi、Muroya Koji、Hayashi Mie、Ishii Tomohiro、Hasegawa Tomonobu、Sekido Ryohei、Fukami Maki、Takada Shuji、Narumi Satoshi
  • Journal Title: American Journal of Medical Genetics Part A Volume: 185 Issue: 4 Pages: 1067-1075
  • DOI: 10.1002/ajmg.a.62063
  • Peer Reviewed
• [Journal Article] SOX10 mutation screening for 117 patients with Kallmann syndrome (2021)
  • Author(s): Shima Hirohito、Tokuhiro Etsuro、Okamoto Shingo、Nagamori Mariko、Ogata Tsutomu、Narumi Satoshi、Nakamura Akie、Izumi Yoko、Jinno Tomoko、Suzuki Erina、Fukami Maki
  • Journal Title: Journal of the Endocrine Society Volume: 5 Issue: 7
  • DOI: 10.1210/jendso/bvab056
  • Peer Reviewed / Open Access
• [Journal Article] Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification. (2021)
  • Author(s): Ogiwara Y, Miyado M, Suzuki E, Niida S, Ozaki K and Fukami M.
  • Journal Title: Journal of Human Genetics Volume: 66 Issue: 12 Pages: 1181-1184
  • DOI: 10.1038/s10038-021-00943-9
  • Peer Reviewed / Open Access
• [Journal Article] Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency (2021)
  • Author(s): Akiba Kazuhisa、Aso Keiko、Hasegawa Yukihiro、Fukami Maki
  • Journal Title: Journal of Pediatric Endocrinology and Metabolism Volume: 34 Issue: 9 Pages: 1191-1195
  • DOI: 10.1515/jpem-2020-0678
  • Peer Reviewed
• [Journal Article] Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements (2021)
  • Author(s): Kawashima Sayaka、Hattori Atsushi、Suzuki Erina、Matsubara Keiko、Toki Machiko、Kosaki Rika、Hasegawa Yukihiro、Nakabayashi Kazuhiko、Fukami Maki、Kagami Masayo
  • Journal Title: Clinical Epigenetics Volume: 13 Issue: 1 Pages: 134-134
  • DOI: 10.1186/s13148-021-01121-6
  • Peer Reviewed / Open Access
• [Journal Article] NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism (2021)
  • Author(s): Tamaoka Satoshi、Suzuki Erina、Hattori Atsushi、Ogata Tsutomu、Fukami Maki、Katoh-Fukui Yuko
  • Journal Title: Human Genome Variation Volume: 8 Issue: 1 Pages: 5-5
  • DOI: 10.1038/s41439-021-00137-x
  • Peer Reviewed / Open Access
• [Journal Article] Female-dominant estrogen production in healthy young children before adrenarche. (2021)
  • Author(s): Maki Igarashi, Tadayuki Ayabe, Kiwako Yamamoto-Hanada, Keiko Matsubara, Hatoko Sasaki, Mayako Saito-Abe, Miori Sato, Nathan Mise, Akihiko Ikegami, Masayuki Shimono, Reiko Suga, Shouichi Ohga, Masafumi Sanefuji, Masako Oda, Hiroshi Mitsubuchi, Takehiro Michikawa, Shin Yamazaki, Shoji Nakayama, Yukihiro Ohya, Maki Fukami
  • Journal Title: Endocrine connections Volume: 10 Issue: 10 Pages: 1221-1226
  • DOI: 10.1530/ec-21-0134
  • Peer Reviewed / Open Access
• [Journal Article] Role of liquid-liquid separation in endocrine and living cells. (2021)
  • Author(s): Akiba K, Katoh-Fukui Y, Yoshida K, Narumi S, Miyado M, Hasegawa Y and Fukami M.
  • Journal Title: Journal of the Endocrine Society Volume: 5 Issue: 10
  • DOI: 10.1210/jendso/bvab126
  • Peer Reviewed / Open Access
• [Journal Article] Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia (2021)
  • Author(s): Masunaga Yohei、Kagami Masayo、Kato Fumiko、Usui Takeshi、Yonemoto Takako、Mishima Kazuo、Fukami Maki、Aoto Kazushi、Saitsu Hirotomo、Ogata Tsutomu
  • Journal Title: Clinical Epigenetics Volume: 13 Issue: 1 Pages: 73-73
  • DOI: 10.1186/s13148-021-01062-0
  • NAID: 120007042184
  • Peer Reviewed / Open Access
• [Journal Article] Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome (2021)
  • Author(s): Binder Gerhard、Nakamura Akie、Schweizer Roland、Ogata Tsutomu、Fukami Maki、Nagasaki Keisuke
  • Journal Title: The Journal of Clinical Endocrinology & Metabolism Volume: 106 Issue: 5 Pages: 1491-1500
  • DOI: 10.1210/clinem/dgab054
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Correction to: Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism (2021)
  • Author(s): Haque Muhammad Nazmul、Ohtsubo Masafumi、Nishina Sachiko、Nakao Shiro、Yoshida Kazue、Hosono Katsuhiro、Kurata Kentaro、Ohishi Kentaro、Fukami Maki、Sato Miho、Hotta Yoshihiro、Azuma Noriyuki、Minoshima Shinsei
  • Journal Title: Journal of Human Genetics Volume: . Issue: 6 Pages: 645-645
  • DOI: 10.1038/s10038-021-00900-6
  • Peer Reviewed
• [Journal Article] Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review (2021)
  • Author(s): Masunaga Yohei、Fujisawa Yasuko、Muramatsu Mayumi、Ono Hiroyuki、Inoue Takanobu、Fukami Maki、Kagami Masayo、Saitsu Hirotomo、Ogata Tsutomu
  • Journal Title: Endocrine Journal Volume: 68 Issue: 1 Pages: 111-117
  • DOI: 10.1507/endocrj.EJ20-0291
  • NAID: 130007975883
  • ISSN: 0918-8959, 1348-4540
  • Peer Reviewed / Open Access
• [Journal Article] Kagami?Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3 (2020)
  • Author(s): Omark Jessica、Masunaga Yohei、Hannibal Mark、Shaw Brandon、Fukami Maki、Kato Fumiko、Saitsu Hirotomo、Kagami Masayo、Ogata Tsutomu
  • Journal Title: Journal of Human Genetics Volume: 66 Issue: 4 Pages: 439-443
  • DOI: 10.1038/s10038-020-00858-x
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum (2020)
  • Author(s): Fuke Tomoko、Nakamura Akie、Inoue Takanobu、Kawashima Sayaka、Hara Kaori Isono、Matsubara Keiko、Sano Shinichiro、Yamazawa Kazuki、Fukami Maki、Ogata Tsutomu、Kagami Masayo
  • Journal Title: The Journal of Clinical Endocrinology & Metabolism Volume: 106 Issue: 3 Pages: 802-813
  • DOI: 10.1210/clinem/dgaa856
  • Peer Reviewed / Open Access
• [Journal Article] A Novel GNAS Duplication Associated With Loss‐of‐Methylation Restricted to Exon A/B Causes Pseudohypoparathyroidism Type Ib ( PHP1B ) (2020)
  • Author(s): Reyes Monica、Kagami Masayo、Kawashima Sayaka、Pallotta Johanna、Schnabel Dirk、Fukami Maki、J?ppner Harald
  • Journal Title: Journal of Bone and Mineral Research Volume: 36 Issue: 3 Pages: 546-552
  • DOI: 10.1002/jbmr.4209
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients (2020)
  • Author(s): Inoue Takanobu、et al
  • Journal Title: Clinical Epigenetics Volume: 12 Issue: 1 Pages: 86-86
  • DOI: 10.1186/s13148-020-00865-x
  • Peer Reviewed / Open Access
• [Journal Article] Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ? 30?years (2020)
  • Author(s): Hara-Isono Kaori、Matsubara Keiko、Mikami Masashi、Arima Takahiro、Ogata Tsutomu、Fukami Maki、Kagami Masayo
  • Journal Title: Clinical Epigenetics Volume: 12 Issue: 1 Pages: 111-111
  • DOI: 10.1186/s13148-020-00900-x
  • Peer Reviewed / Open Access
• [Journal Article] Genome-wide methylation analysis in Silver?Russell syndrome, Temple syndrome, and Prader?Willi syndrome (2020)
  • Author(s): Hara-Isono Kaori、Matsubara Keiko、Fuke Tomoko、Yamazawa Kazuki、Satou Kazuhito、Murakami Nobuyuki、Saitoh Shinji、Nakabayashi Kazuhiko、Hata Kenichiro、Ogata Tsutomu、Fukami Maki、Kagami Masayo
  • Journal Title: Clinical Epigenetics Volume: 12 Issue: 1 Pages: 159-159
  • DOI: 10.1186/s13148-020-00949-8
  • Peer Reviewed / Open Access
• [Journal Article] 45,X/46,X,psu idic(Y)(q11.2) in a phenotypically normal male with short stature: a case report (2020)
  • Author(s): Kawabe Yasuhiro、Yamaguchi Mihoko、Miyagaki Satoshi、Ota Takeshi、Morimoto Hidechika、Hattori Atsushi、Fukami Maki、Mori Jun
  • Journal Title: Clinical Pediatric Endocrinology Volume: 29 Issue: 4 Pages: 189-193
  • DOI: 10.1297/cpe.29.189
  • NAID: 130007922181
  • ISSN: 0918-5739, 1347-7358
  • Peer Reviewed
• [Journal Article] Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report (2020)
  • Author(s): Uchida Noboru、Ohnishi Takuma、Kojima Takuro、Takahashi Tsutomu、Makita Yoshio、Fukami Maki、Shibata Hironori、Hasegawa Tomonobu、Ishii Tomohiro
  • Journal Title: Clinical Pediatric Endocrinology Volume: 29 Issue: 4 Pages: 179-182
  • DOI: 10.1297/cpe.29.179
  • NAID: 130007922120
  • ISSN: 0918-5739, 1347-7358
  • Peer Reviewed
• [Journal Article] Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature (2020)
  • Author(s): Kawashima Sayaka、Yagi Hiroko、Hirano Yasuhiro、Toki Machiko、Izumi Kei、Dateki Sumito、Namba Noriyuki、Kamimaki Tsutomu、Muroya Koji、Tanaka Toshiaki、Fukami Maki、Kagami Masayo、_ _
  • Journal Title: Journal of Pediatric Endocrinology and Metabolism Volume: 33 Issue: 10 Pages: 1335-1339
  • DOI: 10.1515/jpem-2020-0198
  • Peer Reviewed
• [Journal Article] Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies (2020)
  • Author(s): Iwahashi-Odano Megumi、Nagasaki Keisuke、Fukami Maki、Nishioka Junko、Yatsuga Shuichi、Asakura Yumi、Adachi Masanori、Muroya Koji、Hasegawa Tomonobu、Narumi Satoshi
  • Journal Title: The Journal of Clinical Endocrinology & Metabolism Volume: 105 Issue: 11 Pages: 4055-4065
  • DOI: 10.1210/clinem/dgaa584
  • Peer Reviewed
• [Journal Article] TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts (2020)
  • Author(s): Uchiyama Hiroki、Masunaga Yohei、Ishikawa Takamichi、Fukuoka Tetsuya、Fukami Maki、Saitsu Hirotomo、Ogata Tsutomu
  • Journal Title: European Journal of Medical Genetics Volume: 63 Issue: 11 Pages: 104060-104060
  • DOI: 10.1016/j.ejmg.2020.104060
  • NAID: 120007173432
  • Peer Reviewed
• [Journal Article] Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing (2020)
  • Author(s): Yamoto Kaori、Saitsu Hirotomo、Fujisawa Yasuko、Kato Fumiko、Matsubara Keiko、Fukami Maki、Kagami Masayo、Ogata Tsutomu
  • Journal Title: Clinical Case Reports Volume: 8 Issue: 6 Pages: 1076-1080
  • DOI: 10.1002/ccr3.2826
  • Peer Reviewed
• [Journal Article] Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency. (2020)
  • Author(s): Kinjo K, Nagasaki K, Muroya K, Suzuki E, Ishiwata K, Nakabayashi K, Hattori A, Nagao K, Nozawa R-S, Obuse C, Miyado K, Ogata T, Fukami M and Miyado M.
  • Journal Title: Scientific Reports Volume: 10 Issue: 1 Pages: 10985-10985
  • DOI: 10.1038/s41598-020-67715-x
  • Peer Reviewed / Open Access
• [Journal Article] Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development. (2020)
  • Author(s): Igarashi M, Masunaga Y, Hasegawa Y, Kinjo K, Miyado M, Saitsu H, Kato-Fukui Y, Horikawa R, Okubo Y, Ogata T and Fukami M.
  • Journal Title: Scientific Reports Volume: 10 Issue: 1 Pages: 17375-17375
  • DOI: 10.1038/s41598-020-74405-1
  • Peer Reviewed / Open Access
• [Journal Article] Foetal virilisation caused by overproduction of non-aromatisable 11-oxygenated C19 steroids in maternal adrenal tumour (2020)
  • Author(s): Nagasaki Keisuke、Takase Kaoru、Numakura Chikahiko、Homma Keiko、Hasegawa Tomonobu、Fukami Maki
  • Journal Title: Human Reproduction Volume: 35 Issue: 11 Pages: 2609-2612
  • DOI: 10.1093/humrep/deaa221
  • Peer Reviewed / Open Access
• [Journal Article] Established and Novel Mechanisms Leading to de novo Genomic Rearrangements in the Human Germline (2020)
  • Author(s): Hattori Atsushi、Fukami Maki
  • Journal Title: Cytogenetic and Genome Research Volume: 160 Issue: 4 Pages: 167-176
  • DOI: 10.1159/000507837
  • Peer Reviewed / Open Access
• [Journal Article] SOX9 is colocalized with paraspeckle protein NONO in cultured murine sertoli cells and features structural characteristics of intrinsically disordered proteins (2020)
  • Author(s): Akiba Kazuhisa、Narumi Satoshi、Nishimura Riko、Kato‐Fukui Yuko、Takada Shuji、Hasegawa Yukihiro、Fukami Maki
  • Journal Title: Molecular Reproduction and Development Volume: 87 Issue: 11 Pages: 1124-1125
  • DOI: 10.1002/mrd.23425
  • Peer Reviewed / Open Access
• [Journal Article] Human Spermatogenesis Tolerates Massive Size Reduction of the Pseudoautosomal Region (2020)
  • Author(s): Fukami Maki、Fujisawa Yasuko、Ono Hiroyuki、Jinno Tomoko、Ogata Tsutomu
  • Journal Title: Genome Biology and Evolution Volume: 12 Issue: 11 Pages: 1961-1964
  • DOI: 10.1093/gbe/evaa168
  • Peer Reviewed / Open Access
• [Journal Article] Reference values for salivary cortisol in heathy young infants by LC‐MS/MS (2020)
  • Author(s): Saito‐Abe Mayako、Yamamoto‐Hanada Kiwako、Nakayama Shoji F.、Hashimoto Yuki、Natsume Osamu、Fukami Maki、Hasegawa Tomonobu、Ohya Yukihiro
  • Journal Title: Pediatrics International Volume: . Issue: 7 Pages: 785-788
  • DOI: 10.1111/ped.14166
  • Peer Reviewed
• [Journal Article] Copy-number analysis of Y-linked loci in young men with non-obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y. (2020)
  • Author(s): Suzuki E, Kobori Y, Katsumi M, Ushijima K, Uchiyama T, Okada H, Miyado M and Fukami M.
  • Journal Title: Reprod Med Biol. Volume: 19 Issue: 2 Pages: 178-181
  • DOI: 10.1002/rmb2.12321
  • Peer Reviewed / Open Access
• [Journal Article] De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue (2020)
  • Author(s): Matsubara Keiko、Yanagida Kaede、Nagai Toshiro、Kagami Masayo、Fukami Maki
  • Journal Title: Frontiers in Genetics Volume: 11
  • DOI: 10.3389/fgene.2020.00132
  • Peer Reviewed / Open Access
• [Journal Article] DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations. (2019)
  • Author(s): Ogushi K, Muroya K, Shima H, Jinno T, Miyado M and Fukami M.
  • Journal Title: Cytogenetic and Genome Research Volume: 158 Issue: 2 Pages: 56-62
  • DOI: 10.1159/000500468
  • Peer Reviewed / Open Access
• [Journal Article] Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation (2019)
  • Author(s): Adachi Masanori、Fukami Maki、Kagami Masayo、Sho Noriko、Yamazaki Yuichiro、Tanaka Yukichi、Asakura Yumi、Hanakawa Junko、Muroya Koji
  • Journal Title: Journal of Pediatric Endocrinology and Metabolism Volume: 32 Issue: 2 Pages: 191-196
  • DOI: 10.1515/jpem-2018-0464
  • Peer Reviewed
• [Journal Article] Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions. (2019)
  • Author(s): Matsubara K, Itoh M, Shimizu K, Saito S, Enomoto K, Nakabayashi K, Hata K, Kurosawa K, Ogata T, Fukami M, Kagami M.
  • Journal Title: Clin Epigenetics Volume: 11 Issue: 1 Pages: 36-36
  • DOI: 10.1186/s13148-019-0633-1
  • Peer Reviewed / Open Access
• [Journal Article] Temple Syndrome in a Patient With Variably Methylated CpGs at the Primary MEG3/DLK1:IG-DMR and Severely Hypomethylated CpGs at the Secondary MEG3:TSS-DMR (2019)
  • Author(s): Kagami M, Yanagisawa A, Ota M, Matsuoka K, Nakamura A, Matsubara K, Nakabayashi K, Takada S, Fukami M, Ogata T.
  • Journal Title: Clinical Epigenetics Volume: 11 Issue: 1 Pages: 41-41
  • DOI: 10.1186/s13148-019-0640-2
  • Peer Reviewed / Open Access
• [Journal Article] A case report and literature review of monoallelic mutation of GHR (2019)
  • Author(s): Mitani Marie、Shima Hirohito、Sato Takeshi、Inoguchi Tomohiro、Kamimaki Tsutomu、Fukami Maki、Hasegawa Tomonobu
  • Journal Title: Journal of Pediatric Endocrinology and Metabolism Volume: 32 Issue: 4 Pages: 415-419
  • DOI: 10.1515/jpem-2018-0365
  • Peer Reviewed
• [Journal Article] Losing maleness: Somatic Y chromosome loss at every stage of a man’s life. (2019)
  • Author(s): Miyado M and Fukami M.
  • Journal Title: FASEB BioAdv. (in press) Volume: 印刷中 Pages: 350-352
  • DOI: 10.1096/fba.2019-00006
  • Peer Reviewed / Open Access
• [Journal Article] Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to <b><i>SRY</i></b>-Positive 45,X Testicular Disorders of Sex Development (2019)
  • Author(s): Uehara Erika、Hattori Atsushi、Shima Hirohito、Ishiguro Akira、Abe Yu、Ogata Tsutomu、Ogawa Eishin、Fukami Maki
  • Journal Title: Cytogenetic and Genome Research Volume: 158 Issue: 3 Pages: 115-120
  • DOI: 10.1159/000501378
  • Peer Reviewed
• [Journal Article] Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells. (2019)
  • Author(s): Hattori A, Okamura K, Terada Y, Tanaka R, Katoh-Fukui Y, Matsubara Y, Matsubara K, Kagami M, Horikawa R, Fukami M
  • Journal Title: BMC Med Genomics. Volume: 12 Issue: 1 Pages: 77-77
  • DOI: 10.1186/s12920-019-0526-3
  • Peer Reviewed / Open Access
• [Journal Article] KLF11 variant in a family clinically diagnosed with early childhood‐onset type 1B diabetes (2019)
  • Author(s): Ushijima Kikumi、Narumi Satoshi、Ogata Tsutomu、Yokota Ichiro、Sugihara Shigetaka、Kaname Tadashi、Horikawa Yukio、Matsubara Yoichi、Fukami Maki、Kawamura Tomoyuki、The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes
  • Journal Title: Pediatric Diabetes Volume: 20 Pages: 712-719
  • DOI: 10.1111/pedi.12868
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis (2019)
  • Author(s): Ogushi Kenichiro、Muroya Koji、Shima Hirohito、Jinno Tomoko、Miyado Mami、Fukami Maki
  • Journal Title: American Journal of Medical Genetics Part A Volume: 179 Issue: 9 Pages: 1778-1782
  • DOI: 10.1002/ajmg.a.61275
  • Peer Reviewed
• [Journal Article] De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation (2019)
  • Author(s): Shimizu Daisuke、Sakamoto Rieko、Yamoto Kaori、Saitsu Hirotomo、Fukami Maki、Nishimura Gen、Ogata Tsutomu
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 10 Pages: 1041-1044
  • DOI: 10.1038/s10038-019-0650-0
  • Peer Reviewed
• [Journal Article] Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2) (2019)
  • Author(s): Yamoto Kaori、Saitsu Hirotomo、Nishimura Gen、Kosaki Rika、Takayama Shinichiro、Haga Nobuhiko、Tonoki Hidefumi、Okumura Akihisa、Horii Emiko、Okamoto Nobuhiko、Suzumura Hiroshi、Ikegawa Shiro、Kato Fumiko、Fujisawa Yasuko、Nagata Eiko、Takada Shuji、Fukami Maki、Ogata Tsutomu
  • Journal Title: European Journal of Human Genetics Volume: 27 Issue: 12 Pages: 1845-1857
  • DOI: 10.1038/s41431-019-0473-7
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Endometrial preparation methods for frozen-thawed embryo transfer are associated with altered risks of hypertensive disorders of pregnancy, placenta accreta, and gestational diabetes mellitus. (2019)
  • Author(s): Saito K, Kuwahara A, Ishikawa T, Morisaki N, Miyado M, Miyado K, Fukami M, Miyasaka N, Ishihara O, Irahara M and Saito H.
  • Journal Title: Human Reproduction Volume: 34 Issue: 8 Pages: 1567-1575
  • DOI: 10.1093/humrep/dez079
  • Peer Reviewed
• [Journal Article] Aneuploid rescue precedes X-chromosome inactivation and increases the incidence of its skewness by reducing the size of the embryonic progenitor cell pool. (2019)
  • Author(s): Yoshida T, Miyado M, Mikami M, Suzuki E, Kinjo K, Matsubara K, Ogata T, Akutsu H, Kagami M and Fukami M.
  • Journal Title: Human Reproduction Volume: 34 Issue: 9 Pages: 1762-1769
  • DOI: 10.1093/humrep/dez117
  • Peer Reviewed / Open Access
• [Journal Article] Exploring disease-specific methylated CpGs in human male genital abnormalities by using methylated-site display-amplified fragment length polymorphism (MSD-AFLP) (2019)
  • Author(s): AIBA Toshiki、SAITO Toshiyuki、HAYASHI Akiko、SATO Shinji、YUNOKAWA Harunobu、FUKAMI Maki、HAYASHI Yutaro、MIZUNO Kentaro、SATO Yuichi、KOJIMA Yoshiyuki、OHSAKO Seiichiroh
  • Journal Title: Journal of Reproduction and Development Volume: 65 Issue: 6 Pages: 491-497
  • DOI: 10.1262/jrd.2019-069
  • NAID: 130007768757
  • ISSN: 0916-8818, 1348-4400
  • Peer Reviewed
• [Journal Article] IGF2 Mutations (2019)
  • Author(s): Masunaga Yohei、Inoue Takanobu、Yamoto Kaori、Fujisawa Yasuko、Sato Yasuhiro、Kawashima-Sonoyama Yuki、Morisada Naoya、Iijima Kazumoto、Ohata Yasuhisa、Namba Noriyuki、Suzumura Hiroshi、Kuribayashi Ryota、Yamaguchi Yu、Yoshihashi Hiroshi、Fukami Maki、Saitsu Hirotomo、Kagami Masayo、Ogata Tsutomu
  • Journal Title: The Journal of Clinical Endocrinology & Metabolism Volume: 105 Issue: 1 Pages: 116-125
  • DOI: 10.1210/clinem/dgz034
  • Peer Reviewed / Open Access
• [Journal Article] Frequency of Common Copy-Number Variations at 15q11.2q13 in Sperm of Healthy Men (2019)
  • Author(s): 1.Kinoshita T, Mikami M, Ayabe T, Matsubara K, Ono H, Ohki K, Fukami M＊, Katoh-Fukui Y
  • Journal Title: Cytogenet Genome Res. Volume: 159 Issue: 2 Pages: 66-73
  • DOI: 10.1159/000503267
  • Peer Reviewed
• [Journal Article] De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions (2019)
  • Author(s): Ohishi Akira、Masunaga Yohei、Iijima Shigeo、Yamoto Kaori、Kato Fumiko、Fukami Maki、Saitsu Hirotomo、Ogata Tsutomu
  • Journal Title: Journal of Human Genetics Volume: 65 Issue: 2 Pages: 181-186
  • DOI: 10.1038/s10038-019-0690-5
  • Peer Reviewed
• [Journal Article] Reply: Artificial cycle ‘per se’ or the specific protocol of endometrial preparation as responsible for obstetric complications of frozen cycle? (2019)
  • Author(s): Saito K, Kuwahara A, Ishikawa T, Morisaki N, Miyado M, Miyado K, Fukami M, Miyasaka N, Ishihara O, Irahara M and Saito H.
  • Journal Title: Human Reproduction Volume: 34 Issue: 12 Pages: 2554-2555
  • DOI: 10.1093/humrep/dez221
  • Peer Reviewed
• [Journal Article] Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis (2019)
  • Author(s): Miyado Mami、Fukami Maki、Takada Shuji、Terao Miho、Nakabayashi Kazuhiko、Hata Kenichiro、Matsubara Yoichi、Tanaka Yoko、Sasaki Goro、Nagasaki Keisuke、Shiina Masaaki、Ogata Kazuhiro、Masunaga Youhei、Saitsu Hirotomo、Ogata Tsutomu
  • Journal Title: Journal of the American Society of Nephrology Volume: 30 Issue: 5 Pages: 877-889
  • DOI: 10.1681/asn.2018121268
  • Peer Reviewed / Open Access
• [Journal Article] Dihydrotestosterone induces minor transcriptional alterations in genital skin fibroblasts of children with and without androgen insensitivity (2019)
  • Author(s): Tanase-Nakao Kanako、Mizuno Kentaro、Hayashi Yutaro、Kojima Yoshiyuki、Hara Mariko、Matsumoto Kenji、Matsubara Yoichi、Igarashi Maki、Miyado Mami、Fukami Maki
  • Journal Title: Endocrine Journal Volume: 66 Issue: 4 Pages: 387-393
  • DOI: 10.1507/endocrj.EJ18-0494
  • NAID: 130007636463
  • ISSN: 0918-8959, 1348-4540
  • Peer Reviewed / Open Access
• [Journal Article] (Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty. (2019)
  • Author(s): Suzuki E, Shima H, Kagami M, Soneda S, Tanaka T, Yatsuga S, Nishioka J, Oto Y, Kamiya T, Naiki Y, Ogata T, Fujisawa Y, Nakamura A, Kawashima S, Morikawa S, Horikawa R, Sano S, Fukami M
  • Journal Title: Human Genome Variation Volume: - Issue: 1 Pages: 7-7
  • DOI: 10.1038/s41439-019-0039-9
  • Peer Reviewed / Open Access
• [Journal Article] MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration (2019)
  • Author(s): Hamanaka K、Takata A、Uchiyama Y、Miyatake S、Miyake N、Mitsuhashi S、Iwama K、Fujita A、Imagawa E、Alkanaq AN、Koshimizu E、Azuma Y、Nakashima M、Mizuguchi T、Saitsu H、Wada Y、Minami S、Katoh-Fukui Y、Masunaga Y、Fukami M、Hasegawa T、Ogata T、Matsumoto N
  • Journal Title: Human Molecular Genetics Volume: 印刷中 Issue: 14 Pages: 2319-2329
  • DOI: 10.1093/hmg/ddz066
  • Peer Reviewed
• [Journal Article] WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome (2019)
  • Author(s): Sutani Akito、Shima Hirohito、Hijikata Atsushi、Hosokawa Susumu、Katoh-Fukui Yuko、Takasawa Kei、Suzuki Erina、Doi Shozaburo、Shirai Tsuyoshi、Morio Tomohiro、Fukami Maki、Kashimada Kenichi
  • Journal Title: European Journal of Medical Genetics Volume: 印刷中 Issue: 1 Pages: 103626-103626
  • DOI: 10.1016/j.ejmg.2019.01.016
  • Peer Reviewed / Open Access
• [Journal Article] A Follow-Up from Infancy to Puberty in a Japanese Male with<b><i> SRY</i></b>-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in <b><i>NR5A1</i></b> (2019)
  • Author(s): Saito-Hakoda Akiko、Kanno Junko、Suzuki Dai、Kawashima Sayaka、Kamimura Miki、Hirano Koji、Sakai Kiyohide、Igarashi Maki、Fukami Maki、Fujiwara Ikuma
  • Journal Title: Sexual Development Volume: 印刷中 Issue: 2 Pages: 60-66
  • DOI: 10.1159/000496777
  • Peer Reviewed
• [Journal Article] Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease (2019)
  • Author(s): Yoshii Keisuke、Matsumoto Hideki、Hirasawa Kyoko、Sakauchi Masako、Hara Hiroko、Ito Susumu、Osawa Makiko、Fukami Maki、Horikawa Reiko、Nagata Satoru
  • Journal Title: Respiratory Investigation Volume: 未定 Issue: 4 Pages: 395-398
  • DOI: 10.1016/j.resinv.2019.02.008
  • Peer Reviewed
• [Journal Article] A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism (2019)
  • Author(s): Umino Satoko、Kitamura Miyuki、Katoh‐Fukui Yuko、Fukami Maki、Usui Takeshi、Yatsuga Shuichi、Koga Yasutoshi
  • Journal Title: Molecular Genetics & Genomic Medicine Volume: － Issue: 6
  • DOI: 10.1002/mgg3.730
  • Peer Reviewed
• [Journal Article] ヒト染色体バリエーションの新知見 (2019)
  • Author(s): 深見真紀
  • Journal Title: Journal of Mammalian Ova Research Volume: 印刷中
• [Journal Article] Turner症候群の遺伝学 (2019)
  • Author(s): 深見真紀
  • Journal Title: 小児科診療 Volume: 印刷中
• [Journal Article] 片親性ダイソミー (2019)
  • Author(s): 深見真紀
  • Journal Title: 遺伝子医学 Volume: 印刷中
  • NAID: 40022087144
• [Journal Article] Y染色体喪失とヒトの性スペクトラム (2019)
  • Author(s): 宮戸真美、深見真紀
  • Journal Title: 実験医学 Volume: 印刷中
• [Journal Article] 11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndrome (2018)
  • Author(s): Yoshida T, Matsuzaki T, Miyado M, Saito K, Iwasa T, Matsubara Y, Ogata T, Irahara M, Fukami M.
  • Journal Title: Endocrine Journal Volume: 65 Issue: 10 Pages: 979-990
  • DOI: 10.1507/endocrj.EJ18-0212
  • NAID: 130007501323
  • ISSN: 0918-8959, 1348-4540
  • Peer Reviewed / Open Access
• [Journal Article] Long-term healthcare of people with disorders of sex development: Predictors of pubertal outcomes of partial androgen insensitivity syndrome (2018)
  • Author(s): Fukami Maki
  • Journal Title: EBioMedicine Volume: 37 Pages: 29-30
  • DOI: 10.1016/j.ebiom.2018.10.026
  • Peer Reviewed / Open Access
• [Journal Article] Adrenocortical carcinoma characterized by gynecomastia: A case report (2018)
  • Author(s): Takeuchi Takako、Yoto Yuko、Ishii Akira、Tsugawa Takeshi、Yamamoto Masaki、Hori Tsukasa、Kamasaki Hotaka、Nogami Kazutaka、Oda Takanori、Nui Akihiro、Kimura Sachiko、Yamagishi Takuya、Homma Keiko、Hasegawa Tomonobu、Fukami Maki、Watanabe Yoko、Sasamoto Hidehiko、Tsutsumi Hiroyuki
  • Journal Title: Clinical Pediatric Endocrinology Volume: 27 Issue: 1 Pages: 9-18
  • DOI: 10.1297/cpe.27.9
  • NAID: 130006322094
  • ISSN: 0918-5739, 1347-7358
  • Peer Reviewed
• [Journal Article] MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. (2018)
  • Author(s): Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, Ishii T, Haruna H, Igarashi M, Kon M, Fukuzawa R, Tanaka Y, Fukami M, Hasegawa T, Narumi S.
  • Journal Title: PLoS One. Volume: 13 Issue: 11 Pages: e0206184-e0206184
  • DOI: 10.1371/journal.pone.0206184
  • Peer Reviewed / Open Access
• [Journal Article] Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients (2018)
  • Author(s): Kawashima Sayaka、Nakamura Akie、Inoue Takanobu、Matsubara Keiko、Horikawa Reiko、Wakui Keiko、Takano Kyoko、Fukushima Yoshimitsu、Tatematsu Toshi、Mizuno Seiji、Tsubaki Junko、Kure Shigeo、Matsubara Yoichi、Ogata Tsutomu、Fukami Maki、Kagami Masayo
  • Journal Title: The Journal of Clinical Endocrinology & Metabolism Volume: 103 Issue: 6 Pages: 2083-2088
  • DOI: 10.1210/jc.2017-02780
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Uniparental disomy as a cause of pediatric endocrine disorders (2018)
  • Author(s): Matsubara Keiko、Kagami Masayo、Fukami Maki
  • Journal Title: Clinical Pediatric Endocrinology Volume: 27 Issue: 3 Pages: 113-121
  • DOI: 10.1297/cpe.27.113
  • NAID: 130007427363
  • ISSN: 0918-5739, 1347-7358
  • Peer Reviewed
• [Journal Article] 停留精巣の原因遺伝子と環境因子 (2018)
  • Author(s): 深見真紀
  • Journal Title: 臨床泌尿器科 Volume: -
• [Journal Article] 性分化疾患（性腺分化異常症）の診断と治療. (2018)
  • Author(s): 服部淳、深見真紀
  • Journal Title: 最新女性医療 Volume: -
• [Journal Article] GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly. (2018)
  • Author(s): Igarashi M, Mizuno K, Kon M, Narumi S, Kojima Y, Hayashi Y, Ogata T, Fukami M
  • Journal Title: Asian journal of andrology Volume: 印刷中 Issue: 6 Pages: 0-0
  • DOI: 10.4103/aja.aja_20_18
  • Peer Reviewed / Open Access
• [Journal Article] Somatically acquired isodicentric Y and mosaic loss of chromosome Y in a boy with hypospadias. (2018)
  • Author(s): Miyado M, Muroya K, Katsumi M, Saito K, Kon M and Fukami M.
  • Journal Title: Cytogenet Genome Res. (in press) Volume: 印刷中 Issue: 3 Pages: 0-0
  • DOI: 10.1159/000488162
  • Peer Reviewed / Open Access
• [Journal Article] STX2 is a causative gene for nonobstructive azoospermia. (2018)
  • Author(s): Nakamura S, Kobori Y, Ueda Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito K, Nakamura A, Ogata T, Okada H, Nakai H, Miyado M and Fukami M.
  • Journal Title: Hum Mutat. (in press) Volume: 印刷中 Issue: 6 Pages: 0-0
  • DOI: 10.1002/humu.23423
  • Peer Reviewed
• [Journal Article] An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome (2018)
  • Author(s): Katoh-Fukui Yuko、Yatsuga Shuichi、Shima Hirohito、Hattori Atsushi、Nakamura Akie、Okamura Kohji、Yanagi Kumiko、Iso Manami、Kaname Tadashi、Matsubara Yoichi、Fukami Maki
  • Journal Title: Human Genome Variation Volume: 5 Issue: 1 Pages: 18006-18006
  • DOI: 10.1038/hgv.2018.6
  • Peer Reviewed / Open Access
• [Journal Article] Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene (2018)
  • Author(s): Ono Hiroyuki、Saitsu Hirotomo、Horikawa Reiko、Nakashima Shinichi、Ohkubo Yumiko、Yanagi Kumiko、Nakabayashi Kazuhiko、Fukami Maki、Fujisawa Yasuko、Ogata Tsutomu
  • Journal Title: Scientific Reports Volume: 8 Issue: 1 Pages: 19-29
  • DOI: 10.1038/s41598-018-20691-9
  • Peer Reviewed / Open Access
• [Journal Article] Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review. (2018)
  • Author(s): Takasawa K, Igarashi M, Ono M, Takemoto A, Takada S, Yamataka A, Ogata T, Morio T, Fukami M, Kashimada K.
  • Journal Title: Sexual Development Volume: 24 Issue: 5-6 Pages: 5-6
  • DOI: 10.1159/000485868
  • Peer Reviewed
• [Journal Article] Longitudinal serum and urine steroid metabolite profiling in a 46,XY infant with prenatally identified POR deficiency (2018)
  • Author(s): Ono Hiroyuki、Numakura Chikahiko、Homma Keiko、Hasegawa Tomonobu、Tsutsumi Seiji、Kato Fumiko、Fujisawa Yasuko、Fukami Maki、Ogata Tsutomu
  • Journal Title: The Journal of Steroid Biochemistry and Molecular Biology Volume: 178 Pages: 177-184
  • DOI: 10.1016/j.jsbmb.2017.12.008
  • Peer Reviewed
• [Journal Article] Gain-of-function mutations in G-protein coupled receptor genes associated with human endocrine disorders. (2018)
  • Author(s): Fukami M, Suzuki E, Igarashi M, Miyado M and Ogata T.
  • Journal Title: Clin Endocrinol (Oxf). Volume: 88 Issue: 3 Pages: 351-359
  • DOI: 10.1111/cen.13496
  • Peer Reviewed / Open Access
• [Journal Article] FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism (2017)
  • Author(s): Yamoto Kaori、Okamoto Shingo、Fujisawa Yasuko、Fukami Maki、Saitsu Hirotomo、Ogata Tsutomu
  • Journal Title: American Journal of Medical Genetics Part A Volume: 176 Issue: 1 Pages: 139-143
  • DOI: 10.1002/ajmg.a.38535
  • Peer Reviewed
• [Journal Article] Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations. (2017)
  • Author(s): Nakamura S, Miyado M, Saito M, Katsumi M, Nakamura A, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Okada H, Hata K, Nakabayashi K, Okamura K, Ogata H, Matsubara Y, Ogata T, Nakai H and Fukami M.
  • Journal Title: Andrology. Volume: 5 Issue: 4 Pages: 824-831
  • DOI: 10.1111/andr.12378
  • Peer Reviewed
• [Presentation] ヒトの性の多様性 (2022)
  • Author(s): 深見真紀
  • Organizer: JCR GD&DSDセミナーin関西
  • Invited
• [Presentation] 性の新知見：性スペクトラム (2022)
  • Author(s): 深見真紀
  • Organizer: NIHS特別講演会
  • Invited
• [Presentation] Y染色体と男性力 (2021)
  • Author(s): 深見真紀
  • Organizer: 日本アンドロロジー学会第40回学術大会
  • Invited
• [Presentation] ヒト生殖と染色体のトピックス (2021)
  • Author(s): 深見真紀
  • Organizer: 第5回ART Japan生殖医療研究会
  • Invited
• [Presentation] 性分化疾患の分子メカニズム (2020)
  • Author(s): 深見真紀
  • Organizer: 第93回日本内分泌学会学術総会
  • Invited
• [Presentation] ヒトの性分化 (2020)
  • Author(s): 深見真紀
  • Organizer: 人類遺伝学会専門医セミナー
  • Invited
• [Presentation] 性成熟疾患の分子基盤 (2019)
  • Author(s): 深見真紀
  • Organizer: 第92回 日本内分泌学会学術総会
  • Invited
• [Presentation] ヒトの性成熟の分子基盤 (2019)
  • Author(s): 深見真紀
  • Organizer: 第３７回内分泌代謝学サマーセミナー
  • Invited
• [Presentation] 日常診療に役立つ遺伝学の基礎知識：低身長をモデルとして (2019)
  • Author(s): 深見真紀
  • Organizer: 秋田内分泌懇話会
  • Invited
• [Presentation] 性分化疾患に関与する遺伝的因子と環境因子update (2019)
  • Author(s): 深見真紀
  • Organizer: 第8回日本DOHaD学会学術集会
  • Invited
• [Presentation] 小児内分泌疾患遺伝子診断の現況 (2019)
  • Author(s): 深見真紀
  • Organizer: 第53回日本小児内分泌学会学術集会
  • Invited
• [Presentation] New aspects in human sex development (2019)
  • Author(s): Fukami M
  • Organizer: Pediatric Academic Societies Meeting
  • Int'l Joint Research / Invited
• [Presentation] 低身長を招く遺伝学的異常のトピックス (2019)
  • Author(s): 深見真紀
  • Organizer: 第33回 東北成長障害・成長因子研究会
  • Invited
• [Presentation] Delayed puberty (2018)
  • Author(s): Fukami M
  • Organizer: 16th Asia-Oceania Congress of Endocrinology
  • Int'l Joint Research / Invited
• [Presentation] Molecular basis of disorders of sex development (2018)
  • Author(s): Fukami M
  • Organizer: 16th Asia-Oceania Congress of Endocrinology
  • Int'l Joint Research / Invited
• [Presentation] Y染色体とMen’s health. (2018)
  • Author(s): 深見真紀
  • Organizer: 泌尿器抗加齢医学研究会第10回研究会
  • Invited
• [Presentation] ヒトの性の再定義 (2018)
  • Author(s): 深見真紀
  • Organizer: 第91回日本内分泌学会学術集会
  • Invited
• [Presentation] IGF2: a paternally expressed gene essential for pre- and post-natal growth and placental development (2018)
  • Author(s): Ogata T
  • Organizer: International Joint Conference on Genetics & Medicine
  • Int'l Joint Research / Invited
• [Presentation] 遺伝子から見たMen’s health (2018)
  • Author(s): 深見真紀
  • Organizer: 日本内分泌学会関東甲信支部学術集会
  • Invited
• [Presentation] SHOX異常症の診断update (2018)
  • Author(s): 深見真紀
  • Organizer: PEDフォーラム
  • Invited
• [Presentation] 性スペクトラム (2018)
  • Author(s): 緒方勤
  • Organizer: 第28回日本内分泌学会臨床内分泌代謝アップデート
  • Invited
• [Presentation] 46,XY性分化疾患の分子基盤 (2018)
  • Author(s): 深見真紀
  • Organizer: 第88回日本衛生学会学術総会
  • Invited
• [Presentation] Molecular basis of disorders of sex development. (2017)
  • Author(s): Fukami M
  • Organizer: 7th Gonad Biology Joint Meeting
  • Int'l Joint Research / Invited
• [Presentation] 染色体構造異常・片親性ダイソミーと疾患 内分泌疾患をモデルとして (2017)
  • Author(s): 深見真紀
  • Organizer: 日本人類遺伝学会第62回大会
  • Invited
• [Presentation] 先天性内分泌疾患診療における遺伝学的検査Update。 (2017)
  • Author(s): 深見真紀
  • Organizer: 第27回臨床内分泌update
  • Invited
• [Book] 遺伝子から解き明かす性の不思議な世界 (2019)
  • Author(s): 深見真紀 （田中実 編）
  • Total Pages: 542
  • Publisher: 一式出版
• [Book] Chromothripsis (2018)
  • Author(s): Fukami M, Kurahashi H
  • Total Pages: 367
  • Publisher: Springer
• [Remarks] 国立研究開発法人国立成育医療研究センター分子内分泌研究部
  • URL: http://nrichd.ncchd.go.jp/endocrinology/
• [Remarks] 研究開発法人国立成育医療研究センター分子内分泌研究部
  • URL: http://nrichd.ncchd.go.jp/endocrinology/
• [Funded Workshop] Disorders of Sex Development (DSD) symposium (2018)
• [Funded Workshop] International Workshop for Sex Development (2018)