深見真紀

J-GLOBALへ         更新日: 18/12/12 18:27
 
アバター
研究者氏名
深見真紀
 
フカミ マキ
eメール
fukami-mncchd.go.jp
所属
国立研究開発法人国立成育医療研究センター
部署
分子内分泌研究部
職名
部長
学位
医学博士
科研費研究者番号
40265872

論文

 
Shima Hirohito, Hayashi Mie, Tachibana Takashi, Oshiro Makoto, Amano Naoko, Ishii Tomohiro, Haruna Hidenori, Igarashi Maki, Kon Masafumi, Fukuzawa Ryuji, Tanaka Yukichi, Fukami Maki, Hasegawa Tomonobu, Narumi Satoshi
PLOS ONE   13(11)    2018年11月   [査読有り]
Nakamura A, Muroya K, Ogata-Kawata H, Nakabayashi K, Matsubara K, Ogata T, Kurosawa K, Fukami M, Kagami M
Journal of medical genetics   55(8) 567-570   2018年8月   [査読有り]
Igarashi Maki, Mizuno Kentaro, Kon Masafumi, Narumi Satoshi, Kojima Yoshiyuki, Hayashi Yutaro, Ogata Tsutomu, Fukami Maki
ASIAN JOURNAL OF ANDROLOGY   20(6) 629-+   2018年11月   [査読有り]
Montalbano A, Juergensen L, Fukami M, Thiel CT, Hauer NH, Roeth R, Weiss B, Naiki Y, Ogata T, Hassel D, Rappold GA
European journal of human genetics : EJHG   26(8) 1113-1120   2018年8月   [査読有り]
Shimizu Daisuke, Iwashima Satoru, Sato Keisuke, Hayano Satoshi, Fukami Maki, Saitsu Hirotomo, Ogata Tsutomu
CLINICAL CASE REPORTS   6(11) 2229-2233   2018年11月   [査読有り]
Inoue T, Yagasaki H, Nishioka J, Nakamura A, Matsubara K, Narumi S, Nakabayashi K, Yamazawa K, Fuke T, Oka A, Ogata T, Fukami M, Kagami M
Journal of medical genetics      2018年9月   [査読有り]
Mutation Analysis of Japanese Patients with Leber Congenital Amaurosis by Next Generation Sequencing
Hosono Katsuhiro, Nishina Sachiko, Yokoi Tadashi, Katagiri Satoshi, Kurata Kentaro, Miyamichi Daisuke, Mizobuchi Kei, Nakano Tadashi, Minoshima Shinsei, Fukami Maki, Kondo Hiroyuki, Sato Miho, Hayashi Takaaki, Azuma Noriyuki, Hotta Yoshihiro
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   59(9)    2018年7月   [査読有り]
Sekiguchi K, Itonaga T, Maeda T, Fukami M, Yorifuji T, Ihara K
European journal of medical genetics   61(6) 312-314   2018年6月   [査読有り]
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, Fukami M
Human mutation   39(6) 830-833   2018年6月   [査読有り]
Fukuhara Y, Cho SY, Miyazaki O, Hattori A, Seo JH, Mashima R, Kosuga M, Fukami M, Jin DK, Okuyama T, Nishimura G
Clinical dysmorphology      2018年8月   [査読有り]
Kawashima S, Nakamura A, Inoue T, Matsubara K, Horikawa R, Wakui K, Takano K, Fukushima Y, Tatematsu T, Mizuno S, Tsubaki J, Kure S, Matsubara Y, Ogata T, Fukami M, Kagami M
The Journal of clinical endocrinology and metabolism   103(6) 2083-2088   2018年6月   [査読有り]
Yoshida T, Matsuzaki T, Miyado M, Saito K, Iwasa T, Matsubara Y, Ogata T, Irahara M, Fukami M
Endocrine journal      2018年7月   [査読有り]
Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y
Scientific reports   8(1) 8279   2018年5月   [査読有り]
Ono H, Numakura C, Homma K, Hasegawa T, Tsutsumi S, Kato F, Fujisawa Y, Fukami M, Ogata T
The Journal of steroid biochemistry and molecular biology   178 177-184   2018年4月   [査読有り]
Ushijima K, Fukami M, Ayabe T, Narumi S, Okuno M, Nakamura A, Takahashi T, Ihara K, Ohkubo K, Tachikawa E, Nakayama S, Arai J, Kikuchi N, Kikuchi T, Kawamura T, Urakami T, Hata K, Nakabayashi K, Matsubara Y, Amemiya S, Ogata T, Yokota I, Sugihara S, Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes.
Pediatric diabetes   19(2) 243-250   2018年3月   [査読有り]
Fukami M, Suzuki E, Igarashi M, Miyado M, Ogata T
Clinical endocrinology   88(3) 351-359   2018年3月   [査読有り]
GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly.
Igarashi M, Mizuno K, Kon M, Narumi S, Kojima Y, Hayashi Y, Ogata T, Fukami M
Asian journal of andrology      2018年5月   [査読有り]
Ushijima K, Yatsuga S, Matsumoto T, Nakamura A, Fukami M, Kagami M
Journal of human genetics   63(3) 377-381   2018年3月   [査読有り]
Ohsako S, Aiba T, Miyado M, Fukami M, Ogata T, Hayashi Y, Mizuno K, Kojima Y
Archives of environmental contamination and toxicology   74(2) 240-247   2018年2月   [査読有り]
Shima H, Koehler K, Nomura Y, Sugimoto K, Satoh A, Ogata T, Fukami M, Jühlen R, Schuelke M, Mohnike K, Huebner A, Narumi S
Journal of medical genetics   55(2) 81-85   2018年2月   [査読有り]
Horikawa Y, Enya M, Komagata M, Hashimoto KI, Kagami M, Fukami M, Takeda J
Diabetes therapy : research, treatment and education of diabetes and related disorders   9(1) 421-426   2018年2月   [査読有り]
Ayabe T, Yamamoto-Hanada K, Mezawa H, Konishi M, Ishitsuka K, Saito M, Fukami M, Michikawa T, Yamazaki S, Senju A, Kusuhara K, Kawamoto T, Sanefuji M, Kato K, Oda M, Mitsubuchi H, Katoh T, Monden Y, Mise N, Kayama F, Saito H, Ohya Y
Pediatrics international : official journal of the Japan Pediatric Society   60(1) 30-34   2018年1月   [査読有り]
Yoshii K, Naiki Y, Terada Y, Fukami M, Horikawa R
Endocrine journal   65(2) 221-225   2018年2月   [査読有り]
Yamoto K, Okamoto S, Fujisawa Y, Fukami M, Saitsu H, Ogata T
American journal of medical genetics. Part A   176(1) 139-143   2018年1月   [査読有り]
Sano S, Nakamura A, Matsubara K, Nagasaki K, Fukami M, Kagami M, Ogata T
Journal of the Endocrine Society   2(1) 9-23   2018年1月   [査読有り]
Ono H, Saitsu H, Horikawa R, Nakashima S, Ohkubo Y, Yanagi K, Nakabayashi K, Fukami M, Fujisawa Y, Ogata T
Scientific reports   8(1) 2287   2018年2月   [査読有り]
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
CLINICAL PEDIATRIC ENDOCRINOLOGY   27(1) 9-18   2018年   [査読有り]
Saito K, Fukami M, Miyado M, Ono I, Sumori K
Reproductive medicine and biology   17(1) 89-92   2018年1月   [査読有り]
Miyado M, Muroya K, Katsumi M, Saito K, Kon M, Fukami M
Cytogenetic and genome research   154(3) 122-125   2018年   [査読有り]
Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, Tajima T, Yorifuji T, Numakura C, Mizuno S, Nakamura A, Matsubara K, Fukami M, Ogata T
Genetics in medicine : official journal of the American College of Medical Genetics   19(12) 1356-1366   2017年12月   [査読有り]
Matsubara K, Kagami M, Fukami M
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology   27(3) 113-121   2018年   [査読有り]
Sex Hormone Levels in Young Children: A Pilot Study of the Japan Environment and Children's Study
Ayabe Tadayuki, Fukami Maki, Yamamoto-Hanada Kiwako, Ishitsuka Kazue, Mezawa Hidetoshi, Konishi Mizuho, Saito Mayako, Sasaki Hatoko, Satoh Miori, Nishizato Minaho, Michikawa Takehiro, Yamazaki Shin, Monden Yukifumi, Mise Nathan, Kayama Fujio, Shimono Masayuki, Kusuhara Koichi, Kawamoto Toshihiro, Sanefuji Masafumi, Kato Kiyoko, Oda Masako, Mitsubuchi Hiroshi, Katoh Takahiko, Saito Hirohisa, Ohya Yukihiro
HORMONE RESEARCH IN PAEDIATRICS   90 640   2018年   [査読有り]
Fukami M, Suzuki E, Izumi Y, Torii T, Narumi S, Igarashi M, Miyado M, Katsumi M, Fujisawa Y, Nakabayashi K, Hata K, Umezawa A, Matsubara Y, Yamauchi J, Ogata T
Journal of cellular and molecular medicine   21(10) 2623-2626   2017年10月   [査読有り]
Molecular and Clinical Analyses of Two UPD(16)Mat Patients Detected by Screening of 94 Silver-Russell Syndrome Patients Without Known Etiology
Inoue Takanobu, Yagasaki Hideaki, Nishioka Junko, Nakamura Akie, Matsubara Keiko, Narumi Satoshi, Nakabayashi Kazuhiko, Yamazawa Kazuki, Fuke Tomoko, Oka Akira, Ogata Tsutomu, Fukami Maki, Kagami Masayo
HORMONE RESEARCH IN PAEDIATRICS   90 122-123   2018年   [査読有り]
Dateki S, Kagami M, Matsubara K, Izumi K, Watanabe S, Nakatomi A, Kondoh T, Fukami M, Moriuchi H
Journal of human genetics   62(10) 919-922   2017年10月   [査読有り]
Dual Function of the Retinoic Acid Catabolizing Enzyme CYP26C1-Underlying Idiopathic Short Stature and Modifying Disease Severity in SHOX Deficiency
Montalbano Antonino, Juergensen Lonny, Fukami Maki, Thiel Christian T., Hauer Nadine H., Fricke-Otto Susanne, Binder Gerhard, Naiki Y., Ogata Tsutomu, Hassel David, Rappold Gudrun A.
HORMONE RESEARCH IN PAEDIATRICS   90 425   2018年   [査読有り]
Hattori A, Katoh-Fukui Y, Nakamura A, Matsubara K, Kamimaki T, Tanaka H, Dateki S, Adachi M, Muroya K, Yoshida S, Ida S, Mitani M, Nagasaki K, Ogata T, Suzuki E, Hata K, Nakabayashi K, Matsubara Y, Narumi S, Tanaka T, Fukami M
Endocrine journal   64(10) 947-954   2017年10月   [査読有り]
A First Combination Case of 21-Hydroxilase Deficiency and CHARGE Syndrome Confirmed by Genetic Analysis
Kitamura Miyuki, Katoh-Fukui Yuko, Fukami Maki, Yatsuga Shuichi, Matsumoto Takako, Nishioka Junko, Koga Yasutoshi
HORMONE RESEARCH IN PAEDIATRICS   90 142-143   2018年   [査読有り]
Inoue T, Nakamura A, Matsubara K, Nyuzuki H, Nagasaki K, Oka A, Fukami M, Kagami M
American journal of medical genetics. Part A   173(10) 2847-2850   2017年10月   [査読有り]
Functional Characterization of a Novel KLF11 Mutation Identified in a Family with Autoantibody-Negative Type 1 Diabetes
Ushijima Kikumi, Kawamura Tomoyuki, Ogata Tsutomu, Yokota Lchiro, Sugihar Shigetaka, Narumi Satoshi, Fukami Maki
HORMONE RESEARCH IN PAEDIATRICS   90 84-85   2018年   [査読有り]
Yamoto Kaori, Saitsu Hirotomo, Nakagawa Norio, Nakajima Hisakazu, Hasegawa Tatsuji, Fujisawa Yasuko, Kagami Masayo, Fukami Maki, Ogata Tsutomu
HUMAN MUTATION   38(8) 953-958   2017年8月   [査読有り]
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Six Patients
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, Nagasaki Keisuke, Fukami Maki, Kagami Masayo
HORMONE RESEARCH IN PAEDIATRICS   90 432   2018年   [査読有り]
Yamoto K, Saitsu H, Nakagawa N, Nakajima H, Hasegawa T, Fujisawa Y, Kagami M, Fukami M, Ogata T
Human mutation   38(8) 953-958   2017年8月   [査読有り]
Miyado Mami, Yoshida Kaoru, Miyado Kenji, Katsumi Momori, Saito Kazuki, Nakamura Shigeru, Ogata Tsutomu, Fukami Maki
International Journal of Molecular Sciences   18(6) 1300   2017年6月   [査読有り]
Katoh-Fukui Y, Yatsuga S, Shima H, Hattori A, Nakamura A, Okamura K, Yanagi K, Iso M, Kaname T, Matsubara Y, Fukami M
Human genome variation   5 18006   2018年   [査読有り]
Shima H, Ishii A, Wada Y, Kizawa J, Yokoi T, Azuma N, Matsubara Y, Suzuki E, Nakamura A, Narumi S, Fukami M
Endocrine journal   64(8) 813-817   2017年8月   [査読有り]
Fukami M, Kurahashi H
Methods in molecular biology (Clifton, N.J.)   1769 21-33   2018年   [査読有り]
Okuno M, Kasahara Y, Onodera M, Takubo N, Okajima M, Suga S, Watanabe N, Suzuki J, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi T, Amemiya S, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Ogata T, Fukami M, Sugihara S
Journal of diabetes investigation   8(3) 286-294   2017年5月   [査読有り]
Ohtaka K, Fujisawa Y, Takada F, Hasegawa Y, Miyoshi T, Hasegawa T, Miyoshi H, Kameda H, Kurokawa-Seo M, Fukami M, Ogata T
Human mutation   38(5) 503-506   2017年5月   [査読有り]
Changes in macular structure and retinal function in patients with Leber congenital amaurosis with RPGRIP1 mutations
Miyamichi Daisuke, Nishina Sachiko, Hosono Katsuhiro, Yokoi Tadashi, Kurata Kentaro, Sato Miho, Minoshima Shinsei, Fukami Maki, Hotta Yoshihiro, Azuma Noriyuki
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   58(8)    2017年6月   [査読有り]
Kagami M, Matsubara K, Nakabayashi K, Nakamura A, Sano S, Okamura K, Hata K, Fukami M, Ogata T
Genetics in medicine : official journal of the American College of Medical Genetics   19(4) 476-482   2017年4月   [査読有り]
Saito K, Miyado K, Yamatoya K, Kuwahara A, Inoue E, Miyado M, Fukami M, Ishikawa T, Saito T, Kubota T, Saito H
Journal of assisted reproduction and genetics   34(4) 465-470   2017年4月   [査読有り]
Miyado M, Miyado K, Nakamura A, Fukami M, Yamada G, Oda SI
Reproduction (Cambridge, England)   153(2) 187-195   2017年2月   [査読有り]
Igarashi M, Takasawa K, Hakoda A, Kanno J, Takada S, Miyado M, Baba T, Morohashi KI, Tajima T, Hata K, Nakabayashi K, Matsubara Y, Sekido R, Ogata T, Kashimada K, Fukami M
Human mutation   38(1) 39-42   2017年1月   [査読有り]
Ohishi A, Nishimura G, Kato F, Ono H, Maruwaka K, Ago M, Suzumura H, Hirose E, Uchida Y, Fukami M, Ogata T
American journal of medical genetics. Part A   173(1) 157-162   2017年1月   [査読有り]
Nagai K, Shima H, Kamimura M, Kanno J, Suzuki E, Ishiguro A, Narumi S, Kure S, Fujiwara I, Fukami M
Cytogenetic and genome research   151(1) 1-4   2017年   [査読有り]
Inoue T, Nakamura A, Fuke T, Yamazawa K, Sano S, Matsubara K, Mizuno S, Matsukura Y, Harashima C, Hasegawa T, Nakajima H, Tsumura K, Kizaki Z, Oka A, Ogata T, Fukami M, Kagami M
Clinical epigenetics   9 52   2017年5月   [査読有り]
A MIRAGE SYNDROME PATIENT WITHOUT HEMATOLOGICAL PHENOTYPES: INACTIVATION OF A GERMLINE ACTIVATING SAMD9 MUTATION BY A SOMATICALLY ACQUIRED NONSENSE MUTATION IN HEMATOPOIETIC CELLS
Shima Hirohito, Nomura Yumiko, Sugimoto Kazuhiko, Satoh Akira, Ogata Tsutomu, Fukami Maki, Narumi Satoshi
HORMONE RESEARCH IN PAEDIATRICS   88 49-50   2017年   [査読有り]
Fukami M, Miyado M
Annals of pediatric endocrinology & metabolism   22(2) 90-94   2017年6月   [査読有り]
PARTIAL ANDROGEN INSENSITIVITY SYNDROME IN A FAMILY WITH A DEEP INTRONIC MUTATION CREATING AN ALTERNATIVE SPLICE ACCEPTOR SITE IN THE AR GENE
Ono Hiroyuki, Saitsu Hirotomo, Horikawa Reiko, Nakashima Shinichi, Ohkubo Yumiko, Fukami Maki, Fujisawa Yasuko, Ogata Tsutomu
HORMONE RESEARCH IN PAEDIATRICS   88 203-204   2017年   [査読有り]
A NOVEL MKRN3 MUTATION IN SPORADIC CENTRAL PRECOCIOUS PUBERTY: A FIRST JAPANESE CASE
Kitamura Miyuki, Shima Hirohito, Fukami Maki, Nishioka Junko, Yatsuga Shuichi, Matsumoto Takako, Ushijima Kikumi, Koga Yasutoshi
HORMONE RESEARCH IN PAEDIATRICS   88 187   2017年   [査読有り]
Montalbano A, Juergensen L, Roeth R, Weiss B, Fukami M, Fricke-Otto S, Binder G, Ogata T, Decker E, Nuernberg G, Hassel D, Rappold GA
EMBO molecular medicine   8(12) 1455-1469   2016年12月   [査読有り]
AROMATASE EXCESS SYNDROME (AES) IN A 10-YEAR OLD GIRL WITH GIGANTOMASTIA
Madeira Joao L. O., Silva Caroline C., Otto Aline P., Trarbach Ericka B., Nishi Miriam Y., Gianotti Marcelo, Rocha Rodrigo I., Kulikowski Leslie D., Fukami Maki, Mendonca Berenice B., Carvalho Luciani R.
HORMONE RESEARCH IN PAEDIATRICS   88 369-370   2017年   [査読有り]
Goto M, Yamamoto Y, Ishii M, Nakamura A, Sano S, Kagami M, Fukami M, Saito R, Araki S, Kubo K, Kawagoe R, Kawada Y, Kusuhara K
Pediatrics international : official journal of the Japan Pediatric Society   58(11) 1229-1231   2016年11月   [査読有り]
CLINICAL FEATURES OF TWO JAPANESE PATIENTS WITH MICRODUPLICATIONS OF 5Q35.2-Q35.3 ENCOMPASSING NSD1
Yamamoto Sayaka, Nakamura Akie, Aoyagi Hayato, Shida Satoru, Ueda Yasuhiro, Yamaguchi Takeshi, Morikawa Shuntaro, Ishizu Katsura, Kagami Masayo, Fukami Maki, Tajima Toshihiro
HORMONE RESEARCH IN PAEDIATRICS   88 382   2017年   [査読有り]
Naiki Y, Miyado M, Horikawa R, Katsumata N, Onodera M, Pang S, Ogata T, Fukami M
Endocrine journal   63(10) 897-904   2016年10月   [査読有り]
SCREENING OF MONOGENIC MUTATIONS IN PATIENTS WITH IDIOPATHIC SHORT STATURE
Hattori Atsushi, Shima Hirohito, Katoh-Fukui Yuko, Nakamura Akie, Suzuki Erina, Matsubara Keiko, Adachi Masanori, Dateki Sumito, Hamajima Takashi, Horikawa Reiko, Ida Shinobu, Kamimaki Tsutomu, Mitani Marie, Muroya Koji, Ogata Tsutomu, Tajima Toshihiro, Tanaka Hiroyuki, Uetake Kimiaki, Yagasaki Hideaki, Yoshida Shinobu, Tanaka Toshiaki, Fukami Maki
HORMONE RESEARCH IN PAEDIATRICS   88 487-488   2017年   [査読有り]
Fujisawa Y, Fukami M, Hasegawa T, Uematsu A, Muroya K, Ogata T
Endocrine journal   63(9) 835-839   2016年9月   [査読有り]
PROTEIN-TRUNCATING MUTATION IN "GENE A" IN A GIRL WITH CENTRAL PRECOCIOUS PUBERTY: IMPLICATIONS FOR A NOVEL GAIN-OF-FUNCTION MECHANISM OF G-PROTEIN COUPLED RECEPTORS
Fukami Maki, Suzuki Erina, Izumi Yoko, Torii Tomohiro, Igarashi Maki, Miyado Mami, Narumi Satoshi, Katsumi Momori, Yamauchi Junji, Fujisawa Yasuko, Ogata Tsutomu
HORMONE RESEARCH IN PAEDIATRICS   88 547   2017年   [査読有り]
Sano S, Matsubara K, Nagasaki K, Kikuchi T, Nakabayashi K, Hata K, Fukami M, Kagami M, Ogata T
Journal of human genetics   61(8) 765-769   2016年8月   [査読有り]
46,XY DISORDERS OF SEX DEVELOPMENT IN 6 VIETNAMESE PATIENTS DUE TO CHROMOSOME REARRANGEMENT
Dung Chi Vu, Nguyen Khanh N., Bui Thao P., Can Ngoc T. B., Do Mai T. T., Nguyen Ha T., Nguyen Dat P., Le Hai T., Bui Xuan T., Fukami Maki
HORMONE RESEARCH IN PAEDIATRICS   88 563   2017年   [査読有り]
Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, Kanno J, Adachi M, Naiki Y, Tanaka H, Mabe H, Yagasaki H, Kure S, Matsubara Y, Tajima T, Kashimada K, Ishii T, Asakura Y, Fujiwara I, Soneda S, Nagasaki K, Hamajima T, Kanzaki S, Jinno T, Ogata T, Fukami M, Japanese SHOX study group.
Journal of human genetics   61(7) 585-591   2016年7月   [査読有り]
Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Kubota T, Irahara M, Ogata T, Fukami M
Clinical endocrinology   85(1) 151-152   2016年7月   [査読有り]
Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T
Nature genetics   48(7) 792-797   2016年7月   [査読有り]
Suzuki E, Bo R, Sue K, Awano H, Ogata T, Narumi S, Kagami M, Sano S, Fukami M
Cytogenetic and genome research   153(3) 125-130   2017年   [査読有り]
Nakamura A, Hamaguchi E, Horikawa R, Nishimura Y, Matsubara K, Sano S, Nagasaki K, Matsubara Y, Umezawa A, Tajima T, Ogata T, Kagami M, Okamura K, Fukami M
The Journal of clinical endocrinology and metabolism   101(7) 2623-2627   2016年7月   [査読有り]
Takasawa K, Igarashi M, Ono M, Takemoto A, Takada S, Yamataka A, Ogata T, Morio T, Fukami M, Kashimada K
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation   11(5-6) 284-288   2017年   [査読有り]
Okuno M, Yorifuji T, Kagami M, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi T, Amemiya S, Suzuki J, Ogata T, Sugihara S, Fukami M, Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT).
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology   25(3) 99-102   2016年7月   [査読有り]
Fujisawa Y, Sakaguchi K, Ono H, Yamaguchi R, Kato F, Kagami M, Fukami M, Ogata T
The Journal of steroid biochemistry and molecular biology   159 86-93   2016年5月   [査読有り]
Maruo Y, Nagasaki K, Matsui K, Mimura Y, Mori A, Fukami M, Takeuchi Y
European journal of endocrinology   174(4) 453-463   2016年4月   [査読有り]
Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Hasegawa T, Homma K, Inoue E, Miyashiro Y, Kubota T, Irahara M, Ogata T, Fukami M
The Journal of steroid biochemistry and molecular biology   158 31-37   2016年4月   [査読有り]
Fukami M, Seki A, Ogata T
Molecular syndromology   7(1) 3-11   2016年4月   [査読有り]
Koyama Y, Homma K, Fukami M, Miwa M, Ikeda K, Ogata T, Murata M, Hasegawa T
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology   25(2) 37-44   2016年4月   [査読有り]
Kon M, Saito K, Mitsui T, Miyado M, Igarashi M, Moriya K, Nonomura K, Shinohara N, Ogata T, Fukami M
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation   10(1) 12-15   2016年   [査読有り]
Hattori A, Zukeran H, Igarashi M, Toguchi S, Toubaru Y, Inoue T, Katoh-Fukui Y, Fukami M
Human genome variation   4 17008   2017年   [査読有り]
Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N, Suzuki E, Hata K, Nakabayashi K, Momozawa Y, Kubo M, Okamura K, Kure S, Matsubara Y, Ogata T, Narumi S, Fukami M
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation   10(4) 205-209   2016年   [査読有り]
Nishioka J, Shima H, Fukami M, Yatsuga S, Matsumoto T, Ushijima K, Kitamura M, Koga Y
Human genome variation   4 17017   2017年   [査読有り]
Miyado M, Inui M, Igarashi M, Katoh-Fukui Y, Takasawa K, Hakoda A, Kanno J, Kashimada K, Miyado K, Tamano M, Ogata T, Takada S, Fukami M
Biology of sex differences   7 56   2016年11月   [査読有り]
NR0B1 Frameshift Mutation in a Boy with Precocious Puberty and Normal Adrenal Function
Shima Hirohito, Yatsuga Shuichi, Nakamura Akie, Sano Shinichiro, Sasaki Takako, Katsumata Noriyuki, Suzuki Erina, Ogata Tsutomu, Fukami Maki
HORMONE RESEARCH IN PAEDIATRICS   86 118-119   2016年   [査読有り]
Nagata E, Haga N, Fujisawa Y, Fukami M, Nishimura G, Ogata T
American journal of medical genetics. Part A   167A(12) 3226-3228   2015年12月   [査読有り]
FGFR1 Loss-of-Function Mutations of in Three Japanese Patients with Isolated Hypogonadotropic Hypogonadism and Split Hand/Foot Malformation
Ohtaka Kohnosuke, Yamaguchi Rie, Yagasaki Hideaki, Miyoshi Tatsuya, Hasegawa Hiroyuki, Hasegawa Tomonobu, Miyoshi Hideaki, Fukami Maki, Ogata Tsutomu
HORMONE RESEARCH IN PAEDIATRICS   86 417   2016年   [査読有り]
Suzuki E, Shima H, Toki M, Hanew K, Matsubara K, Kurahashi H, Narumi S, Ogata T, Kamimaki T, Fukami M
Cytogenetic and genome research   150(2) 86-92   2016年   [査読有り]
Yeşiltepe Mutlu G, Kırmızıbekmez H, Nakamura A, Fukami M, Hatun Ş
Journal of clinical research in pediatric endocrinology   7(4) 344-348   2015年12月   [査読有り]
Katoh-Fukui Y, Igarashi M, Nagasaki K, Horikawa R, Nagai T, Tsuchiya T, Suzuki E, Miyado M, Hata K, Nakabayashi K, Hayashi K, Matsubara Y, Baba T, Morohashi K, Igarashi A, Ogata T, Takada S, Fukami M
Molecular genetics & genomic medicine   3(6) 550-557   2015年11月   [査読有り]
Miyado M, Miyado K, Katsumi M, Saito K, Nakamura A, Shihara D, Ogata T, Fukami M
Scientific reports   5 14705   2015年10月   [査読有り]
Fukami M, Naiki Y, Muroya K, Hamajima T, Soneda S, Horikawa R, Jinno T, Katsumi M, Nakamura A, Asakura Y, Adachi M, Ogata T, Kanzaki S, Japanese SHOX study group.
Journal of human genetics   60(9) 553-556   2015年9月   [査読有り]
Kagami M, Mizuno S, Matsubara K, Nakabayashi K, Sano S, Fuke T, Fukami M, Ogata T
European journal of human genetics : EJHG   23(8) 1062-1067   2015年8月   [査読有り]
Igarashi M, Mikami H, Katsumi M, Miyado M, Izumi Y, Ogata T, Fukami M
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation   9(3) 125-129   2015年   [査読有り]
Igarashi M, Wada Y, Kojima Y, Miyado M, Nakamura M, Muroya K, Mizuno K, Hayashi Y, Nonomura K, Kohri K, Ogata T, Fukami M
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation   9(3) 130-135   2015年   [査読有り]
Izumi Y, Musha I, Suzuki E, Iso M, Jinno T, Horikawa R, Amemiya S, Ogata T, Fukami M, Ohtake A
Endocrine   49(2) 553-556   2015年6月   [査読有り]

Misc

 
笠原 群生, 阪本 靖介, 福田 晃也, 藤野 明浩, 金森 豊, 菱木 知郎, 堀川 玲子, 野坂 俊介, 宮入 烈, 鈴木 康之, 中川 聡, 西村 奈穂, 植松 悟子, 小野 博, 今留 謙一, 入江 理恵, 義岡 孝子, 石黒 精, 松本 公一, 李 小康, 絵野沢 伸, 深見 真紀, 阿久津 英憲, 斎藤 博久, 梅澤 明弘, 石川 洋一, 松谷 弘子, 松原 洋一, 斉藤 和幸, 賀藤 均, 五十嵐 隆
医療 = Japanese journal of National Medical Services : 国立医療学会誌   72(3) 99-104   2018年3月
齊藤 和毅, 深見 真紀
日本生殖内分泌学会雑誌   21 36-38   2016年
緒方 勤, 深見 真紀
産婦人科の実際   64(10) 1301-1307   2015年10月

社会貢献活動

 
Molecular Syndromology
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Molecular Cellular Pediatrics
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Hormone Research in Pediatrics
【編集】
Clinical Pediatric Endocrinology
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日本小児科学会誌
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