Maki Fukami


Maki Fukami

J-GLOBAL         Last updated: Oct 2, 2019 at 20:09
 
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Name
Maki Fukami
E-mail
fukami-mncchd.go.jp
Affiliation
National Center for Child Health and Development
Research funding number
40265872

Published Papers

 
Shimizu D, Sakamoto R, Yamoto K, Saitsu H, Fukami M, Nishimura G, Ogata T
Journal of human genetics   64(10) 1041-1044   Oct 2019   [Refereed]
Ogushi K, Muroya K, Shima H, Jinno T, Miyado M, Fukami M
American journal of medical genetics. Part A   179(9) 1778-1782   Sep 2019   [Refereed]
Masunaga Y, Inoue T, Yamoto K, Fujisawa Y, Sato Y, Kawashima-Sonoyama Y, Morisada N, Iijima K, Ohata Y, Namba N, Suzumura H, Kuribayashi R, Yamaguchi Y, Yoshihashi H, Fukami M, Saitsu H, Kagami M, Ogata T
The Journal of clinical endocrinology and metabolism      Sep 2019   [Refereed]
Umino S, Kitamura M, Katoh-Fukui Y, Fukami M, Usui T, Yatsuga S, Koga Y
Molecular genetics & genomic medicine   7(6) e730   May 2019   [Refereed]
Ushijima K, Narumi S, Ogata T, Yokota I, Sugihara S, Kaname T, Horikawa Y, Matsubara Y, Fukami M, Kawamura T, Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes.
Pediatric diabetes   20(6) 712-719   May 2019   [Refereed]
Ogushi K, Hattori A, Suzuki E, Shima H, Izawa M, Yagasaki H, Horikawa R, Uetake K, Umezawa A, Ishii T, Muroya K, Namba N, Tanaka T, Hirano Y, Yamamoto H, Soneda S, Matsubara K, Kagami M, Miyado M, Fukami M
Cytogenetic and genome research   158(2) 56-62   Jun 2019   [Refereed]
T Yoshida, M Miyado, M Mikami, E Suzuki, K Kinjo, K Matsubara, T Ogata, H Akutsu, M Kagami, M Fukami
Human Reproduction      Sep 2019   [Refereed]
Aiba T, Saito T, Hayashi A, Sato S, Yunokawa H, Fukami M, Hayashi Y, Mizuno K, Sato Y, Kojima Y, Ohsako S
The Journal of reproduction and development      Aug 2019   [Refereed]
Hattori A, Okamura K, Terada Y, Tanaka R, Katoh-Fukui Y, Matsubara Y, Matsubara K, Kagami M, Horikawa R, Fukami M
BMC medical genomics   12(1) 77   May 2019   [Refereed]
Saito K, Kuwahara A, Ishikawa T, Morisaki N, Miyado M, Miyado K, Fukami M, Miyasaka N, Ishihara O, Irahara M, Saito H
Human reproduction (Oxford, England)   34(8) 1567-1575   Jul 2019   [Refereed]
Yamoto K, Saitsu H, Nishimura G, Kosaki R, Takayama S, Haga N, Tonoki H, Okumura A, Horii E, Okamoto N, Suzumura H, Ikegawa S, Kato F, Fujisawa Y, Nagata E, Takada S, Fukami M, Ogata T
European journal of human genetics : EJHG      Jul 2019   [Refereed]
K. Akiba, K. Ushijima, M. Fukami, Y. Hasegawa
Diabetic Medicine      Jun 2019   [Refereed]
Mitani M, Shima H, Sato T, Inoguchi T, Kamimaki T, Fukami M, Hasegawa T
Journal of pediatric endocrinology & metabolism : JPEM   32(4) 415-419   Mar 2019   [Refereed]
Kagami M, Yanagisawa A, Ota M, Matsuoka K, Nakamura A, Matsubara K, Nakabayashi K, Takada S, Fukami M, Ogata T
Clinical epigenetics   11(1) 42   Mar 2019   [Refereed]
Miyado M, Fukami M, Takada S, Terao M, Nakabayashi K, Hata K, Matsubara Y, Tanaka Y, Sasaki G, Nagasaki K, Shiina M, Ogata K, Masunaga Y, Saitsu H, Ogata T
Journal of the American Society of Nephrology : JASN   30(5) 877-889   Apr 2019   [Refereed]
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
Human molecular genetics   28(14) 2319-2329   Apr 2019   [Refereed]
Yoshii K, Matsumoto H, Hirasawa K, Sakauchi M, Hara H, Ito S, Osawa M, Fukami M, Horikawa R, Nagata S
Respiratory investigation   57(4) 395-398   Apr 2019   [Refereed]
Katoh-Fukui Y, Baba T, Sato T, Otake H, Nagakui-Noguchi Y, Shindo M, Suyama M, Ohkawa Y, Tsumura H, Morohashi KI, Fukami M
Bone   120 219-231   Mar 2019   [Refereed]
Adachi M, Fukami M, Kagami M, Sho N, Yamazaki Y, Tanaka Y, Asakura Y, Hanakawa J, Muroya K
Journal of pediatric endocrinology & metabolism : JPEM   32(2) 191-196   Feb 2019   [Refereed]
Matsubara K, Itoh M, Shimizu K, Saito S, Enomoto K, Nakabayashi K, Hata K, Kurosawa K, Ogata T, Fukami M, Kagami M
Clinical epigenetics   11(1) 36   Feb 2019   [Refereed]
Uehara E, Hattori A, Shima H, Ishiguro A, Abe Y, Ogata T, Ogawa E, Fukami M
Cytogenetic and genome research   158(3) 115-120   2019   [Refereed]
Saito-Hakoda A, Kanno J, Suzuki D, Kawashima S, Kamimura M, Hirano K, Sakai K, Igarashi M, Fukami M, Fujiwara I
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation   13(2) 60-66   Feb 2019   [Refereed]
Tanase-Nakao K, Mizuno K, Hayashi Y, Kojima Y, Hara M, Matsumoto K, Matsubara Y, Igarashi M, Miyado M, Fukami M
Endocrine journal   66(4) 387-393   Feb 2019   [Refereed]
Shimizu Daisuke, Iwashima Satoru, Sato Keisuke, Hayano Satoshi, Fukami Maki, Saitsu Hirotomo, Ogata Tsutomu
CLINICAL CASE REPORTS   6(11) 2229-2233   Nov 2018   [Refereed]
Sutani A, Shima H, Hijikata A, Hosokawa S, Katoh-Fukui Y, Takasawa K, Suzuki E, Doi S, Shirai T, Morio T, Fukami M, Kashimada K
European journal of medical genetics      Jan 2019   [Refereed]
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
Human genome variation   6 7   Jan 2019   [Refereed]
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   Aug 2018   [Refereed]
Naiki Y, Fukami M
The Journal of clinical endocrinology and metabolism   104(6) 1926-1927   Dec 2018   [Refereed]
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   Aug 2018   [Refereed]
Igarashi Maki, Mizuno Kentaro, Kon Masafumi, Narumi Satoshi, Kojima Yoshiyuki, Hayashi Yutaro, Ogata Tsutomu, Fukami Maki
ASIAN JOURNAL OF ANDROLOGY   20(6) 629-+   Nov 2018   [Refereed]
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) e0206184   Nov 2018   [Refereed]
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   56(6) 413-418   Sep 2018   [Refereed]
Sekiguchi K, Itonaga T, Maeda T, Fukami M, Yorifuji T, Ihara K
European journal of medical genetics   61(6) 312-314   Jun 2018   [Refereed]
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)    Jul 2018   [Refereed]
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   Jun 2018   [Refereed]
Fukuhara Y, Cho SY, Miyazaki O, Hattori A, Seo JH, Mashima R, Kosuga M, Fukami M, Jin DK, Okuyama T, Nishimura G
Clinical dysmorphology   28(1) 26-29   Aug 2018   [Refereed]
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   Jun 2018   [Refereed]
Yoshida T, Matsuzaki T, Miyado M, Saito K, Iwasa T, Matsubara Y, Ogata T, Irahara M, Fukami M
Endocrine journal   65(10) 979-990   Jul 2018   [Refereed]
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   May 2018   [Refereed]
Fukami M, Suzuki E, Igarashi M, Miyado M, Ogata T
Clinical endocrinology   88(3) 351-359   Mar 2018   [Refereed]
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   Apr 2018   [Refereed]
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   Mar 2018   [Refereed]
Ushijima K, Yatsuga S, Matsumoto T, Nakamura A, Fukami M, Kagami M
Journal of human genetics   63(3) 377-381   Mar 2018   [Refereed]
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   Feb 2018   [Refereed]
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   Feb 2018   [Refereed]
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   Feb 2018   [Refereed]
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   Jan 2018   [Refereed]
Yoshii K, Naiki Y, Terada Y, Fukami M, Horikawa R
Endocrine journal   65(2) 221-225   Feb 2018   [Refereed]
Yamoto K, Okamoto S, Fujisawa Y, Fukami M, Saitsu H, Ogata T
American journal of medical genetics. Part A   176(1) 139-143   Jan 2018   [Refereed]
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   Feb 2018   [Refereed]
Sano S, Nakamura A, Matsubara K, Nagasaki K, Fukami M, Kagami M, Ogata T
Journal of the Endocrine Society   2(1) 9-23   Jan 2018   [Refereed]
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   [Refereed]
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   Oct 2017   [Refereed]
Miyado M, Muroya K, Katsumi M, Saito K, Kon M, Fukami M
Cytogenetic and genome research   154(3) 122-125   2018   [Refereed]
Saito K, Fukami M, Miyado M, Ono I, Sumori K
Reproductive medicine and biology   17(1) 89-92   Jan 2018   [Refereed]
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   Dec 2017   [Refereed]
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   [Refereed]
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   [Refereed]
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   Oct 2017   [Refereed]
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   [Refereed]
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   Oct 2017   [Refereed]
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   [Refereed]
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   Oct 2017   [Refereed]
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   [Refereed]
Miyado Mami, Yoshida Kaoru, Miyado Kenji, Katsumi Momori, Saito Kazuki, Nakamura Shigeru, Ogata Tsutomu, Fukami Maki
International Journal of Molecular Sciences   18(6) 1300   Jun 2017   [Refereed]
Yamoto Kaori, Saitsu Hirotomo, Nakagawa Norio, Nakajima Hisakazu, Hasegawa Tatsuji, Fujisawa Yasuko, Kagami Masayo, Fukami Maki, Ogata Tsutomu
HUMAN MUTATION   38(8) 953-958   Aug 2017   [Refereed]
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   [Refereed]
Yamoto K, Saitsu H, Nakagawa N, Nakajima H, Hasegawa T, Fujisawa Y, Kagami M, Fukami M, Ogata T
Human mutation   38(8) 953-958   Aug 2017   [Refereed]
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   [Refereed]
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   Aug 2017   [Refereed]
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   [Refereed]
Fukami M, Kurahashi H
Methods in molecular biology (Clifton, N.J.)   1769 21-33   2018   [Refereed]
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   May 2017   [Refereed]
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   May 2017   [Refereed]
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   Apr 2017   [Refereed]
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)    Jun 2017   [Refereed]
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   Apr 2017   [Refereed]
Miyado M, Miyado K, Nakamura A, Fukami M, Yamada G, Oda SI
Reproduction (Cambridge, England)   153(2) 187-195   Feb 2017   [Refereed]
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   Jan 2017   [Refereed]
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   Jan 2017   [Refereed]
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   [Refereed]
Fukami M, Miyado M
Annals of pediatric endocrinology & metabolism   22(2) 90-94   Jun 2017   [Refereed]
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   May 2017   [Refereed]
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   [Refereed]
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   [Refereed]
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   [Refereed]
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   Dec 2016   [Refereed]
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   [Refereed]
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   Nov 2016   [Refereed]
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   [Refereed]
Naiki Y, Miyado M, Horikawa R, Katsumata N, Onodera M, Pang S, Ogata T, Fukami M
Endocrine journal   63(10) 897-904   Oct 2016   [Refereed]
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   [Refereed]
Fujisawa Y, Fukami M, Hasegawa T, Uematsu A, Muroya K, Ogata T
Endocrine journal   63(9) 835-839   Sep 2016   [Refereed]
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   [Refereed]
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   Aug 2016   [Refereed]
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   [Refereed]
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   Jul 2016   [Refereed]
Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Kubota T, Irahara M, Ogata T, Fukami M
Clinical endocrinology   85(1) 151-152   Jul 2016   [Refereed]

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   Mar 2018
齊藤 和毅, 深見 真紀
ホルモンと臨床   63(1) 43-48   Jan 2015
島 彦仁, 深見 真紀
ホルモンと臨床   63(1) 7-12   Jan 2015
藤澤 泰子, 小野 裕之, 山口 理恵, 加藤 芙美子, 鏡 雅代, 深見 真紀, 緒方 勤
ホルモンと臨床   63(1) 49-53   Jan 2015
OHYAMA Kenji, FUKAMI Maki, OGATA Tsutomu
日本小児科学会雑誌   117(9) 1403-1408   Sep 2013

Social Contribution

 
Molecular Syndromology
[Editor]
Molecular Cellular Pediatrics
[Editor]
Hormone Research in Pediatrics
[Editor]
Clinical Pediatric Endocrinology
[Editor]