Maki Fukami

Department of Endocrinology|National Research Institute for Child Health

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Papers193 papers

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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

Kikumi Ushijima, Yuya Ogawa, Miho Terao,Yumi Asakura,Koji Muroya, Mie Hayashi,Tomohiro Ishii,Tomonobu Hasegawa,Ryohei Sekido,Maki Fukami,Shuji Takada,Satoshi Narumi

American journal of medical genetics. Part A, (2021)

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De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions

Akira Ohishi, Yohei Masunaga,Shigeo Iijima, Kaori Yamoto, Fumiko Kato,Maki Fukami,Hirotomo Saitsu,Tsutomu Ogata

Journal of Human Genetics, no. 2 (2020): 1-6

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Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report

Noboru Uchida, Takuma Ohnishi,Takuro Kojima,Tsutomu Takahashi,Yoshio Makita,Maki Fukami,Hironori Shibata,Tomonobu Hasegawa,Tomohiro Ishii

Clinical Pediatric Endocrinology, no. 4 (2020): 179-182

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45,X/46,X,psu idic(Y)(q11.2) in a phenotypically normal male with short stature: a case report

Yasuhiro Kawabe, Mihoko Yamaguchi, Satoshi Miyagaki, Takeshi Ota, Hidechika Morimoto, Atsushi Hattori,Maki Fukami,Jun Mori

Clinical Pediatric Endocrinology, no. 4 (2020): 189-193

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Role of imprinting disorders in short children born SGA and Silver-Russell syndrome spectrum

Tomoko Fuke,Akie Nakamura,Takanobu Inoue, Sayaka Kawashima, Kaori Isono Hara,Keiko Matsubara,Shinichiro Sano,Kazuki Yamazawa,Maki Fukami,Tsutomu Ogata,Masayo Kagami

The Journal of clinical endocrinology and metabolism, (2020)

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A novel GNAS duplication associated with loss-of-methylation restricted to exon A/B causes pseudohypoparathyroidism type Ib (PHP1B)

Monica Reyes,Masayo Kagami, Sayaka Kawashima, Johanna Pallotta,Dirk Schnabel,Maki Fukami,Harald Jüppner

Journal of bone and mineral research : the official journal of the American Society for Bone and Min..., (2020)

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Circulating steroids and mood disorders in patients with polycystic ovary syndrome

Tomoko Yoshida,Kazuki Saito, Toshihiro Kawamura,Tomonori Ishikawa, Tsuguhiko Kato,Keiko Matsubara,Naoyuki Miyasaka,Mami Miyado,Maki Fukami

Steroids, (2020): 108748-108748

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Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome

Kaori Hara-Isono,Keiko Matsubara, Tomoko Fuke,Kazuki Yamazawa, Kazuhito Satou,Nobuyuki Murakami,Shinji Saitoh,Kazuhiko Nakabayashi,Kenichiro Hata,Tsutomu Ogata,Maki Fukami,Masayo Kagami

Clinical epigenetics, no. 1 (2020): 159

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Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3

Jessica Omark, Yohei Masunaga, Mark Hannibal, Brandon Shaw,Maki Fukami,Fumiko Kato,Hirotomo Saitsu,Masayo Kagami,Tsutomu Ogata

Journal of human genetics, (2020)

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Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development

Maki Igarashi, Yohei Masunaga, Yuichi Hasegawa, Kenichi Kinjo,Mami Miyado,Hirotomo Saitsu, Yuko Kato-Fukui,Reiko Horikawa, Yomiko Okubo,Tsutomu Ogata,Maki Fukami

Scientific reports, no. 1 (2020): 17375-17375

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Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism

Muhammad Nazmul Haque,Masafumi Ohtsubo,Sachiko Nishina, Shiro Nakao, Kazue Yoshida,Katsuhiro Hosono, Kentaro Kurata, Kentaro Ohishi,Maki Fukami,Miho Sato,Yoshihiro Hotta,Noriyuki Azuma

Journal of human genetics, pp.1-10, (2020)

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TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts

Hiroki Uchiyama, Yohei Masunaga,Takamichi Ishikawa, Tetsuya Fukuoka,Maki Fukami,Hirotomo Saitsu, Tsutomu Ogat

European journal of medical genetics, no. 11 (2020): 104060

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WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome

Akito Sutani,Hirohito Shima,Atsushi Hijikata,Susumu Hosokawa,Yuko Katoh-Fukui,Kei Takasawa,Erina Suzuki,Shozaburo Doi,Tsuyoshi Shirai,Tomohiro Morio,Maki Fukami,Kenichi Kashimada

European Journal of Medical Genetics, no. 1 (2020): 103626

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Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature

Sayaka Kawashima,Hiroko Yagi, Yasuhiro Hirano, Machiko Toki, Kei Izumi,Sumito Dateki,Noriyuki Namba,Tsutomu Kamimaki,Koji Muroya,Toshiaki Tanaka,Maki Fukami,Masayo Kagami

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, no. 10 (2020): 1335-1339

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Foetal virilisation caused by overproduction of non-aromatisable 11-oxygenated C19 steroids in maternal adrenal tumour

Keisuke Nagasaki, Kaoru Takase,Chikahiko Numakura, Keiko Homma,Tomonobu Hasegawa,Maki Fukami

Human reproduction (Oxford, England), no. 11 (2020): 2609-2612

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Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies

Megumi Iwahashi-Odano,Keisuke Nagasaki,Maki Fukami,Junko Nishioka, Shuichi Yatsuga,Yumi Asakura,Masanori Adachi,Koji Muroya,Tomonobu Hasegawa,Satoshi Narumi

The Journal of clinical endocrinology and metabolism, no. 11 (2020)

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Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years

Kaori Hara-Isono,Keiko Matsubara, Masashi Mikami,Takahiro Arima,Tsutomu Ogata,Maki Fukami,Masayo Kagami

Clinical Epigenetics, no. 1 (2020): 1-10

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Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency

Kenichi Kinjo,Keisuke Nagasaki,Koji Muroya,Erina Suzuki, Keisuke Ishiwata,Kazuhiko Nakabayashi, Atsushi Hattori, Koji Nagao, Ryu-Suke Nozawa, Chikashi Obuse,Kenji Miyado,Tsutomu Ogata

Scientific reports, no. 1 (2020): 10985

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Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

Takanobu Inoue,Akie Nakamura, Megumi Iwahashi-Odano,Kanako Tanase-Nakao,Keiko Matsubara,Junko Nishioka,Yoshihiro Maruo,Yukihiro Hasegawa, Hiroshi Suzumura, Seiji Sato, Yoshiyuki Kobayashi,Nobuyuki Murakami

Clinical Epigenetics, no. 1 (2020): 1-14

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Established and Novel Mechanisms Leading to de novo Genomic Rearrangements in the Human Germline

Atsushi Hattori,Maki Fukami

CYTOGENETIC AND GENOME RESEARCH, no. 4 (2020): 167-176

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Papers193 papers

Maki Fukami