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Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum.
Published in:
2021
By:
- Tomoko Fuke;
- Akie Nakamura;
- Takanobu Inoue;
- Sayaka Kawashima;
- Kaori Isono Hara;
- Keiko Matsubara;
- Shinichiro Sano;
- Kazuki Yamazawa;
- Maki Fukami;
- Tsutomu Ogata;
- Masayo Kagami;
- Fuke, Tomoko;
- Nakamura, Akie;
- Inoue, Takanobu;
- Kawashima, Sayaka;
- Hara, Kaori Isono;
- Matsubara, Keiko;
- Sano, Shinichiro;
- Yamazawa, Kazuki;
- Fukami, Maki
Publication type:
journal article
Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 8, p. e3121, doi. 10.1210/clinem/dgac319
By:
- Kaori Hara-Isono;
- Akie Nakamura;
- Tomoko Fuke;
- Takanobu Inoue;
- Sayaka Kawashima;
- Keiko Matsubara;
- Shinichiro Sano;
- Kazuki Yamazawa;
- Maki Fukami;
- Tsutomu Ogata;
- Masayo Kagami
Publication type:
Article
A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1.
Published in:
Sexual Development, 2019, v. 13, n. 2, p. 60, doi. 10.1159/000496777
By:
- Saito-Hakoda, akiko;
- Kanno, Junko;
- Suzuki, Dai;
- Kawashima, Sayaka;
- Kamimura, Miki;
- Hirano, Koji;
- Sakai, Kiyohide;
- Igarashi, Maki;
- Fukami, Maki;
- Fujiwara, Ikuma
Publication type:
Article
Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 10, p. 1335, doi. 10.1515/jpem-2020-0198
By:
- Kawashima, Sayaka;
- Yagi, Hiroko;
- Hirano, Yasuhiro;
- Toki, Machiko;
- Izumi, Kei;
- Dateki, Sumito;
- Namba, Noriyuki;
- Kamimaki, Tsutomu;
- Muroya, Koji;
- Tanaka, Toshiaki;
- Fukami, Maki;
- Kagami, Masayo
Publication type:
Article
(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.
Published in:
European Journal of Endocrinology, 2023, v. 189, n. 6, p. 590, doi. 10.1093/ejendo/lvad163
By:
- Tatsuki Urakawa;
- Shinichiro Sano;
- Sayaka Kawashima;
- Akie Nakamura;
- Hirohito Shima;
- Motoki Ohta;
- Yuki Yamada;
- Ai Nishida;
- Hiromune Narusawa;
- Yoshiaki Ohtsu;
- Keiko Matsubara;
- Sumito Dateki;
- Yoshihiro Maruo;
- Maki Fukami;
- Tsutomu Ogata;
- Masayo Kagami
Publication type:
Article
Primary pyomyositis in an infant following one-day afebrile upper limb monoplegia.
Published in:
Journal of Medical Investigation, 2021, v. 68, n. 3/4, p. 372, doi. 10.2152/jmi.68.372
By:
- Yusuke Takezawa;
- Soh Niitsuma;
- Sayaka Kawashima;
- Shunsuke Miyano;
- Takashi Honma
Publication type:
Article
Course of postoperative relapse in non‐small cell lung cancer is strongly associated with post‐progression survival.
Published in:
Thoracic Cancer, 2021, v. 12, n. 20, p. 2740, doi. 10.1111/1759-7714.14119
By:
- Imai, Hisao;
- Onozato, Ryoichi;
- Kaira, Kyoichi;
- Kawashima, Sayaka;
- Masubuchi, Ken;
- Nagashima, Toshiteru;
- Tajima, Kohei;
- Minato, Koichi
Publication type:
Article
Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.
Published in:
Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01744-5
By:
- Urakawa, Tatsuki;
- Soejima, Hidenobu;
- Yamoto, Kaori;
- Hara-Isono, Kaori;
- Nakamura, Akie;
- Kawashima, Sayaka;
- Narusawa, Hiromune;
- Kosaki, Rika;
- Nishimura, Yutaka;
- Yamazawa, Kazuki;
- Hattori, Tetsuo;
- Muramatsu, Yukako;
- Inoue, Takanobu;
- Matsubara, Keiko;
- Fukami, Maki;
- Saitoh, Shinji;
- Ogata, Tsutomu;
- Kagami, Masayo
Publication type:
Article
(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.
Published in:
Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0039-9
By:
- Suzuki, Erina;
- Shima, Hirohito;
- Kagami, Masayo;
- Soneda, Shun;
- Tanaka, Toshiaki;
- Yatsuga, Shuichi;
- Nishioka, Junko;
- Oto, Yuji;
- Kamiya, Toshiya;
- Naiki, Yasuhiro;
- Ogata, Tsutomu;
- Fujisawa, Yasuko;
- Nakamura, Akie;
- Kawashima, Sayaka;
- Morikawa, Shuntaro;
- Horikawa, Reiko;
- Sano, Shinichiro;
- Fukami, Maki
Publication type:
Article
Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements.
Published in:
Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01121-6
By:
- Kawashima, Sayaka;
- Hattori, Atsushi;
- Suzuki, Erina;
- Matsubara, Keiko;
- Toki, Machiko;
- Kosaki, Rika;
- Hasegawa, Yukihiro;
- Nakabayashi, Kazuhiko;
- Fukami, Maki;
- Kagami, Masayo
Publication type:
Article
A case of 49,XXXYY followed-up from infancy to adulthood with review of literature.
Published in:
Endocrine Journal, 2024, v. 71, n. 7, p. 721, doi. 10.1507/endocrj.EJ24-0015
By:
- Junko Kanno;
- Akinobu Miura;
- Sayaka Kawashima;
- Hirohito Shima;
- Dai Suzuki;
- Miki Kamimura;
- Ikuma Fujiwara;
- Masayuki Kamimura;
- Mitsugu Uematsu;
- Masataka Kudo;
- Atsuo Kikuchi
Publication type:
Article
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients.
Published in:
2018
By:
- 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
Publication type:
journal article
Severe growth retardation during carbohydrate restriction in type 1 diabetes mellitus: A case report.
Published in:
Clinical Pediatric Endocrinology, 2024, v. 33, n. 3, p. 181, doi. 10.1297/cpe.2024-0003
By:
- Sayaka Kawashima;
- Chisumi Sogi;
- Miki Kamimura;
- Atsuo Kikuchi;
- Junko Kanno
Publication type:
Article
A case of long-term survival of SADDAN treated with growth hormone for marked short stature.
Published in:
Clinical Pediatric Endocrinology, 2024, v. 33, n. 3, p. 144, doi. 10.1297/cpe.2023-0068
By:
- Junko Kanno;
- Yu Katata;
- Sayaka Kawashima;
- Hirohito Shima;
- Chisumi Sogi;
- Ikumi Umeki;
- Dai Suzuki;
- Hasumi Tomita;
- Miki Kamimura;
- Akiko Saito-Hakoda;
- Ikuma Fujiwara;
- Takushi Hanita;
- Atsuo Kikuchi
Publication type:
Article
Post-Progression Survival Highly Influences Overall Survival in Driver Gene Mutation/Translocation Negative or Unknown Type of Non-Small Cell Lung Cancer.
Published in:
Oncology, 2022, v. 100, n. 2, p. 89, doi. 10.1159/000521141
By:
- Imai, Hisao;
- Onozato, Ryoichi;
- Kaira, Kyoichi;
- Kawashima, Sayaka;
- Masubuchi, Ken;
- Tajima, Kohei;
- Minato, Koichi
Publication type:
Article
Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus.
Published in:
Journal of Bone & Mineral Research, 2022, v. 37, n. 10, p. 1850, doi. 10.1002/jbmr.4652
By:
- Kawashima, Sayaka;
- Yuno, Akiko;
- Sano, Shinichiro;
- Nakamura, Akie;
- Ishiwata, Keisuke;
- Kawasaki, Tomoyuki;
- Hosomichi, Kazuyoshi;
- Nakabayashi, Kazuhiko;
- Akutsu, Hidenori;
- Saitsu, Hirotomo;
- Fukami, Maki;
- Usui, Takeshi;
- Ogata, Tsutomu;
- Kagami, Masayo
Publication type:
Article
A Novel GNAS Duplication Associated With Loss‐of‐Methylation Restricted to Exon A/B Causes Pseudohypoparathyroidism Type Ib (PHP1B).
Published in:
Journal of Bone & Mineral Research, 2021, v. 36, n. 3, p. 546, doi. 10.1002/jbmr.4209
By:
- Reyes, Monica;
- Kagami, Masayo;
- Kawashima, Sayaka;
- Pallotta, Johanna;
- Schnabel, Dirk;
- Fukami, Maki;
- Jüppner, Harald
Publication type:
Article

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