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SHOX far‐downstream copy‐number variations involving cis‐regulatory nucleotide variants in two sisters with Leri‐Weill dyschondrosteosis.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1778, doi. 10.1002/ajmg.a.61275
By:
- Ogushi, Kenichiro;
- Muroya, Koji;
- Shima, Hirohito;
- Jinno, Tomoko;
- Miyado, Mami;
- Fukami, Maki
Publication type:
Article
A novel <italic>SAMD9</italic> mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 415, doi. 10.1002/ajmg.a.38557
By:
- Jeffries, Lauren;
- Shima, Hirohito;
- Ji, Weizhen;
- Panisello‐Manterola, David;
- McGrath, James;
- Bird, Lynne M.;
- Konstantino, Monica;
- Narumi, Satoshi;
- Lakhani, Saquib
Publication type:
Article
Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7.
Published in:
British Journal of Haematology, 2020, v. 191, n. 5, p. 835, doi. 10.1111/bjh.17006
By:
- Yoshida, Masanori;
- Tanase‐Nakao, Kanako;
- Shima, Hirohito;
- Shirai, Ryota;
- Yoshida, Kaoru;
- Osumi, Tomoo;
- Deguchi, Takao;
- Mori, Makiko;
- Arakawa, Yuki;
- Takagi, Masatoshi;
- Miyamura, Takako;
- Sakaguchi, Kimiyoshi;
- Toyoda, Hidemi;
- Ishida, Hisashi;
- Sakata, Naoki;
- Imamura, Toshihiko;
- Kawahara, Yuta;
- Morimoto, Akira;
- Koike, Takashi;
- Yagasaki, Hiroshi
Publication type:
Article
SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome.
Published in:
Journal of the Endocrine Society, 2021, v. 5, n. 7, p. 1, doi. 10.1210/jendso/bvab056
By:
- Shima, Hirohito;
- Tokuhiro, Etsuro;
- Okamoto, Shingo;
- Nagamori, Mariko;
- Ogata, Tsutomu;
- Narumi, Satoshi;
- Nakamura, Akie;
- Izumi, Yoko;
- Jinno, Tomoko;
- Suzuki, Erina;
- Fukami, Maki
Publication type:
Article
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.
Published in:
Sexual Development, 2016, v. 10, n. 4, p. 205, doi. 10.1159/000448726
By:
- Shima, Hirohito;
- Yatsuga, Shuichi;
- Nakamura, akie;
- Sano, Shinichiro;
- Sasaki, Takako;
- Katsumata, Noriyuki;
- Suzuki, Erina;
- Hata, Kenichiro;
- Nakabayashi, Kazuhiko;
- Momozawa, Yukihide;
- Kubo, Michiaki;
- Okamura, Kohji;
- Kure, Shigeo;
- Matsubara, Yoichi;
- Ogata, Tsutomu;
- Narumi, Satoshi;
- Fukami, Maki
Publication type:
Article
A case report and literature review of monoallelic mutation of GHR.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 4, p. 415, doi. 10.1515/jpem-2018-0365
By:
- Mitani, Marie;
- Shima, Hirohito;
- Sato, Takeshi;
- Inoguchi, Tomohiro;
- Kamimaki, Tsutomu;
- Fukami, Maki;
- Hasegawa, Tomonobu
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
Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome.
Published in:
2021
By:
- Mitsui-Sekinaka, Kanako;
- Narumi, Satoshi;
- Sekinaka, Yujin;
- Uematsu, Kenji;
- Yoshida, Yusuke;
- Amano, Naoko;
- Shima, Hirohito;
- Hasegawa, Tomonobu;
- Nonoyama, Shigeaki
Publication type:
Letter
(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
Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association.
Published in:
2018
By:
- Wilson, David B.;
- Bessler, Monica;
- Ferkol, Thomas W.;
- Shenoy, Shalini;
- Amano, Naoko;
- Ishii, Tomohiro;
- Shima, Hirohito;
- Narumi, Satoshi
Publication type:
Letter
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
SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.
Published in:
Endocrine Journal, 2017, v. 64, n. 8, p. 813, doi. 10.1507/endocrj.ej17-0078
By:
- Hirohito Shima;
- Akira Ishii;
- Yasunori Wada;
- Junya Kizawa;
- Tadashi Yokoi;
- Noriyuki Azuma;
- Yoichi Matsubara;
- Erina Suzuki;
- Akie Nakamura;
- Satoshi Narumi;
- Maki Fukami
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
MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report.
Published in:
Clinical Pediatric Endocrinology, 2019, v. 28, n. 4, p. 147, doi. 10.1297/cpe.28.147
By:
- Kanako Yoshizaki;
- Rumi Hachiya;
- Yutaro Tomobe;
- Uiko Kaku;
- Kazuhisa Akiba;
- Hirohito Shima;
- Satoshi Narumi;
- Yukihiro Hasegawa
Publication type:
Article
MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.
Published in:
PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0206184
By:
- 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
Publication type:
Article
Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development.
Published in:
Cytogenetic & Genome Research, 2019, v. 158, n. 3, p. 115, doi. 10.1159/000501378
By:
- Uehara, Erika;
- Hattori, atsushi;
- Shima, Hirohito;
- Ishiguro, akira;
- abe, Yu;
- Ogata, Tsutomu;
- Ogawa, Eishin;
- Fukami, Maki
Publication type:
Article
DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations.
Published in:
Cytogenetic & Genome Research, 2019, v. 158, n. 2, p. 56, doi. 10.1159/000500468
By:
- Kenichiro Ogushi;
- Atsushi Hattori;
- Erina Suzuki;
- Hirohito Shima;
- Masako Izawa;
- Hideaki Yagasaki;
- Reiko Horikawa;
- Kimiaki Uetake;
- Akihiro Umezawa;
- Tomohiro Ishii;
- Koji Muroya;
- Noriyuki Namba;
- Toshiaki Tanaka;
- Yasuhiro Hirano;
- Hitoshi Yamamoto;
- Shun Soneda;
- Keiko Matsubara;
- Masayo Kagami;
- Mami Miyado;
- Maki Fukami
Publication type:
Article
Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome.
Published in:
Cytogenetic & Genome Research, 2017, v. 151, n. 1, p. 1, doi. 10.1159/000458469
By:
- Nagai, Koki;
- Shima, Hirohito;
- Kamimura, Miki;
- Kanno, Junko;
- Suzuki, Erina;
- Ishiguro, akira;
- Narumi, Satoshi;
- Kure, Shigeo;
- Fujiwara, Ikuma;
- Fukami, Maki
Publication type:
Article
Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic Alterations.
Published in:
2017
By:
- Suzuki, Erina;
- Shima, Hirohito;
- Toki, Machiko;
- Hanew, Kunihiko;
- Matsubara, Keiko;
- Kurahashi, Hiroki;
- Narumi, Satoshi;
- Ogata, Tsutomu;
- Kamimaki, Tsutomu;
- Fukami, Maki
Publication type:
Case Study

Found: 19