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Multicenter experience with large panel next-generation sequencing in patients with advanced solid cancers in Japan.
Published in:
Japanese Journal of Clinical Oncology, 2019, v. 49, n. 2, p. 174, doi. 10.1093/jjco/hyy173
By:
- Kato, Shingo;
- Hayashi, Takuo;
- Suehara, Yoshiyuki;
- Hamanoue, Haruka;
- Yamanaka, Shoji;
- Ichikawa, Yasushi;
- Higurashi, Takuma;
- Ohashi, Kenichi;
- Yamaguchi, Shigeo;
- Nozaki, Yumi;
- Terao, Yasuhisa;
- Saito, Tsuyoshi
Publication type:
Article
Changes in the number of babies born with Down syndrome in Japan.
Published in:
Journal of Obstetrics & Gynaecology Research, 2022, v. 48, n. 9, p. 2385, doi. 10.1111/jog.15342
By:
- Sugo, Yoshinobu;
- Kurasawa, Kentaro;
- Saigusa, Yusuke;
- Hamanoue, Haruka;
- Hirahara, Fumiki;
- Miyagi, Etsuko
Publication type:
Article
Evaluation of the clinical performance of noninvasive prenatal testing at a Japanese laboratory.
Published in:
Journal of Obstetrics & Gynaecology Research, 2021, v. 47, n. 10, p. 3437, doi. 10.1111/jog.14954
By:
- Sasaki, Yuna;
- Yamada, Takahiro;
- Tanaka, Shiro;
- Sekizawa, Akihiko;
- Hirose, Tatsuko;
- Suzumori, Nobuhiro;
- Kaji, Takashi;
- Kawaguchi, Satoshi;
- Hasuo, Yasuyuki;
- Nishizawa, Haruki;
- Matsubara, Keiichi;
- Hamanoue, Haruka;
- Fukushima, Akimune;
- Endo, Masayuki;
- Yamaguchi, Masayuki;
- Kamei, Yoshimasa;
- Sawai, Hideaki;
- Miura, Kiyonori;
- Ogawa, Masaki;
- Tairaku, Shinya
Publication type:
Article
Current status of non-invasive prenatal testing in Japan.
Published in:
2017
By:
- Samura, Osamu;
- Sekizawa, Akihiko;
- Suzumori, Nobuhiro;
- Sasaki, Aiko;
- Wada, Seiji;
- Hamanoue, Haruka;
- Hirahara, Fumiki;
- Sawai, Hideaki;
- Nakamura, Hiroaki;
- Yamada, Takahiro;
- Miura, Kiyonori;
- Masuzaki, Hideaki;
- Nakayama, Setsuko;
- Okai, Takashi;
- Kamei, Yoshimasa;
- Namba, Akira;
- Murotsuki, Jun;
- Tanemoto, Tomohiro;
- Fukushima, Akimune;
- Haino, Kazufumi
Publication type:
Other
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.
Published in:
Journal of Human Genetics, 2011, v. 56, n. 2, p. 156, doi. 10.1038/jhg.2010.155
By:
- Nishimura-Tadaki, Akira;
- Wada, Takahito;
- Bano, Gul;
- Gough, Karen;
- Warner, Janet;
- Kosho, Tomoki;
- Ando, Noriko;
- Hamanoue, Haruka;
- Sakakibara, Hideya;
- Nishimura, Gen;
- Tsurusaki, Yoshinori;
- Doi, Hiroshi;
- Miyake, Noriko;
- Wakui, Keiko;
- Saitsu, Hirotomo;
- Fukushima, Yoshimitsu;
- Hirahara, Fumiki;
- Matsumoto, Naomichi
Publication type:
Article
Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection.
Published in:
Journal of Human Genetics, 2006, v. 51, n. 5, p. 477, doi. 10.1007/s10038-006-0388-3
By:
- Hamanoue, Haruka;
- Umezu, Nobuko;
- Okuda, Mika;
- Harada, Naoki;
- Ohata, Takako;
- Sakai, Haruya;
- Mizuguchi, Takeshi;
- Ishikawa, Hiroshi;
- Takahashi, Tsuneo;
- Miura, Kiyonori;
- Hirahara, Fumiki;
- Matsumoto, Naomichi
Publication type:
Article
A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.
Published in:
Journal of Human Genetics, 2006, v. 51, n. 5, p. 461, doi. 10.1007/s10038-006-0385-6
By:
- Ohata, Takako;
- Yoshida, Kunihiro;
- Sakai, Haruya;
- Hamanoue, Haruka;
- Mizuguchi, Takeshi;
- Shimizu, Yusaku;
- Okano, Tomomi;
- Takada, Fumio;
- Ishikawa, Kinya;
- Mizusawa, Hidehiro;
- Yoshiura, Ko-ichiro;
- Fukushima, Yoshimitsu;
- Ikeda, Shu-ichi;
- Matsumoto, Naomichi
Publication type:
Article
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1543, doi. 10.1002/ajmg.a.35983
By:
- Kondo, Yukiko;
- Koshimizu, Eriko;
- Megarbane, Andre;
- Hamanoue, Haruka;
- Okada, Ippei;
- Nishiyama, Kiyomi;
- Kodera, Hirofumi;
- Miyatake, Satoko;
- Tsurusaki, Yoshinori;
- Nakashima, Mitsuko;
- Doi, Hiroshi;
- Miyake, Noriko;
- Saitsu, Hirotomo;
- Matsumoto, Naomichi
Publication type:
Article
Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.
Published in:
Muscle & Nerve, 2022, v. 66, n. 6, p. 757, doi. 10.1002/mus.27725
By:
- Shibano, Maki;
- Kubota, Tomoya;
- Kokubun, Norito;
- Miyaji, Yosuke;
- Kuriki, Hiroko;
- Ito, Yuzuru;
- Hamanoue, Haruka;
- Takahashi, Masanori P.
Publication type:
Article
Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing.
Published in:
2020
By:
- Yotsumoto, Junko;
- Sekizawa, Akihiko;
- Inoue, Satomi;
- Suzumori, Nobuhiro;
- Samura, Osamu;
- Yamada, Takahiro;
- Miura, Kiyonori;
- Masuzaki, Hideaki;
- Sawai, Hideaki;
- Murotsuki, Jun;
- Hamanoue, Haruka;
- Kamei, Yoshimasa;
- Endo, Toshiaki;
- Fukushima, Akimune;
- Katagiri, Yukiko;
- Takeshita, Naoki;
- Ogawa, Masaki;
- Nishizawa, Haruki;
- Okamoto, Yoko;
- Tairaku, Shinya
Publication type:
journal article
An infertile patient with Y chromosome b1/b3 deletion presenting with congenital bilateral absence of the vas deferens with normal spermatogenesis.
Published in:
Clinical & Experimental Reproductive Medicine, 2018, v. 45, n. 1, p. 48, doi. 10.5653/cerm.2018.45.1.48
By:
- Shinnosuke Kuroda;
- Kimitsugu Usui;
- Kohei Mori;
- Kengo Yasuda;
- Takuo Asai;
- Hiroyuki Sanjo;
- Hiroyuki Yakanaka;
- Teppei Takeshima;
- Takashi Kawahara;
- Haruka Hamanoue;
- Yoshitake Kato;
- Yasuhide Miyoshi;
- Hiroji Uemura;
- Akira Iwasaki;
- Yasushi Yumura
Publication type:
Article
Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects.
Published in:
Cardiology in the Young, 2009, v. 19, n. 5, p. 482, doi. 10.1017/S1047951109990813
By:
- Hamanoue, Haruka;
- Rahayuningsih, Sri Endah;
- Hirahara, Yuya;
- Itoh, Junko;
- Yokoyama, Utako;
- Mizuguchi, Takeshi;
- Saitsu, Hirotomo;
- Miyake, Noriko;
- Hirahara, Fumiki;
- Matsumoto, Naomichi
Publication type:
Article
Preconceptional folic acid supplementation in Japan.
Published in:
Congenital Anomalies, 2017, v. 57, n. 5, p. 171, doi. 10.1111/cga.12238
By:
- Hirahara, Fumiki;
- Hamanoue, Haruka;
- Kurasawa, Kentaro
Publication type:
Article
Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.
Published in:
Annals of Neurology, 2010, v. 68, n. 2, p. 250, doi. 10.1002/ana.22022
By:
- Osaka, Hitoshi;
- Hamanoue, Haruka;
- Yamamoto, Ryoko;
- Nezu, Atsuo;
- Sasaki, Megumi;
- Saitsu, Hirotomo;
- Kurosawa, Kenji;
- Shimbo, Hiroko;
- Matsumoto, Naomichi;
- Inoue, Ken
Publication type:
Article
A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant.
Published in:
International Journal of Hematology, 2024, v. 119, n. 5, p. 603, doi. 10.1007/s12185-024-03751-x
By:
- Ohashi, Takuma;
- Kunimoto, Hiroyoshi;
- Nukui, Jun;
- Teshigawara, Haruka;
- Koyama, Satoshi;
- Miyazaki, Takuya;
- Hagihara, Maki;
- Matsumoto, Kenji;
- Koshimizu, Eriko;
- Tsuchida, Naomi;
- Hamanoue, Haruka;
- Miyatake, Satoko;
- Yachie, Akihiro;
- Matsumoto, Naomichi;
- Nakajima, Hideaki
Publication type:
Article
Clinical features of Birt-Hogg-Dubé syndrome: A Japanese case with pulmonary cysts, fibrofolliculomas and renal cell carcinoma.
Published in:
Journal of Dermatology, 2017, v. 44, n. 12, p. 1409, doi. 10.1111/1346-8138.13711
By:
- Tanegashima, Tomohiko;
- Yamaguchi, Yukie;
- Hamanoue, Haruka;
- Yao, Masahiro;
- Furuya, Mitsuko;
- Aihara, Michiko
Publication type:
Article
Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT.
Published in:
2019
By:
- Suzumori, Nobuhiro;
- Sekizawa, Akihiko;
- Takeda, Eri;
- Samura, Osamu;
- Sasaki, Aiko;
- Akaishi, Rina;
- Wada, Seiji;
- Hamanoue, Haruka;
- Hirahara, Fumiki;
- Kuriki, Hiroko;
- Sawai, Hideaki;
- Nakamura, Hiroaki;
- Yamada, Takahiro;
- Miura, Kiyonori;
- Masuzaki, Hideaki;
- Yamashita, Takahiro;
- Kamei, Yoshimasa;
- Namba, Akira;
- Murotsuki, Jun;
- Tanemoto, Tomohiro
Publication type:
journal article
Factors affecting parental decisions to terminate pregnancy in the presence of chromosome abnormalities: a Japanese multicenter study.
Published in:
2016
By:
- Nishiyama, Miyuki;
- Sekizawa, Akihiko;
- Ogawa, Kohei;
- Sawai, Hideaki;
- Nakamura, Hiroaki;
- Samura, Osamu;
- Suzumori, Nobuhiro;
- Nakayama, Setsuko;
- Yamada, Takahiro;
- Ogawa, Masaki;
- Katagiri, Yukiko;
- Murotsuki, Jun;
- Okamoto, Yoko;
- Namba, Akira;
- Hamanoue, Haruka;
- Ogawa, Masanobu;
- Miura, Kiyonori;
- Izumi, Shunichiro;
- Kamei, Yoshimasa;
- Sago, Haruhiko
Publication type:
journal article

Found: 18