浜之上はるか (Haruka Hamanoue) - マイポータル

基本情報

所属: 横浜市立大学附属病院遺伝子診療部講師

学位: 医学博士（甲号）(横浜市立大学大学院)

J-GLOBAL ID: 201401099574236473
researchmap会員ID: 7000007870

外部リンク: http://www.yokohama-cu.ac.jp/fukuhp/section/central_section/genetic/index.html

研究キーワード

研究分野

ライフサイエンス / 産婦人科学 /

MISC

Nationwide demonstration project of next-generation sequencing of cell-free DNA in maternal plasma in Japan: 1-year experience

Haruhiko Sago, Akihiko Sekizawa

PRENATAL DIAGNOSIS 35(4) 331-336 2015年4月
A case of azoospermia patient with a chromosomal abnormality considered a ring Y chromosome

Shinnosuke Kuroda, Yasushi Yumura, Haruka Hamanoue, Kengo Yasuda, Hiroyuki Yamanaka, Hiroyuki Sanjo, Teppei Takeshima, Masataka Kobayashi, Yoshitake Kato, Akira Iwasaki …

Acta Urologica Japonica 60(11) 583-586 2014年11月1日
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies

Yukiko Kondo, Eriko Koshimizu, Andre Megarbane, Haruka Hamanoue, Ippei Okada, Kiyomi Nishiyama, Hirofumi Kodera, Satoko Miyatake, Yoshinori Tsurusaki, Mitsuko Nakashima …

AMERICAN JOURNAL OF MEDICAL GENETICS PART A 161A(7) 1543-1546 2013年7月
Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing

Yoshinori Tsurusaki, Hitoshi Osaka, Haruka Hamanoue, Hiroko Shimbo, Megumi Tsuji, Hiroshi Doi, Hirotomo Saitsu, Naomichi Matsumoto, Noriko Miyake

JOURNAL OF MEDICAL GENETICS 48(9) 606-609 2011年9月
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure

Akira Nishimura-Tadaki, Takahito Wada, Gul Bano, Karen Gough, Janet Warner, Tomoki Kosho, Noriko Ando, Haruka Hamanoue, Hideya Sakakibara, Gen Nishimura …

JOURNAL OF HUMAN GENETICS 56(2) 156-160 2011年2月
SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

Ippei Okada, Haruka Hamanoue, Koji Terada, Takaya Tohma, Andre Megarbane, Eliane Chouery, Joelle Abou-Ghoch, Nadine Jalkh, Ozgur Cogulu, Ferda Ozkinay …

AMERICAN JOURNAL OF HUMAN GENETICS 88(1) 30-41 2011年1月
Disrupted SOX10 Regulation of GJC2 Transcription Causes Pelizaeus-Merzbacher-Like Disease

Hitoshi Osaka, Haruka Hamanoue, Ryoko Yamamoto, Atsuo Nezu, Megumi Sasaki, Hirotomo Saitsu, Kenji Kurosawa, Hiroko Shimbo, Naomichi Matsumoto, Ken Inoue

ANNALS OF NEUROLOGY 68(2) 250-254 2010年8月
Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects

Haruka Hamanoue, Sri Endah Rahayuningsih, Yuya Hirahara, Junko Itoh, Utako Yokoyama, Takeshi Mizuguchi, Hirotomo Saitsu, Noriko Miyake, Fumiki Hirahara, Naomichi Matsumoto

CARDIOLOGY IN THE YOUNG 19(5) 482-485 2009年10月
A Locus for Ophthalmo-Acromelic Syndrome Mapped to 10p11.23

Haruka Hamanoue, Andre Megarbane, Takaya Tohma, Akira Nishimura, Takeshi Mizuguchi, Hirotomo Saitsu, Haruya Sakai, Shoko Miura, Tatsushi Toda, Noriko Miyake …

AMERICAN JOURNAL OF MEDICAL GENETICS PART A 149A(3) 336-342 2009年3月
A -16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano

Journal of Human Genetics 51(5) 461-466 2006年
Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection

H Hamanoue, N Umezu, M Okuda, N Harada, T Ohata, H Sakai, T Mizuguchi, H Ishikawa, T Takahashi, K Miura …

JOURNAL OF HUMAN GENETICS 51(5) 477-479 2006年