楊麗珠 (Lizhu Yang) - マイポータル

Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4.

Yu Fujinami-Yokokawa, Kwangsic Joo, Xiao Liu, Kazushige Tsunoda, Mineo Kondo, Seong Joon Ahn, Anthony G Robson, Izumi Naka, Jun Ohashi, Hui Li …

Investigative ophthalmology & visual science 65(1) 41-41 2024年1月2日

Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5.

Yu Fujinami-Yokokawa, Lizhu Yang, Kwangsic Joo, Kazushige Tsunoda, Xiao Liu, Mineo Kondo, Seong Joon Ahn, Hui Li, Kyu Hyung Park, Hisateru Tachimori …

Genes 14(10) 2023年9月26日

Visual Field Characteristics in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report No. 3.

Seong Joon Ahn, Lizhu Yang, Kazushige Tsunoda, Mineo Kondo, Yu Fujinami-Yokokawa, Natsuko Nakamura, Takeshi Iwata, Min Seok Kim, Yongseok Mun, Jun Young Park …

Investigative ophthalmology & visual science 63(1) 12-12 2022年1月3日

Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques.

Yu Fujinami-Yokokawa, Hideki Ninomiya, Xiao Liu, Lizhu Yang, Nikolas Pontikos, Kazutoshi Yoshitake, Takeshi Iwata, Yasunori Sato, Takeshi Hashimoto, Kazushige Tsunoda …

The British journal of ophthalmology 105(9) 1272-1279 2021年9月

Long-term follow-up of a Chinese patient with KCNV2-retinopathy.

Hongxuan Lie, Gang Wang, Xiao Liu, Xiaohong Meng, Yanling Long, Jiayun Ren, Lizhu Yang, Yu Fujinami-Yokokawa, Toshihide Kurihara, Kazuo Tsubota …

Ophthalmic genetics 42(2) 144-149 2021年4月

Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2.

Lizhu Yang, Kwangsic Joo, Kazushige Tsunoda, Mineo Kondo, Yu Fujinami-Yokokawa, Gavin Arno, Nikolas Pontikos, Xiao Liu, Natsuko Nakamura, Toshihide Kurihara …

American journal of ophthalmology 221 169-180 2021年1月

Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort.

Zixi Sun, Lizhu Yang, Hui Li, Xuan Zou, Lei Wang, Shijing Wu, Tian Zhu, Xing Wei, Yong Zhong, Ruifang Sui

Experimental eye research 202 108389-108389 2021年1月

Clinical and genetic study on two Chinese families with Wagner vitreoretinopathy.

Huajin Li, Hui Li, Lizhu Yang, Zixi Sun, Shijing Wu, Ruifang Sui

Ophthalmic genetics 41(5) 432-439 2020年10月

Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.

Kaoru Fujinami, Akio Oishi, Lizhu Yang, Gavin Arno, Nikolas Pontikos, Kazutoshi Yoshitake, Yu Fujinami-Yokokawa, Xiao Liu, Takaaki Hayashi, Satoshi Katagiri …

American journal of medical genetics. Part C, Seminars in medical genetics 184(3) 656-674 2020年9月

Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.

Xiao Liu, Xiaohong Meng, Lizhu Yang, Yanling Long, Yu Fujinami-Yokokawa, Jiayun Ren, Toshihide Kurihara, Kazuo Tsubota, Kazushige Tsunoda, Kaoru Fujinami …

American journal of medical genetics. Part C, Seminars in medical genetics 184(3) 694-707 2020年9月

RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.

Kaoru Fujinami, Xiao Liu, Shinji Ueno, Atsushi Mizota, Kei Shinoda, Kazuki Kuniyoshi, Yu Fujinami-Yokokawa, Lizhu Yang, Gavin Arno, Nikolas Pontikos …

American journal of medical genetics. Part C, Seminars in medical genetics 184(3) 675-693 2020年9月

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.

Yu Fujinami-Yokokawa, Kaoru Fujinami, Kazuki Kuniyoshi, Takaaki Hayashi, Shinji Ueno, Atsushi Mizota, Kei Shinoda, Gavin Arno, Nikolas Pontikos, Lizhu Yang …

Scientific reports 10(1) 9531-9531 2020年6月12日

Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder.

Xiao Liu, Kaoru Fujinami, Kazuki Kuniyoshi, Mineo Kondo, Shinji Ueno, Takaaki Hayashi, Kiyofumi Mochizuki, Shuhei Kameya, Lizhu Yang, Yu Fujinami-Yokokawa …

Translational vision science & technology 9(6) 2-2 2020年5月

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.

Lizhu Yang, Kaoru Fujinami, Shinji Ueno, Kazuki Kuniyoshi, Takaaki Hayashi, Mineo Kondo, Atsushi Mizota, Nobuhisa Naoi, Kei Shinoda, Shuhei Kameya …

Scientific reports 10(1) 5497-5497 2020年3月26日

Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.

Kei Mizobuchi, Takaaki Hayashi, Satoshi Katagiri, Kazutoshi Yoshitake, Kaoru Fujinami, Lizhu Yang, Kazuki Kuniyoshi, Kei Shinoda, Shigeki Machida, Mineo Kondo …

Scientific reports 9(1) 16851-16851 2019年11月14日

PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.

Xuan Zou, Qing Fu, Sha Fang, Hui Li, Zhongqi Ge, Lizhu Yang, Mingchu Xu, Zixi Sun, Huajin Li, Yumei Li …

Retina (Philadelphia, Pa.) 39(10) 2040-2052 2019年10月

Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies Report Number 1.

Kaoru Fujinami, Lizhu Yang, Kwangsic Joo, Kazushige Tsunoda, Shuhei Kameya, Gen Hanazono, Yu Fujinami-Yokokawa, Gavin Arno, Mineo Kondo, Natsuko Nakamura …

Ophthalmology 126(10) 1432-1444 2019年10月

Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.

Shuhei Kameya, Kaoru Fujinami, Shinji Ueno, Takaaki Hayashi, Kazuki Kuniyoshi, Ryuichi Ideta, Sachiko Kikuchi, Daiki Kubota, Kazutoshi Yoshitake, Satoshi Katagiri …

Investigative ophthalmology & visual science 60(10) 3432-3446 2019年8月1日

Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques.

Yu Fujinami-Yokokawa, Nikolas Pontikos, Lizhu Yang, Kazushige Tsunoda, Kazutoshi Yoshitake, Takeshi Iwata, Hiroaki Miyata, Kaoru Fujinami, On Behalf Of Japan Eye Genetics Consortium

Journal of ophthalmology 2019 1691064-1691064 2019年

A novel porcine model reproduces human oculocutaneous albinism type II.

Ying Zhang, Qianlong Hong, Chunwei Cao, Lizhu Yang, Yongshun Li, Tang Hai, Hongyong Zhang, Qi Zhou, Ruifang Sui, Jianguo Zhao

Cell discovery 5 48-48 2019年

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