Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 63 Records) |
| Query Trace: Cone-rod Dystrophy 1[original query] |
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| The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identified. Acta ophthalmologica 2019 May . Avela Kristiina, Salonen-Kajander Riitta, Laitinen Arja, Ramsden Simon, Barton Stephanie, Rudanko Sirkka-Lii |
| A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants. Genetics in medicine : official journal of the American College of Medical Genetics 2019 3 21 (10): 2336-2344. Wolock Charles J, Stong Nicholas, Ma Chu Jian, Nagasaki Takayuki, Lee Winston, Tsang Stephen H, Kamalakaran Sitharthan, Goldstein David B, Allikmets Ran |
| Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans. Molecular vision 2019 12 25 679-690. Joo Kwangsic, Seong Moon-Woo, Park Kyu Hyung, Park Sung Sup, Woo Se Jo |
| Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland. Genes 2019 11 10 (12): . Tracewska Anna M, Kocy?a-Karczmarewicz Beata, Rafalska Agnieszka, Murawska Joanna, Jakubaszko-Jablonska Joanna, Rydzanicz Ma?gorzata, Stawi?ski Piotr, Ciara El?bieta, Khan Muhammad Imran, Henkes Arjen, Hoischen Alexander, Gilissen Christian, van de Vorst Maartje, Cremers Frans P M, P?oski Rafa?, Chrzanowska Krystyna |
| Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy. Genes 2019 11 10 (12): . Fakin Ana, Šuštar Maja, Brecelj Jelka, Bonnet Crystel, Petit Christine, Zupan Andrej, Glava? Damjan, Jarc-Vidmar Martina, Battelino Saba, Hawlina Mar |
| Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing. Molecular vision 2020 9 26 588-602. Sun Wenmin, Li Shiqiang, Xiao Xueshan, Wang Panfeng, Zhang Qingjio |
| 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. American journal of medical genetics. Part C, Seminars in medical genetics 2020 8 184 (3): 656-674. Fujinami Kaoru, Oishi Akio, Yang Lizhu, Arno Gavin, Pontikos Nikolas, Yoshitake Kazutoshi, Fujinami-Yokokawa Yu, Liu Xiao, Hayashi Takaaki, Katagiri Satoshi, Mizobuchi Kei, Mizota Atsushi, Shinoda Kei, Nakamura Natsuko, Kurihara Toshihide, Tsubota Kazuo, Miyake Yozo, Iwata Takeshi, Tsujikawa Akitaka, Tsunoda Kazushige, |
| Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants. American journal of ophthalmology 2020 7 219 195-204. Del Pozo-Valero Marta, Riveiro-Alvarez Rosa, Blanco-Kelly Fiona, Aguirre-Lamban Jana, Martin-Merida Inmaculada, Iancu Ionut-Florin, Swafiri Saoud, Lorda-Sanchez Isabel, Rodriguez-Pinilla Elvira, Trujillo-Tiebas Maria José, Jimenez-Rolando Belen, Carreño Ester, Mahillo-Fernandez Ignacio, Rivolta Carlo, Corton Marta, Avila-Fernandez Almudena, Garcia-Sandoval Blanca, Ayuso Carm |
| Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association. Scientific reports 2020 6 10 (1): 9531. Fujinami-Yokokawa Yu, Fujinami Kaoru, Kuniyoshi Kazuki, Hayashi Takaaki, Ueno Shinji, Mizota Atsushi, Shinoda Kei, Arno Gavin, Pontikos Nikolas, Yang Lizhu, Liu Xiao, Sakuramoto Hiroyuki, Katagiri Satoshi, Mizobuchi Kei, Kominami Taro, Terasaki Hiroko, Nakamura Natsuko, Kameya Shuhei, Yoshitake Kazutoshi, Miyake Yozo, Kurihara Toshihide, Tsubota Kazuo, Miyata Hiroaki, Iwata Takeshi, Tsunoda Kazushige, |
| Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency. Scientific reports 2020 3 10 (1): 5497. Yang Lizhu, Fujinami Kaoru, Ueno Shinji, Kuniyoshi Kazuki, Hayashi Takaaki, Kondo Mineo, Mizota Atsushi, Naoi Nobuhisa, Shinoda Kei, Kameya Shuhei, Fujinami-Yokokawa Yu, Liu Xiao, Arno Gavin, Pontikos Nikolas, Kominami Taro, Terasaki Hiroko, Sakuramoto Hiroyuki, Katagiri Satoshi, Mizobuchi Kei, Nakamura Natsuko, Mawatari Go, Kurihara Toshihide, Tsubota Kazuo, Miyake Yozo, Yoshitake Kazutoshi, Iwata Takeshi, Tsunoda Kazushige, |
| Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort. American journal of medical genetics. Part A 2020 2 182 (3): 493-497. Prasov Lev, Ullah Ehsan, Turriff Amy E, Warner Blake M, Conley Julie, Mark Paul R, Hufnagel Robert B, Huryn Laryssa |
| Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort. Experimental eye research 2020 12 202 108389. Sun Zixi, Yang Lizhu, Li Hui, Zou Xuan, Wang Lei, Wu Shijing, Zhu Tian, Wei Xing, Zhong Yong, Sui Ruifa |
| PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults. Investigative ophthalmology & visual science 2020 10 61 (12): 1. Daich Varela Malena, Ullah Ehsan, Yousaf Sairah, Brooks Brian P, Hufnagel Robert B, Huryn Laryssa |
| Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN. Journal of clinical medicine 2021 6 10 (11): . Mizobuchi Kei, Hayashi Takaaki, Oishi Noriko, Kubota Daiki, Kameya Shuhei, Higasa Koichiro, Futami Takuma, Kondo Hiroyuki, Hosono Katsuhiro, Kurata Kentaro, Hotta Yoshihiro, Yoshitake Kazutoshi, Iwata Takeshi, Matsuura Tomokazu, Nakano Tadas |
| Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration. BMC medical genomics 2021 3 14 (1): 74. Ma Dae Joong, Lee Hyun-Seob, Kim Kwangsoo, Choi Seongmin, Jang Insoon, Cho Seo-Ho, Yoon Chang Ki, Lee Eun Kyoung, Yu Hyeong G |
| Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa. Frontiers in cell and developmental biology 2021 2 8 629994. Xiao Ting, Xie Yue, Zhang Xin, Xu Ke, Zhang Xiaohui, Jin Zi-Bing, Li Ya |
| Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan. Genes 2021 11 12 (11): . Oishi Akio, Fujinami Kaoru, Mawatari Go, Naoi Nobuhisa, Ikeda Yasuhiro, Ueno Shinji, Kuniyoshi Kazuki, Hayashi Takaaki, Kondo Hiroyuki, Mizota Atsushi, Shinoda Kei, Kusuhara Sentaro, Nakamura Makoto, Iwata Takeshi, Tsujikawa Akitaka, Tsunoda Kazushi |
| Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy. Investigative ophthalmology & visual science 2022 8 63 (9): 24. Wang Junwen, Wang Yingwei, Li Shiqiang, Xiao Xueshan, Yi Zhen, Jiang Yi, Li Xueqing, Jia Xiaoyun, Wang Panfeng, Jin Chenjin, Sun Wenmin, Zhang Qingjio |
| Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene. American journal of ophthalmology 2022 12 248 96-106. Zhu Tian, Shen Yue, Sun Zixi, Han Xiaoxu, Wei Xing, Li Wuyi, Lu Chao, Cheng Tingting, Zou Xuan, Li Hui, Cao Zongfu, Gao Huafang, Ma Xu, Luo Minna, Sui Ruifa |
| Comprehensive genotyping and phenotyping analysis of GUCY2D-associated rod- and cone-dominated dystrophies. American journal of ophthalmology 2023 6 . Cristina Rodilla, Inmaculada Martín-Merida, Fiona Blanco-Kelly, María José Trujillo-Tiebas, Almudena Avila-Fernandez, Rosa Riveiro-Alvarez, Marta Del Pozo-Valero, Irene Perea-Romero, Saoud T Swafiri, Olga Zurita, Cristina Villaverde, Miguel A López, Raquel Romero, Ionut Florin Iancu, Gonzalo Núñez-Moreno, Belén Jiménez-Rolando, María Pilar Martin-Gutierrez, Ester Carreño, Pablo Minguez, Blanca García-Sandoval, Carmen Ayuso, Marta Cort |
| Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans. Genes 2023 5 14 (5): . Dong Geun Kim, Kwangsic Joo, Jinu Han, Mihyun Choi, Seong-Woo Kim, Kyu Hyung Park, Sang Jun Park, Christopher Seungkyu Lee, Suk Ho Byeon, Se Joon W |
| Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina. NPJ genomic medicine 2023 5 8 (1): 8. Patricio G Schlottmann, José D Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M Martin, Gerardo Juan Ormaechea, M Eugenia Inga, Aníbal A Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J Nuova, Ivana B Canonero, Omar A Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Vare |
| Pentosan polysulfate sodium (Elmiron) maculopathy: a genetic perspective. Retina (Philadelphia, Pa.) 2023 3 . Kalaw Fritz Gerald P, Ignacio John Carlos I, Wu Chris Y, Ferreyra Henry, Nudleman Eric, Baxter Sally L, Freeman William R, Borooah Shyaman |
| Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy. International journal of molecular sciences 2023 2 24 (4): . Hadalin Vlasta, Buscarino Maša, Sajovic Jana, Megli? Andrej, Jarc-Vidmar Martina, Hawlina Marko, Volk Marija, Fakin A |
| HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis. Retina (Philadelphia, Pa.) 2023 12 44 (1): 117-126. Li Huang, Yanting Lai, Limei Sun, Songshan Li, Xiaoyan Di |
| Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2023 11 . Richul Oh, Se Joon Woo, Kwangsic J |
| A Novel CEP78 Variant Presenting as Cone Dystrophy and Hearing Loss. Ophthalmic surgery, lasers & imaging retina 2024 8 1-5. Promie R Faruque, Baichun Hou, Jin Kyun Oh, Stephen H Tsa |
| The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia. Genes 2024 6 15 (6): . Doaa Milibari, Sawsan R Nowilaty, Rola Ba-Abb |
| Clinical and Genetic Findings in a Cohort of Patients with PRPF31-associated Retinal Dystrophy. American journal of ophthalmology 2024 6 . Jan-Philipp Bodenbender, Leon Bethge, Katarina Stingl, Pascale Mazzola, Tobias Haack, Saskia Biskup, Bernd Wissinger, Nicole Weisschuh, Susanne Kohl, Laura Kühlewe |
| Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C?>?T (p.Arg1933*) variant in the Japanese population. Scientific reports 2024 10 14 (1): 25669. Keigo Natsume, Taro Kominami, Kensuke Goto, Yoshito Koyanagi, Taiga Inooka, Junya Ota, Kenichi Kawano, Kazuhisa Yamada, Daishi Okuda, Kenya Yuki, Koji M Nishiguchi, Hiroaki Ushi |
- Page last reviewed:Feb 1, 2024
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