Human Genome Epidemiology Literature Finder
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Records 1 - 24 (of 24 Records) |
| Query Trace: Disease and CHM[original query] |
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| Association of chondromodulin-II Val58Ile polymorphism with radiographic joint destruction in rheumatoid arthritis. The Journal of rheumatology 2005 Sep 32 (9): 1654-61. Graessler Juergen, Verlohren Michael, Graessler Anett, Zeissig Astrid, Kuhlisch Eberhard, Kopprasch Steffi, Schroeder Hans-Egbe |
| Polymorphisms in inflammatory and immune response genes associated with cerebral cavernous malformation type 1 severity. Cerebrovascular diseases (Basel, Switzerland) 2014 38 (6): 433-40. Choquet Hélène, Pawlikowska Ludmila, Nelson Jeffrey, McCulloch Charles E, Akers Amy, Baca Beth, Khan Yasir, Hart Blaine, Morrison Leslie, Kim Helen, |
| Genetic analysis of choroideremia families in the Australian population. Clinical & experimental ophthalmology 2015 Apr . McLaren Terri L, De Roach John N, Montgomery Hannah, Hoffmann Ling, Kap Caitlyn, Lamey Tina |
| A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts. PloS one 2016 11 (6): e0157005. Jiao Xiaodong, Kabir Firoz, Irum Bushra, Khan Arif O, Wang Qiwei, Li David, Khan Asma A, Husnain Tayyab, Akram Javed, Riazuddin Sheikh, Hejtmancik J Fielding, Riazuddin S Am |
| The Efficacy of Traditional Chinese Herbal Medicine in the Treatment of EGFR Mutated Stage IV Pulmonary Adenocarcinoma Patients Who Received First-Line EGFR-TKI Treatment. Integrative cancer therapies 2016 May . Hung Hsiu-Ying, Tseng Yen-Han, Liao Chia-Miao, Chen Sung-Yi, Wu Ta-Peng, Lee Yu-Chin, Chen Yuh-M |
| A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice. PloS one 2016 11 (4): e0151943. Sanchez-Alcudia Rocio, Garcia-Hoyos Maria, Lopez-Martinez Miguel Angel, Sanchez-Bolivar Noelia, Zurita Olga, Gimenez Ascension, Villaverde Cristina, Rodrigues-Jacy da Silva Luciana, Corton Marta, Perez-Carro Raquel, Torriano Simona, Kalatzis Vasiliki, Rivolta Carlo, Avila-Fernandez Almudena, Lorda Isabel, Trujillo-Tiebas Maria J, Garcia-Sandoval Blanca, Lopez-Molina Maria Isabel, Blanco-Kelly Fiona, Riveiro-Alvarez Rosa, Ayuso Carm |
| CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING. Retina (Philadelphia, Pa.) 2016 Oct . Hafler Brian |
| Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1. Free radical biology & medicine 2016 Jan . Choquet Hélène, Trapani Eliana, Goitre Luca, Trabalzini Lorenza, Akers Amy, Fontanella Marco, Hart Blaine L, Morrison Leslie A, Pawlikowska Ludmila, Kim Helen, Retta Saverio Frances |
| Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities. Investigative ophthalmology & visual science 2015 Dec 56 (13): 8158-65. Zhang Alice Yang, Mysore Naveen, Vali Hojatollah, Koenekoop Jamie, Cao Sang Ni, Li Shen, Ren Huanan, Keser Vafa, Lopez-Solache Irma, Siddiqui Sorath Noorani, Khan Ayesha, Mui Jeannie, Sears Kelly, Dixon Jim, Schwartzentruber Jeremy, Majewski Jacek, Braverman Nancy, Koenekoop Robert |
| Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women. Oncotarget 2017 Sep 8 (43): 75264-75271. Yu Yan, Lu Bingjian, Lu Weiguo, Li Shuang, Li Xiuqin, Wang Xinyu, Wan Xiaoyun, Chen Yaxia, Feng Suwen, Jia Yao, Yang Ru, Tang Fangxu, Li Xiong, Zhang Shulan, Wang Xinyan, Wei Heng, Peng Zhilan, Lu Lin, Zhong Huizhen, Zhao Linjun, Huang Zhangqian, Lin Lin, Shen Weihong, Lu Yan, Cao Zhu, Zou Jian, Ma Yuejiang, Chen Xiaojing, Tian Qifang, Lu Shiming, Liu Pengyuan, Ma Ding, Xie Xing, Cheng Xiaodo |
| Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237. Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya |
| Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment. Orphanet journal of rare diseases 2018 12 13 (1): 221. Skorczyk-Werner Anna, Wawrocka Anna, Kochalska Natalia, Krawczynski Maciej Robe |
| Relative frequency of inherited retinal dystrophies in Brazil. Scientific reports 2018 Oct 8 (1): 15939. Motta Fabiana Louise, Martin Renan Paulo, Filippelli-Silva Rafael, Salles Mariana Vallim, Sallum Juliana Maria Ferr |
| Chinese Herbal Medicine Combined With EGFR-TKI in EGFR Mutation-Positive Advanced Pulmonary Adenocarcinoma (CATLA): A Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial. Frontiers in pharmacology 2019 7 10 732. Jiao Lijing, Xu Jianfang, Sun Jianli, Chen Zhiwei, Gong Yabin, Bi Ling, Lu Yan, Yao Jialin, Zhu Weirong, Hou Aihua, Feng Gaohua, Jia Yingjie, Shen Weisheng, Li Yongjian, Zhang Ziwen, Chen Peiqi, Xu Li |
| Spectrum of Disease Severity and Phenotype in Choroideremia Carriers. American journal of ophthalmology 2019 6 207 77-86. Jauregui Ruben, Park Karen Sophia, Tanaka Akemi J, Cho Ahra, Paavo Maarjaliis, Zernant Jana, Francis Jasmine H, Allikmets Rando, Sparrow Janet R, Tsang Stephen |
| CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia. Investigative ophthalmology & visual science 2019 4 60 (5): 1547-1555. Di Iorio Valentina, Esposito Gabriella, De Falco Francesca, Boccia Rosa, Fioretti Tiziana, Colucci Raffaella, De Rosa Giuseppe, Melillo Paolo, Salvatore Francesco, Simonelli Francesca, Testa Frances |
| Association of Messenger RNA Level With Phenotype in Patients With Choroideremia: Potential Implications for Gene Therapy Dose. JAMA ophthalmology 2019 12 138 (2): 128-135. Fry Lewis E, Patrício Maria I, Williams Jonathan, Aylward James W, Hewitt Harriet, Clouston Penny, Xue Kanmin, Barnard Alun R, MacLaren Robert |
| Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families. Scientific reports 2020 9 10 (1): 15883. Hayashi Takaaki, Kameya Shuhei, Mizobuchi Kei, Kubota Daiki, Kikuchi Sachiko, Yoshitake Kazutoshi, Mizota Atsushi, Murakami Akira, Iwata Takeshi, Nakano Tadas |
| Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation. American journal of medical genetics. Part A 2020 Feb . Manole Athanasios K, Forrester Vernon J, Zlotoff Barrett J, Hart Blaine L, Morrison Leslie |
| Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants. Human genome variation 2020 10 7 35. McLaren Terri L, De Roach John N, Thompson Jennifer A, Chen Fred K, Mackey David A, Hoffmann Ling, Urwin Isabella R, Lamey Tina |
| Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort. Genes 2021 5 12 (5): . Kim Yoon-Jeon, Kim You-Na, Yoon Young-Hee, Seo Eul-Ju, Seo Go-Hun, Keum Changwon, Lee Beom-Hee, Lee Joo-Yo |
| Twin pregnancy with complete hydatidiform mole and co-existing fetus: A report of 15 cases with a clinicopathological analysis and DNA genotyping. Pathology, research and practice 2022 9 238 154116. Lu Bingjian, Ma Yu, Shao Ying, Xu Enpi |
| Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa. Journal of Korean medical science 2022 1 37 (3): e5. Kim Jin Ha, Han Jung Woo, Choi Eun Woo, Bang Ji Hong, Shin Hee Jeong, Jang Mi-Ae, Lee Jong-Young, Choi Jeong Nam, Chang Hun Soo, Park Tae Kwa |
| De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases. Investigative ophthalmology & visual science 2023 2 64 (2): 5. Li Wei, He Xiang-Dong, Yang Zheng-Tao, Han Dong-Ming, Sun Yan, Chen Yan-Xian, Han Xiao-Tong, Guo Si-Cheng, Ma Yu-Ting, Jin Xin, Yang Huan-Ming, Gao Ya, Wang Zhuo-Shi, Li Jian-Kang, He W |
- Page last reviewed:Feb 1, 2024
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