Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 49 Records) |
| Query Trace: Disease and CFI[original query] |
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| The Role of Alzheimer's and Cerebrovascular Pathology in Mediating the Effects of Age, Race, and Apolipoprotein E Genotype on Dementia Severity in Pathologically-Confirmed Alzheimer's Disease. Journal of Alzheimer's disease : JAD 2015 Sep . Gavett Brandon E, John Samantha E, Gurnani Ashita S, Bussell Cara A, Saurman Jessica |
| Genotype-Phenotype Association Study Reveals CFI-Rs13104777 to be a Protective Genetic Marker Against Acute Anterior Uveitis. Ocular immunology and inflammation 2016 Jul 1-6. Huang Xiu-Feng, Lin Dan, Lin Keng-Hung, Lee Shi-Huang, Xia Xiaoru, Yang Yi-Mai, Zhu Xue-Fei, Wang Yu-Lin, Dai Ma-Li, Wang Qing-Feng, Jin Zi-Bing, Wang Yuq |
| Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration. JAMA ophthalmology 2016 Jan 1-8. Saksens Nicole T M, Geerlings Maartje J, Bakker Bjorn, Schick Tina, Daha Mohamed R, Fauser Sascha, Boon Camiel J F, de Jong Eiko K, Hoyng Carel B, den Hollander Anneke |
| Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2017 7 30 (12): 1739-1747. Gaut Joseph P, Jain Sanjay, Pfeifer John D, Vigh-Conrad Katinka A, Corliss Meagan, Sharma Mukesh K, Heusel Jonathan W, Cottrell Catherine |
| Low-frequency coding variants in CETP and CFB are associated with susceptibility of exudative age-related macular degeneration in the Japanese population. Human molecular genetics 2016 Nov 25 (22): 5027-5034. Momozawa Yukihide, Akiyama Masato, Kamatani Yoichiro, Arakawa Satoshi, Yasuda Miho, Yoshida Shigeo, Oshima Yuji, Mori Ryusaburo, Tanaka Koji, Mori Keisuke, Inoue Satoshi, Terasaki Hiroko, Yasuma Tetsuhiro, Honda Shigeru, Miki Akiko, Inoue Maiko, Fujisawa Kimihiko, Takahashi Kanji, Yasukawa Tsutomu, Yanagi Yasuo, Kadonosono Kazuaki, Sonoda Koh-Hei, Ishibashi Tatsuro, Takahashi Atsushi, Kubo Michia |
| Natural History of Drusenoid Pigment Epithelial Detachment Associated with Age-Related Macular Degeneration: Age-Related Eye Disease Study 2 Report No. 17. Ophthalmology 2018 Aug . Yu Jeannette J, Agrón Elvira, Clemons Traci E, Domalpally Amitha, van Asten Freekje, Keenan Tiarnan D, Cukras Catherine, Chew Emily Y, |
| Association of polymorphisms of complement factor I rs141853578 (G119R) with age-related macular degeneration in Iranian population. International ophthalmology 2018 Feb . Bonyadi Mortaza, Norouzi Neda, Babaei Esmaeil, Jabbarpoor Bonyadi Mohammad Hossein, Javadzadeh Alireza, Yaseri Mehdi, Soheilian Maso |
| Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome. Journal of the American Society of Nephrology : JASN 2018 11 29 (12): 2809-2819. Bu Fengxiao, Zhang Yuzhou, Wang Kai, Borsa Nicolo Ghiringhelli, Jones Michael B, Taylor Amanda O, Takanami Erika, Meyer Nicole C, Frees Kathy, Thomas Christie P, Nester Carla, Smith Richard J |
| Enabling genome-wide association testing with multiple diseases and no healthy controls. Gene 2018 10 684 118-123. Tom Jennifer, Chang Diana, Wuster Art, Mukhyala Kiran, Cuenco Karen, Cowgill Amy, Vogel Jan, Reeder Jens, Yaspan Brian, Hunkapiller Julie, Brauer Matt, Behrens Tim, Forrest William, Bhangale Tush |
Structural equation modeling for hypertension and type 2 diabetes based on multiple SNPs and multiple phenotypes.
PloS one 2019 14 (9): e0217189. Jeon Saebom, Shin Ji-Yeon, Yee Jaeyong, Park Taesung, Park Mi |
| Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration. Genes 2019 10 10 (10): . Shoshany Nadav, Weiner Chen, Safir Margarita, Einan-Lifshitz Adi, Pokroy Russell, Kol Ayala, Modai Shira, Shomron Noam, Pras Er |
| Rucaparib for patients with platinum-sensitive, recurrent ovarian carcinoma (ARIEL3): post-progression outcomes and updated safety results from a randomised, placebo-controlled, phase 3 trial. The Lancet. Oncology 2020 5 21 (5): 710-722. Ledermann Jonathan A, Oza Amit M, Lorusso Domenica, Aghajanian Carol, Oaknin Ana, Dean Andrew, Colombo Nicoletta, Weberpals Johanne I, Clamp Andrew R, Scambia Giovanni, Leary Alexandra, Holloway Robert W, Gancedo Margarita Amenedo, Fong Peter C, Goh Jeffrey C, O'Malley David M, Armstrong Deborah K, Banerjee Susana, García-Donas Jesus, Swisher Elizabeth M, Cameron Terri, Maloney Lara, Goble Sandra, Coleman Robert |
| Complement family member CFI polymorphisms and AMD susceptibility from a comprehensive analysis. Bioscience reports 2020 Mar . Yu Qianqian, Zhu Jing, Yao Yong, Sun Ch |
| Predictive factors for early progression during induction chemotherapy and chemotherapy-free interval: analysis from PRODIGE 9 trial. British journal of cancer 2020 Feb . Aparicio Thomas, Bennouna Jaafar, Le Malicot Karine, Boige Valérie, Taieb Julien, Bouché Olivier, Phelip Jean-Marc, François Eric, Borel Christian, Faroux Roger, Dahan Laetitia, Bachet Jean-Baptiste, Egreteau Joelle, Kaminsky Marie-Christine, Gornet Jean-Marc, Cojocarasu Oana, Gasmi Mohamed, Guerin-Meyer Véronique, Lepage Côme, Ghiringhelli François, |
| Prevalence and phenotype associations of complement factor I mutations in geographic atrophy. Human mutation 2021 6 42 (9): 1139-1152. Khan Adnan H, Sutton Janice, Cree Angela J, Khandhadia Samir, De Salvo Gabriella, Tobin John, Prakash Priya, Arora Rashi, Amoaku Winfried, Charbel Issa Peter, MacLaren Robert E, Bishop Paul N, Peto Tunde, Mohamed Quresh, Steel David H, Sivaprasad Sobha, Bailey Clare, Menon Geeta, Kavanagh David, Lotery Andrew |
| Complement Factor I Mutation May Contribute to Development of Thrombotic Microangiopathy in Lupus Nephritis. Frontiers in medicine 2021 2 7 621609. Tseng Min-Hua, Fan Wen-Lang, Liu Hsuan, Yang Chia-Yu, Ding Jhao-Jhuang, Lee Hwei-Jen, Huang Shih-Ming, Lin Shih-Hua, Huang Jing-Lo |
| Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy. JAMA ophthalmology 2021 Oct . de Breuk Anita, Heesterbeek Thomas J, Bakker Bjorn, Verzijden Timo, Lechanteur Yara T E, Klaver Caroline C W, den Hollander Anneke I, Hoyng Carel |
| An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access. PloS one 2022 9 17 (9): e0272260. Jones Amy V, Curtiss Darin, Harris Claire, Southerington Tom, Hautalahti Marco, Wihuri Pauli, Mäkelä Johanna, Kallionpää Roosa E, Makkonen Enni, Knopp Theresa, Mannermaa Arto, Mäkinen Erna, Moilanen Anne-Mari, Tezel Tongalp H, , Waheed Nadia |
| Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene. Stem cell research 2022 5 62 102796. de Jong Sarah, Koolen Louet, Vázquez-Domínguez Irene, de Breuk Anita, Albert Silvia, Hoyng Carel B, Katti Suresh, den Hollander Anneke I, Garanto Alejand |
| Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene. Stem cell research 2022 5 62 102797. de Jong Sarah, Koolen Louet, Vázquez-Domínguez Irene, de Breuk Anita, Albert Silvia, Hoyng Carel B, Katti Suresh, den Hollander Anneke I, Garanto Alejand |
| Vignette-Based Reflections to Inform Genetic Testing Policies in Living Kidney Donors. Genes 2022 4 13 (4): . Singh Gurmukteshwar, Gohh Reginald, Clark Dinah, Kalra Kartik, Das Manoj, Bradauskaite Gitana, Bleyer Anthony J, Tanriover Bekir, Chang Alex R, Anand Prince |
| Longitudinal Analysis of the Retina and Choroid in Cognitively Normal Individuals at Higher Genetic Risk of Alzheimer Disease. Ophthalmology. Retina 2022 3 6 (7): 607-619. Ma Justin P, Robbins Cason B, Lee Jia Min, Soundararajan Srinath, Stinnett Sandra S, Agrawal Rupesh, Plassman Brenda L, Lad Eleonora M, Whitson Heather, Grewal Dilraj S, Fekrat Shar |
| Rare Variants in Complement Gene in C3 Glomerulopathy and Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis. Clinical journal of the American Society of Nephrology : CJASN 2023 8 . Marie Sophie Meuleman, Paula Vieira Martins, Carine El Sissy, Vincent Audard, Véronique Baudouin, Dominique Bertrand, Frank Bridoux, Férielle Louillet, Claire Dossier, Vincent Esnault, Noémie Jourde-Chiche, Alexandre Karras, Marie-Pascale Morin, François Provot, Philippe Remy, David Ribes, Caroline Rousset-Rouviere, Aude Servais, Eric Thervet, Leila Tricot, Mohamad Zaidan, Alain Wynckel, Julien Zuber, Moglie Le Quintrec, Véronique Frémeaux-Bacchi, Sophie Chauv |
| Ultra-rare complement factor 8 coding variants in families with age-related macular degeneration. iScience 2023 5 26 (4): 106417. Lina Zelinger, Tammy M Martin, Jayshree Advani, Laura Campello, Milton A English, Alan Kwong, Claire Weber, Jennifer Maykoski, Yuri V Sergeev, Robert Fariss, Emily Y Chew, Michael L Klein, Anand Swaro |
| Disease progression and costs at the 3-year follow-up of the GERAS-US study. Alzheimer's & dementia (Amsterdam, Netherlands) 2023 4 15 (2): e12430. Julie M Chandler, Dorene M Rentz, Anthony Zagar, Yongin Kim, Ronald L Schwartz, Howard Fill |
| Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration. Ophthalmology science 2023 3 3 (2): 100265. Seddon Johanna M, Rosner Bernard, De Dikha, Huan Tianxiao, Java Anuja, Atkinson Jo |
| Targeted genotyping of COVID-19 patients reveals a signature of complement C3 and factor B coding SNPs associated with severe infection. Immunobiology 2023 2 228 (2): 152351. Tsiftsoglou Stefanos A, Gavriilaki Eleni, Touloumenidou Tasoula, Koravou Evaggelia-Evdoxia, Koutra Maria, Papayanni Penelope Georgia, Karali Vassiliki, Papalexandri Apostolia, Varelas Christos, Chatzopoulou Fani, Chatzidimitriou Maria, Chatzidimitriou Dimitrios, Veleni Anastasia, Rapti Evdoxia, Kioumis Ioannis, Kaimakamis Evaggelos, Bitzani Milly, Boumpas Dimitrios T, Tsantes Argyris, Sotiropoulos Damianos, Papadopoulou Anastasia, Sakellari Ioanna, Kokoris Styliani, Anagnostopoulos Achill |
| Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration. Human molecular genetics 2023 11 . Alan Kwong, Matthew Zawistowski, Lars G Fritsche, Xiaowei Zhan, Jennifer Bragg-Gresham, Kari E Branham, Jayshree Advani, Mohammad Othman, Rinki Ratnapriya, Tanya M Teslovich, Dwight Stambolian, Emily Y Chew, Gonçalo R Abecasis, Anand Swaro |
| Amyloid and Tau Prediction of Cognitive and Functional Decline in Unimpaired Older Individuals: Longitudinal Data from the A4 and LEARN Studies. The journal of prevention of Alzheimer's disease 2024 7 11 (4): 802-813. R A Sperling, M C Donohue, R A Rissman, K A Johnson, D M Rentz, J D Grill, J L Heidebrink, C Jenkins, G Jimenez-Maggiora, O Langford, A Liu, R Raman, R Yaari, K C Holdridge, J R Sims, P S Ais |
| The role of complement factor I rare genetic variants in age related macular degeneration in Finland. Human molecular genetics 2024 11 . Anneliza Andreadi, Thomas M Hallam, Vicky Brocklebank, Scott J Sharp, Patrick R Walsh, Tom Southerington, Marco Hautalahti, David H Steel, Andrew J Lotery, Claire L Harris, Kevin J Marchbank, David Kavanagh, Amy V Jon |
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