Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 104 Records) |
Query Trace: CFI[original query] |
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Distinct genetic profile with recurrent population-specific missense variants in Korean adult atypical hemolytic uremic syndrome. Thrombosis research 2020 11 194 45-53. Yun Jae Won, Oh Jisu, Lee Ki-O, Lee Seon Ju, Kim Jung Oh, Kim Nam Keun, Kim Jin Seok, Koh Youngil, Yoon Sung-Soo, Yhim Ho-Young, Jo Sang-Kyung, Park Yong, Lee Jung Eun, Park Jinny, Lee Jong Wook, Kim Sun-Hee, Kim Hee-Jin, Oh Doyeun, , |
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 |
A Candidate Prognostic Biomarker Complement Factor I Promotes Malignant Progression in Glioma. Frontiers in cell and developmental biology 2021 2 8 615970. Cai Xiaomin, Qiu Wenjin, Qian Mengshu, Feng Shuang, Peng Chenghao, Zhang Jiale, Wang Yi, Wang Yuh |
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 |
Cognitive appraisals of dissociation in psychosis: a new brief measure. Behavioural and cognitive psychotherapy 2021 1 49 (4): 1-13. ?ernis Emma, Bird Jessica C, Molodynski Andrew, Ehlers Anke, Freeman Dani |
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 |
Characterization of polymorphisms in CFI and ARMS genes and their association with exudative age-related macular degeneration in Algerian patients. Molecular biology research communications 2022 9 11 (2): 105-111. Abid Ghania, Messal Ahlem, Harmel Mohammed, Idder Aicha, Fodil Mostefa, Zemani-Fodil Faouz |
Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection. Current issues in molecular biology 2022 7 44 (7): 2811-2824. Gavriilaki Eleni, Tsiftsoglou Stefanos A, Touloumenidou Tasoula, Farmaki Evangelia, Panagopoulou Paraskevi, Michailidou Elissavet, Koravou Evaggelia-Evdoxia, Mavrikou Ioulia, Iosifidis Elias, Tsiatsiou Olga, Papadimitriou Eleni, Papadopoulou-Alataki Efimia, Papayanni Penelope Georgia, Varelas Christos, Kokkoris Styliani, Papalexandri Apostolia, Fotoulaki Maria, Galli-Tsinopoulou Assimina, Zafeiriou Dimitrios, Roilides Emmanuel, Sakellari Ioanna, Anagnostopoulos Achilles, Tragiannidis Athanasi |
Evaluating a Causal Relationship between Complement Factor I Protein Level and Advanced Age-Related Macular Degeneration Using Mendelian Randomization.
Ophthalmology science 2022 Jun 2 (2): . Jones Amy V, MacGregor Stuart, Han Xikun, Francis James, Harris Claire, , Kavanagh David, Lotery Andrew, Waheed Nad |
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 |
Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank. Human molecular genetics 2022 3 31 (16): 2678-2692. Tzoumas Nikolaos, Kavanagh David, Cordell Heather J, Lotery Andrew J, Patel Praveen J, Steel David |
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 |
Genetic and environmental risk factors for reticular pseudodrusen in the EUGENDA study. Molecular vision 2021 27 757-767. Altay Lebriz, Liakopoulos Sandra, Berghold Aileen, Rosenberger Kerstin-Daniela, Ernst Angela, de Breuk Anita, den Hollander Anneke I, Fauser Sascha, Schick Ti |
Association of CFI, IL-8, TF and TFR2 Genetic Polymorphisms with Age-Related Macular Degeneration in a Northeastern Chinese Population. Current eye research 2022 Feb 1-10. Xu Zhi-Yu, Gao Jing-Fan, Zhang |
Spatial Distribution of Missense Variants within Complement Proteins Associates with Age Related Macular Degeneration. medRxiv : the preprint server for health sciences 2023 9 . Michelle Grunin, Sarah de Jong, Ellen L Palmer, Bowen Jin, David Rinker, Christopher Moth, Anthony Capra, Jonathan L Haines, William S Bush, Anneke I den Hollander, |
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 |
Pathogenesis of myopic choroidal neovascularization: A systematic review and meta-analysis. Survey of ophthalmology 2023 7 . Xiu Juan Zhang, Xiu Nian Chen, Fang Yao Tang, Simon Szeto, Xiang Tian Ling, Zi Xuan Lin, Clement C Tham, Chi Pui Pang, Li Jia Chen, Jason C Y |
A single-center experience of post-transplant atypical hemolytic uremic syndrome. Clinical nephrology 2023 6 . Bassam G Abu Jawdeh, Muhammad A Kh |
Complement Factor I Gene Variant as a Treatable Cause of Recurrent Aseptic Neutrophilic Meningitis: A Case Report. Neurology(R) neuroimmunology & neuroinflammation 2023 6 10 (5): . Mary Rolfes, Adil Harroud, Kelsey C Zorn, Asritha Tubati, Charles Omura, Kenneth Kurtz, Mehrdad Matloubian, Amy Berger, Charles Y Chiu, Michael R Wilson, Prashanth S Ramachandr |
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 |
Polymorphisms in CFI and ARMS genes and exudative age-related macular degeneration: Correspondence. Molecular biology research communications 2023 2 11 (4): 187. Mungmunpuntipantip Rujittika, Wiwanitkit Vir |
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 |
Evaluation of the significance of complement-related genes mutations in atypical postinfectious glomerulonephritis: a pilot study. International urology and nephrology 2023 10 . Feng Xu, Changming Zhang, Mingchao Zhang, Xiaodong Zhu, Shuiqin Cheng, Zhen Cheng, Caihong Zeng, Song Jia |
Rare Germline Complement Factor H Variants in Patients with Paroxysmal Nocturnal Hemoglobinuria. Blood 2023 1 . Prata Pedro Henrique, Galimard Jacques-Emmanuel, Sicre de Fontbrune Flore, Duval Anna, Vieira-Martins Paula, Roncelin Stephane, Debureaux Pierre-Edouard, Lepretre Anne Claire, Larcher Lise, Birsen Rudy, Benhamou Ygal, Soulier Jean, Socie Gérard, Fremeaux-Bacchi Véronique, Peffault de Latour Rég |
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- Page last updated:Apr 16, 2024
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