Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 46 Records) |
Query Trace: C9[original query] |
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Neuroimaging patterns along the ALS-FTD spectrum: a multiparametric imaging study. Amyotrophic lateral sclerosis & frontotemporal degeneration 2017 May 1-13. Omer Taha, Finegan Eoin, Hutchinson Siobhan, Doherty Mark, Vajda Alice, McLaughlin Russell L, Pender Niall, Hardiman Orla, Bede Pet |
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 |
Sparking Fire Under the Skin? Answers From the Association of Complement Genes With Pemphigus Foliaceus. Frontiers in immunology 2018 9 695. Bumiller-Bini Valéria, Cipolla Gabriel Adelman, de Almeida Rodrigo Coutinho, Petzl-Erler Maria Luiza, Augusto Danillo Gardenal, Boldt Angelica Beate Wint |
Geographic distribution of rare variants associated with age-related macular degeneration. Molecular vision 2018 24 75-82. Geerlings Maartje J, Kersten Eveline, Groenewoud Joannes M M, Fritsche Lars G, Hoyng Carel B, de Jong Eiko K, den Hollander Anneke |
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma.
Scientific reports 2018 Feb 8 (1): 3124. Gharahkhani Puya, Burdon Kathryn P, Cooke Bailey Jessica N, Hewitt Alex W, Law Matthew H, Pasquale Louis R, Kang Jae H, Haines Jonathan L, Souzeau Emmanuelle, Zhou Tiger, Siggs Owen M, Landers John, Awadalla Mona, Sharma Shiwani, Mills Richard A, Ridge Bronwyn, Lynn David, Casson Robert, Graham Stuart L, Goldberg Ivan, White Andrew, Healey Paul R, Grigg John, Lawlor Mitchell, Mitchell Paul, Ruddle Jonathan, Coote Michael, Walland Mark, Best Stephen, Vincent Andrea, Gale Jesse, RadfordSmith Graham, Whiteman David C, Montgomery Grant W, Martin Nicholas G, Mackey David A, Wiggs Janey L, MacGregor Stuart, Craig Jamie E, |
Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study. Annals of neurology 2019 6 86 (2): 158-167. Querin Giorgia, Bede Peter, El Mendili Mohamed Mounir, Li Menghan, Pélégrini-Issac Mélanie, Rinaldi Daisy, Catala Martin, Saracino Dario, Salachas François, Camuzat Agnes, Marchand-Pauvert Véronique, Cohen-Adad Julien, Colliot Olivier, Le Ber Isabelle, Pradat Pierre-François, |
Increased prevalence of granulovacuolar degeneration in C9orf72 mutation. Acta neuropathologica 2019 5 138 (5): 783-793. Riku Yuichi, Duyckaerts Charles, Boluda Susana, Plu Isabelle, Le Ber Isabelle, Millecamps Stéphanie, Salachas François, , Yoshida Mari, Ando Takashi, Katsuno Masahisa, Sobue Gen, Seilhean Daniel |
C9orf72 repeat expansions in South Africans with amyotrophic lateral sclerosis. Journal of the neurological sciences 2019 Apr 401 51-54. Nel Melissa, Agenbag Gloudi M, Henning Franclo, Cross Helen M, Esterhuizen Alina, Heckmann Jeannine |
Familial resemblances in human plasma metabolites are attributable to both genetic and common environmental effects. Nutrition research (New York, N.Y.) 2019 1 61 22-30. Tremblay Bénédicte L, Guénard Frédéric, Lamarche Benoît, Pérusse Louis, Vohl Marie-Clau |
Effect of GH p.L127V Polymorphism and Feeding Systems on Milk Production Traits and Fatty Acid Composition in Modicana Cows. Animals : an open access journal from MDPI 2020 Sep 10 (9): . Bordonaro Salvatore, Tumino Serena, Marletta Donata, De Angelis Anna, Di Paola Fortunato, Avondo Marcella, Valenti Bernar |
Complement protein levels and MBL2 polymorphisms are associated with dengue and disease severity. Scientific reports 2020 Sep 10 (1): 14923. Giang Ngo Truong, van Tong Hoang, Quyet Do, Hoan Nghiem Xuan, Nghia Trinh Huu, Nam Nguyen Minh, Hung Hoang Vu, Anh Do Tuan, Van Mao Can, Son Ho Anh, Meyer Christian G, Velavan Thirumalaisamy P, Toan Nguyen Li |
CYP2 C9 polymorphism among patients with oral squamous cell carcinoma and its role in altering the metabolism of benzo[a]pyrene. Oral surgery, oral medicine, oral pathology and oral radiology 2020 Jul . R Hannah, Ramani Pratibha, Ramanathan Arvind, R Jancy Merlin, S Gheena, Ramasubramanian Abilasha, K Moni |
Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium. Ophthalmology 2020 Jul . de Breuk Anita, Acar Ilhan E, Kersten Eveline, Schijvenaars Mascha M V A P, Colijn Johanna M, Haer-Wigman Lonneke, Bakker Bjorn, de Jong Sarah, Meester-Smoor Magda A, Verzijden Timo, Missotten Tom O A R, Monés Jordi, Biarnés Marc, Pauleikhoff Daniel, Hense Hans W, Silva Rufino, Nunes Sandrina, Melo Joana B, Fauser Sascha, Hoyng Carel B, Ueffing Marius, Coenen Marieke J H, Klaver Caroline C W, den Hollander Anneke I, |
Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jul . Squitieri Ferdinando, Mazza Tommaso, Maffi Sabrina, De Luca Alessandro, AlSalmi Qasem, AlHarasi Salma, Collins Jennifer A, Kay Chris, Baine-Savanhu Fiona, Landwhermeyer Bernard G, Sabatini Umberto, Hayden Michael |
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration. Human molecular genetics 2020 Apr . Ratnapriya Rinki, Acar ?lhan E, Geerlings Maartje J, Branham Kari, Kwong Alan, Saksens Nicole T M, Pauper Marc, Corominas Jordi, Kwicklis Madeline, Zipprer David, Starostik Margaret R, Othman Mohammad, Yashar Beverly, Abecasis Goncalo R, Chew Emily Y, Ferrington Deborah A, Hoyng Carel B, Swaroop Anand, den Hollander Anneke |
Resting State Functional Connectivity Is Decreased Globally Across the C9orf72 Mutation Spectrum. Frontiers in neurology 2020 12 11 598474. Smallwood Shoukry Rachel F, Clark Michael G, Floeter Mary K |
CYP450 polymorphisms and clinical pharmacogenetics of ibuprofen after lower third molar extraction. European journal of clinical pharmacology 2020 Nov . Weckwerth Giovana M, Dionísio Thiago J, Costa Yuri M, Colombini-Ishiquiriama Bella L, Oliveira Gabriela M, Torres Elza A, Bonjardim Leonardo R, Calvo Adriana M, Moore Troy, Absher Devin M, Santos Carlos |
Structural MRI Signatures in Genetic Presentations of the Frontotemporal Dementia/Motor Neuron Disease Spectrum. Neurology 2021 9 97 (16): e1594-e1607. Spinelli Edoardo Gioele, Ghirelli Alma, Basaia Silvia, Cividini Camilla, Riva Nilo, Canu Elisa, Castelnovo Veronica, Domi Teuta, Magnani Giuseppe, Caso Francesca, Caroppo Paola, Prioni Sara, Rossi Giacomina, Tremolizzo Lucio, Appollonio Ildebrando, Silani Vincenzo, Carrera Paola, Filippi Massimo, Agosta Federi |
Associations between lifestyle and amyotrophic lateral sclerosis stratified by C9orf72 genotype: a longitudinal, population-based, case-control study. The Lancet. Neurology 2021 05 20 (5): 373-384. Westeneng Henk-Jan, van Veenhuijzen Kevin, van der Spek Rick A, Peters Susan, Visser Anne E, van Rheenen Wouter, Veldink Jan H, van den Berg Leonard |
The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade. Human molecular genetics 2021 3 30 (13): 1188-1199. McMahon O, Hallam T M, Patel S, Harris C L, Menny A, Zelek W M, Widjajahakim R, Java A, Cox T E, Tzoumas N, Steel D H W, Shuttleworth V G, Smith-Jackson K, Brocklebank V, Griffiths H, Cree A J, Atkinson J P, Lotery A J, Bubeck D, Morgan B P, Marchbank K J, Seddon J M, Kavanagh |
Fluid proteomics of CSF and serum reveal important neuroinflammatory proteins in blood-brain barrier disruption and outcome prediction following severe traumatic brain injury: a prospective, observational study. Critical care (London, England) 2021 3 25 (1): 103. Lindblad Caroline, Pin Elisa, Just David, Al Nimer Faiez, Nilsson Peter, Bellander Bo-Michael, Svensson Mikael, Piehl Fredrik, Thelin Eric Pet |
Fibrinogen and hemoglobin predict near future cardiovascular events in asymptomatic individuals. Scientific reports 2021 2 11 (1): 4605. Lassé Moritz, Pilbrow Anna P, Kleffmann Torsten, Andersson Överström Elin, von Zychlinski Anne, Frampton Christopher M A, Poppe Katrina K, Troughton Richard W, Lewis Lynley K, Prickett Timothy C R, Pemberton Christopher J, Richards Arthur M, Cameron Vicky |
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 |
Complement dysregulation and Alzheimer's disease in Down syndrome. Alzheimer's & dementia : the journal of the Alzheimer's Association 2022 Sep . Veteleanu Aurora, Pape Sarah, Davies Kate, Kodosaki Eleftheria, Hye Abdul, Zelek Wioleta M, Strydom Andre, Morgan B Pa |
Comparative serum proteomic analysis of a selected protein panel in individuals with schizophrenia and bipolar disorder and the impact of genetic risk burden on serum proteomic profiles. Translational psychiatry 2022 11 12 (1): 471. Oraki Kohshour Mojtaba, Kannaiyan Nirmal R, Falk August Jernbom, Papiol Sergi, Heilbronner Urs, Budde Monika, Kalman Janos L, Schulte Eva C, Rietschel Marcella, Witt Stephanie, Forstner Andreas J, Heilmann-Heimbach Stefanie, Nöthen Markus M, Spitzer Carsten, Malchow Berend, Müller Thorsten, Wiltfang Jens, Falkai Peter, Schmitt Andrea, Rossner Moritz J, Nilsson Peter, Schulze Thomas |
Rare variants in complement system genes associate with endothelial damage after pediatric allogeneic hematopoietic stem cell transplantation. Frontiers in immunology 2023 9 14 1249958. Lilli Leimi, Jessica R Koski, Outi Kilpivaara, Kim Vettenranta, A Inkeri Lokki, Seppo Me |
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, |
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies. Neurology. Genetics 2023 6 9 (4): e200079. John Dou, Kelly Bakulski, Kai Guo, Junguk Hur, Lili Zhao, Sara Saez-Atienzar, Ali Stark, Ruth Chia, Alberto García-Redondo, Ricardo Rojas-Garcia, Juan Francisco Vázquez Costa, Ruben Fernandez Santiago, Sara Bandres-Ciga, Pilar Gómez-Garre, Maria Teresa Periñán, Pablo Mir, Jordi Pérez-Tur, Fernando Cardona, Manuel Menendez-Gonzalez, Javier Riancho, Daniel Borrego-Hernández, Lucia Galán-Dávila, Jon Infante Ceberio, Pau Pastor, Carmen Paradas, Oriol Dols-Icardo, Bryan J Traynor, Eva L Feldman, Stephen A Goutman, |
Endo-lysosomal protein concentrations in CSF from patients with frontotemporal dementia caused by CHMP2B mutation. Alzheimer's & dementia (Amsterdam, Netherlands) 2023 2 15 (1): e12402. Toft Anders, Sjödin Simon, Simonsen Anja Hviid, Ejlerskov Patrick, Roos Peter, Musaeus Christian Sandøe, Henriksen Emil Elbæk, Nielsen Troels Tolstrup, Brinkmalm Ann, Blennow Kaj, Zetterberg Henrik, Nielsen Jørgen Er |
Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis. Journal of neurology 2023 11 . Teuta Domi, Paride Schito, Giacomo Sferruzza, Tommaso Russo, Laura Pozzi, Federica Agosta, Paola Carrera, Nilo Riva, Massimo Filippi, Angelo Quattrini, Yuri Matteo Falzo |
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- Page last updated:Apr 22, 2024
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