Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Anemia and PKLR[original query] |
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Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria. PloS one 2012 7 (10): 10. Machado P, Manco L, Gomes C, Mendes C, Fernandes N, Salomé G, Sitoe L, Chibute S, Langa J, Ribeiro L, Miranda J, Cano J, Pinto J, Amorim A, do Rosário VE, Arez AP |
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. American journal of human genetics 2016 Jun . Chami Nathalie, Chen Ming-Huei, Slater Andrew J, Eicher John D, Evangelou Evangelos, Tajuddin Salman M, Love-Gregory Latisha, Kacprowski Tim, Schick Ursula M, Nomura Akihiro, Giri Ayush, Lessard Samuel, Brody Jennifer A, Schurmann Claudia, Pankratz Nathan, Yanek Lisa R, Manichaikul Ani, Pazoki Raha, Mihailov Evelin, Hill W David, Raffield Laura M, Burt Amber, Bartz Traci M, Becker Diane M, Becker Lewis C, Boerwinkle Eric, Bork-Jensen Jette, Bottinger Erwin P, O'Donoghue Michelle L, Crosslin David R, de Denus Simon, Dubé Marie-Pierre, Elliott Paul, Engström Gunnar, Evans Michele K, Floyd James S, Fornage Myriam, Gao He, Greinacher Andreas, Gudnason Vilmundur, Hansen Torben, Harris Tamara B, Hayward Caroline, Hernesniemi Jussi, Highland Heather M, Hirschhorn Joel N, Hofman Albert, Irvin Marguerite R, Kähönen Mika, Lange Ethan, Launer Lenore J, Lehtimäki Terho, Li Jin, Liewald David C M, Linneberg Allan, Liu Yongmei, Lu Yingchang, Lyytikäinen Leo-Pekka, Mägi Reedik, Mathias Rasika A, Melander Olle, Metspalu Andres, Mononen Nina, Nalls Mike A, Nickerson Deborah A, Nikus Kjell, O'Donnell Chris J, Orho-Melander Marju, Pedersen Oluf, Petersmann Astrid, Polfus Linda, Psaty Bruce M, Raitakari Olli T, Raitoharju Emma, Richard Melissa, Rice Kenneth M, Rivadeneira Fernando, Rotter Jerome I, Schmidt Frank, Smith Albert Vernon, Starr John M, Taylor Kent D, Teumer Alexander, Thuesen Betina H, Torstenson Eric S, Tracy Russell P, Tzoulaki Ioanna, Zakai Neil A, Vacchi-Suzzi Caterina, van Duijn Cornelia M, van Rooij Frank J A, Cushman Mary, Deary Ian J, Velez Edwards Digna R, Vergnaud Anne-Claire, Wallentin Lars, Waterworth Dawn M, White Harvey D, Wilson James G, Zonderman Alan B, Kathiresan Sekar, Grarup Niels, Esko Tõnu, Loos Ruth J F, Lange Leslie A, Faraday Nauder, Abumrad Nada A, Edwards Todd L, Ganesh Santhi K, Auer Paul L, Johnson Andrew D, Reiner Alexander P, Lettre Guillau |
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood 2018 3 131 (20): 2183-2192. Grace Rachael F, Bianchi Paola, van Beers Eduard J, Eber Stefan W, Glader Bertil, Yaish Hassan M, Despotovic Jenny M, Rothman Jennifer A, Sharma Mukta, McNaull Melissa M, Fermo Elisa, Lezon-Geyda Kimberly, Morton D Holmes, Neufeld Ellis J, Chonat Satheesh, Kollmar Nina, Knoll Christine M, Kuo Kevin, Kwiatkowski Janet L, Pospíšilová Dagmar, Pastore Yves D, Thompson Alexis A, Newburger Peter E, Ravindranath Yaddanapudi, Wang Winfred C, Wlodarski Marcin W, Wang Heng, Holzhauer Susanne, Breakey Vicky R, Kunz Joachim, Sheth Sujit, Rose Melissa J, Bradeen Heather A, Neu Nolan, Guo Dongjing, Al-Sayegh Hasan, London Wendy B, Gallagher Patrick G, Zanella Alberto, Barcellini Wil |
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. American journal of hematology 2018 2 93 (5): 672-682. Russo Roberta, Andolfo Immacolata, Manna Francesco, Gambale Antonella, Marra Roberta, Rosato Barbara Eleni, Caforio Paola, Pinto Valeria, Pignataro Piero, Radhakrishnan Kottayam, Unal Sule, Tomaiuolo Giovanna, Forni Gian Luca, Iolascon Achil |
Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn. Molecular biology reports 2020 9 47 (10): 8311-8315. Canu Giulia, De Paolis Elisa, Righino Benedetta, Mazzuccato Giorgia, De Paolis Giulio, Capoluongo Ettore, De Rosa Maria Cristina, Urbani Andrea, Gunes Adalet Meral, Minucci Ange |
Comorbidities and complications in adults with pyruvate kinase deficiency. European journal of haematology 2020 12 106 (4): 484-492. Boscoe Audra N, Yan Yan, Hedgeman Elizabeth, van Beers Eduard J, Al-Samkari Hanny, Barcellini Wilma, Eber Stefan W, Glader Bertil, Yaish Hassan M, Chonat Satheesh, Sharma Mukta, Kuo Kevin H M, Neufeld Ellis J, Wang Heng, Verhovsek Madeleine, Sheth Sujit, Grace Rachael |
Putative pathogen-selected polymorphisms in the PKLR gene are associated with mycobacterial susceptibility in Brazilian and African populations. PLoS neglected tropical diseases 2021 8 15 (8): e0009434. Bezerra Ohanna Cavalcanti de Lima, Alvarado-Arnez Lucia Elena, Mabunda Nédio, Salomé Graça, de Sousa Amina, Kehdy Fernanda de Souza Gomes, Sales-Marques Carolinne, Manta Fernanda Saloum de Neves, Andrade Rafaela Mota, Ferreira Laís Pereira, Leal-Calvo Thyago, Cardoso Cynthia Chester, Nunes Kelly, Gouveia Mateus H, Mbulaiteve Sam M, Yeboah Edward D, Hsing Ann, Latini Ana Carla Pereira, Leturiondo André Luiz, Rodrigues Fabíola da Costa, Noronha Ariani Batista, Ferreira Cynthia de Oliveira, Talhari Carolina, Rêgo Jamile Leão, Castellucci Léa Cristina de Carvalho, Tarazona-Santos Eduardo, Carvalho Elizeu Fagundes de, Meyer Diogo, Pinheiro Roberta Olmo, Jani Ilesh V, Pacheco Antonio Guilherme, Moraes Milton Ozór |
Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population. Annals of hematology 2023 3 . Dongerdiye Rashmi, Bokde Meghana, More Tejashree Anil, Saptarshi Arati, Devendra Rati, Chiddarwar Ashish, Warang Prashant, Kedar Prabhak |
Pilot study of correlation of selected genetic factors with cribra orbitalia in individuals from a medieval population from Slovakia. International journal of paleopathology 2023 2 41 1-7. B?andová Gabriela, Patlevi?ová Andrea, Palkovi?ová Jana, Pavlíková Štefánia, Be?uš Radoslav, Repiská Vanda, Baldovi? Mari |
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- Page last updated:Mar 25, 2024
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