Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient's profile submitted to phlebotomy in two reference centers in southern Brazil.
Genetics And Molecular Biology
Kersting, Nathalia N; Fontana, Juliana Cristine JC; Athayde, Fabiane Pohlmann de FP; Carlotto, Fernanda Marcante FM; Machado, Bruna Accorsi BA; Araújo, Cristiane da Silva Rodrigues de CDSR; Sekine, Leo L; Onsten, Tor Gunnar Hugo TGH; Leistner-Segal, Sandra S
Kiani, Aysha Karim AK; Medori, Maria Chiara MC; Dhuli, Kristjana K; Donato, Kevin K; Caruso, Paola P; Fioretti, Francesco F; Perrone, Marco Alfonso MA; Ceccarini, Maria Rachele MR; Manganotti, Paolo P; Nodari, Savina S; Codini, Michela M; Beccari, Tommaso T; Bertelli, Matteo M
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Hepatitis B virus compartmentalization and single-cell differentiation in hepatocellular carcinoma.
Life Science Alliance
Jühling, Frank F; Saviano, Antonio A; Ponsolles, Clara C; Heydmann, Laura L; Crouchet, Emilie E; Durand, Sarah C SC; El Saghire, Houssein H; Felli, Emanuele E; Lindner, Véronique V; Pessaux, Patrick P; Pochet, Nathalie N; Schuster, Catherine C; Verrier, Eloi R ER; Baumert, Thomas F TF
Impact of HFE gene variants on iron overload, overall survival and leukemia-free survival in myelodysplastic syndromes.
American Journal Of Cancer Research
Schneeweiss-Gleixner, Mathias M; Greiner, Georg G; Herndlhofer, Susanne S; Schellnegger, Julia J; Krauth, Maria-Theresa MT; Gleixner, Karoline V KV; Wimazal, Friedrich F; Steinhauser, Corinna C; Kundi, Michael M; Thalhammer, Renate R; Schwarzinger, Ilse I; Hoermann, Gregor G; Esterbauer, Harald H; Födinger, Manuela M; Valent, Peter P; Sperr, Wolfgang R WR
A Simple RFLP-Based Method for HFE Gene Multiplex Amplification and Determination of Hereditary Hemochromatosis-Causing Mutation C282Y and H63D Variant with Highly Sensitive Determination of Contamination.
Biomed Research International
Ogouma-Aworet, Ludmilla L; Rabes, Jean-Pierre JP; de Mazancourt, Philippe P
Publication Date: 2020
Variant appearance in text: HFE: Ser65Cys; rs1800730
Dietary Iron Intakes in Men in Europe Are Distinctly Above the Recommendations: A Review of 39 National Studies From 20 Countries in the Period 1995 - 2016.
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
Cell
Vuckovic, Dragana D; Bao, Erik L EL; Akbari, Parsa P; Lareau, Caleb A CA; Mousas, Abdou A; Jiang, Tao T; Chen, Ming-Huei MH; Raffield, Laura M LM; Tardaguila, Manuel M; Huffman, Jennifer E JE; Ritchie, Scott C SC; Megy, Karyn K; Ponstingl, Hannes H; Penkett, Christopher J CJ; Albers, Patrick K PK; Wigdor, Emilie M EM; Sakaue, Saori S; Moscati, Arden A; Manansala, Regina R; Lo, Ken Sin KS; Qian, Huijun H; Akiyama, Masato M; Bartz, Traci M TM; Ben-Shlomo, Yoav Y; Beswick, Andrew A; Bork-Jensen, Jette J; Bottinger, Erwin P EP; Brody, Jennifer A JA; van Rooij, Frank J A FJA; Chitrala, Kumaraswamy N KN; Wilson, Peter W F PWF; Choquet, Hélène H; Danesh, John J; Di Angelantonio, Emanuele E; Dimou, Niki N; Ding, Jingzhong J; Elliott, Paul P; Esko, Tõnu T; Evans, Michele K MK; Felix, Stephan B SB; Floyd, James S JS; Broer, Linda L; Grarup, Niels N; Guo, Michael H MH; Guo, Qi Q; Greinacher, Andreas A; Haessler, Jeff J; Hansen, Torben T; Howson, Joanna M M JMM; Huang, Wei W; Jorgenson, Eric E; Kacprowski, Tim T; Kähönen, Mika M; Kamatani, Yoichiro Y; Kanai, Masahiro M; Karthikeyan, Savita S; Koskeridis, Fotios F; Lange, Leslie A LA; Lehtimäki, Terho T; Linneberg, Allan A; Liu, Yongmei Y; Lyytikäinen, Leo-Pekka LP; Manichaikul, Ani A; Matsuda, Koichi K; Mohlke, Karen L KL; Mononen, Nina N; Murakami, Yoshinori Y; Nadkarni, Girish N GN; Nikus, Kjell K; Pankratz, Nathan N; Pedersen, Oluf O; Preuss, Michael M; Psaty, Bruce M BM; Raitakari, Olli T OT; Rich, Stephen S SS; Rodriguez, Benjamin A T BAT; Rosen, Jonathan D JD; Rotter, Jerome I JI; Schubert, Petra P; Spracklen, Cassandra N CN; Surendran, Praveen P; Tang, Hua H; Tardif, Jean-Claude JC; Ghanbari, Mohsen M; Völker, Uwe U; Völzke, Henry H; Watkins, Nicholas A NA; Weiss, Stefan S; , ; Cai, Na N; Kundu, Kousik K; Watt, Stephen B SB; Walter, Klaudia K; Zonderman, Alan B AB; Cho, Kelly K; Li, Yun Y; Loos, Ruth J F RJF; Knight, Julian C JC; Georges, Michel M; Stegle, Oliver O; Evangelou, Evangelos E; Okada, Yukinori Y; Roberts, David J DJ; Inouye, Michael M; Johnson, Andrew D AD; Auer, Paul L PL; Astle, William J WJ; Reiner, Alexander P AP; Butterworth, Adam S AS; Ouwehand, Willem H WH; Lettre, Guillaume G; Sankaran, Vijay G VG; Soranzo, Nicole N
Publication Date: 2020-09-03
Variant appearance in text: HFE: Ser65Cys; rs1800730
Human Fibrosis: Is There Evidence for a Genetic Predisposition in Musculoskeletal Tissues?
The Journal Of Arthroplasty
Dagneaux, Louis L; Owen, Aaron R AR; Bettencourt, Jacob W JW; Barlow, Jonathan D JD; Amadio, Peter C PC; Kocher, Jean P JP; Morrey, Mark E ME; Sanchez-Sotelo, Joaquin J; Berry, Daniel J DJ; van Wijnen, Andre J AJ; Abdel, Matthew P MP
The Effectiveness of Different Doses of Iron Supplementation and the Prenatal Determinants of Maternal Iron Status in Pregnant Spanish Women: ECLIPSES Study.