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A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1
Monfrini, Edoardo, Pelucchi, Sara, Hollmén, Maija, Viitala, Miro, Mariani, Raffaella, Bertola, Francesca, Majore, Silvia, Di Fonzo, Alessio, Piperno, Alberto
Published in American journal of human genetics (03.08.2023)
Published in American journal of human genetics (03.08.2023)
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New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN
Hogarth, Penelope, Gregory, Allison, Kruer, Michael C, Sanford, Lynn, Wagoner, Wendy, Natowicz, Marvin R, Egel, Robert T, Subramony, S H, Goldman, Jennifer G, Berry-Kravis, Elizabeth, Foulds, Nicola C, Hammans, Simon R, Desguerre, Isabelle, Rodriguez, Diana, Wilson, Callum, Diedrich, Andrea, Green, Sarah, Tran, Huong, Reese, Lindsay, Woltjer, Randall L, Hayflick, Susan J
Published in Neurology (15.01.2013)
Published in Neurology (15.01.2013)
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Haemochromatosis in children: A national retrospective cohort promoted by the A.I.E.O.P. (Associazione Italiana Emato‐Oncologia Pediatrica) study group
Corti, Paola, Ferrari, Giulia Maria, Faraguna, Martha Caterina, Capitoli, Giulia, Longo, Filomena, Corradini, Elena, Casini, Tommaso, Boscarol, Gianluca, Pinto, Valeria Maria, Ghilardi, Roberta, Russo, Giovanna, Colombatti, Raffaella, Mariani, Raffaella, Piperno, Alberto
Published in British journal of haematology (01.01.2024)
Published in British journal of haematology (01.01.2024)
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Impaired neutrophil extracellular trap formation in β-thalassaemia/HbE
Thubthed, Rattanawan, Siriworadetkun, Sirikwan, Paiboonsukwong, Kittiphong, Fucharoen, Suthat, Pattanapanyasat, Kovit, Vadolas, Jim, Svasti, Saovaros, Chaichompoo, Pornthip
Published in Scientific reports (04.02.2022)
Published in Scientific reports (04.02.2022)
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Correlation of dystonia severity and iron accumulation in Rett syndrome
Jan, Tz-Yun, Wong, Lee-Chin, Yang, Ming-Tao, Huang, Chien-Feng Judith, Hsu, Chia-Jui, Peng, Steven Shinn-Forng, Tseng, Wen-Yih Isaac, Lee, Wang-Tso
Published in Scientific reports (12.01.2021)
Published in Scientific reports (12.01.2021)
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Hepcidin and iron-related gene expression in subjects with Dysmetabolic Hepatic Iron Overload
Barisani, Donatella, Pelucchi, Sara, Mariani, Raffaella, Galimberti, Stefania, Trombini, Paola, Fumagalli, Daniela, Meneveri, Raffaella, Nemeth, Elizabeta, Ganz, Tomas, Piperno, Alberto
Published in Journal of hepatology (01.07.2008)
Published in Journal of hepatology (01.07.2008)
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Transferrin and HFE genes interact in Alzheimer's disease risk: the Epistasis Project
Lehmann, Donald J., Schuur, Maaike, Warden, Donald R., Hammond, Naomi, Belbin, Olivia, Kölsch, Heike, Lehmann, Michael G., Wilcock, Gordon K., Brown, Kristelle, Kehoe, Patrick G., Morris, Chris M., Barker, Rachel, Coto, Eliecer, Alvarez, Victoria, Deloukas, Panos, Mateo, Ignacio, Gwilliam, Rhian, Combarros, Onofre, Arias-Vásquez, Alejandro, Aulchenko, Yurii S., Ikram, M. Arfan, Breteler, Monique M., van Duijn, Cornelia M., Oulhaj, Abderrahim, Heun, Reinhard, Cortina-Borja, Mario, Morgan, Kevin, Robson, Kathryn, Smith, A. David
Published in Neurobiology of aging (01.01.2012)
Published in Neurobiology of aging (01.01.2012)
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Differences In Hepatic Expression of Iron, Inflammation and Stress-Related Genes in Patients with Nonalcoholic Steatohepatitis
Handa, Priya, Maliken, Bryan D., Nelson, James E., Hennessey, Kelly A., Akhila Vemulakonda, L., Morgan-Stevenson, Vicki, Dhillon, Barjinder K., Gupta, Rohit, Yeh, Matthew M., Kowdley, Kris V.
Published in Annals of hepatology (01.01.2017)
Published in Annals of hepatology (01.01.2017)
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Hemochromatosis mutations in the general population: iron overload progression rate
Andersen, Rolf Værn, Tybjærg-Hansen, Anne, Appleyard, Merete, Birgens, Henrik, Nordestgaard, Børge Grønne
Published in Blood (15.04.2004)
Published in Blood (15.04.2004)
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A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation
Gochee, Peter A, Powell, Lawrie W, Cullen, Digby J, Du Sart, Desiree, Rossi, Enrico, Olynyk, John K
Published in Gastroenterology (New York, N.Y. 1943) (01.03.2002)
Published in Gastroenterology (New York, N.Y. 1943) (01.03.2002)
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Redox active plasma iron in C282Y/C282Y hemochromatosis
Le Lan, Caroline, Loréal, Olivier, Cohen, Tally, Ropert, Martine, Glickstein, Hava, Lainé, Fabrice, Pouchard, Michel, Deugnier, Yves, Le Treut, André, Breuer, William, Cabantchik, Z. Ioav, Brissot, Pierre
Published in Blood (01.06.2005)
Published in Blood (01.06.2005)
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Autosomal dominant reticuloendothelial iron overload associated with a 3–base pair deletion in the ferroportin 1 gene(SLC11A3)
Devalia, Vinod, Carter, Kymberley, Walker, Ann P., Perkins, Stephen J., Worwood, Mark, May, Alison, Dooley, James S.
Published in Blood (15.07.2002)
Published in Blood (15.07.2002)
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Altered hepatic BMP signaling pathway in human HFE hemochromatosis
Bolondi, Giuliano, Garuti, Cinzia, Corradini, Elena, Zoller, Heinz, Vogel, Wolfgang, Finkenstedt, Armin, Babitt, Jodie L., Lin, Herbert Y., Pietrangelo, Antonello
Published in Blood cells, molecules, & diseases (15.12.2010)
Published in Blood cells, molecules, & diseases (15.12.2010)
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Effects of C282Y, H63D, and S65C HFE gene mutations, diet, and life-style factors on iron status in a general Mediterranean population from Tarragona, Spain
Aranda, Núria, Viteri, Fernando E, Montserrat, Carme, Arija, Victoria
Published in Annals of hematology (01.08.2010)
Published in Annals of hematology (01.08.2010)
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Hepcidin Is Down-Regulated in Alcohol Loading
Ohtake, Takaaki, Saito, Hiroyuki, Hosoki, Yayoi, Inoue, Mitsutaka, Miyoshi, Shigeki, Suzuki, Yasuaki, Fujimoto, Yoshinori, Kohgo, Yutaka
Published in Alcoholism, clinical and experimental research (01.01.2007)
Published in Alcoholism, clinical and experimental research (01.01.2007)
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Analysis of Familial Tendencies in Transferrin Saturation in a Korean Population
Oh, Sung-Hee, Jeong, Tae-Dong, Lee, Woochang, Chun, Sail, Min, Won-Ki
Published in Digestive diseases and sciences (01.10.2015)
Published in Digestive diseases and sciences (01.10.2015)
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Natural history of juvenile haemochromatosis
De Gobbi, Marco, Roetto, Antonella, Piperno, Alberto, Mariani, Raffaella, Alberti, Federica, Papanikolaou, George, Politou, Marianna, Lockitch, Gillian, Girelli, Domenico, Fargion, Silvia, Cox, Thimoty M., Gasparini, Paolo, Cazzola, Mario, Camaschella, Clara
Published in British journal of haematology (01.06.2002)
Published in British journal of haematology (01.06.2002)
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The -582A>G variant of the HAMP promoter is not associated with high serum ferritin levels in normal subjects
Bruno, F., Bonalumi, S., Camaschella, C., Ferrari, M., Cremonesi, L.
Published in Haematologica (Roma) (01.05.2010)
Published in Haematologica (Roma) (01.05.2010)
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