PMC Links for Books (Select 1476944) - PMC

Select item 57090961.

Ferroportin disease: pathogenesis, diagnosis and treatment

Antonello Pietrangelo

Haematologica. 2017 Dec; 102(12): 1972–1984. Prepublished online 2017 Nov 3. doi: 10.3324/haematol.2017.170720

PMCID:: PMC5709096

Select item 49679012.

Transferrin Receptor 2 Dependent Alterations of Brain Iron Metabolism Affect Anxiety Circuits in the Mouse

Rosa Maria Pellegrino, Enrica Boda, Francesca Montarolo, Martina Boero, Mariarosa Mezzanotte, Giuseppe Saglio, Annalisa Buffo, Antonella Roetto

Sci Rep. 2016; 6: 30725. Published online 2016 Aug 1. doi: 10.1038/srep30725

PMCID:: PMC4967901

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Select item 45447533.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

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Select item 44441644.

Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3

Ricky Joshi, Maya Shvartsman, Erica Morán, Sergi Lois, Jessica Aranda, Anna Barqué, Xavier de la Cruz, Miquel Bruguera, José Manuel Vagace, Guillermo Gervasini, Cristina Sanz, Mayka Sánchez

Mol Genet Genomic Med. 2015 May; 3(3): 221–232. Published online 2015 Mar 6. doi: 10.1002/mgg3.136

PMCID:: PMC4444164

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Select item 31491255.

Diagnosis and Management of Hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases

Bruce R Bacon, Paul C Adams, Kris V Kowdley, Lawrie W Powell, Anthony S Tavill

Hepatology. 2011 Jul; 54(1): 328–343. doi: 10.1002/hep.24330

PMCID:: PMC3149125

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Select item 30692256.

A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis

Domenico Girelli, Paola Trombini, Fabiana Busti, Natascia Campostrini, Marco Sandri, Sara Pelucchi, Mark Westerman, Tomas Ganz, Elizabeta Nemeth, Alberto Piperno, Clara Camaschella

Haematologica. 2011 Apr; 96(4): 500–506. Published online 2010 Dec 20. doi: 10.3324/haematol.2010.033449

PMCID:: PMC3069225

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Select item 30340447.

A Phase 1/2, Dose-Escalation Trial of Deferasirox for the Treatment of Iron Overload in HFE-Related Hereditary Hemochromatosis

Pradyumna Phatak, Pierre Brissot, Mark Wurster, Paul C Adams, Herbert L Bonkovsky, John Gross, Peter Malfertheiner, Gordon D McLaren, Claus Niederau, Alberto Piperno, Lawrie W Powell, Mark W Russo, Ulrich Stoelzel, Wolfgang Stremmel, Louis Griffel, Nicola Lynch, Yiyun Zhang, Antonello Pietrangelo

Hepatology. 2010 Nov; 52(5): 1671–1679. doi: 10.1002/hep.23879

PMCID:: PMC3034044

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Select item 26353898.

Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2

Sara Pelucchi, Raffaella Mariani, Paola Trombini, Sabina Coletti, Matteo Pozzi, Valentina Paolini, Donatella Barisani, Alberto Piperno

Haematologica. 2009 Feb; 94(2): 276–279. Published online 2009 Jan 14. doi: 10.3324/haematol.13576

PMCID:: PMC2635389

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Select item 3107889.

Large-Scale Sequencing of Two Regions in Human Chromosome 7q22: Analysis of 650 kb of Genomic Sequence around the EPO and CUTL1 Loci Reveals 17 Genes

Gernot Glöckner, Stephen Scherer, Ruben Schattevoy, Andrew Boright, Jacqueline Weber, Lap-Chee Tsui, André Rosenthal

Genome Res. 1998 Oct; 8(10): 1060–1073. doi: 10.1101/gr.8.10.1060

PMCID:: PMC310788

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