PMC Links for Books (Select 1499088) - PMC

Anthony R. Gregg, Mahmoud Aarabi, Susan Klugman, Natalia T. Leach, Michael T. Bashford, Tamar Goldwaser, Emily Chen, Teresa N. Sparks, Honey V. Reddi, Aleksandar Rajkovic, Jeffrey S. Dungan, ACMG Professional Practice and Guidelines Committee

Genet Med. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Genet Med. 2021 Oct; 23(10): 1793–1806. Published online 2021 Jul 20. doi: 10.1038/s41436-021-01203-z

Correction in:: Genet Med. 2021 Oct; 23(10): 2015.

PMCID:: PMC8488021

Abstract Article PDF–643K

Select item 76929544.

Changing patterns in the epidemiology of β‐thalassemia

Antonis Kattamis, Gian Luca Forni, Yesim Aydinok, Vip Viprakasit

Eur J Haematol. 2020 Dec; 105(6): 692–703. Published online 2020 Sep 21. doi: 10.1111/ejh.13512

PMCID:: PMC7692954

Abstract Article PDF–381K

Select item 74972895.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 73276346.

Minihepcidins improve ineffective erythropoiesis and splenomegaly in a new mouse model of adult β-thalassemia major

Carla Casu, Roberta Chessa, Alison Liu, Ritama Gupta, Hal Drakesmith, Robert Fleming, Yelena Z. Ginzburg, Brian MacDonald, Stefano Rivella

Haematologica. 2020 Jul; 105(7): 1835–1844. Prepublished online 2019 Oct 9. doi: 10.3324/haematol.2018.212589

PMCID:: PMC7327634

Abstract Article PDF–2.3M

Select item 72184147.

Myelodysplastic syndrome unrelated to lentiviral vector in a patient treated with gene therapy for sickle cell disease

Matthew M. Hsieh, Melissa Bonner, Francis John Pierciey, Jr, Naoya Uchida, James Rottman, Laura Demopoulos, Manfred Schmidt, Julie Kanter, Mark C. Walters, Alexis A. Thompson, Mohammed Asmal, John F. Tisdale

Blood Adv. 2020 May 12; 4(9): 2058–2063. Published online 2020 May 12. doi: 10.1182/bloodadvances.2019001330

PMCID:: PMC7218414

Abstract Article PDF–850K

Select item 69162748.

Oral ferroportin inhibitor VIT‐2763: First‐in‐human, phase 1 study in healthy volunteers

Frank Richard, Jan Jaap van Lier, Bernard Roubert, Teba Haboubi, Udo‐Michael Göhring, Franz Dürrenberger

Am J Hematol. 2020 Jan; 95(1): 68–77. Published online 2019 Nov 19. doi: 10.1002/ajh.25670

PMCID:: PMC6916274

Abstract Article PDF–1.4M

Select item 52645459.

Combination Iron Chelation Therapy with Deferiprone and Deferasirox in Iron-Overloaded Patients with Transfusion-Dependent β-Thalassemia Major

Hossein Karami, Mehrnoush Kosaryan, Arash Hadian Amree, Hadi Darvishi-Khezri, Masoomeh Mousavi

Clin Pract. 2017 Jan 11; 7(1): 912. Published online 2017 Jan 12. doi: 10.4081/cp.2017.912

PMCID:: PMC5264545

Abstract Article PDF–147K

Select item 495768910.

Hematopoietic Stem Cell Transplantation for Homozygous β Thalassemia and β Thalassemia/Hemoglobin E Patients from Haploidentical Donors

U Anurathapan, S Hongeng, S Pakakasama, N Sirachainan, D Songdej, A Chuansumrit, P Charoenkwan, A Jetsrisuparb, K Sanpakit, P Rujkijyanont, A Meekaewkunchorn, Y Lektrakul, P Iamsirirak, P Surapolchai, W Satayasai, S Sirireung, R Sruamsiri, PA Wahidiyat, A Ungkanont, S Issaragrisil, BS Andersson

Bone Marrow Transplant. Author manuscript; available in PMC 2016 Jul 22.

Published in final edited form as: Bone Marrow Transplant. 2016 Jun; 51(6): 813–818. Published online 2016 Feb 15. doi: 10.1038/bmt.2016.7

PMCID:: PMC4957689

Abstract Article PDF–428K

Select item 494620411.

Minihepcidin peptides as disease modifiers in mice affected by β-thalassemia and polycythemia vera

Carla Casu, Paraskevi Rea Oikonomidou, Huiyong Chen, Vijay Nandi, Yelena Ginzburg, Princy Prasad, Robert E. Fleming, Yatrik M. Shah, Erika V. Valore, Elizabeta Nemeth, Tomas Ganz, Brian MacDonald, Stefano Rivella

Blood. 2016 Jul 14; 128(2): 265–276. Prepublished online 2016 May 6. doi: 10.1182/blood-2015-10-676742

PMCID:: PMC4946204

Abstract Article

Select item 487017312.

Pulmonary hypertension associated with thalassemia syndromes

Dustin R. Fraidenburg, Roberto F. Machado

Ann N Y Acad Sci. Author manuscript; available in PMC 2017 Mar 23.

Published in final edited form as: Ann N Y Acad Sci. 2016 Mar; 1368(1): 127–139. Published online 2016 Mar 23. doi: 10.1111/nyas.13037

PMCID:: PMC4870173

Abstract Article PDF–611K

Select item 454475313.

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

Abstract Article PDF–960K

Select item 449029614.

Effects of deferasirox-deferoxamine on myocardial and liver iron in patients with severe transfusional iron overload

Yesim Aydinok, Antonis Kattamis, M. Domenica Cappellini, Amal El-Beshlawy, Raffaella Origa, Mohsen Elalfy, Yurdanur Kilinç, Silverio Perrotta, Zeynep Karakas, Vip Viprakasit, Dany Habr, Niculae Constantinovici, Junwu Shen, John B. Porter

Blood. 2015 Jun 18; 125(25): 3868–3877. Prepublished online 2015 May 1. doi: 10.1182/blood-2014-07-586677

PMCID:: PMC4490296

Abstract Article

Select item 438071715.

A genetic score for the prediction of beta-thalassemia severity

Fabrice Danjou, Marcella Francavilla, Franco Anni, Stefania Satta, Franca-Rosa Demartis, Lucia Perseu, Matteo Manca, Maria Carla Sollaino, Laura Manunza, Elisabetta Mereu, Giuseppe Marceddu, Serge Pissard, Philippe Joly, Isabelle Thuret, Raffaella Origa, Joseph Borg, Gian Luca Forni, Antonio Piga, Maria Eliana Lai, Catherine Badens, Paolo Moi, Renzo Galanello

Haematologica. 2015 Apr; 100(4): 452–457. doi: 10.3324/haematol.2014.113886

PMCID:: PMC4380717

Abstract Article PDF–1.1M

Select item 413891416.

Effects of the anti-receptor activator of nuclear factor kappa B ligand denusomab on beta thalassemia major-induced osteoporosis

Mohamed A. Yassin, Ashraf T. Soliman, Vincenzo De Sanctis, Mohamed Osman Abdelrahman, Elsaid M. Aziz Bedair, Manal AbdelGawad

Indian J Endocrinol Metab. 2014 Jul-Aug; 18(4): 546–551. doi: 10.4103/2230-8210.137516

PMCID:: PMC4138914

Abstract Article PDF–559K

Select item 394585817.

A 1-year randomized controlled trial of deferasirox vs deferoxamine for myocardial iron removal in β-thalassemia major (CORDELIA)

Dudley J. Pennell, John B. Porter, Antonio Piga, Yongrong Lai, Amal El-Beshlawy, Khawla M. Belhoul, Mohsen Elalfy, Akif Yesilipek, Yurdanur Kilinç, Tomasz Lawniczek, Dany Habr, Marianne Weisskopf, Yiyun Zhang, Yesim Aydinok

Blood. 2014 Mar 6; 123(10): 1447–1454. Prepublished online 2014 Jan 2. doi: 10.1182/blood-2013-04-497842

PMCID:: PMC3945858

Abstract Article

Select item 348889318.

Minihepcidins prevent iron overload in a hepcidin-deficient mouse model of severe hemochromatosis

Emilio Ramos, Piotr Ruchala, Julia B. Goodnough, Léon Kautz, Gloria C. Preza, Elizabeta Nemeth, Tomas Ganz

Blood. 2012 Nov 1; 120(18): 3829–3836. Prepublished online 2012 Sep 18. doi: 10.1182/blood-2012-07-440743

PMCID:: PMC3488893

Abstract Article

Select item 336664819.

Deferasirox for up to 3 years leads to continued improvement of myocardial T2* in patients with β-thalassemia major

Dudley J. Pennell, John B. Porter, Maria Domenica Cappellini, Lee Lee Chan, Amal El-Beshlawy, Yesim Aydinok, Hishamshah Ibrahim, Chi-Kong Li, Vip Viprakasit, Mohsen S. Elalfy, Antonis Kattamis, Gillian Smith, Dany Habr, Gabor Domokos, Bernard Roubert, Ali Taher

Haematologica. 2012 Jun; 97(6): 842–848. doi: 10.3324/haematol.2011.049957

PMCID:: PMC3366648

Abstract Article PDF–1.3M

Select item 320653820.

T cell-depleted hla-haploidentical stem cell transplantation in thalassemia young patients

Pietro Sodani, Antonella Isgrò, Javid Gaziev, Katia Paciaroni, Marco Marziali, Maria Domenica Simone, Andrea Roveda, Gioa De Angelis, Cristiano Gallucci, Fabio Torelli, Giancarlo Isacchi, Francesco Zinno, Fabiola Landi, Gaspare Adorno, Alessandro Lanti, Manuela Testi, Marco Andreani, Guido Lucarelli

Pediatr Rep. 2011 Jun 22; 3(Suppl 2): e13. Published online 2011 Jun 22. doi: 10.4081/pr.2011.s2.e13

PMCID:: PMC3206538

Article PDF–388K

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