A 20‐year long term experience of the Italian Diamond‐Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?-Reference-Cited by-同舟云学术

A 20‐year long term experience of the Italian Diamond‐Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?

Published:2020-02-21 Issue:1 Volume:190 Page:93-104
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Quarello Paola¹^ORCID,Garelli Emanuela²,Carando Adriana²,Cillario Rebecca²,Brusco Alfredo³⁴^ORCID,Giorgio Elisa³,Ferrante Daniela⁵,Corti Paola⁶,Zecca Marco⁷^ORCID,Luciani Matteo⁸,Pierri Filomena⁹,Putti Maria C.¹⁰,Cantarini Maria E.¹¹,Farruggia Piero¹²^ORCID,Barone Angelica¹³,Cesaro Simone¹⁴,Russo Giovanna¹⁵^ORCID,Fagioli Franca¹²,Dianzani Irma¹⁶,Ramenghi Ugo²,

Affiliation:

1. Paediatric Onco‐Haematology Stem Cell Transplantation and Cellular Therapy Division Regina Margherita Children's Hospital Turin Italy

2. Department of Public Health and Paediatric Sciences University of Torino Turin Italy

3. Department of Medical Sciences University of Torino Turin Italy

4. Medical Genetics Unit “Città della Salute e della Scienza” Hospital Turin Italy

5. Department of Translational Medicine Unit of Cancer Epidemiology CPO‐Piemonte University of Eastern Piedmont Novara Italy

6. Paediatric Haematology Fondazione MBBM Monza Italy

7. Department of Paediatric Haematology/Oncology Fondazione IRCCS Policlinico San Matteo Pavia Italy

8. Haemostasis and Thrombosis Center Onco‐Haematology Department Bambino Gesù Paediatric Hospital Rome Italy

9. Clinical and Experimental Unit G. Gaslini Children's Hospital Genoa Italy

10. Department of Women’s and Children’s Health Paediatric Haematology‐Oncology Unit University of Padova Padua Italy

11. Paediatric Oncology and Haematology U.O. Pediatria Department of Women’s and Children’s Health Policlinico Azienda Ospedaliera Universitaria Sant’Orsola Malpighi Bologna Italy

12. Paediatric Haematology and Oncology Unit A.R.N.A. S. Ospedale Civico Palermo Italy

13. Department of Paediatric Onco‐Haematology University Hospital Parma Italy

14. Paediatric Haematology Oncology Ospedale Donna Bambino Azienda Ospedaliera Universitaria Integrata Verona Italy

15. Paediatric Haematology and Oncology Unit Azienda Policlinico‐Vittorio Emanuele University of Catania Catania Italy

16. Department of Health Sciences University of Eastern Piedmont Novara Italy

Funder

Diamond Blackfan Anemia Foundation

Fondazione Telethon

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.16508

Reference29 articles.

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2. A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia

3. Diamond‐Blackfan anaemia in the U.K.: analysis of 80 cases from a 20‐year birth cohort

4. The ribosomal basis of diamond-blackfan anemia: mutation and database update

5. Molecular basis of Diamond‐Blackfan anemia: new findings from the Italian registry and a review of the literature;Campagnoli M.F.;Haematologica,2004

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