Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases-Reference-Cited by-同舟云学术

Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

Published:2013-10-22 Issue:1 Volume:35 Page:15-26
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bento Celeste¹,Percy Melanie J.²,Gardie Betty³⁴,Maia Tabita Magalhães¹,van Wijk Richard⁵,Perrotta Silverio⁶,Della Ragione Fulvio⁷,Almeida Helena¹,Rossi Cedric⁸,Girodon François⁸,Åström Maria⁹,Neumann Drorit¹⁰,Schnittger Susanne¹¹,Landin Britta¹²,Minkov Milen¹³,Randi Maria Luigia¹⁴,Richard Stéphane⁴,Casadevall Nicole¹⁵,Vainchenker William¹⁶,Rives Susana¹⁷,Hermouet Sylvie³,Ribeiro M. Leticia¹,McMullin Mary Frances¹⁸,Cario Holger¹⁹,Chauveau Aurelie,Gimenez-Roqueplo Anne-Paule,Bressac-de-Paillerets Brigitte,Altindirek Didem,Lorenzo Felipe,Lambert Frederic,Dan Harlev,Gad-Lapiteau Sophie,Catarina Oliveira Ana,Rossi Cédric,Fraga Cristina,Taradin Gennadiy,Martin-Nuñez Guillermo,Vitória Helena,Diaz Aguado Herrera,Palmblad Jan,Vidán Julia,Relvas Luis,Ribeiro Maria Leticia,Luigi Larocca Maria,Luigia Randi Maria,Pedro Silveira Maria,Percy Melanie,Gross Mor,Marques da Costa Ricardo,Beshara Soheir,Ben-Ami Tal,Ugo Valérie,

Affiliation:

1. Department of Hematology; Centro Hospitalar e Universitário de Coimbra; Coimbra Portugal

2. Department of Haematology; Belfast City Hospital; Belfast Northern Ireland UK

3. Unité Mixte de Recherche (UMR) 892 Inserm - 6299 CNRS; Université de Nantes; Nantes France

4. Laboratoire de Génétique Oncologique de l'Ecole Pratique des Hautes Etudes (EPHE), INSERM U753; Institut de cancérologie Gustave Roussy; Villejuif France

5. Department of Clinical Chemistry and Haematology; University Medical Center Utrecht; Utrecht The Netherlands

6. Dipartimento della Donna; del Bambino e di Chirurgia Generale e Specialistica, Second University of Naples; Naples Italy

7. Department of Biochemistry; Biophysics and General Pathology, Second University of Naples; Naples Italy

8. Laboratoire d'Hématologie; Centre Hospitalier Universitaire Dijon; France

9. Departments of Medicine and Laboratory Medicine; Örebro University Hospital; Örebro Sweden

10. Department of Cell and Developmental Biology; Sackler Faculty of Medicine, Tel-Aviv University; Ramat-Aviv Israel

11. Munich Leukemia Laboratory; MLL Munich Germany

12. Department of Clinical Chemistry; Karolinska University Hospital; Stockholm Sweden

13. Department of Hematology/Oncology; St. Anna Children's Hospital, Medical University of Vienna; Vienna Austria

14. Department of Medicine DIMED; University of Padua; Padua Italy

15. Hôpital Saint Antoine, Assistance Publique-Hôpitaux de Paris and Pierre et Marie Curie University; Institut Gustave Roussy; UMR 1009 Villejuif France

16. UMR 1009 and GRex; INSERM, Université Paris-Sud, Institut Gustave Roussy; Villejuif France

17. Department of Pediatric Hematology; Hospital Sant Joan de Déu de Barcelona, University of Barcelona; Spain

18. Department of Haematology; CCRCB, Queen's University; Belfast Northern Ireland UK

19. Department of Pediatrics and Adolescent Medicine; University Medical Center Ulm; Ulm Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference105 articles.

1. Analysis of the oxygen sensing pathway genes in familial chronic myeloproliferative neoplasms and identification of a novel EGLN1 germline mutation;Albiero;Br J Haematol,2011

2. Isolated erythrocytosis: study of 67 patients and identification of three novel germ-line mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene;Albiero;Haematologica,2012

3. Endemic polycythemia in Russia: mutation in the VHL gene;Ang;Blood Cells Mol Dis,2002a

4. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia;Ang;Nat Genet,2002b

5. A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene;Al-Sheikh;Haematologica,2008

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