Spectrum of the Mutations in Bernard-Soulier Syndrome

Author:

Savoia Anna12,Kunishima Shinji3,De Rocco Daniela2,Zieger Barbara4,Rand Margaret L.5,Pujol-Moix Nuria6,Caliskan Umran7,Tokgoz Huseyin7,Pecci Alessandro8,Noris Patrizia8,Srivastava Alok9,Ward Christopher10,Morel-Kopp Marie-Christine10,Alessi Marie-Christine11,Bellucci Sylvia12,Beurrier Philippe13,de Maistre Emmanuel14,Favier Rémi15,Hézard Nathalie16,Hurtaud-Roux Marie-Françoise17,Latger-Cannard Véronique18,Lavenu-Bombled Cécile19,Proulle Valérie19,Meunier Sandrine20,Négrier Claude21,Nurden Alan22,Randrianaivo Hanitra23,Fabris Fabrizio24,Platokouki Helen25,Rosenberg Nurit26,HadjKacem Basma27,Heller Paula G.28,Karimi Mehran29,Balduini Carlo L.8,Pastore Annalisa30,Lanza Francois31

Affiliation:

1. Institute for Maternal and Child Health - IRCCS “Burlo Garofolo”; Trieste Italy

2. Department of Medical Sciences; University of Trieste; Trieste Italy

3. Department of Advanced Diagnosis; Clinical Research Center, National Hospital Organization Nagoya Medical Center; Nagoya Japan

4. Department of Pediatrics and Adolescent Medicine; University Medical Center of Freiburg; Freiburg Germany

5. Division of Haematology/Oncology; Department of Paediatrics, Hospital for Sick Children; Toronto Canada

6. Department of Medicine; Autonomous University of Barcelona and Sant Pau Research Institute; Barcelona Spain

7. Necmettin Erbakan University; Meram Faculty of Medicine; Meram-Konya Turkey

8. IRCCS Policlinico San Matteo Foundation - University of Pavia; Pavia Italy

9. Department of Haematology; Christian Medical College; Vellore India

10. Northern Blood Research Centre; Kolling Institute of Medical Research, University of Sydney and Dept. of Hematology and Transfusion Medicine, Royal North Shore Hospital; Saint Leonards Australia

11. Laboratoire d’Hématologie; INSERM UMR 1062, Faculté de Médecine, Université Aix Marseille; Marseille France

12. Service d’Hématologie biologique; AP-HP, Hôpital Lariboisière; Paris France

13. Centre de Traitement de l’Hémophilie; Centre Hospitalier Universitaire d’Angers; Angers France

14. CHU de Dijon; CRTH et Centre des coagulopathies, Hôpital du Bocage; Dijon France

15. Assistance Publique- Hôpitaux de Paris; Service d’Hématologie Biologique, Hôpital d'enfants A Trousseau, Paris; InsermU1009; Villejuif France

16. CHU Reims, Hôpital Robert Debré; Laboratoire d’Hématologie; Reims France

17. Service d’Hématologie Biologique; Hôpital Robert Debré; Paris France

18. Service d’Hématologie Biologique; CHU, Nancy, and Centre de Compétence des Pathologies Plaquettaires Nord-Est; France

19. Service d’Hématologie Biologique; CRPP, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Université Paris-Sud; Le Kremlin Bicêtre France

20. Unité d’Hémostase Clinique; CHU de Lyon; Lyon France

21. Unité d’Hémostase Clinique; Hôpital Edouard Herriot; Lyon France

22. Institut de Rythmologie et Modélisation Cardiaque (LIRYC); Plateforme Technologique et d’Innovation Biomédicale; Hôpital Xavier Arnozan; Pessac France

23. Medical Genetic Unit, Pôle Femme-Mère-Enfant; Centre Hospitalier Universitaire, Saint-Pierre; La Réunion France

24. Department of Medicine-DIMED; University of Padova; Padua Italy

25. Haemophilia Centre/Haemostasis Unit “Aghia Sophia”; Children's Hospital; Athens Greece

26. Amalia Biron Research Institute of Thrombosis and Hemostasis; Sheba Medical Center; Israel

27. Centre de Biotechnologie de Sfax; Sfax University; Sfax Tunisia

28. Hematología Investigación, Instituto de Investigaciones Médicas A. Lanari, Universidad de Buenos Aires. CONICET; Buenos Aires Argentina

29. Hematology Research Center; Shiraz University of Medical Sciences; Shiraz Iran

30. King's College London, Dept. of Clinical Neuroscience; Denmark Hill Campus; London

31. INSERM UMR S_949, Strasbourg, France; EFS-Alsace, Strasbourg, France; Université de Strasbourg, Strasbourg; France; Centre de Compétence des Pathologies Plaquettaires Nord-Est; France

Funder

Etablissement Fran�ais du Sang (EFS)

GIS Maladies Rares - INSERM

IRCCS Burlo Garofolo

Publisher

Wiley

Subject

Genetics(clinical),Genetics

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3