RASA1Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation-Reference-Cited by-同舟云学术

RASA1Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Published:2013-10-10 Issue:12 Volume:34 Page:1632-1641
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Revencu Nicole¹²,Boon Laurence M.¹³,Mendola Antonella¹,Cordisco Maria Rosa⁴,Dubois Josée⁵,Clapuyt Philippe⁶,Hammer Frank⁶,Amor David J.⁷,Irvine Alan D.⁸,Baselga Eulalia⁹,Dompmartin Anne¹⁰,Syed Samira¹¹,Martin-Santiago Ana¹²,Ades Lesley¹³,Collins Felicity¹³,Smith Janine¹³,Sandaradura Sarah¹³,Barrio Victoria R.¹⁴,Burrows Patricia E.¹⁵,Blei Francine¹⁶,Cozzolino Mariarosaria¹⁷,Brunetti-Pierri Nicola¹⁷,Vicente Asuncion¹⁸,Abramowicz Marc¹⁹,Désir Julie¹⁹,Vilain Catheline¹⁹,Chung Wendy K.²⁰,Wilson Ashley²¹,Gardiner Carol A.²²,Dwight Yim²³,Lord David J.E.²⁴,Fishman Leona²⁵,Cytrynbaum Cheryl²⁵,Chamlin Sarah²⁶,Ghali Fred²⁷,Gilaberte Yolanda²⁸,Joss Shelagh²⁹,Boente Maria del C.³⁰,Léauté-Labrèze Christine³¹,Delrue Marie-Ange³²,Bayliss Susan³³,Martorell Loreto³⁴,González-Enseñat Maria-Antonia¹⁸,Mazereeuw-Hautier Juliette³⁵,O'Donnell Brid³⁶,Bessis Didier³⁷,Pyeritz Reed E.³⁸,Salhi Aicha³⁹,Tan Oon T.⁴⁰,Wargon Orli⁴¹,Mulliken John B.⁴²,Vikkula Miikka¹²

Affiliation:

1. Laboratory of Human Molecular Genetics; de Duve Institute, Université catholique de Louvain; Brussels Belgium

2. Center for Human Genetics; Cliniques universitaires St Luc; Université catholique de Louvain; Brussels Belgium

3. Vascular Anomalies Centre, Division of Plastic Surgery; Cliniques universitaires St Luc; Brussels Belgium

4. Department of Dermatology; Hospital de Pediatria Prof. Dr. J.P. Garrahan; Buenos Aires Argentina

5. Department of Medical Imaging; Sainte-Justine Mother-Child University Hospital; Montreal Canada

6. Department of Medical Imaging, Cliniques universitaires Saint-Luc; Université catholique de Louvain; Brussels Belgium

7. Victorian Clinical Genetics Services, Murdoch Childrens Research Institute; Royal Children's Hospital; Parkville Victoria 3052 Australia

8. Dermatology Clinic; Our Lady's Children's Hospital Crumlin; Dublin Ireland

9. Department of Dermatology; Hospital de la Santa Creu I Sant Pau; Barcelona Spain

10. Department of Dermatology, Université de Caen Basse Normandie; CHU Caen; Caen France

11. Department of Pediatric Dermatology; Great Ormond Street Hospital for Children; London United Kingdom

12. Department of Dermatology; Son Espases University Hospital; Palma de Mallorca Spain

13. Department of Clinical Genetics; The Children's Hospital at Westmead; Westmead Sydney, New South Wales 2145 Australia

14. Department of Pediatrics and Dermatology at the University of California at San Diego and Rady Children's Hospital; San Diego California

15. Department of Radiology; Roosevelt Hospital; New York New York

16. Vascular Birthmark Institute of New York; Roosevelt Hospital; New York New York

17. Department of Pediatrics; Federico II University of Naples; Naples Italy

18. Department of Dermatology; Hospital Sant Joan de Deu; Barcelona Spain

19. Medical Genetics Department; Hôpital Erasme, Université Libre de Bruxelles; Brussels Belgium

20. Departments of Pediatrics and Medicine; Columbia University; New York New York

21. Morgan Stanley Children's Hospital of New York; New York New York

22. Clinical Genetics Service; Nottingham University Hospital; Nottingham United Kingdom

23. Kaiser Permanente Medical Center; Honolulu Hawaii

24. Vascular Birthmarks Program; Children's Hospital at Westmead; Westmead New South Wales 2145 Australia

25. Clinical and Metabolic Genetics; The Hospital for Sick Children; Toronto Canada

26. Division of Pediatric Dermatology; Children's Memorial Hospital; Chicago Illinois

27. Pediatric Dermatology of North Texas; Grapevine Texas

28. Unit of Dermatology; Hospital San Jorge; Huesca Spain

29. West of Scotland Clinical Genetics Service; Laboratory Medicine Building, Southern General Hospital; Glasgow G51 4TF Scotland United Kingdom

30. Unit of Dermatology; Hospital del Niño Jesús; Tucumán Argentina

31. Centre de Référence Maladies rares de la peau; CHU de Bordeaux; Bordeaux France

32. Department of Medical Genetics; CHU Bordeaux; Bordeaux France

33. Pediatric Dermatology; St. Louis Children's Hospital; St. Louis Missouri

34. Genética Molecular; Hospital Sant Joan de Déu; Barcelona Spain

35. Service de Dermatologie, Centre de Référence des Maladies rares de la peau; Hôpital Larrey; Toulouse France

36. Departement of Dermatology; Children's University Hospital; Dublin 1 Ireland

37. Département de Dermatologie, Hôpital Saint-Éloi; CHRU de Montpellier; Montpellier France

38. Departments of Medicine and Genetics; Perelman School of Medicine at the University of Pennsylvania; Philadelphia Pennsylvania

39. Dermatolgie; Faculté de Médecine d'Alger; Alger Algeria

40. Massachusetts Eye and Ear Infirmary; Harvard Medical School; Boston Massachusetts

41. Department of Paediatric Dermatology; Sydney Children's Hospital: School of Women's and Children's Health University of New South Wales; Sydney New South Wales Australia

42. Department of Plastic and Oral Surgery; Children's Hospital, Harvard Medical School; Boston Massachusetts

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference36 articles.

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3. Somatic uniparental isodisomy explains multifocality of glomuvenous malformations;Amyere;Am J Hum Genet,2013

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5. Four common glomulin mutations cause two thirds of glomuvenous malformations (“familial glomangiomas”): evidence for a founder effect;Brouillard;J Med Genet,2005

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