Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation-Reference-Cited by-同舟云学术

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation

Published:2018-02-09 Issue:4 Volume:141 Page:979-988
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Vivanti Alexandre¹,Ozanne Augustin²,Grondin Cynthia¹,Saliou Guillaume³^ORCID,Quevarec Loic¹,Maurey Helène⁴,Aubourg Patrick⁴,Benachi Alexandra⁵,Gut Marta⁶⁷,Gut Ivo⁶⁷,Martinovic Jelena⁸,Sénat Marie Victoire⁹,Tawk Marcel¹⁰,Melki Judith¹

Affiliation:

1. Institut National de la Santé et de la Recherche Médicale (Inserm) UMR-1169 and University Paris Sud, Le Kremlin Bicêtre, 94276, France

2. Department of Interventional Neuroradiology, National Reference Center for Paediatric Neurovascular Malformation, Assistance publique des Hôpitaux de Paris, Hôpital Bicêtre, Le Kremlin-Bicêtre, 94276, France

3. Department of Diagnostic and Interventional Radiology, Centre Hospitalier Universitaire Vaudois, Lausanne University Hospital, Lausanne, CH-1011, Switzerland

4. Department of Paediatric Neurology, Hôpital Bicêtre, Assistance publique des Hôpitaux de Paris, Le Kremlin-Bicêtre, 94276, France

5. Department of Obstetrics and Gynecology, Hôpital Antoine-Béclère, Assistance publique des Hôpitaux de Paris, 92140, Clamart, France

6. CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, 08028, Barcelona, Spain

7. Universitat Pompeu Fabra, 08002, Barcelona, Spain

8. Unit of Fetal Pathology, Hôpital Antoine-Béclère, Assistance publique des Hôpitaux de Paris, 92140, Clamart, France

9. Department of Obstetrics and Gynecology, Hôpital Bicêtre, Assistance Publique des Hôpitaux de Paris, Le Kremlin-Bicêtre, 94276, France

10. INSERM UMR-1195, University Paris Sud, Le Kremlin-Bicêtre, 94276, France

Funder

Inserm

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/141/4/979/24497701/awy020.pdf

Reference28 articles.

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3. Vein of Galen aneurysmal malformations;Alvarez;Neuroimaging Clin N Am,2007

4. Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling;Amyere;Circulation,2017

5. Patterns of cranial venous system from the comparative anatomy in vertebrates. Part I, introduction and the dorsal venous system;Aurboonyawat;Interv Neuroradiol,2007

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