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Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.
Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M. Revencu N, et al. Among authors: burrows pe. Hum Mutat. 2008 Jul;29(7):959-65. doi: 10.1002/humu.20746. Hum Mutat. 2008. PMID: 18446851 Free article.
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O'Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M. Revencu N, et al. Among authors: burrows pe. Hum Mutat. 2013 Dec;34(12):1632-41. doi: 10.1002/humu.22431. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24038909
Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies.
Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, Burrows P, Frieden IJ, Garzon MC, Lopez-Gutierrez JC, Lord DJ, Mitchel S, Powell J, Prendiville J, Vikkula M; ISSVA Board and Scientific Committee. Wassef M, et al. Pediatrics. 2015 Jul;136(1):e203-14. doi: 10.1542/peds.2014-3673. Epub 2015 Jun 8. Pediatrics. 2015. PMID: 26055853 Review.
A novel association between RASA1 mutations and spinal arteriovenous anomalies.
Thiex R, Mulliken JB, Revencu N, Boon LM, Burrows PE, Cordisco M, Dwight Y, Smith ER, Vikkula M, Orbach DB. Thiex R, et al. Among authors: burrows pe. AJNR Am J Neuroradiol. 2010 Apr;31(4):775-9. doi: 10.3174/ajnr.A1907. Epub 2009 Dec 10. AJNR Am J Neuroradiol. 2010. PMID: 20007727 Free PMC article.
Prenatal diagnosis of vascular anomalies.
Marler JJ, Fishman SJ, Upton J, Burrows PE, Paltiel HJ, Jennings RW, Mulliken JB. Marler JJ, et al. Among authors: burrows pe. J Pediatr Surg. 2002 Mar;37(3):318-26. doi: 10.1053/jpsu.2002.30831. J Pediatr Surg. 2002. PMID: 11877641
Soft-tissue vascular anomalies: utility of US for diagnosis.
Paltiel HJ, Burrows PE, Kozakewich HP, Zurakowski D, Mulliken JB. Paltiel HJ, et al. Among authors: burrows pe. Radiology. 2000 Mar;214(3):747-54. doi: 10.1148/radiology.214.3.r00mr21747. Radiology. 2000. PMID: 10715041
Vascular anomalies.
Mulliken JB, Fishman SJ, Burrows PE. Mulliken JB, et al. Among authors: burrows pe. Curr Probl Surg. 2000 Aug;37(8):517-84. doi: 10.1016/s0011-3840(00)80013-1. Curr Probl Surg. 2000. PMID: 10955029 Review. No abstract available.
Pediatric hepatic vascular anomalies.
Burrows PE, Dubois J, Kassarjian A. Burrows PE, et al. Pediatr Radiol. 2001 Aug;31(8):533-45. doi: 10.1007/PL00006641. Pediatr Radiol. 2001. PMID: 11550763 Review.
232 results