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Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M. Amyere M, et al. Among authors: vicente a. Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7. Circulation. 2017. PMID: 28687708 Free article.
Erythroderma in a 1-month-old boy.
Hortala M, Vicente A, Abellaneda C, Suñol M, Fernandez L, González-Enseñat MA. Hortala M, et al. Among authors: vicente a. Eur J Pediatr. 2007 Sep;166(9):979-80. doi: 10.1007/s00431-006-0335-5. Epub 2006 Nov 16. Eur J Pediatr. 2007. PMID: 17109162 No abstract available.
Picture of the month. Acquired secondary syphilis.
Ferran M, Martin-Ezquerra G, Vicente A, Noguera A, Alsina L, Gonzalez-Enseñat MA. Ferran M, et al. Among authors: vicente a. Arch Pediatr Adolesc Med. 2007 Feb;161(2):199-200. doi: 10.1001/archpedi.161.2.199. Arch Pediatr Adolesc Med. 2007. PMID: 17283307 No abstract available.
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: vicente a. Hum Mutat. 2008 Jul;29(7):959-65. doi: 10.1002/humu.20746. Hum Mutat. 2008. PMID: 18446851 Free article.
Neonatal erythroderma as a first manifestation of Menkes disease.
Galve J, Vicente A, González-Enseñat MA, Pérez-Dueñas B, Cusí V, Møller LB, Julià M, Domínguez A, Ferrando J. Galve J, et al. Among authors: vicente a. Pediatrics. 2012 Jul;130(1):e239-42. doi: 10.1542/peds.2011-1558. Epub 2012 Jun 18. Pediatrics. 2012. PMID: 22711717
Unknown: a congenital nodule on the scapula.
Lacruz G, González-Enseñat MA, Suñol M, Vicente A. Lacruz G, et al. Among authors: vicente a. Dermatol Online J. 2012 Oct 15;18(10):12. Dermatol Online J. 2012. PMID: 23122019 Free article.
1,116 results