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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: frieden i. Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7. Circulation. 2017. PMID: 28687708 Free article.
Residual lesions after Kasabach-Merritt phenomenon in 41 patients.
Enjolras O, Mulliken JB, Wassef M, Frieden IJ, Rieu PN, Burrows PE, Salhi A, Léauté-Labreze C, Kozakewich HP. Enjolras O, et al. Among authors: frieden ij. J Am Acad Dermatol. 2000 Feb;42(2 Pt 1):225-35. doi: 10.1016/s0190-9622(00)90130-0. J Am Acad Dermatol. 2000. PMID: 10642677
The many faces of PHACE syndrome.
Metry DW, Dowd CF, Barkovich AJ, Frieden IJ. Metry DW, et al. Among authors: frieden ij. J Pediatr. 2001 Jul;139(1):117-23. doi: 10.1067/mpd.2001.114880. J Pediatr. 2001. PMID: 11445804 Review.
Congenital, self-regressing tufted angioma.
Browning J, Frieden I, Baselga E, Wagner A, Metry D. Browning J, et al. Among authors: frieden i. Arch Dermatol. 2006 Jun;142(6):749-51. doi: 10.1001/archderm.142.6.749. Arch Dermatol. 2006. PMID: 16785378
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: frieden ij. Hum Mutat. 2008 Jul;29(7):959-65. doi: 10.1002/humu.20746. Hum Mutat. 2008. PMID: 18446851 Free article.
359 results