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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: metry d. Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7. Circulation. 2017. PMID: 28687708 Free article.
The many faces of PHACE syndrome.
Metry DW, Dowd CF, Barkovich AJ, Frieden IJ. Metry DW, et al. J Pediatr. 2001 Jul;139(1):117-23. doi: 10.1067/mpd.2001.114880. J Pediatr. 2001. PMID: 11445804 Review.
Prospective study of the frequency of hepatic hemangiomas in infants with multiple cutaneous infantile hemangiomas.
Horii KA, Drolet BA, Frieden IJ, Baselga E, Chamlin SL, Haggstrom AN, Holland KE, Mancini AJ, McCuaig CC, Metry DW, Morel KD, Newell BD, Nopper AJ, Powell J, Garzon MC; Hemangioma Investigator Group. Horii KA, et al. Among authors: metry dw. Pediatr Dermatol. 2011 May-Jun;28(3):245-53. doi: 10.1111/j.1525-1470.2011.01420.x. Epub 2011 Apr 26. Pediatr Dermatol. 2011. PMID: 21517952
Copy number variation analysis in 98 individuals with PHACE syndrome.
Siegel DH, Shieh JTC, Kwon EK, Baselga E, Blei F, Cordisco M, Dobyns WB, Duffy KJ, Garzon MC, Gibbs DL, Grimmer JF, Hayflick SJ, Krol AL, Kwok PY, Lorier R, Matter A, McWeeney S, Metry D, Mitchell S, Pope E, Santoro JL, Stevenson DA, Bayrak-Toydemir P, Wilmot B, Worthey EA, Frieden IJ, Drolet BA, Broeckel U. Siegel DH, et al. Among authors: metry d. J Invest Dermatol. 2013 Mar;133(3):677-684. doi: 10.1038/jid.2012.367. Epub 2012 Oct 25. J Invest Dermatol. 2013. PMID: 23096700 Free PMC article.
130 results