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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. Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7. Circulation. 2017. PMID: 28687708 Free article.
Nail-patella syndrome: report of 11 pediatric cases.
Figueroa-Silva O, Vicente A, Agudo A, Baliu-Piqué C, Gómez-Armayones S, Aldunce-Soto MJ, Inarejos Clemente EJ, Navallas Irujo M, Gutiérrez de la Iglesia D, González-Enseñat MA. Figueroa-Silva O, et al. J Eur Acad Dermatol Venereol. 2016 Sep;30(9):1614-7. doi: 10.1111/jdv.13683. Epub 2016 Apr 25. J Eur Acad Dermatol Venereol. 2016. PMID: 27109743
Familial drug reaction with eosinophilia and systemic symptoms syndrome.
Morgado-Carrasco D, Fustà-Novell X, Mascaró JM, Gonzalez-Enseñat MA, Vicente-Villa A. Morgado-Carrasco D, et al. Among authors: gonzalez ensenat ma. Indian J Dermatol Venereol Leprol. 2021 May-Jun;87(3):383-385. doi: 10.25259/IJDVL_654_18. Indian J Dermatol Venereol Leprol. 2021. PMID: 33666061 Free article. No abstract available.
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. Hum Mutat. 2013 Dec;34(12):1632-41. doi: 10.1002/humu.22431. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24038909
Unknown: a congenital nodule on the scapula.
Lacruz G, González-Enseñat MA, Suñol M, Vicente A. Lacruz G, et al. Dermatol Online J. 2012 Oct 15;18(10):12. Dermatol Online J. 2012. PMID: 23122019 Free article.
Acquired hypopigmented suprapubic macules.
Pau-Charles I, Vicente A, Jou C, González-Enseñat MA. Pau-Charles I, et al. Clin Exp Dermatol. 2014 Jul;39(5):655-7. doi: 10.1111/ced.12319. Epub 2014 Apr 23. Clin Exp Dermatol. 2014. PMID: 24758414 No abstract available.
Trichoscopy helps to predict the time point of clinical cure of tinea capitis.
Richarz NA, Barboza L, Monsonís M, González-Enseñat MA, Vicente A. Richarz NA, et al. Among authors: gonzalez ensenat ma. Australas J Dermatol. 2018 Nov;59(4):e298-e299. doi: 10.1111/ajd.12830. Epub 2018 May 16. Australas J Dermatol. 2018. PMID: 29767838 No abstract available.
Lichen striatus following scarlet fever in a 3-year-old female patient.
Richarz NA, Fustà-Novell X, Fatsini-Blanch V, Fortuny C, González-Enseñat MA, Vicente A. Richarz NA, et al. Int J Dermatol. 2018 Sep;57(9):1118-1119. doi: 10.1111/ijd.13995. Epub 2018 Apr 14. Int J Dermatol. 2018. PMID: 29655190 No abstract available.
74 results