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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.
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. 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
Medial fronto-facial capillary malformations.
Sillard L, Léauté-Labreze C, Mazereeuw-Hautier J, Viseux V, Barbarot S, Vabres P, Bessis D, Martin L, Lorette G, Berthier F, Lacour JP. Sillard L, et al. J Pediatr. 2011 May;158(5):836-41. doi: 10.1016/j.jpeds.2010.11.001. Epub 2010 Dec 16. J Pediatr. 2011. PMID: 21167498
IFAG and childhood rosacea: a possible link?
Prey S, Ezzedine K, Mazereeuw-Hautier J, Eschard C, Barbarot S, Boralevi F, Taïeb A, Léaute-Labrèze C; Groupe de Recherche Clinique en Dermatologie Pédiatrique. Prey S, et al. Pediatr Dermatol. 2013 Jul-Aug;30(4):429-32. doi: 10.1111/pde.12137. Epub 2013 Apr 8. Pediatr Dermatol. 2013. PMID: 23560522
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
A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain.
Dutkiewicz AS, Ezzedine K, Mazereeuw-Hautier J, Lacour JP, Barbarot S, Vabres P, Miquel J, Balguerie X, Martin L, Boralevi F, Bessou P, Chateil JF, Léauté-Labrèze C; Groupe de Recherche Clinique en Dermatologie Pédiatrique. Dutkiewicz AS, et al. J Am Acad Dermatol. 2015 Mar;72(3):473-80. doi: 10.1016/j.jaad.2014.11.009. Epub 2015 Jan 13. J Am Acad Dermatol. 2015. PMID: 25592619
Treatment of infantile haemangiomas: recommendations of a European expert group.
Hoeger PH, Harper JI, Baselga E, Bonnet D, Boon LM, Ciofi Degli Atti M, El Hachem M, Oranje AP, Rubin AT, Weibel L, Léauté-Labrèze C. Hoeger PH, et al. Eur J Pediatr. 2015 Jul;174(7):855-65. doi: 10.1007/s00431-015-2570-0. Epub 2015 May 29. Eur J Pediatr. 2015. PMID: 26021855 Review.
KLICK syndrome: recognizable phenotype and hot-spot POMP mutation.
Morice-Picard F, Jonca N, Pichery M, Mermin D, Leauté-Labrèze C, Taïeb A, Mazereeuw-Hautier J, Boralevi F. Morice-Picard F, et al. J Eur Acad Dermatol Venereol. 2017 Mar;31(3):e154-e156. doi: 10.1111/jdv.13898. Epub 2016 Aug 26. J Eur Acad Dermatol Venereol. 2017. PMID: 27503413 No abstract available.
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M. Soblet J, et al. J Invest Dermatol. 2017 Jan;137(1):207-216. doi: 10.1016/j.jid.2016.07.034. Epub 2016 Aug 9. J Invest Dermatol. 2017. PMID: 27519652 Free article.
154 results