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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: vabres p. Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7. Circulation. 2017. PMID: 28687708 Free article.
Segmental and nonsegmental childhood vitiligo has distinct clinical characteristics: a prospective observational study.
Mazereeuw-Hautier J, Bezio S, Mahe E, Bodemer C, Eschard C, Viseux V, Labreze C, Plantin P, Barbarot S, Vabres P, Martin L, Paul C, Lacour JP; Groupe de Recherche Clinique en Dermatologie Pédiatrique (GRCDP). Mazereeuw-Hautier J, et al. Among authors: vabres p. J Am Acad Dermatol. 2010 Jun;62(6):945-9. doi: 10.1016/j.jaad.2009.06.081. J Am Acad Dermatol. 2010. PMID: 20466172
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. Among authors: vabres p. 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
Genotypes and phenotypes of 162 families with a glomulin mutation.
Brouillard P, Boon LM, Revencu N, Berg J, Dompmartin A, Dubois J, Garzon M, Holden S, Kangesu L, Labrèze C, Lynch SA, McKeown C, Meskauskas R, Quere I, Syed S, Vabres P, Wassef M, Mulliken JB, Vikkula M; GVM Study Group. Brouillard P, et al. Among authors: vabres p. Mol Syndromol. 2013 Apr;4(4):157-64. doi: 10.1159/000348675. Epub 2013 Mar 26. Mol Syndromol. 2013. PMID: 23801931 Free PMC article.
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C. Piard J, et al. Among authors: vabres p. Clin Genet. 2015 Mar;87(3):244-51. doi: 10.1111/cge.12361. Epub 2014 Mar 26. Clin Genet. 2015. PMID: 24635570
Next-generation sequencing of nevus spilus-type congenital melanocytic nevus: exquisite genotype-phenotype correlation in mosaic RASopathies.
Kinsler VA, Krengel S, Riviere JB, Waelchli R, Chapusot C, Al-Olabi L, Faivre L, Haenssle HA, Weibel L, Jeudy G, Vabres P. Kinsler VA, et al. Among authors: vabres p. J Invest Dermatol. 2014 Oct;134(10):2658-2660. doi: 10.1038/jid.2014.195. Epub 2014 Apr 21. J Invest Dermatol. 2014. PMID: 24751729 Free PMC article. No abstract available.
248 results