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Page 1
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB. Kuentz P, et al. Among authors: vabres p. Genet Med. 2017 Sep;19(9):989-997. doi: 10.1038/gim.2016.220. Epub 2017 Feb 2. Genet Med. 2017. PMID: 28151489 Free article.
The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq.
Vabres P, Lacombe D, Rabinowitz LG, Aubert G, Anderson CE, Taieb A, Bonafé JL, Hors-Cayla MC. Vabres P, et al. J Invest Dermatol. 1995 Jul;105(1):87-91. doi: 10.1111/1523-1747.ep12313359. J Invest Dermatol. 1995. PMID: 7615983 Free article.
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Lévy N. Navarro CL, et al. Among authors: vabres p. Hum Mol Genet. 2004 Oct 15;13(20):2493-503. doi: 10.1093/hmg/ddh265. Epub 2004 Aug 18. Hum Mol Genet. 2004. PMID: 15317753
[Congenital melanotic macules of the tongue].
Marque M, Vabres P, Prigent F, Guillot B, Bessis D. Marque M, et al. Among authors: vabres p. Ann Dermatol Venereol. 2008 Aug-Sep;135(8-9):567-70. doi: 10.1016/j.annder.2008.07.012. Epub 2008 Aug 15. Ann Dermatol Venereol. 2008. PMID: 18789290 French.
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
Propranolol for treatment of ulcerated infantile hemangiomas.
Saint-Jean M, Léauté-Labrèze C, Mazereeuw-Hautier J, Bodak N, Hamel-Teillac D, Kupfer-Bessaguet I, Lacour JP, Naouri M, Vabres P, Hadj-Rabia S, Nguyen JM, Stalder JF, Barbarot S; Groupe de Recherche Clinique en Dermatologie Pédiatrique. Saint-Jean M, et al. Among authors: vabres p. J Am Acad Dermatol. 2011 May;64(5):827-32. doi: 10.1016/j.jaad.2010.12.040. Epub 2011 Feb 25. J Am Acad Dermatol. 2011. PMID: 21353332
251 results