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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Besnard T, Sloboda N, Goldenberg A, Küry S, Cogné B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn AC, Carmignac V, Datta AN, Delignières A, Faivre L, Gardie B, Guéant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamazière A, Bézieau S, Feillet F, Isidor B. Besnard T, et al. Among authors: barbarot s. Genet Med. 2019 Sep;21(9):2025-2035. doi: 10.1038/s41436-019-0445-x. Epub 2019 Feb 6. Genet Med. 2019. PMID: 30723320 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: barbarot s. 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: barbarot s. 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
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.
Mercier S, Küry S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bézieau S, Mayosi BM. Mercier S, et al. Among authors: barbarot s. Am J Hum Genet. 2013 Dec 5;93(6):1100-7. doi: 10.1016/j.ajhg.2013.10.013. Epub 2013 Nov 21. Am J Hum Genet. 2013. PMID: 24268661 Free PMC article.
Burden of inherited ichthyosis: a French national survey.
Dreyfus I, Pauwels C, Bourrat E, Bursztejn AC, Maruani A, Chiaverini C, Maza A, Mallet S, Bessis D, Barbarot S, Ezzedine K, Vabres P, Mazereeuw-Hautier J. Dreyfus I, et al. Among authors: barbarot s. Acta Derm Venereol. 2015 Mar;95(3):326-8. doi: 10.2340/00015555-1955. Acta Derm Venereol. 2015. PMID: 25510955 Free article.
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. Among authors: barbarot s. 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
Methotrexate in Severe Childhood Alopecia Areata: Long-term Follow-up.
Lucas P, Bodemer C, Barbarot S, Vabres P, Royer M, Mazereeuw-Hautier J. Lucas P, et al. Among authors: barbarot s. Acta Derm Venereol. 2016 Jan;96(1):102-3. doi: 10.2340/00015555-2173. Acta Derm Venereol. 2016. PMID: 26073285 Free article. No abstract available.
314 results