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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: balguerie x. 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.
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: balguerie x. 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
Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients.
Chasseuil E, McGrath JA, Seo A, Balguerie X, Bodak N, Chasseuil H, Denis-Musquer M, Goldenberg A, Goussot R, Irvine AD, Khumalo NP, King MC, Küry S, Lipsker D, Mallet S, Mayosi BM, Nanda A, Puzenat E, Salort-Campana E, Sidbury R, Shimamura A, Bézieau S, Mercier S, Barbarot S. Chasseuil E, et al. Among authors: balguerie x. Br J Dermatol. 2019 Oct;181(4):862-864. doi: 10.1111/bjd.17996. Epub 2019 Apr 10. Br J Dermatol. 2019. PMID: 30972747 No abstract available.
Tongue psoriasis: Clinical aspects and analysis of epidemiological associations in 313 children, with a systematic literature review.
Pourchot D, Chiaverini C, Bourrat E, Barbarot S, Vabres P, Hubiche T, Droicourt C, Piram M, Kupfer-Bessaguet I, Ferneiny M, Puzenat E, Balguérie X, Beauchet A, Bursztejn AC, Mahé E; Groupe de recherche de la Société française de dermatologie pédiatrique. Pourchot D, et al. Among authors: balguerie x. Ann Dermatol Venereol. 2018 Oct;145(10):578-586. doi: 10.1016/j.annder.2018.04.003. Ann Dermatol Venereol. 2018. PMID: 29773283
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.
Sabbagh A, Pasmant E, Laurendeau I, Parfait B, Barbarot S, Guillot B, Combemale P, Ferkal S, Vidaud M, Aubourg P, Vidaud D, Wolkenstein P; members of the NF France Network. Sabbagh A, et al. Hum Mol Genet. 2009 Aug 1;18(15):2768-78. doi: 10.1093/hmg/ddp212. Epub 2009 May 5. Hum Mol Genet. 2009. PMID: 19417008 Free PMC article.
Quality of life of children with capillary malformations of the lower limbs: Evolution and associated factors. Data from the French national paediatric cohort, CONAPE.
Robert J, Marchand A, Mazereeuw-Hautier J, Boccara O, Martin L, Chiaverini C, Beneton N, Vabres P, Balguerie X, Plantin P, Bessis D, Barbarot S, Dadban A, Droitcourt C, Samimi M, Morel B, Caille A, Maruani A, Leducq S; Groupe de Recherche de la Société Française de Dermatologie Pédiatrique. Robert J, et al. Among authors: balguerie x. Ann Dermatol Venereol. 2022 Dec;149(4):271-275. doi: 10.1016/j.annder.2022.03.010. Epub 2022 Jul 6. Ann Dermatol Venereol. 2022. PMID: 35810006 No abstract available.
Switching biologics in children with psoriasis: Results from the BiPe cohort.
Phan C, Beauchet A, Reguiai Z, Severino-Freire M, Mazereeuw-Hautier J, Bursztejn AC, Barbarot S, Hadj-Rabia S, Girard C, Phan A, Lacour JP, Lasek A, Abasq C, Brenaut E, Perrussel M, Droitcourt C, Mallet S, Piram M, Fougerousse AC, Barthélémy H, Balguérie X, Mahé E; Groupe de Recherche de la Société Française de Dermatologie Pédiatrique, the Groupe de Recherche sur le Psoriasis de la Société Française de Dermatologie. Phan C, et al. Among authors: balguerie x. Pediatr Dermatol. 2022 Jan;39(1):35-41. doi: 10.1111/pde.14845. Epub 2021 Dec 9. Pediatr Dermatol. 2022. PMID: 34888920
Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE.
Maruani A, Durieux-Verde M, Mazereeuw-Hautier J, Boccara O, Martin L, Chiaverini C, Eschard C, Bénéton N, Vabres P, Balguerie X, Plantin P, Bessis D, Barbarot S, Dadban A, Droitcourt C, Berthelot A, Lorette G, Leducq S, Samimi M, Andres C, Caille A, Vourc'h P; Groupe de Recherche de la Société Française de Dermatologie. Maruani A, et al. Among authors: balguerie x. Acta Derm Venereol. 2018 Feb 7;98(2):251-255. doi: 10.2340/00015555-2835. Acta Derm Venereol. 2018. PMID: 29110021 Free article.
Clinical and haemodynamic risk factors associated with discrepancies in lower limb length with capillary malformations: data from the national paediatric French cohort CONAPE.
Samimi M, Durieux-Verde M, Caille A, Mazereeuw-Hautier J, Boccara O, Martin L, Chiaverini C, Eschard C, Beneton N, Vabres P, Balguerie X, Plantin P, Bessis D, Barbarot S, Dadban A, Droitcourt C, Leducq S, Lorette G, Morel B, Maruani A; Groupe de Recherche de la Société Française de Dermatologie Pédiatrique. Samimi M, et al. Among authors: balguerie x. Br J Dermatol. 2018 Feb;178(2):520-526. doi: 10.1111/bjd.16017. Epub 2018 Jan 20. Br J Dermatol. 2018. PMID: 28963775
46 results