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Page 1
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
Pacot L, Sabbagh A, Sohier P, Hadjadj D, Ye M, Boland-Auge A, Bacq-Daian D, Laurendeau I, Briand-Suleau A, Deleuze JF, Margueron R, Vidaud M, Ferkal S, Parfait B, Vidaud D; NF-France Network; Pasmant E, Wolkenstein P. Pacot L, et al. Br J Dermatol. 2024 Jan 23;190(2):226-243. doi: 10.1093/bjd/ljad390. Br J Dermatol. 2024. PMID: 37831592
At-risk phenotype of neurofibromatose-1 patients: a multicentre case-control study.
Sbidian E, Bastuji-Garin S, Valeyrie-Allanore L, Ferkal S, Lefaucheur JP, Drouet A, Brugière P, Vialette C, Combemale P, Barbarot S, Wolkenstein P; NF France Network. Sbidian E, et al. Orphanet J Rare Dis. 2011 Jul 13;6:51. doi: 10.1186/1750-1172-6-51. Orphanet J Rare Dis. 2011. PMID: 21752287 Free PMC article.
NF1 single and multi-exons copy number variations in neurofibromatosis type 1.
Imbard A, Pasmant E, Sabbagh A, Luscan A, Soares M, Goussard P, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanne-Chantelot C, Vidaud D, Wolkenstein P; members of the NF France Network; Parfait B. Imbard A, et al. J Hum Genet. 2015 Apr;60(4):221-4. doi: 10.1038/jhg.2015.6. Epub 2015 Jan 29. J Hum Genet. 2015. PMID: 25631097
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.
NF-1Score: a prediction score for internal neurofibromas in neurofibromatosis-1.
Sbidian E, Wolkenstein P, Valeyrie-Allanore L, Rodriguez D, Hadj-Rabia S, Ferkal S, Lacour JP, Leonard JC, Taillandier L, Sportich S, Berbis P, Bastuji-Garin S; Members of NF France Network. Sbidian E, et al. J Invest Dermatol. 2010 Sep;130(9):2173-8. doi: 10.1038/jid.2010.100. Epub 2010 Apr 29. J Invest Dermatol. 2010. PMID: 20428190 Free article. Clinical Trial.
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.
Pasmant E, Sabbagh A, Spurlock G, Laurendeau I, Grillo E, Hamel MJ, Martin L, Barbarot S, Leheup B, Rodriguez D, Lacombe D, Dollfus H, Pasquier L, Isidor B, Ferkal S, Soulier J, Sanson M, Dieux-Coeslier A, Bièche I, Parfait B, Vidaud M, Wolkenstein P, Upadhyaya M, Vidaud D; members of the NF France Network. Pasmant E, et al. Hum Mutat. 2010 Jun;31(6):E1506-18. doi: 10.1002/humu.21271. Hum Mutat. 2010. PMID: 20513137 Free article.
Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.
Pasmant E, Sabbagh A, Masliah-Planchon J, Ortonne N, Laurendeau I, Melin L, Ferkal S, Hernandez L, Leroy K, Valeyrie-Allanore L, Parfait B, Vidaud D, Bièche I, Lantieri L, Wolkenstein P, Vidaud M; NF France Network. Pasmant E, et al. J Natl Cancer Inst. 2011 Nov 16;103(22):1713-22. doi: 10.1093/jnci/djr416. Epub 2011 Oct 27. J Natl Cancer Inst. 2011. PMID: 22034633
Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort.
Blanchard G, Lafforgue MP, Lion-François L, Kemlin I, Rodriguez D, Castelnau P, Carneiro M, Meyer P, Rivier F, Barbarot S, Chaix Y; NF France network. Blanchard G, et al. Eur J Paediatr Neurol. 2016 Mar;20(2):275-281. doi: 10.1016/j.ejpn.2015.12.002. Epub 2015 Dec 17. Eur J Paediatr Neurol. 2016. PMID: 26774135 Free article.
12 results