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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. Among authors: vidaud m, vidaud d. 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. Among authors: vidaud m, vidaud d. 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.
Detection and characterization of NF1 microdeletions by custom high resolution array CGH.
Pasmant E, Sabbagh A, Masliah-Planchon J, Haddad V, Hamel MJ, Laurendeau I, Soulier J, Parfait B, Wolkenstein P, Bièche I, Vidaud M, Vidaud D. Pasmant E, et al. Among authors: vidaud m, vidaud d. J Mol Diagn. 2009 Nov;11(6):524-9. doi: 10.2353/jmoldx.2009.090064. Epub 2009 Sep 18. J Mol Diagn. 2009. PMID: 19767589 Free PMC article.
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. Among authors: vidaud m, vidaud d. Hum Mutat. 2010 Jun;31(6):E1506-18. doi: 10.1002/humu.21271. Hum Mutat. 2010. PMID: 20513137 Free article.
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.
Pasmant E, Goussard P, Baranes L, Laurendeau I, Quentin S, Ponsot P, Consigny Y, Farges O, Condat B, Vidaud D, Vidaud M, Chen JM, Parfait B. Pasmant E, et al. Among authors: vidaud m, vidaud d. Eur J Hum Genet. 2012 Mar;20(3):277-82. doi: 10.1038/ejhg.2011.186. Epub 2011 Oct 12. Eur J Hum Genet. 2012. PMID: 21989363 Free PMC article.
Neurofibromatosis type 1: from genotype to phenotype.
Pasmant E, Vidaud M, Vidaud D, Wolkenstein P. Pasmant E, et al. Among authors: vidaud m, vidaud d. J Med Genet. 2012 Aug;49(8):483-9. doi: 10.1136/jmedgenet-2012-100978. J Med Genet. 2012. PMID: 22889851 Review.
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
Pasmant E, Parfait B, Luscan A, Goussard P, Briand-Suleau A, Laurendeau I, Fouveaut C, Leroy C, Montadert A, Wolkenstein P, Vidaud M, Vidaud D. Pasmant E, et al. Among authors: vidaud m, vidaud d. Eur J Hum Genet. 2015 May;23(5):596-601. doi: 10.1038/ejhg.2014.145. Epub 2014 Jul 30. Eur J Hum Genet. 2015. PMID: 25074460 Free PMC article.
294 results