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Mutations in SETD2 cause a novel overgrowth condition.
Luscan A, Laurendeau I, Malan V, Francannet C, Odent S, Giuliano F, Lacombe D, Touraine R, Vidaud M, Pasmant E, Cormier-Daire V. Luscan A, et al. Among authors: vidaud m. J Med Genet. 2014 Aug;51(8):512-7. doi: 10.1136/jmedgenet-2014-102402. Epub 2014 May 22. J Med Genet. 2014. PMID: 24852293
SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.
Tlemsani C, Luscan A, Leulliot N, Bieth E, Afenjar A, Baujat G, Doco-Fenzy M, Goldenberg A, Lacombe D, Lambert L, Odent S, Pasche J, Sigaudy S, Buffet A, Violle-Poirsier C, Briand-Suleau A, Laurendeau I, Chin M, Saugier-Veber P, Vidaud D, Cormier-Daire V, Vidaud M, Pasmant E, Burglen L. Tlemsani C, et al. Among authors: vidaud m, vidaud d. J Med Genet. 2016 Nov;53(11):743-751. doi: 10.1136/jmedgenet-2015-103638. Epub 2016 Jun 17. J Med Genet. 2016. PMID: 27317772
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.
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
294 results