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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.
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.
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
NF1 mutations identify molecular and clinical subtypes of lung adenocarcinomas.
Tlemsani C, Pécuchet N, Gruber A, Laurendeau I, Danel C, Riquet M, Le Pimpec-Barthes F, Fabre E, Mansuet-Lupo A, Damotte D, Alifano M, Luscan A, Rousseau B, Vidaud D, Varin J, Parfait B, Bieche I, Leroy K, Laurent-Puig P, Terris B, Blons H, Vidaud M, Pasmant E. Tlemsani C, et al. Among authors: vidaud m, vidaud d. Cancer Med. 2019 Aug;8(9):4330-4337. doi: 10.1002/cam4.2175. Epub 2019 Jun 14. Cancer Med. 2019. PMID: 31199580 Free PMC article.
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
Pacot L, Pelletier V, Chansavang A, Briand-Suleau A, Burin des Roziers C, Coustier A, Maillard T, Vaucouleur N, Orhant L, Barbance C, Lermine A, Hamzaoui N, Hadjadj D, Laurendeau I, El Khattabi L, Nectoux J, Vidaud M, Parfait B, Dollfus H, Pasmant E, Vidaud D. Pacot L, et al. Among authors: vidaud m. Hum Genet. 2023 Jan;142(1):1-9. doi: 10.1007/s00439-022-02476-3. Epub 2022 Aug 9. Hum Genet. 2023. PMID: 35941319
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN. Pasmant E, et al. Among authors: vidaud m, vidaud d. J Med Genet. 2009 Jul;46(7):425-30. doi: 10.1136/jmg.2008.065243. Epub 2009 Apr 14. J Med Genet. 2009. PMID: 19366998 Free article.
294 results