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181 results

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Page 1
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: goussard p. 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: goussard p. 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
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: goussard p. 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.
SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia.
Pasmant E, Gilbert-Dussardier B, Petit A, de Laval B, Luscan A, Gruber A, Lapillonne H, Deswarte C, Goussard P, Laurendeau I, Uzan B, Pflumio F, Brizard F, Vabres P, Naguibvena I, Fasola S, Millot F, Porteu F, Vidaud D, Landman-Parker J, Ballerini P. Pasmant E, et al. Among authors: goussard p. Oncogene. 2015 Jan 29;34(5):631-8. doi: 10.1038/onc.2013.587. Epub 2014 Jan 27. Oncogene. 2015. PMID: 24469042
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: goussard p. 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.
Approaches and processes for paediatric chest X-ray classification used in the SHINE TB treatment-shortening trial.
Palmer M, van der Zalm MM, Schaaf HS, Goussard P, Morrison J, Seddon JA, Hissar S, Baskaran D, Kinikar A, Raichur P, Wobudeya E, Chabala C, Lebeau K, Crook AM, Turkova A, Gibb D, Hesseling AC. Palmer M, et al. Among authors: goussard p. Int J Tuberc Lung Dis. 2024 Nov 1;28(11):547-553. doi: 10.5588/ijtld.24.0076. Int J Tuberc Lung Dis. 2024. PMID: 39468018 Clinical Trial.
181 results