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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: laurendeau i. 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.
Clonal analysis of macronodules in cirrhosis.
Paradis V, Laurendeau I, Vidaud M, Bedossa P. Paradis V, et al. Among authors: laurendeau i. Hepatology. 1998 Oct;28(4):953-8. doi: 10.1002/hep.510280409. Hepatology. 1998. PMID: 9755231
Clonal analysis of renal sporadic angiomyolipomas.
Paradis V, Laurendeau I, Vieillefond A, Blanchet P, Eschwege P, Benoît G, Vidaud M, Jardin A, Bedossa P. Paradis V, et al. Among authors: laurendeau i. Hum Pathol. 1998 Oct;29(10):1063-7. doi: 10.1016/s0046-8177(98)90414-2. Hum Pathol. 1998. PMID: 9781642
Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B).
Bahuau M, Laurendeau I, Pelet A, Assouline B, Lamireau T, Taine L, Le Bail B, Vergnes P, Gallet S, Vidaud M, Lyonnet S, Lacombe D, Vidaud D. Bahuau M, et al. Among authors: laurendeau i. J Med Genet. 2000 Feb;37(2):146-50. doi: 10.1136/jmg.37.2.146. J Med Genet. 2000. PMID: 10712107 Free PMC article. No abstract available.
108 results