Assouline B - Search Results

1

Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.

Bahuau M, Houdayer C, Assouline B, Blanchet-Bardon C, Le Merrer M, Lyonnet S, Giraud S, Récan D, Lakhdar H, Vidaud M, Vidaud D. Bahuau M, et al. Among authors: assouline b. Am J Med Genet. 1998 Jan 23;75(3):265-72. Am J Med Genet. 1998. PMID: 9475595

2

Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.

Bahuau M, Flintoff W, Assouline B, Lyonnet S, Le Merrer M, Prieur M, Guilloud-Bataille M, Feingold N, Munnich A, Vidaud M, Vidaud D. Bahuau M, et al. Among authors: assouline b. Am J Med Genet. 1996 Dec 18;66(3):347-55. doi: 10.1002/(SICI)1096-8628(19961218)66:3<347::AID-AJMG20>3.0.CO;2-L. Am J Med Genet. 1996. PMID: 8985499

3

Familial aggregation of malignant melanoma/dysplastic naevi and tumours of the nervous system: an original syndrome of tumour proneness.

Bahuau M, Vidaud D, Kujas M, Palangié A, Assouline B, Chaignaud-Lebreton M, Prieur M, Vidaud M, Harpey JP, Lafourcade J, Caille B. Bahuau M, et al. Among authors: assouline b. Ann Genet. 1997;40(2):78-91. Ann Genet. 1997. PMID: 9259954

4

Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors.

Bahuau M, Vidaud D, Jenkins RB, Bièche I, Kimmel DW, Assouline B, Smith JS, Alderete B, Cayuela JM, Harpey JP, Caille B, Vidaud M. Bahuau M, et al. Among authors: assouline b. Cancer Res. 1998 Jun 1;58(11):2298-303. Cancer Res. 1998. PMID: 9622062

5

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: assouline b. 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.

6

A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.

Fang LJ, Simard MJ, Vidaud D, Assouline B, Lemieux B, Vidaud M, Chabot B, Thirion JP. Fang LJ, et al. Among authors: assouline b. J Mol Biol. 2001 Apr 13;307(5):1261-70. doi: 10.1006/jmbi.2001.4561. J Mol Biol. 2001. PMID: 11292340

7

Echinococcus multilocularis: microsatellite polymorphism in U1 snRNA genes.

Bretagne S, Assouline B, Vidaud D, Houin R, Vidaud M. Bretagne S, et al. Among authors: assouline b. Exp Parasitol. 1996 Apr;82(3):324-8. doi: 10.1006/expr.1996.0040. Exp Parasitol. 1996. PMID: 8631384 No abstract available.

8

Misdiagnosis revealed by genetic linkage analysis in a family with Wilson disease.

Vidaud D, Assouline B, Lecoz P, Cadranel JF, Chappuis P. Vidaud D, et al. Among authors: assouline b. Neurology. 1996 May;46(5):1485-6. doi: 10.1212/wnl.46.5.1485. Neurology. 1996. PMID: 8628510 No abstract available.

9

Microsatellite in the beta-tubulin gene of Toxoplasma gondii as a new genetic marker for use in direct screening of amniotic fluids.

Costa JM, Dardé ML, Assouline B, Vidaud M, Bretagne S. Costa JM, et al. Among authors: assouline b. J Clin Microbiol. 1997 Oct;35(10):2542-5. doi: 10.1128/jcm.35.10.2542-2545.1997. J Clin Microbiol. 1997. PMID: 9316904 Free PMC article.

10

Myotonic dystrophy protein kinase gene expression in skeletal muscle from congenitally affected infants.

Laurent A, Costa JM, Assouline B, Voyer M, Vidaud M. Laurent A, et al. Among authors: assouline b. Ann Genet. 1997;40(3):169-74. Ann Genet. 1997. PMID: 9401107

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