Le Saux O - Search Results

1

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.

Costrop LM, Vanakker OO, Van Laer L, Le Saux O, Martin L, Chassaing N, Guerra D, Pasquali-Ronchetti I, Coucke PJ, De Paepe A. Costrop LM, et al. Among authors: le saux o. J Hum Genet. 2010 Feb;55(2):112-7. doi: 10.1038/jhg.2009.132. Epub 2010 Jan 15. J Hum Genet. 2010. PMID: 20075945 Free article.

2

Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.

Le Saux O, Urban Z, Göring HH, Csiszar K, Pope FM, Richards A, Pasquali-Ronchetti I, Terry S, Bercovitch L, Lebwohl MG, Breuning M, van den Berg P, Kornet L, Doggett N, Ott J, de Jong PT, Bergen AA, Boyd CD. Le Saux O, et al. Genomics. 1999 Nov 15;62(1):1-10. doi: 10.1006/geno.1999.5925. Genomics. 1999. PMID: 10585762

3

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.

Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD. Le Saux O, et al. Nat Genet. 2000 Jun;25(2):223-7. doi: 10.1038/76102. Nat Genet. 2000. PMID: 10835642

4

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD. Le Saux O, et al. Am J Hum Genet. 2001 Oct;69(4):749-64. doi: 10.1086/323704. Epub 2001 Aug 31. Am J Hum Genet. 2001. PMID: 11536079 Free PMC article.

5

[News in pseudoxanthoma elasticum].

Martin L, Le Saux O. Martin L, et al. Among authors: le saux o. Ann Dermatol Venereol. 2001 Sep;128(8-9):938-42. Ann Dermatol Venereol. 2001. PMID: 11590352 Review. French. No abstract available.

6

[The molecular genetics of pseudoxanthoma elasticum].

Le Saux O, Martin L. Le Saux O, et al. Ann Dermatol Venereol. 2001 Sep;128(8-9):943-6. Ann Dermatol Venereol. 2001. PMID: 11590353 Review. French. No abstract available.

7

Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa.

Le Saux O, Beck K, Sachsinger C, Treiber C, Göring HH, Curry K, Johnson EW, Bercovitch L, Marais AS, Terry SF, Viljoen DL, Boyd CD. Le Saux O, et al. Hum Genet. 2002 Oct;111(4-5):331-8. doi: 10.1007/s00439-002-0808-1. Epub 2002 Sep 7. Hum Genet. 2002. PMID: 12384774

8

Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients.

Hamlin N, Beck K, Bacchelli B, Cianciulli P, Pasquali-Ronchetti I, Le Saux O. Hamlin N, et al. Among authors: le saux o. Br J Haematol. 2003 Sep;122(5):852-4. doi: 10.1046/j.1365-2141.2003.04484.x. Br J Haematol. 2003. PMID: 12930400 Free article.

9

Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro.

Le Saux O, Bunda S, VanWart CM, Douet V, Got L, Martin L, Hinek A. Le Saux O, et al. J Invest Dermatol. 2006 Jul;126(7):1497-505. doi: 10.1038/sj.jid.5700201. Epub 2006 Mar 16. J Invest Dermatol. 2006. PMID: 16543900 Free PMC article.

10

[Increased haemoglobin A2 levels in pseudoxanthoma elasticum].

Martin L, Pissard S, Blanc P, Chassaing N, Legac E, Briault S, Le Bert M, Le Saux O. Martin L, et al. Among authors: le bert m, le saux o. Ann Dermatol Venereol. 2006 Aug-Sep;133(8-9 Pt 1):645-51. doi: 10.1016/s0151-9638(06)70985-1. Ann Dermatol Venereol. 2006. PMID: 17053732 French.

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