Martin L - Search Results

1

Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc.

Verschuere S, Navassiolava N, Martin L, Nevalainen PI, Coucke PJ, Vanakker OM. Verschuere S, et al. Among authors: martin l. Genet Med. 2021 Jan;23(1):131-139. doi: 10.1038/s41436-020-00945-6. Epub 2020 Sep 2. Genet Med. 2021. PMID: 32873932 Free article.

2

Novel ABCC6 mutations in pseudoxanthoma elasticum.

Chassaing N, Martin L, Mazereeuw J, Barrié L, Nizard S, Bonafé JL, Calvas P, Hovnanian A. Chassaing N, et al. Among authors: martin l. J Invest Dermatol. 2004 Mar;122(3):608-13. doi: 10.1111/j.0022-202X.2004.22312.x. J Invest Dermatol. 2004. PMID: 15086542 Free article.

3

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.

Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali-Ronchetti I, De Paepe A. Vanakker OM, et al. Among authors: martin l. J Invest Dermatol. 2007 Mar;127(3):581-7. doi: 10.1038/sj.jid.5700610. Epub 2006 Nov 16. J Invest Dermatol. 2007. PMID: 17110937 Free article.

4

Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients.

Chassaing N, Martin L, Bourthoumieu S, Calvas P, Hovnanian A. Chassaing N, et al. Among authors: martin l. Hum Mutat. 2007 Oct;28(10):1046. doi: 10.1002/humu.9509. Hum Mutat. 2007. PMID: 17823974

5

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: martin l. 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.

6

Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome.

Vanakker OM, Martin L, Schurgers LJ, Quaglino D, Costrop L, Vermeer C, Pasquali-Ronchetti I, Coucke PJ, De Paepe A. Vanakker OM, et al. Among authors: martin l. Lab Invest. 2010 Jun;90(6):895-905. doi: 10.1038/labinvest.2010.68. Epub 2010 Apr 5. Lab Invest. 2010. PMID: 20368697 Free article.

7

A mouse model of β-thalassemia shows a liver-specific down-regulation of Abcc6 expression.

Martin L, Douet V, VanWart CM, Heller MB, Le Saux O. Martin L, et al. Am J Pathol. 2011 Feb;178(2):774-83. doi: 10.1016/j.ajpath.2010.10.004. Am J Pathol. 2011. PMID: 21281810 Free PMC article.

8

Acquired pseudoxanthoma elasticum presenting after liver transplantation.

Bercovitch L, Martin L, Chassaing N, Hefferon TW, Bessis D, Vanakker O, Terry SF. Bercovitch L, et al. Among authors: martin l. J Am Acad Dermatol. 2011 May;64(5):873-8. doi: 10.1016/j.jaad.2010.03.030. Epub 2011 Mar 12. J Am Acad Dermatol. 2011. PMID: 21397982 Free PMC article.

9

Reply to the article of C. Markello et al. entitled "Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum".

Lefthériotis G, Vanakker O, Le Saux O, Martin L. Lefthériotis G, et al. Among authors: martin l. Mol Genet Metab. 2011 Jun;103(2):199-200. doi: 10.1016/j.ymgme.2011.03.014. Epub 2011 Mar 24. Mol Genet Metab. 2011. PMID: 21497121 Free PMC article. No abstract available.

10

Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum.

Brampton C, Yamaguchi Y, Vanakker O, Van Laer L, Chen LH, Thakore M, De Paepe A, Pomozi V, Szabó PT, Martin L, Váradi A, Le Saux O. Brampton C, et al. Among authors: martin l. Cell Cycle. 2011 Jun 1;10(11):1810-20. doi: 10.4161/cc.10.11.15681. Epub 2011 Jun 1. Cell Cycle. 2011. PMID: 21597330 Free PMC article.

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