Pseudoxanthome élastique (French Wikipedia)

Analysis of information sources in references of the Wikipedia article "Pseudoxanthome élastique" in French language version.

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1whonamedit.com

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doi.org

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(en) Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A, « Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations » J Med Genet. 2005;42(12):881–92. DOI 10.1136/jmg.2004.030171 PMC 1735972 PMID 15894595
(en) Finger RP, Charbel Issa P, Ladewig MS et al. « Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches » Surv Ophthalmol. 2009;54(2):272–85. DOI 10.1016/j.survophthal.2008.12.006 PMID 19298904
(en) Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J. « pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter » Proc Natl Acad Sci. U S A 2000;97(11):6001–6. DOI 10.1073/pnas.100041297 PMC 18548 PMID 10811882
(en) Bergen AA, Plomp AS, Schuurman EJ et al. « Mutations in ABCC6 cause pseudoxanthoma elasticum » Nat Genet. 2000;25(2):228–31. DOI 10.1038/76109 PMID 10835643
(en) Le Saux O, Urban Z, Tschuch C et al. « Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum » Nat Genet. 2000;25(2): 223–7. DOI 10.1038/76102 PMID 10835642
(en) Struk B, Cai L, Zäch S et al. « Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum » J Mol Med. 2000;78 (5): 282–6. DOI 10.1007/s001090000114 PMID 10954200
(en) Schulz V, Hendig D, Szliska C, Götting C, Kleesiek K. « Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum » Hum Biol. 2005;77(3):367–84. DOI 10.1353/hub.2005.0054 PMID 16392638.
(en) Pfendner EG, Vanakker OM, Terry SF. et al. « Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum » J Med Genet. 2007;44(10):621–8. DOI 10.1136/jmg.2007.051094 PMC 2597973 PMID 17617515
(en) Trip MD, Smulders YM, Wegman JJ et al. « Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease » Circulation 2002;106(7):773–5. DOI 10.1161/01.CIR.0000028420.27813.C0 PMID 12176944
(en) Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali-Ronchetti I, De Paepe A. « pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity » J Invest Dermatol. 2007;127(3):581–7. DOI 10.1038/sj.jid.5700610 PMID 17110937
(en) Gheduzzi D, Sammarco R, Quaglino D, Bercovitch L, Terry S, Taylor W, Ronchetti I. « Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum » Ultrastructural pathology 2003;27(6):375–84. DOI 10.1080/716100800 PMID 14660276.
(en) Li Q, Jiang Q, Pfendner E, Váradi A, Uitto J. « pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms » Exp Dermatol. 2009;18(1):1–11. DOI 10.1111/j.1600-0625.2008.00795.x PMC 3349969 PMID 19054062.
(en) Terry SF, Terry PF, Rauen KA, Uitto J, Bercovitch LG. « Advocacy groups as research organizations: the PXE International example » Nat Rev Genet. 2007;8(2):157–64. DOI 10.1038/nrg1991 PMID 17230202
(en) Terry SF « Learning genetics » Health Aff. (Millwood) 2003;22(5):166–71. DOI 10.1377/hlthaff.22.5.166 PMID 14515892

nih.gov

ncbi.nlm.nih.gov

(en) Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A, « Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations » J Med Genet. 2005;42(12):881–92. DOI 10.1136/jmg.2004.030171 PMC 1735972 PMID 15894595
(en) Finger RP, Charbel Issa P, Ladewig MS et al. « Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches » Surv Ophthalmol. 2009;54(2):272–85. DOI 10.1016/j.survophthal.2008.12.006 PMID 19298904
(en) Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J. « pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter » Proc Natl Acad Sci. U S A 2000;97(11):6001–6. DOI 10.1073/pnas.100041297 PMC 18548 PMID 10811882
(en) Bergen AA, Plomp AS, Schuurman EJ et al. « Mutations in ABCC6 cause pseudoxanthoma elasticum » Nat Genet. 2000;25(2):228–31. DOI 10.1038/76109 PMID 10835643
(en) Le Saux O, Urban Z, Tschuch C et al. « Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum » Nat Genet. 2000;25(2): 223–7. DOI 10.1038/76102 PMID 10835642
(en) Struk B, Cai L, Zäch S et al. « Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum » J Mol Med. 2000;78 (5): 282–6. DOI 10.1007/s001090000114 PMID 10954200
(en) Schulz V, Hendig D, Szliska C, Götting C, Kleesiek K. « Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum » Hum Biol. 2005;77(3):367–84. DOI 10.1353/hub.2005.0054 PMID 16392638.
(en) Pfendner EG, Vanakker OM, Terry SF. et al. « Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum » J Med Genet. 2007;44(10):621–8. DOI 10.1136/jmg.2007.051094 PMC 2597973 PMID 17617515
(en) Trip MD, Smulders YM, Wegman JJ et al. « Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease » Circulation 2002;106(7):773–5. DOI 10.1161/01.CIR.0000028420.27813.C0 PMID 12176944
(en) Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali-Ronchetti I, De Paepe A. « pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity » J Invest Dermatol. 2007;127(3):581–7. DOI 10.1038/sj.jid.5700610 PMID 17110937
(en) Gheduzzi D, Sammarco R, Quaglino D, Bercovitch L, Terry S, Taylor W, Ronchetti I. « Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum » Ultrastructural pathology 2003;27(6):375–84. DOI 10.1080/716100800 PMID 14660276.
(en) Li Q, Jiang Q, Pfendner E, Váradi A, Uitto J. « pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms » Exp Dermatol. 2009;18(1):1–11. DOI 10.1111/j.1600-0625.2008.00795.x PMC 3349969 PMID 19054062.
(en) Terry SF, Terry PF, Rauen KA, Uitto J, Bercovitch LG. « Advocacy groups as research organizations: the PXE International example » Nat Rev Genet. 2007;8(2):157–64. DOI 10.1038/nrg1991 PMID 17230202
(en) Terry SF « Learning genetics » Health Aff. (Millwood) 2003;22(5):166–71. DOI 10.1377/hlthaff.22.5.166 PMID 14515892

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