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Items: 1 to 20 of 22

1.

Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel.

Rutsch F, Nitschke Y, Terkeltaub R.

Circ Res. 2011 Aug 19;109(5):578-92. doi: 10.1161/CIRCRESAHA.111.247965. Review.

2.

A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene.

Saito T, Shimizu Y, Hori M, Taguchi M, Igarashi T, Fukumoto S, Fujitab T.

Bone. 2011 Oct;49(4):913-6. doi: 10.1016/j.bone.2011.06.029.

PMID:
21745613
3.

Matrix Gla protein polymorphism, but not concentrations, is associated with radiographic hand osteoarthritis.

Misra D, Booth SL, Crosier MD, Ordovas JM, Felson DT, Neogi T.

J Rheumatol. 2011 Sep;38(9):1960-5. doi: 10.3899/jrheum.100985.

4.

An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.

Le Boulanger G, Labrèze C, Croué A, Schurgers LJ, Chassaing N, Wittkampf T, Rutsch F, Martin L.

Am J Med Genet A. 2010 Jan;152A(1):118-23. doi: 10.1002/ajmg.a.33162.

PMID:
20034067
5.

Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.

Uitto J, Li Q, Jiang Q.

J Invest Dermatol. 2010 Mar;130(3):661-70. doi: 10.1038/jid.2009.411.

6.

Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.

Rutsch F, Böyer P, Nitschke Y, Ruf N, Lorenz-Depierieux B, Wittkampf T, Weissen-Plenz G, Fischer RJ, Mughal Z, Gregory JW, Davies JH, Loirat C, Strom TM, Schnabel D, Nürnberg P, Terkeltaub R; GACI Study Group..

Circ Cardiovasc Genet. 2008 Dec;1(2):133-40. doi: 10.1161/CIRCGENETICS.108.797704.

7.

Pseudoxanthoma-elasticum-like syndrome and thalassemia: an update.

Fabbri E, Forni GL, Guerrini G, Borgna-Pignatti C.

Dermatol Online J. 2009 Jul 15;15(7):7. Review.

8.
9.

Manifestations of pseudoxanthoma elasticum in childhood.

Naouri M, Boisseau C, Bonicel P, Daudon P, Bonneau D, Chassaing N, Martin L.

Br J Dermatol. 2009 Sep;161(3):635-9. doi: 10.1111/j.1365-2133.2009.09298.x.

PMID:
19519828
10.

Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications.

Dlamini N, Splitt M, Durkan A, Siddiqui A, Padayachee S, Hobbins S, Rutsch F, Wraige E.

Am J Med Genet A. 2009 Mar;149A(3):456-60. doi: 10.1002/ajmg.a.32646.

PMID:
19206175
11.

Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.

Li Q, Schurgers LJ, Smith AC, Tsokos M, Uitto J, Cowen EW.

Am J Pathol. 2009 Feb;174(2):534-40. doi: 10.2353/ajpath.2009.080865.

12.

Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.

Li Q, Grange DK, Armstrong NL, Whelan AJ, Hurley MY, Rishavy MA, Hallgren KW, Berkner KL, Schurgers LJ, Jiang Q, Uitto J.

J Invest Dermatol. 2009 Mar;129(3):553-63. doi: 10.1038/jid.2008.271.

13.

Haplotype structure of the ENPP1 Gene and Nominal Association of the K121Q missense single nucleotide polymorphism with glycemic traits in the Framingham Heart Study.

Stolerman ES, Manning AK, McAteer JB, Dupuis J, Fox CS, Cupples LA, Meigs JB, Florez JC.

Diabetes. 2008 Jul;57(7):1971-7. doi: 10.2337/db08-0266.

14.

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG.

J Med Genet. 2007 Oct;44(10):621-8.

15.

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.

J Invest Dermatol. 2007 Mar;127(3):581-7.

16.

The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).

Ruf N, Uhlenberg B, Terkeltaub R, Nürnberg P, Rutsch F.

Hum Mutat. 2005 Jan;25(1):98. Erratum in: Hum Mutat. 2005 Nov;26(5):495-6.

PMID:
15605415
17.

Elastosis perforans serpiginosa associated with pseudo-pseudoxanthoma elasticum during treatment of Wilson's disease with penicillamine.

Bécuwe C, Dalle S, Ronger-Savlé S, Skowron F, Balme B, Kanitakis J, Thomas L.

Dermatology. 2005;210(1):60-3.

PMID:
15604549
18.

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

Hamlin N, Beck K, Bacchelli B, Cianciulli P, Pasquali-Ronchetti I, Le Saux O.

Br J Haematol. 2003 Sep;122(5):852-4.

PMID:
12930400
19.

Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with beta-thalassemia.

Baccarani-Contri M, Bacchelli B, Boraldi F, Quaglino D, Taparelli F, Carnevali E, Francomano MA, Seidenari S, Bettoli V, De Sanctis V, Pasquali-Ronchetti I.

J Am Acad Dermatol. 2001 Jan;44(1):33-9.

PMID:
11148474
20.

Pseudoxanthoma elasticum.

Neldner KH.

Clin Dermatol. 1988 Jan-Mar;6(1):1-159. No abstract available.

PMID:
3359381
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