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Items: 1 to 20 of 139

1.

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
2.

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
3.

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

Rutsch F, Ruf N, Vaingankar S, Toliat MR, Suk A, Höhne W, Schauer G, Lehmann M, Roscioli T, Schnabel D, Epplen JT, Knisely A, Superti-Furga A, McGill J, Filippone M, Sinaiko AR, Vallance H, Hinrichs B, Smith W, Ferre M, Terkeltaub R, Nürnberg P.

Nat Genet. 2003 Aug;34(4):379-81.

PMID:
12881724
4.

Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification.

Numakura C, Yamada M, Ariyasu D, Maesaka A, Kobayashi H, Nishimura G, Ikeda M, Hasegawa Y.

J Bone Miner Metab. 2006;24(1):48-52.

PMID:
16369898
5.

Generalized arterial calcification of infancy: two siblings with prolonged survival.

Ciana G, Trappan A, Bembi B, Benettoni A, Maso G, Zennaro F, Ruf N, Schnabel D, Rutsch F.

Eur J Pediatr. 2006 Apr;165(4):258-63. Epub 2005 Nov 29.

PMID:
16315058
6.

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
7.

Generalized arterial calcification of infancy: different clinical courses in two affected siblings.

Cheng KS, Chen MR, Ruf N, Lin SP, Rutsch F.

Am J Med Genet A. 2005 Jul 15;136(2):210-3.

PMID:
15940697
8.

Impact of ENPP1 genotype on arterial calcification in patients with end-stage renal failure.

Eller P, Hochegger K, Feuchtner GM, Zitt E, Tancevski I, Ritsch A, Kronenberg F, Rosenkranz AR, Patsch JR, Mayer G.

Nephrol Dial Transplant. 2008 Jan;23(1):321-7. Epub 2007 Sep 10.

9.

Fetal hydrops, hyperechogenic arteries and pathological doppler findings at 29 weeks: prenatal presentation of generalized arterial calcification of infancy - a novel mutation in ENPP1.

Reitter A, Fischer D, Buxmann H, Nitschke Y, Rutsch F, Mottok A, Hansmann ML, Harms E, Louwen F, Schlosser R.

Fetal Diagn Ther. 2009;25(2):264-8. doi: 10.1159/000223683. Epub 2009 Jun 10.

PMID:
19521093
10.

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F.

Am J Hum Genet. 2012 Jan 13;90(1):25-39. doi: 10.1016/j.ajhg.2011.11.020. Epub 2011 Dec 29.

11.

Molecular diagnosis of generalized arterial calcification of infancy (GACI).

Kalal IG, Seetha D, Panda A, Nitschke Y, Rutsch F.

J Cardiovasc Dis Res. 2012 Apr;3(2):150-4. doi: 10.4103/0975-3583.95373.

12.

Generalized arterial calcification of infancy associated with meconium peritonitis: a case report and review of the literature.

Sawyer T, Stacey M, Mulreany M, Thompson M, Nitschke Y, Rutsch F, Mahnke CB.

Am J Perinatol. 2009 Nov;26(10):711-6. doi: 10.1055/s-0029-1223282. Epub 2009 May 18. Review.

PMID:
19452427
13.

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.

Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM.

Am J Hum Genet. 2010 Feb 12;86(2):267-72. doi: 10.1016/j.ajhg.2010.01.006. Epub 2010 Feb 4.

14.

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.

15.

Impact of ENPP1 and MMP3 gene polymorphisms on aortic calcification in patients with type 2 diabetes in a Korean population.

Lee JE, Choi YK, Seo HA, Jeon JH, Jeong JY, Moon SS, Kim JG, Kim BW, Kim SW, Min Yoo, Kim JY, Lee IK.

Diabetes Res Clin Pract. 2010 Apr;88(1):87-96. doi: 10.1016/j.diabres.2010.01.002. Epub 2010 Jan 25.

PMID:
20092902
16.

New variants in the Enpp1 and Ptpn6 genes cause low BMD, crystal-related arthropathy, and vascular calcification.

Babij P, Roudier M, Graves T, Han CY, Chhoa M, Li CM, Juan T, Morony S, Grisanti M, Li X, Yu L, Dwyer D, Lloyd DJ, Bass MB, Richards WG, Ebeling C, Amato J, Carlson G.

J Bone Miner Res. 2009 Sep;24(9):1552-64. doi: 10.1359/jbmr.090417.

17.

Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy.

Edouard T, Chabot G, Miro J, Buhas DC, Nitschke Y, Lapierre C, Rutsch F, Alos N.

Eur J Pediatr. 2011 Dec;170(12):1585-90. doi: 10.1007/s00431-011-1572-9. Epub 2011 Sep 20.

PMID:
21932012
18.

Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE).

Apschner A, Huitema LF, Ponsioen B, Peterson-Maduro J, Schulte-Merker S.

Dis Model Mech. 2014 Jul;7(7):811-22. doi: 10.1242/dmm.015693. Epub 2014 Jun 6.

19.

Hearing loss is part of the clinical picture of ENPP1 loss of function mutation.

Brachet C, Mansbach AL, Clerckx A, Deltenre P, Heinrichs C.

Horm Res Paediatr. 2014;81(1):63-6. doi: 10.1159/000354661. Epub 2013 Nov 6. Review.

PMID:
24216977
20.

Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a large deletion/insertion mutation in the Enpp1 gene.

Li Q, Pratt CH, Dionne LA, Fairfield H, Karst SY, Sundberg JP, Uitto J.

PLoS One. 2014 Dec 5;9(12):e113542. doi: 10.1371/journal.pone.0113542. eCollection 2014.

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