-
1
-
-
0034123093
-
Mutations in ABCC6 cause pseudoxanthoma elasticum
-
Bergen, A. A., Plomp, A. S., Schuurman, E. J., Terry, S., Breuning, M., Dauwerse, H., etal. (2000). Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat. Genet. 25, 228-231.
-
(2000)
Nat. Genet
, vol.25
, pp. 228-231
-
-
Bergen, A.A.1
Plomp, A.S.2
Schuurman, E.J.3
Terry, S.4
Breuning, M.5
Dauwerse, H.6
-
2
-
-
0034490045
-
Nucleotide pyrophos- phatases/phosphodiesterases on the move
-
Bollen, M., Gijsbers, R., Ceulemans, H., Stalmans, W., and Stefan, C. (2000). Nucleotide pyrophos- phatases/phosphodiesterases on the move. Crit. Rev. Biochem. Mol. Biol. 35,393-432.
-
(2000)
Crit. Rev. Biochem. Mol. Biol
, vol.35
, pp. 393-432
-
-
Bollen, M.1
Gijsbers, R.2
Ceulemans, H.3
Stalmans, W.4
Stefan, C.5
-
3
-
-
35448946448
-
Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients
-
Chassaing, N., Martin, L., Bourthoumieu, S., Calvas, P., and Hovnanian, A. (2007). Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients. Hum. Mutat. 28,1046.
-
(2007)
Hum. Mutat
, vol.28
, pp. 1046
-
-
Chassaing, N.1
Martin, L.2
Bourthoumieu, S.3
Calvas, P.4
Hovnanian, A.5
-
4
-
-
28844498292
-
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
-
Chassaing, N., Martin, L., Calvas, P., Le, B. M., and Hovnanian, A. (2005). Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J. Med. Genet. 42, 881-892.
-
(2005)
J. Med. Genet
, vol.42
, pp. 881-892
-
-
Chassaing, N.1
Martin, L.2
Calvas, P.3
Le, B.M.4
Hovnanian, A.5
-
5
-
-
0038664247
-
Physiological and pathophysiological functions of the ecto-nucleotide pyrophos- phatase/phosphodiesterase family
-
Goding, J. W., Grobben, B., and Slegers, H. (2003). Physiological and pathophysiological functions of the ecto-nucleotide pyrophos- phatase/phosphodiesterase family. Biochim. Biophys. Acta 1638,1-19.
-
(2003)
Biochim. Biophys. Acta
, vol.1638
, pp. 1-19
-
-
Goding, J.W.1
Grobben, B.2
Slegers, H.3
-
6
-
-
31844441584
-
Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum
-
Hendig, D., Schulz, V., Arndt, M., Szliska, C., Kleesiek, K., and Gotting, C. (2006). Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum. Clin. Chem. 52, 227-234.
-
(2006)
Clin. Chem
, vol.52
, pp. 227-234
-
-
Hendig, D.1
Schulz, V.2
Arndt, M.3
Szliska, C.4
Kleesiek, K.5
Gotting, C.6
-
7
-
-
0037367740
-
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum
-
Hu, X., Plomp,A.,Wijnholds, J., Ten, B. J., van Soest, S., van den Born, A., etal. (2003). ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum. Eur. J. Hum. Genet. 11, 215-224.
-
(2003)
Eur. J. Hum. Genet
, vol.11
, pp. 215-224
-
-
Hu, X.1
Plomp, A.2
Wijnholds, J.3
Ten, B.J.4
Van Soest, S.5
Van Den Born, A.6
-
8
-
-
75149190148
-
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy
-
Le Boulanger, G., Labreze, C., Croue, A., Schurgers, L. J., Chassaing, N., Wittkampf, T., etal. (2010). An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. Am.J.Med.Genet.A152A, 118-123.
-
(2010)
Am. J. Med. Genet. A
, vol.152 A
, pp. 118-123
-
-
Le Boulanger, G.1
Labreze, C.2
Croue, A.3
Schurgers, L.J.4
Chassaing, N.5
Wittkampf, T.6
-
9
-
-
0034835028
-
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum
-
LeSaux,O.,Beck,K.,Sachsinger,C.,Silvestri, C., Treiber, C., Goring, H. H., etal. (2001). A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am. J. Hum. Genet. 69,749-764.
-
(2001)
Am. J. Hum. Genet
, vol.69
, pp. 749-764
-
-
LeSaux, O.1
Beck, K.2
Sachsinger, C.3
Silvestri, C.4
Treiber, C.5
Goring, H.H.6
-
10
-
-
18844465976
-
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
-
Le Saux, O., Urban, Z., Tschuch, C., Csiszar, K., Bacchelli, B., Quaglino, D., etal. (2000). Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat. Genet. 25,223-227.
-
(2000)
Nat. Genet
, vol.25
, pp. 223-227
-
-
Le Saux, O.1
Urban, Z.2
Tschuch, C.3
Csiszar, K.4
Bacchelli, B.5
Quaglino, D.6
-
11
-
-
76049121613
-
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene
-
Levy-Litan, V., Hershkovitz, E., Avizov, L., Leventhal, N., Bercovich, D., Chalifa-Caspi, V., etal. (2010). Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am. J. Hum. Genet. 86, 273-278.
-
(2010)
Am. J. Hum. Genet
, vol.86
, pp. 273-278
-
-
Levy-Litan, V.1
Hershkovitz, E.2
Avizov, L.3
Leventhal, N.4
Bercovich, D.5
Chalifa-Caspi, V.6
-
12
-
-
57649232758
-
Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms
-
Li, Q., Jiang, Q., Pfendner, E., Váradi, A., and Uitto, J. (2009). Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp. Dermatol. 18,1-11.
-
(2009)
Exp. Dermatol
, vol.18
, pp. 1-11
-
-
Li, Q.1
Jiang, Q.2
Pfendner, E.3
Váradi, A.4
Uitto, J.5
-
13
-
-
84860321632
-
Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to ahomozygousmissense mutation in the ENPP1 gene
-
Li, Q., Schumacher, W., Jablonski, D., Siegel, D., and Uitto, J. (2012). Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to ahomozygousmissense mutation in the ENPP1 gene.Br.J.Dermatol. 166,1107-1111.
-
(2012)
Br.J.Dermatol
, vol.166
, pp. 1107-1111
-
-
Li, Q.1
Schumacher, W.2
Jablonski, D.3
Siegel, D.4
Uitto, J.5
-
14
-
-
76049105171
-
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., and Strom, T. M. (2010). Loss-of- function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am. J. Hum. Genet. 86,267-272.
-
(2010)
Am. J. Hum. Genet
, vol.86
, pp. 267-272
-
-
Lorenz-Depiereux, B.1
Schnabel, D.2
Tiosano, D.3
Häusler, G.4
Strom, T.M.5
-
15
-
-
24344487872
-
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutation sin ABCC6
-
Miksch, S., Lumsden, A., Guenther, U. P., Foernzler, D., Christen-Zäch, S., Daugherty, C., etal. (2005). Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutation sin ABCC6.Hum.Mutat. 26,235-248.
-
(2005)
Hum.Mutat
, vol.26
, pp. 235-248
-
-
Miksch, S.1
Lumsden, A.2
Guenther, U.P.3
Foernzler, D.4
Christen-Zäch, S.5
Daugherty, C.6
-
16
-
-
0016416418
-
Idiopathic arterial calcification of infancy: a clinico-pathologic study
-
Moran, J. J. (1975). Idiopathic arterial calcification of infancy: a clinico-pathologic study. Pathol. Annu. 10, 393-417.
-
(1975)
Pathol. Annu
, vol.10
, pp. 393-417
-
-
Moran, J.J.1
-
17
-
-
0018163840
-
Idiopathic arterial calcification in infancy
-
Morton, R. (1978). Idiopathic arterial calcification in infancy. Histopathology 2,423-432.
-
(1978)
Histopathology
, vol.2
, pp. 423-432
-
-
Morton, R.1
-
18
-
-
69149100052
-
Manifestations of pseudoxanthoma elasticum in childhood
-
Naouri, M., Boisseau, C., Bonicel, P., Daudon, P., Bonneau, D., Chassaing, N., etal. (2009). Manifestations of pseudoxanthoma elasticum in childhood. Br. J. Dermatol. 161, 635-639
-
(2009)
Br. J. Dermatol
, vol.161
, pp. 635-639
-
-
Naouri, M.1
Boisseau, C.2
Bonicel, P.3
Daudon, P.4
Bonneau, D.5
Chassaing, N.6
-
19
-
-
84855860969
-
Generalized arterial calcification of infancy and pseudox-anthoma elasticum can be caused by mutations in either ENPP1 or ABCC6
-
Nitschke, Y., Baujat, G., Botschen, U., Wittkampf, T., du Moulin, M., Stella, J., etal. (2012). Generalized arterial calcification of infancy and pseudox-anthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am. J. Hum. Genet. 90, 25-39.
-
(2012)
Am. J. Hum. Genet
, vol.90
, pp. 25-39
-
-
Nitschke, Y.1
Baujat, G.2
Botschen, U.3
Wittkampf, T.4
Du Moulin, M.5
Stella, J.6
-
20
-
-
77950418408
-
Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings
-
Plomp, A. S., Toonstra, J., Bergen, A. A., van Dijk, M. R., and de Jong, P. T. (2010). Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings. Am.J.Med.Genet. 152A, 1049-1058.
-
(2010)
Am.J.Med.Genet
, vol.152 A
, pp. 1049-1058
-
-
Plomp, A.S.1
Toonstra, J.2
Bergen, A.A.3
Van Dijk, M.R.4
De Jong, P.T.5
-
21
-
-
60749131707
-
Generalized arterial calcification of infancy: treatment with bisphosphonates
-
Ramjan, K. A., Roscioli, T., Rutsch, F., Sillence,D.,and Munns,C. F. (2009). Generalized arterial calcification of infancy: treatment with bisphosphonates. Nat. Clin. Pract. Endocrinol. Metab. 5,167-172.
-
(2009)
Nat. Clin. Pract. Endocrinol. Metab
, vol.5
, pp. 167-172
-
-
Ramjan, K.A.1
Roscioli, T.2
Rutsch, F.3
Sillence, D.4
Munns, C.F.5
-
22
-
-
68149120891
-
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy
-
Rutsch, F., Boyer, P., Nitschke, Y., Ruf, N., Lorenz-Depierieux, B.,Wittkampf, T., etal. (2008). Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ. Cardiovasc. Genet. 1, 133-140.
-
(2008)
Circ. Cardiovasc. Genet
, vol.1
, pp. 133-140
-
-
Rutsch, F.1
Boyer, P.2
Nitschke, Y.3
Ruf, N.4
Lorenz-Depierieux, B.5
Wittkampf, T.6
-
23
-
-
80052153431
-
Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel
-
Rutsch, F., Nitschke, Y., and Terkeltaub, R. (2011). Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel. Circ. Res. 109, 578-592.
-
(2011)
Circ. Res
, vol.109
, pp. 578-592
-
-
Rutsch, F.1
Nitschke, Y.2
Terkeltaub, R.3
-
24
-
-
0042166167
-
MutationsinENPP1are associated with 'idiopathic' infantile arterial calcification
-
Rutsch, F., Ruf, N., Vaingankar, S., Toliat, M. R., Suk, A., Höhne, W., etal. (2003). MutationsinENPP1are associated with 'idiopathic' infantile arterial calcification. Nat. Genet. 34, 379-381.
-
(2003)
Nat. Genet
, vol.34
, pp. 379-381
-
-
Rutsch, F.1
Ruf, N.2
Vaingankar, S.3
Toliat, M.R.4
Suk, A.5
Höhne, W.6
-
25
-
-
0035135119
-
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification
-
Rutsch, F., Vaingankar, S., Johnson, K., Goldfine, I., Maddux, B., Schauerte, P., etal. (2001). PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. Am. J. Pathol. 158, 543-554.
-
(2001)
Am. J. Pathol
, vol.158
, pp. 543-554
-
-
Rutsch, F.1
Vaingankar, S.2
Johnson, K.3
Goldfine, I.4
Maddux, B.5
Schauerte, P.6
-
26
-
-
38849135998
-
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart
-
Vanakker,O.M.,Leroy,B.P.,Coucke,P., Bercovitch,L.G.,Uitto,J.,Viljoen,D., etal. (2008). Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum. Mutat. 29, 205.
-
(2008)
Hum. Mutat
, vol.29
, pp. 205
-
-
Vanakker, O.M.1
Leroy, B.P.2
Coucke, P.3
Bercovitch, L.G.4
Uitto, J.5
Viljoen, D.6
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