-
1
-
-
62649135299
-
Incidence and prevalence of nutritional and hereditary rickets in southern Denmark
-
Beck-Nielsen S.S., Brock-Jacobsen B., Gram J., Brixen K., Jensen T.K. Incidence and prevalence of nutritional and hereditary rickets in southern Denmark. Eur J Endocrinol 2009, 160:491-497.
-
(2009)
Eur J Endocrinol
, vol.160
, pp. 491-497
-
-
Beck-Nielsen, S.S.1
Brock-Jacobsen, B.2
Gram, J.3
Brixen, K.4
Jensen, T.K.5
-
2
-
-
0029160578
-
A gene (PEX) A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets The HYP Consortium
-
A gene (PEX), A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets The HYP Consortium. Nat Genet. 1995, 11:130-136.
-
(1995)
Nat Genet.
, vol.11
, pp. 130-136
-
-
-
3
-
-
0033763097
-
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. ADHR Consortium
-
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. ADHR Consortium. Nat Genet 2000, 26:345-348.
-
(2000)
Nat Genet
, vol.26
, pp. 345-348
-
-
-
4
-
-
33750454816
-
Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism
-
Feng J.Q., Ward L.M., Liu S., Lu Y., Xie Y., Yuan B., et al. Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nat Genet 2006, 38:1310-1315.
-
(2006)
Nat Genet
, vol.38
, pp. 1310-1315
-
-
Feng, J.Q.1
Ward, L.M.2
Liu, S.3
Lu, Y.4
Xie, Y.5
Yuan, B.6
-
5
-
-
33750427897
-
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
-
Lorenz-Depiereux B., Bastepe M., Benet-Pagès A., Amyere M., Wagenstaller J., Müller-Barth U., et al. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet 2006, 38:1248-1250.
-
(2006)
Nat Genet
, vol.38
, pp. 1248-1250
-
-
Lorenz-Depiereux, B.1
Bastepe, M.2
Benet-Pagès, A.3
Amyere, M.4
Wagenstaller, J.5
Müller-Barth, U.6
-
6
-
-
58249112746
-
Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets
-
Farrow E.G., Davis S.I., Ward L.M., Summers L., Bubbear J., Keen R., et al. Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets. Bone 2009, 44:287-294.
-
(2009)
Bone
, vol.44
, pp. 287-294
-
-
Farrow, E.G.1
Davis, S.I.2
Ward, L.M.3
Summers, L.4
Bubbear, J.5
Keen, R.6
-
7
-
-
74249116909
-
Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia
-
Turan S., Aydin C., Bereket A., Akcay T., Guran T., Yaralioglu B.A., et al. Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia. Bone 2010, 46:402-409.
-
(2010)
Bone
, vol.46
, pp. 402-409
-
-
Turan, S.1
Aydin, C.2
Bereket, A.3
Akcay, T.4
Guran, T.5
Yaralioglu, B.A.6
-
8
-
-
77956897111
-
A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets
-
Koshida R., Yamaguchi H., Yamasaki K., Tsuchimochi W., Yonekawa T., Nakazato M. A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets. J Bone Miner Metab 2010, 28:585-590.
-
(2010)
J Bone Miner Metab
, vol.28
, pp. 585-590
-
-
Koshida, R.1
Yamaguchi, H.2
Yamasaki, K.3
Tsuchimochi, W.4
Yonekawa, T.5
Nakazato, M.6
-
9
-
-
77957653479
-
Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation
-
Mäkitie O., Pereira R.C., Kaitila I., Turan S., Bastepe M., Laine T., et al. Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation. J Bone Miner Res 2010, 25:2165-2174.
-
(2010)
J Bone Miner Res
, vol.25
, pp. 2165-2174
-
-
Mäkitie, O.1
Pereira, R.C.2
Kaitila, I.3
Turan, S.4
Bastepe, M.5
Laine, T.6
-
10
-
-
84864365432
-
Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets
-
Beck-Nielsen S.S., Brixen K., Gram J., Brusgaard K. Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets. J Hum Genet 2012, 57:453458.
-
(2012)
J Hum Genet
, vol.57
, pp. 453458
-
-
Beck-Nielsen, S.S.1
Brixen, K.2
Gram, J.3
Brusgaard, K.4
-
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., et al. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet 2010, 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
-
-
37549059576
-
Dentin matrix protein 1 (DMP1): new and important roles for biomineralization and phosphate homeostasis
-
Qin C., D'Souza R., Feng J.Q. Dentin matrix protein 1 (DMP1): new and important roles for biomineralization and phosphate homeostasis. J Dent Res 2007, 86:1134-1141.
-
(2007)
J Dent Res
, vol.86
, pp. 1134-1141
-
-
Qin, C.1
D'Souza, R.2
Feng, J.Q.3
-
13
-
-
0043287306
-
Nucleation of apatite crystals in vitro by self-assembled dentin matrix protein 1
-
He G., Dahl T., Veis A., George A. Nucleation of apatite crystals in vitro by self-assembled dentin matrix protein 1. Nat Mater 2003, 2:552-558.
-
(2003)
Nat Mater
, vol.2
, pp. 552-558
-
-
He, G.1
Dahl, T.2
Veis, A.3
George, A.4
-
14
-
-
84874923448
-
Dentin matrix protein 1 and phosphate homeostasis are critical for postnatal pulp, dentin and enamel formation
-
Rangiani A., Cao Z.G., Liu Y., Voisey Rodgers A., Jiang Y., Qin C.L., et al. Dentin matrix protein 1 and phosphate homeostasis are critical for postnatal pulp, dentin and enamel formation. Int J Oral Sci 2012, 4:189-195.
-
(2012)
Int J Oral Sci
, vol.4
, pp. 189-195
-
-
Rangiani, A.1
Cao, Z.G.2
Liu, Y.3
Voisey Rodgers, A.4
Jiang, Y.5
Qin, C.L.6
-
15
-
-
0035836652
-
Differentiation of embryonic mesenchymal cells to odontoblast-like cells by overexpression of dentin matrix protein 1
-
Narayanan K., Srinivas R., Ramachandran A., Hao J., Quinn B., George A. Differentiation of embryonic mesenchymal cells to odontoblast-like cells by overexpression of dentin matrix protein 1. Proc Natl Acad Sci U S A 2001, 98:4516-4521.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 4516-4521
-
-
Narayanan, K.1
Srinivas, R.2
Ramachandran, A.3
Hao, J.4
Quinn, B.5
George, A.6
-
16
-
-
33750485037
-
Bone talk
-
Schiavi S.C. Bone talk. Nat Genet 2006, 38:1230-1231.
-
(2006)
Nat Genet
, vol.38
, pp. 1230-1231
-
-
Schiavi, S.C.1
-
17
-
-
79851493370
-
Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets
-
Ruppe M.D., Brosnan P.G., Au K.S., Tran P.X., Dominguez B.W., Northrup H. Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets. Clin Endocrinol (Oxf) 2011, 74:312-318.
-
(2011)
Clin Endocrinol (Oxf)
, vol.74
, pp. 312-318
-
-
Ruppe, M.D.1
Brosnan, P.G.2
Au, K.S.3
Tran, P.X.4
Dominguez, B.W.5
Northrup, H.6
-
18
-
-
77953453843
-
A new familial sclerosing bone dysplasia
-
Chouery E., Pangrazio A., Frattini A., Villa A., Van Wesenbeeck L., Piters E., et al. A new familial sclerosing bone dysplasia. J Bone Miner Res 2010, 25:676-680.
-
(2010)
J Bone Miner Res
, vol.25
, pp. 676-680
-
-
Chouery, E.1
Pangrazio, A.2
Frattini, A.3
Villa, A.4
Van Wesenbeeck, L.5
Piters, E.6
-
19
-
-
0017154802
-
Recessive hypophosphataemic rickets, and possible aetiology of the 'vitamin D-resistant' syndrome
-
Stamp T.C., Baker L.R. Recessive hypophosphataemic rickets, and possible aetiology of the 'vitamin D-resistant' syndrome. Arch Dis Child 1976, 51:360-365.
-
(1976)
Arch Dis Child
, vol.51
, pp. 360-365
-
-
Stamp, T.C.1
Baker, L.R.2
-
20
-
-
84878219688
-
Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification
-
Rafaelsen S.H., Raeder H., Fagerheim A.K., Knappskog P., Carpenter T.O., Johansson S., et al. Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. J Bone Miner Res 2013, 28:1378-1385.
-
(2013)
J Bone Miner Res
, vol.28
, pp. 1378-1385
-
-
Rafaelsen, S.H.1
Raeder, H.2
Fagerheim, A.K.3
Knappskog, P.4
Carpenter, T.O.5
Johansson, S.6
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