-
2
-
-
0025181430
-
Infantile hypophosphatasia: Localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers
-
Greenberg CR, Evans JA, McKendry-Smith S, Redekopp S, Haworth JC, Mulivor R, Chodirker BN (1990) Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. Am J Hum Genet 46:286-292
-
(1990)
Am J Hum Genet
, vol.46
, pp. 286-292
-
-
Greenberg, C.R.1
Evans, J.A.2
McKendry-Smith, S.3
Redekopp, S.4
Haworth, J.C.5
Mulivor, R.6
Chodirker, B.N.7
-
3
-
-
0026713191
-
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia
-
Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP (1992) Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Natl Acad Sci USA 89:9924-9928
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 9924-9928
-
-
Henthorn, P.S.1
Raducha, M.2
Fedde, K.N.3
Lafferty, M.A.4
Whyte, M.P.5
-
4
-
-
0027062860
-
Missense mutations of the tissuenonspecific alkaline phosphatase gene in hypophosphatasia
-
Henthorn PS, Whyte MP (1992) Missense mutations of the tissuenonspecific alkaline phosphatase gene in hypophosphatasia. Clin Chem 38:2501-2505
-
(1992)
Clin Chem
, vol.38
, pp. 2501-2505
-
-
Henthorn, P.S.1
Whyte, M.P.2
-
5
-
-
0025265856
-
Infantile hypophosphatasia: Autosomal recessive transmission to two related sibships
-
Moore CA, Ward JC, Rivas ML, Magill HL, Whyte MP (1990) Infantile hypophosphatasia: autosomal recessive transmission to two related sibships. Am J Med Genet 36:15-22
-
(1990)
Am J Med Genet
, vol.36
, pp. 15-22
-
-
Moore, C.A.1
Ward, J.C.2
Rivas, M.L.3
Magill, H.L.4
Whyte, M.P.5
-
6
-
-
0031172625
-
Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification
-
Orimo H, Goseki-Sone M, Sato S, Shimada T (1997) Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification. Genomics 42:364-366
-
(1997)
Genomics
, vol.42
, pp. 364-366
-
-
Orimo, H.1
Goseki-Sone, M.2
Sato, S.3
Shimada, T.4
-
7
-
-
0028024690
-
Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia
-
Orimo H, Hayashi Z, Watanabe A, Hirayama T, Hirayama T, Shimada T (1994) Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. Hum Mol Genet 3:1683-1684
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1683-1684
-
-
Orimo, H.1
Hayashi, Z.2
Watanabe, A.3
Hirayama, T.4
Hirayama, T.5
Shimada, T.6
-
8
-
-
67649868096
-
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles
-
Fauvert D, Brun-Heath I, Lia-Baldini AS, Bellazi L, Taillandier A, Serre JL, de Mazancourt P, Mornet E (2009) Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med Genet 10:51
-
(2009)
BMC Med Genet
, vol.10
, pp. 51
-
-
Fauvert, D.1
Brun-Heath, I.2
Lia-Baldini, A.S.3
Bellazi, L.4
Taillandier, A.5
Serre, J.L.6
De Mazancourt, P.7
Mornet, E.8
-
9
-
-
68949100637
-
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia
-
Whyte MP, Wenkert D, McAlister WH, Mughal MZ, Freemont AJ, Whitehouse R, Baildam EM, Coburn SP, Ryan LM, Mumm S (2009) Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. J Bone Miner Res 24:1493-1505
-
(2009)
J Bone Miner Res
, vol.24
, pp. 1493-1505
-
-
Whyte, M.P.1
Wenkert, D.2
McAlister, W.H.3
Mughal, M.Z.4
Freemont, A.J.5
Whitehouse, R.6
Baildam, E.M.7
Coburn, S.P.8
Ryan, L.M.9
Mumm, S.10
-
10
-
-
0025346985
-
Heritable metabolic and dysplastic bone diseases
-
Whyte MP (1990) Heritable metabolic and dysplastic bone diseases. Endocrinol Metab Clin North Am 19:133-173
-
(1990)
Endocrinol Metab Clin North Am
, vol.19
, pp. 133-173
-
-
Whyte, M.P.1
-
11
-
-
38949138426
-
A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene
-
Brun-Heath I, Chabrol E, Fox M, Drexler K, Petit C, Taillandier A, De Mazancourt P, Serre JL, Mornet E (2008) A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene. Clin Genet 73:245-250
-
(2008)
Clin Genet
, vol.73
, pp. 245-250
-
-
Brun-Heath, I.1
Chabrol, E.2
Fox, M.3
Drexler, K.4
Petit, C.5
Taillandier, A.6
De Mazancourt, P.7
Serre, J.L.8
Mornet, E.9
-
12
-
-
28244446967
-
Neonatal hypophosphatasia and seizures. A case report
-
Smilari P, Romeo DM, Palazzo P, Meli C, Sorge G (2005) Neonatal hypophosphatasia and seizures. A case report. Minerva Pediatr 57:319-323
-
(2005)
Minerva Pediatr
, vol.57
, pp. 319-323
-
-
Smilari, P.1
Romeo, D.M.2
Palazzo, P.3
Meli, C.4
Sorge, G.5
-
13
-
-
0001594259
-
Hypophosphatasia
-
Scriver CR, Beaudet AL, Sly WS, Valle D eds, McGraw-Hill, New York
-
Whyte MP (1995) Hypophosphatasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 4095-4112
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 4095-4112
-
-
Whyte, M.P.1
-
14
-
-
0027930471
-
Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization
-
Whyte MP (1994) Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev 15:439-461
-
(1994)
Endocr Rev
, vol.15
, pp. 439-461
-
-
Whyte, M.P.1
-
15
-
-
0022968773
-
Management of femoral fractures and pseudofractures in adult hypophosphatasia
-
Coe JD, Murphy WA, Whyte MP (1986) Management of femoral fractures and pseudofractures in adult hypophosphatasia. J Bone Joint Surg Am 68:981-990
-
(1986)
J Bone Joint Surg Am
, vol.68
, pp. 981-990
-
-
Coe, J.D.1
Murphy, W.A.2
Whyte, M.P.3
-
16
-
-
43349102402
-
Case report: Multiple fractures in a patient with mutations of TWIST1 and TNSALP
-
Barvencik F, Gebauer M, Schinke T, Amling M (2008) Case report: multiple fractures in a patient with mutations of TWIST1 and TNSALP. Clin Orthop Relat Res 466:990-996
-
(2008)
Clin Orthop Relat Res
, vol.466
, pp. 990-996
-
-
Barvencik, F.1
Gebauer, M.2
Schinke, T.3
Amling, M.4
-
17
-
-
62149124063
-
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia
-
Reibel A, Maniere MC, Clauss F, Droz D, Alembik Y, Mornet E, Bloch-Zupan A (2009) Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. Orphanet J Rare Dis 4:6
-
(2009)
Orphanet J Rare Dis
, vol.4
, pp. 6
-
-
Reibel, A.1
Maniere, M.C.2
Clauss, F.3
Droz, D.4
Alembik, Y.5
Mornet, E.6
Bloch-Zupan, A.7
-
18
-
-
66349093964
-
Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia
-
Whyte MP (2009) Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res 24:1132-1134
-
(2009)
J Bone Miner Res
, vol.24
, pp. 1132-1134
-
-
Whyte, M.P.1
-
21
-
-
0021324071
-
Hypophosphatasia: Clinicopathologic comparison of the infantile, childhood, and adult forms
-
Fallon MD, Teitelbaum SL, Weinstein RS, Goldfischer S, Brown DM, Whyte MP (1984) Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. Medicine (Baltimore) 63:12-24
-
(1984)
Medicine (Baltimore)
, vol.63
, pp. 12-24
-
-
Fallon, M.D.1
Teitelbaum, S.L.2
Weinstein, R.S.3
Goldfischer, S.4
Brown, D.M.5
Whyte, M.P.6
-
23
-
-
0022381584
-
Histologic and ultrastructural studies on the mineralization process in hypophosphatasia
-
Ornoy A, Adomian GE, Rimoin DL (1985) Histologic and ultrastructural studies on the mineralization process in hypophosphatasia. Am J Med Genet 22:743-758
-
(1985)
Am J Med Genet
, vol.22
, pp. 743-758
-
-
Ornoy, A.1
Adomian, G.E.2
Rimoin, D.L.3
-
24
-
-
0020071636
-
Hypophosphatasia congenita letalis
-
Wolff C, Zabransky S (1982) Hypophosphatasia congenita letalis. Eur J Pediatr 138:197-199
-
(1982)
Eur J Pediatr
, vol.138
, pp. 197-199
-
-
Wolff, C.1
Zabransky, S.2
-
25
-
-
0030696783
-
Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals
-
Anderson HC, Hsu HH, Morris DC, Fedde KN, Whyte MP (1997) Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals. Am J Pathol 151:1555-1561
-
(1997)
Am J Pathol
, vol.151
, pp. 1555-1561
-
-
Anderson, H.C.1
Hsu, H.H.2
Morris, D.C.3
Fedde, K.N.4
Whyte, M.P.5
-
26
-
-
0000791302
-
Hypophosphatasia
-
Bilezikian JP, Raisz LG, Roda GA eds, 2nd edn. Academic, San Diego
-
Whyte MP (2002) Hypophosphatasia. In: Bilezikian JP, Raisz LG, Roda GA (eds) Principles of bone biology, 2nd edn. Academic, San Diego, pp 1129-1248
-
(2002)
Principles of Bone Biology
, pp. 1129-1248
-
-
Whyte, M.P.1
-
27
-
-
0023488581
-
Bone histomorphometry: Standardization of nomenclature, symbols, and units. Report of the ASBMR Histomorphometry Nomenclature Committee
-
Parfitt AM, Drezner MK, Glorieux FH, Kanis JA, Malluche H, Meunier PJ, Ott SM, Recker RR (1987) Bone histomorphometry: standardization of nomenclature, symbols, and units. Report of the ASBMR Histomorphometry Nomenclature Committee. J Bone Miner Res 2:595-610
-
(1987)
J Bone Miner Res
, vol.2
, pp. 595-610
-
-
Parfitt, A.M.1
Drezner, M.K.2
Glorieux, F.H.3
Kanis, J.A.4
Malluche, H.5
Meunier, P.J.6
Ott, S.M.7
Recker, R.R.8
-
28
-
-
0015468154
-
Quantitative histology of metabolic bone disease
-
Bordier P (1972) Quantitative histology of metabolic bone disease. J Clin Endocrinol Metab 1:197-215
-
(1972)
J Clin Endocrinol Metab
, vol.1
, pp. 197-215
-
-
Bordier, P.1
-
29
-
-
0028656490
-
The microarchitecture of the axis as the predisposing factor for fracture of the base of the odontoid process. A histomorphometric analysis of twenty-two autopsy specimens
-
Amling M, Hahn M, Wening VJ, Grote HJ, Delling G (1994) The microarchitecture of the axis as the predisposing factor for fracture of the base of the odontoid process. A histomorphometric analysis of twenty-two autopsy specimens. J Bone Joint Surg Am 76:1840-1846
-
(1994)
J Bone Joint Surg Am
, vol.76
, pp. 1840-1846
-
-
Amling, M.1
Hahn, M.2
Wening, V.J.3
Grote, H.J.4
Delling, G.5
-
30
-
-
0028650369
-
Polyostotic heterogeneity of the spine in osteoporosis. Quantitative analysis and three-dimensional morphology
-
Amling M, Grote HJ, Posl M, Hahn M, Delling G (1994) Polyostotic heterogeneity of the spine in osteoporosis. Quantitative analysis and three-dimensional morphology. Bone Miner 27:193-208
-
(1994)
Bone Miner
, vol.27
, pp. 193-208
-
-
Amling, M.1
Grote, H.J.2
Posl, M.3
Hahn, M.4
Delling, G.5
-
31
-
-
0030051521
-
Heterogeneity of the skeleton: Comparison of the trabecular microarchitecture of the spine, the iliac crest, the femur, and the calcaneus
-
Amling M, Herden S, Posl M, Hahn M, Ritzel H, Delling G (1996) Heterogeneity of the skeleton: comparison of the trabecular microarchitecture of the spine, the iliac crest, the femur, and the calcaneus. J Bone Miner Res 11:36-45
-
(1996)
J Bone Miner Res
, vol.11
, pp. 36-45
-
-
Amling, M.1
Herden, S.2
Posl, M.3
Hahn, M.4
Ritzel, H.5
Delling, G.6
-
32
-
-
0033303655
-
Rescue of the skeletal phenotype of vitamin D receptor-ablated mice in the setting of normal mineral ion homeostasis: Formal histomorphometric and biomechanical analyses
-
Amling M, Priemel M, Holzmann T, Chapin K, Rueger JM, Baron R, Demay MB (1999) Rescue of the skeletal phenotype of vitamin D receptor-ablated mice in the setting of normal mineral ion homeostasis: formal histomorphometric and biomechanical analyses. Endocrinology 140:4982-4987
-
(1999)
Endocrinology
, vol.140
, pp. 4982-4987
-
-
Amling, M.1
Priemel, M.2
Holzmann, T.3
Chapin, K.4
Rueger, J.M.5
Baron, R.6
Demay, M.B.7
-
33
-
-
0032900332
-
The microscopic structure of bone in normal children and patients with osteogenesis imperfecta: A survey using backscattered electron imaging
-
Jones SJ, Glorieux FH, Travers R, Boyde A (1999) The microscopic structure of bone in normal children and patients with osteogenesis imperfecta: a survey using backscattered electron imaging. Calcif Tissue Int 64:8-17
-
(1999)
Calcif Tissue Int
, vol.64
, pp. 8-17
-
-
Jones, S.J.1
Glorieux, F.H.2
Travers, R.3
Boyde, A.4
-
34
-
-
0028882234
-
A new scanning electron microscopy approach to the quantification of bone mineral distribution: Backscattered electron image greylevels correlated to calcium K alpha-line intensities
-
Roschger P, Plenk HJ, Klaushofer K, Eschberger J (1995) A new scanning electron microscopy approach to the quantification of bone mineral distribution: backscattered electron image greylevels correlated to calcium K alpha-line intensities. Scan Microsc 9:75-86
-
(1995)
Scan Microsc
, vol.9
, pp. 75-86
-
-
Roschger, P.1
Plenk, H.J.2
Klaushofer, K.3
Eschberger, J.4
-
35
-
-
39149107458
-
Bone mineralization density distribution in health and disease
-
Roschger P, Paschalis EP, Fratzl P, Klaushofer K (2008) Bone mineralization density distribution in health and disease. Bone 42:456-466
-
(2008)
Bone
, vol.42
, pp. 456-466
-
-
Roschger, P.1
Paschalis, E.P.2
Fratzl, P.3
Klaushofer, K.4
-
36
-
-
0027398456
-
Influence of mineral content and composition on graylevels in backscattered electron images of bone
-
Skedros JG, Bloebaum RD, Bachus KN, Boyce TM, Constantz B (1993) Influence of mineral content and composition on graylevels in backscattered electron images of bone. J Biomed Mater Res 27:57-64
-
(1993)
J Biomed Mater Res
, vol.27
, pp. 57-64
-
-
Skedros, J.G.1
Bloebaum, R.D.2
Bachus, K.N.3
Boyce, T.M.4
Constantz, B.5
-
37
-
-
0022928247
-
Scanning electron microscopy in bone pathology: Review of methods, potential and applications
-
Boyde A, Maconnachie E, Reid SA, Delling G, Mundy GR (1986) Scanning electron microscopy in bone pathology: review of methods, potential and applications. Scan Electron Microsc 1537-1554
-
(1986)
Scan Electron Microsc
, pp. 1537-1554
-
-
Boyde, A.1
Maconnachie, E.2
Reid, S.A.3
Delling, G.4
Mundy, G.R.5
-
38
-
-
0032971847
-
The mineralization density of iliac crest bone from children with osteogenesis imperfecta
-
Boyde A, Travers R, Glorieux FH, Jones SJ (1999) The mineralization density of iliac crest bone from children with osteogenesis imperfecta. Calcif Tissue Int 64:185-190
-
(1999)
Calcif Tissue Int
, vol.64
, pp. 185-190
-
-
Boyde, A.1
Travers, R.2
Glorieux, F.H.3
Jones, S.J.4
-
39
-
-
17644445505
-
Validation of quantitative backscattered electron imaging for the measurement of mineral density distribution in human bone biopsies
-
Roschger P, Fratzl P, Eschberger J, Klaushofer K (1998) Validation of quantitative backscattered electron imaging for the measurement of mineral density distribution in human bone biopsies. Bone 23:319-326
-
(1998)
Bone
, vol.23
, pp. 319-326
-
-
Roschger, P.1
Fratzl, P.2
Eschberger, J.3
Klaushofer, K.4
-
40
-
-
0027068097
-
Bone resorption and formation on the periosteal envelope of the ilium: A histomorphometric study in healthy women
-
Balena R, Shih MS, Parfitt AM (1992) Bone resorption and formation on the periosteal envelope of the ilium: a histomorphometric study in healthy women. J Bone Miner Res 7:1475-1482
-
(1992)
J Bone Miner Res
, vol.7
, pp. 1475-1482
-
-
Balena, R.1
Shih, M.S.2
Parfitt, A.M.3
-
41
-
-
77953443605
-
Bone mineralization defects and vitamin D deficiency: Histomorphometric analysis of iliac crest bone biopsies and circulating 25-hydroxyvitamin D in 675 patients
-
Priemel M, von Domarus C, Klatte TO, Kessler S, Schlie J, Meier S, Proksch N, Pastor F, Netter C, Streichert T, Püschel K, Amling M (2010) Bone mineralization defects and vitamin D deficiency: histomorphometric analysis of iliac crest bone biopsies and circulating 25-hydroxyvitamin D in 675 patients. J Bone Miner Res 25:305-312
-
(2010)
J Bone Miner Res
, vol.25
, pp. 305-312
-
-
Priemel, M.1
Von Domarus, C.2
Klatte, T.O.3
Kessler, S.4
Schlie, J.5
Meier, S.6
Proksch, N.7
Pastor, F.8
Netter, C.9
Streichert, T.10
Püschel, K.11
Amling, M.12
-
42
-
-
39749113799
-
Vitamin D-resistant diseases
-
Liberman UA (2007) Vitamin D-resistant diseases. J Bone Miner Res Suppl 2:105-107
-
(2007)
J Bone Miner Res Suppl
, vol.2
, pp. 105-107
-
-
Liberman, U.A.1
-
43
-
-
33750996140
-
Vitamin D receptor defects: The storyof hereditaryresistance to vitamin D
-
Koren R (2006) Vitamin D receptor defects: the storyof hereditaryresistance to vitamin D. Pediatr Endocrinol Rev Suppl 3:470-475
-
(2006)
Pediatr Endocrinol Rev Suppl
, vol.3
, pp. 470-475
-
-
Koren, R.1
-
44
-
-
79952111841
-
Phenotype presentation of hypophosphatemic rickets in adults
-
Beck-Nielsen SS, Brusgaard K, Rasmussen LM, Brixen K, Brock-Jacobsen B, Poulsen MR, Vestergaard P, Ralston SH, Albagha OM, Poulsen S, Haubek D, Gjørup H, Hintze H, Andersen MG, Heickendorff L, Hjelmborg J, Gram J (2010) Phenotype presentation of hypophosphatemic rickets in adults. Calcif Tissue Int 87:108-119
-
(2010)
Calcif Tissue Int
, vol.87
, pp. 108-119
-
-
Beck-Nielsen, S.S.1
Brusgaard, K.2
Rasmussen, L.M.3
Brixen, K.4
Brock-Jacobsen, B.5
Poulsen, M.R.6
Vestergaard, P.7
Ralston, S.H.8
Albagha, O.M.9
Poulsen, S.10
Haubek, D.11
Gjørup, H.12
Hintze, H.13
Andersen, M.G.14
Heickendorff, L.15
Hjelmborg, J.16
Gram, J.17
-
45
-
-
77951626687
-
Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations
-
Imel EA, DiMeglio LA, Hui SL, Carpenter TO, Econs MJ (2010) Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations. J Clin Endocrinol Metab 95:1846-1850
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 1846-1850
-
-
Imel, E.A.1
DiMeglio, L.A.2
Hui, S.L.3
Carpenter, T.O.4
Econs, M.J.5
|