-
1
-
-
0018416379
-
Genetic heterogeneity in osteogenesis imperfecta
-
Sillence DO, Senn A, Danks DM (1979) Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16:101-116
-
(1979)
J Med Genet
, vol.16
, pp. 101-116
-
-
Sillence, D.O.1
Senn, A.2
Danks, D.M.3
-
2
-
-
0033848677
-
Type V osteogenesis imperfecta: A new form of brittle bone disease
-
Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, Lalic L, Glorieux DF, Fassier F, Bishop NJ (2000) Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res 15:1650-1658
-
(2000)
J Bone Miner Res
, vol.15
, pp. 1650-1658
-
-
Glorieux, F.H.1
Rauch, F.2
Plotkin, H.3
Ward, L.4
Travers, R.5
Roughley, P.6
Lalic, L.7
Glorieux, D.F.8
Fassier, F.9
Bishop, N.J.10
-
3
-
-
0036133709
-
Osteogenesis imperfecta type VI: A form of brittle bone disease with a mineralization defect
-
Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers R (2002) Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res 17:30-38
-
(2002)
J Bone Miner Res
, vol.17
, pp. 30-38
-
-
Glorieux, F.H.1
Ward, L.M.2
Rauch, F.3
Lalic, L.4
Roughley, P.J.5
Travers, R.6
-
4
-
-
0036317297
-
Osteogenesis imperfecta type VII: An autosomal recessive form of brittle bone disease
-
Ward LM, Rauch F, Travers R, Chabot G, Azouz EM, Lalic L, Roughley PJ, Glorieux FH (2002) Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone (NY) 31:12-18
-
(2002)
Bone (NY)
, vol.31
, pp. 12-18
-
-
Ward, L.M.1
Rauch, F.2
Travers, R.3
Chabot, G.4
Azouz, E.M.5
Lalic, L.6
Roughley, P.J.7
Glorieux, F.H.8
-
5
-
-
0025138995
-
Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2
-
Sykes B, Ogilvie D, Wordsworth P, Wallis G, Mathew C, et al (1990) Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. Am J Hum Genet 46:293-307
-
(1990)
Am J Hum Genet
, vol.46
, pp. 293-307
-
-
Sykes, B.1
Ogilvie, D.2
Wordsworth, P.3
Wallis, G.4
Mathew, C.5
-
6
-
-
0344412955
-
The interaction between Sillence type and BMD in osteogenesis imperfecta
-
Kok DJ, Uiterwaal CS, Van Dongen AJ, Kramer PP, Pruijs HE, Engelbert RH, Verbout AJ, Schweitzer DH, Sakkers RJ (2003) The interaction between Sillence type and BMD in osteogenesis imperfecta. Calcif Tissue Int 73:441-445
-
(2003)
Calcif Tissue Int
, vol.73
, pp. 441-445
-
-
Kok, D.J.1
Uiterwaal, C.S.2
Van Dongen, A.J.3
Kramer, P.P.4
Pruijs, H.E.5
Engelbert, R.H.6
Verbout, A.J.7
Schweitzer, D.H.8
Sakkers, R.J.9
-
7
-
-
0027235805
-
Serum concentrations of procollagen I C-terminal propeptide, osteocalcin and insulin-like growth factor-I in patients with nonlethal osteogenesis imperfecta
-
Brenner RE, Schiller B, Vetter U, Ittner J, Teller WM (1993) Serum concentrations of procollagen I C-terminal propeptide, osteocalcin and insulin-like growth factor-I in patients with nonlethal osteogenesis imperfecta. Acta Paediatr 82:764-767
-
(1993)
Acta Paediatr
, vol.82
, pp. 764-767
-
-
Brenner, R.E.1
Schiller, B.2
Vetter, U.3
Ittner, J.4
Teller, W.M.5
-
8
-
-
2942525923
-
Bone turnover markers in patients with osteogenesis imperfecta
-
Braga V, Gatti D, Rossini M, Colapietro F, Battaglia E, Viapiana O, Adami S (2004) Bone turnover markers in patients with osteogenesis imperfecta. Bone (NY) 34:1013-1016
-
(2004)
Bone (NY)
, vol.34
, pp. 1013-1016
-
-
Braga, V.1
Gatti, D.2
Rossini, M.3
Colapietro, F.4
Battaglia, E.5
Viapiana, O.6
Adami, S.7
-
9
-
-
0031733390
-
Collagen-derived markers of bone metabolism in osteogenesis imperfecta
-
Lund AM, Hansen M, Kollerup G, Juul A, Teisner B, Skovby F (1998) Collagen-derived markers of bone metabolism in osteogenesis imperfecta. Acta Paediatr 87:1131-1137
-
(1998)
Acta Paediatr
, vol.87
, pp. 1131-1137
-
-
Lund, A.M.1
Hansen, M.2
Kollerup, G.3
Juul, A.4
Teisner, B.5
Skovby, F.6
-
10
-
-
0031941142
-
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: Identification of common sequences of null-allele mutations
-
Korkko J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ (1998) Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. Am J Hum Genet 62: 98-110
-
(1998)
Am J Hum Genet
, vol.62
, pp. 98-110
-
-
Korkko, J.1
Ala-Kokko, L.2
De Paepe, A.3
Nuytinck, L.4
Earley, J.5
Prockop, D.J.6
-
11
-
-
0035344688
-
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV
-
Ward LM, Lalic L, Roughley PJ, Glorieux FH (2001) Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. Hum Mutat 17:434
-
(2001)
Hum Mutat
, vol.17
, pp. 434
-
-
Ward, L.M.1
Lalic, L.2
Roughley, P.J.3
Glorieux, F.H.4
-
12
-
-
0024421465
-
Osteogenesis imperfecta. the position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1 (I) chains of type I collagen determines the clinical phenotype
-
Starman BJ, Eyre D, Charbonneau H, Harrylock M, Weis MA, Weiss L, Graham JM Jr, Byers PH (1989) Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1 (I) chains of type I collagen determines the clinical phenotype. J Clin Invest 84:1206-1214
-
(1989)
J Clin Invest
, vol.84
, pp. 1206-1214
-
-
Starman, B.J.1
Eyre, D.2
Charbonneau, H.3
Harrylock, M.4
Weis, M.A.5
Weiss, L.6
Graham Jr., J.M.7
Byers, P.H.8
-
13
-
-
20944436377
-
Guidelines for the use of biochemical markers of bone turnover in osteoporosis (2004)
-
Nishizawa Y, Nakamura T, Ohta H, Kushida K, Gorai I, Shiraki M, Fukunaga M, Hosoi T, Miki T, Chaki O, Ichimura S, Nakatsuka K, Miura M (2005) Guidelines for the use of biochemical markers of bone turnover in osteoporosis (2004). J Bone Miner Metab 23:97-104
-
(2005)
J Bone Miner Metab
, vol.23
, pp. 97-104
-
-
Nishizawa, Y.1
Nakamura, T.2
Ohta, H.3
Kushida, K.4
Gorai, I.5
Shiraki, M.6
Fukunaga, M.7
Hosoi, T.8
Miki, T.9
Chaki, O.10
Ichimura, S.11
Nakatsuka, K.12
Miura, M.13
-
14
-
-
0031720576
-
Urinary markers of bone turnover in healthy children and adolescents: Age-related changes and effect of puberty
-
Mora S, Prinster C, Proverbio MC, Bellini A, de Poli SC, Weber G, Abbiati G, Chiumello G (1998) Urinary markers of bone turnover in healthy children and adolescents: age-related changes and effect of puberty. Calcif Tissue Int 63:369-374
-
(1998)
Calcif Tissue Int
, vol.63
, pp. 369-374
-
-
Mora, S.1
Prinster, C.2
Proverbio, M.C.3
Bellini, A.4
De Poli, S.C.5
Weber, G.6
Abbiati, G.7
Chiumello, G.8
-
15
-
-
0034141218
-
Collagen fragments in urine derived from bone resorption are highly racemized and isomerized: A biological clock of protein aging with clinical potential
-
pt3
-
Cloos PA, Fledelius C (2000) Collagen fragments in urine derived from bone resorption are highly racemized and isomerized: a biological clock of protein aging with clinical potential. Biochem J 345(pt 3):473-480
-
(2000)
Biochem J
, vol.345
, pp. 473-480
-
-
Cloos, P.A.1
Fledelius, C.2
-
16
-
-
0015296702
-
Urinary total hydroxyproline: Creatinine ratio
-
Wharton BA, Gough G, Williams A, Kitts S, Pennock CA (1972) Urinary total hydroxyproline: creatinine ratio. Range of normal, and clinical application in British children. Arch Dis Child 47: 74-79
-
(1972)
Range of Normal, and Clinical Application in British Children. Arch Dis Child
, vol.47
, pp. 74-79
-
-
Wharton, B.A.1
Gough, G.2
Williams, A.3
Kitts, S.4
Pennock, C.A.5
-
17
-
-
0029070340
-
Urinary pyridinoline and deoxypyridinoline in healthy children and in children with growth hormone deficiency
-
Fujimoto S, Kubo T, Tanaka H, Miura M, Seino Y (1995) Urinary pyridinoline and deoxypyridinoline in healthy children and in children with growth hormone deficiency. J Clin Endocrinol Metab 80:1922-1928
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 1922-1928
-
-
Fujimoto, S.1
Kubo, T.2
Tanaka, H.3
Miura, M.4
Seino, Y.5
-
18
-
-
0028353834
-
Bone resorption rates in children monitored by the urinary assay of collagen type I cross-linked peptides
-
Bollen AM, Eyre DR (1994) Bone resorption rates in children monitored by the urinary assay of collagen type I cross-linked peptides. Bone (NY) 15:31-34
-
(1994)
Bone (NY)
, vol.15
, pp. 31-34
-
-
Bollen, A.M.1
Eyre, D.R.2
-
19
-
-
0031893775
-
Differences in bone resorption after menopause in Japanese women with normal or low bone mineral density: Quantitation of urinary cross-linked N-telopeptides
-
Taguchi Y, Gorai I, Zhang MG, Chaki O, Nakayama M, Minaguchi H (1998) Differences in bone resorption after menopause in Japanese women with normal or low bone mineral density: quantitation of urinary cross-linked N-telopeptides. Calcif Tissue Int 62:395-399
-
(1998)
Calcif Tissue Int
, vol.62
, pp. 395-399
-
-
Taguchi, Y.1
Gorai, I.2
Zhang, M.G.3
Chaki, O.4
Nakayama, M.5
Minaguchi, H.6
-
20
-
-
0028111183
-
Assessment of bone resorption with a new marker of collagen degradation in patients with metabolic bone disease
-
Garnero P, Gineyts E, Riou JP, Delmas PD (1994) Assessment of bone resorption with a new marker of collagen degradation in patients with metabolic bone disease. J Clin Endocrinol Metab 79:780-785
-
(1994)
J Clin Endocrinol Metab
, vol.79
, pp. 780-785
-
-
Garnero, P.1
Gineyts, E.2
Riou, J.P.3
Delmas, P.D.4
-
21
-
-
0026676875
-
A specific immunoassay for monitoring human bone resorption: Quantitation of type I collagen cross-linked Ntelopeptides in urine
-
Hanson DA, Weis MA, Bollen AM, Maslan SL, Singer FR, Eyre DR (1992) A specific immunoassay for monitoring human bone resorption: quantitation of type I collagen cross-linked Ntelopeptides in urine. J Bone Miner Res 7:1251-1258
-
(1992)
J Bone Miner Res
, vol.7
, pp. 1251-1258
-
-
Hanson, D.A.1
Weis, M.A.2
Bollen, A.M.3
Maslan, S.L.4
Singer, F.R.5
Eyre, D.R.6
-
22
-
-
0028020132
-
Immunoassay for quantifying type I collagen degradation products in urine evaluated
-
Bonde M, Qvist P, Fledelius C, Riis BJ, Christiansen C (1994) Immunoassay for quantifying type I collagen degradation products in urine evaluated. Clin Chem 40:2022-2025
-
(1994)
Clin Chem
, vol.40
, pp. 2022-2025
-
-
Bonde, M.1
Qvist, P.2
Fledelius, C.3
Riis, B.J.4
Christiansen, C.5
-
23
-
-
0030999235
-
Characterization of urinary degradation products derived from type I collagen. Identification of a beta-isomerized Asp-Gly sequence within the C-terminal telopeptide (alpha 1) region
-
Fledelius C, Johnsen AH, Cloos PA, Bonde M, Qvist P (1997) Characterization of urinary degradation products derived from type I collagen. Identification of a beta-isomerized Asp-Gly sequence within the C-terminal telopeptide (alpha 1) region. J Biol Chem 272:9755-9763
-
(1997)
J Biol Chem
, vol.272
, pp. 9755-9763
-
-
Fledelius, C.1
Johnsen, A.H.2
Cloos, P.A.3
Bonde, M.4
Qvist, P.5
-
24
-
-
0034141745
-
Racemization and isomerization of type I collagen C-telopeptides in human bone and soft tissues: Assessment of tissue turnover
-
pt3
-
Gineyts E, Cloos PA, Borel O, Grimaud L, Delmas PD, Garnero P (2000) Racemization and isomerization of type I collagen C-telopeptides in human bone and soft tissues: assessment of tissue turnover. Biochem J 345(pt 3):481-485
-
(2000)
Biochem J
, vol.345
, pp. 481-485
-
-
Gineyts, E.1
Cloos, P.A.2
Borel, O.3
Grimaud, L.4
Delmas, P.D.5
Garnero, P.6
-
25
-
-
9644303423
-
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
-
Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, Bonafe L (2004) Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet A 131:115-120
-
(2004)
Am J Med Genet a
, vol.131
, pp. 115-120
-
-
Ha-Vinh, R.1
Alanay, Y.2
Bank, R.A.3
Campos-Xavier, A.B.4
Zankl, A.5
Superti-Furga, A.6
Bonafe, L.7
-
26
-
-
0034048541
-
Pyridinium cross-links in bone of patients with osteogenesis imperfecta: Evidence of a normal intrafibrillar collagen packing
-
Bank RA, Tekoppele JM, Janus GJ, Wassen MH, Pruijs HE, Van der Sluijs HA, Sakkers RJ (2000) Pyridinium cross-links in bone of patients with osteogenesis imperfecta: evidence of a normal intrafibrillar collagen packing. J Bone Miner Res 15:1330-1336
-
(2000)
J Bone Miner Res
, vol.15
, pp. 1330-1336
-
-
Bank, R.A.1
Tekoppele, J.M.2
Janus, G.J.3
Wassen, M.H.4
Pruijs, H.E.5
Van Der Sluijs, H.A.6
Sakkers, R.J.7
-
27
-
-
15444370111
-
Collagen overglycosylation: A biochemical feature that may contribute to bone quality
-
Dominguez LJ, Barbagallo M, Moro L (2005) Collagen overglycosylation: a biochemical feature that may contribute to bone quality. Biochem Biophys Res Commun 330:1-4
-
(2005)
Biochem Biophys Res Commun
, vol.330
, pp. 1-4
-
-
Dominguez, L.J.1
Barbagallo, M.2
Moro, L.3
|