-
1
-
-
15244338811
-
Cardiac abnormalities in Fabry disease: Natural history in hemizygote males suggests that cardiac pathology is universally present
-
G Altarescu D Elstein 2004 Cardiac abnormalities in Fabry disease: natural history in hemizygote males suggests that cardiac pathology is universally present Haema 8 103 108
-
(2004)
Haema
, vol.8
, pp. 103-108
-
-
Altarescu, G.1
Elstein, D.2
-
2
-
-
33646691525
-
Increased carotid intima-media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease
-
F Barbey N Brakch A Linhart X Jeanrenaud T Palecek J Bultas M Burnier D Hayoz 2006 Increased carotid intima-media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease Acta Paediatr Suppl 95 63 68
-
(2006)
Acta Paediatr Suppl
, vol.95
, pp. 63-68
-
-
Barbey, F.1
Brakch, N.2
Linhart, A.3
Jeanrenaud, X.4
Palecek, T.5
Bultas, J.6
Burnier, M.7
Hayoz, D.8
-
3
-
-
33646680506
-
Cardiac and vascular hypertrophy in Fabry disease: Evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition
-
F Barbey N Brakch A Linhart N Rosenblatt-Velin X Jeanrenaud S Qanadli B Steinmann M Burnier T Palecek J Bultas D Hayoz 2006 Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition Arterioscler Thromb Vasc Biol 26 839 844
-
(2006)
Arterioscler Thromb Vasc Biol
, vol.26
, pp. 839-844
-
-
Barbey, F.1
Brakch, N.2
Linhart, A.3
Rosenblatt-Velin, N.4
Jeanrenaud, X.5
Qanadli, S.6
Steinmann, B.7
Burnier, M.8
Palecek, T.9
Bultas, J.10
Hayoz, D.11
-
4
-
-
0034746516
-
ApaI polymorphisms of the vitamin D receptor predict bone density of the lumbar spine and not racial difference in bone density in young men
-
NH Bell NA Morrison TV Nguyen J Eisman BW Hollis 2001 ApaI polymorphisms of the vitamin D receptor predict bone density of the lumbar spine and not racial difference in bone density in young men J Lab Clin Med 137 133 140
-
(2001)
J Lab Clin Med
, vol.137
, pp. 133-140
-
-
Bell, N.H.1
Morrison, N.A.2
Nguyen, T.V.3
Eisman, J.4
Hollis, B.W.5
-
7
-
-
0019363054
-
Advances in the treatment of inherited metabolic diseases
-
RJ Desnick GA Grabowski 1981 Advances in the treatment of inherited metabolic diseases Adv Hum Genet 11 281 369
-
(1981)
Adv Hum Genet
, vol.11
, pp. 281-369
-
-
Desnick, R.J.1
Grabowski, G.A.2
-
8
-
-
0025049304
-
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy
-
Elleder M, Bradova V, Smid F, Budesinsky M, Harzer K, Kustermann-Kuhn B, Ledvinova J, Belohlavek, Kral V, Dorazilova V (1990) Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol 417:449-455
-
(1990)
Virchows Arch A Pathol Anat Histopathol
, vol.417
, pp. 449-455
-
-
Elleder, M.1
Bradova, V.2
Smid, F.3
Budesinsky, M.4
Harzer, K.5
Kustermann-Kuhn, B.6
Ledvinova, J.7
Belohlavek8
Kral, V.9
Dorazilova, V.10
-
9
-
-
18744409798
-
Vitamin D receptor gene polymorphisms, particularly the novel A-1012G promoter polymorphism, are associated with vitamin D3 responsiveness and non-familial susceptibility in psoriasis
-
JA Halsall JE Osborne JH Pringle PE Hutchinson 2005 Vitamin D receptor gene polymorphisms, particularly the novel A-1012G promoter polymorphism, are associated with vitamin D3 responsiveness and non-familial susceptibility in psoriasis Pharmacogenet Genomics 15 349 355
-
(2005)
Pharmacogenet Genomics
, vol.15
, pp. 349-355
-
-
Halsall, J.A.1
Osborne, J.E.2
Pringle, J.H.3
Hutchinson, P.E.4
-
10
-
-
0030903705
-
The vitamin D receptor start codon polymorphism (FokI) and bone mineral density in premenopausal American black and white women
-
SS Harris TR Eccleshall C Gross B Dawson-Hughes D Feldman 1997 The vitamin D receptor start codon polymorphism (FokI) and bone mineral density in premenopausal American black and white women J Bone Miner Res 12 1043 1048
-
(1997)
J Bone Miner Res
, vol.12
, pp. 1043-1048
-
-
Harris, S.S.1
Eccleshall, T.R.2
Gross, C.3
Dawson-Hughes, B.4
Feldman, D.5
-
11
-
-
33748712030
-
Structural and functional changes in peripheral vasculature of Fabry patients
-
RJ Kalliokoski KK Kalliokoski M Penttinen I Kantola A Leino JS Viikari O Simell P Nuutila OT Raitakari 2006 Structural and functional changes in peripheral vasculature of Fabry patients J Inherit Metab Dis 29 660 666
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 660-666
-
-
Kalliokoski, R.J.1
Kalliokoski, K.K.2
Penttinen, M.3
Kantola, I.4
Leino, A.5
Viikari, J.S.6
Simell, O.7
Nuutila, P.8
Raitakari, O.T.9
-
12
-
-
11244260739
-
Bone mineral density, carotid artery intimal medial thickness, and the vitamin D receptor BsmI polymorphism in Mexican American women
-
CM Kammerer AA Dualan PB Samollow AR Perisse RL Bauer JW MacCluer DH O'Leary BD Mitchell 2004 Bone mineral density, carotid artery intimal medial thickness, and the vitamin D receptor BsmI polymorphism in Mexican American women Calcif Tissue Int 75 292 298
-
(2004)
Calcif Tissue Int
, vol.75
, pp. 292-298
-
-
Kammerer, C.M.1
Dualan, A.A.2
Samollow, P.B.3
Perisse, A.R.4
Bauer, R.L.5
MacCluer, J.W.6
O'Leary, D.H.7
Mitchell, B.D.8
-
13
-
-
0037032275
-
Cardiac manifestations of Anderson-Fabry disease in heterozygous females
-
C Kampmann F Baehner C Whybra C Martin CM Wiethoff M Ries A Gal M Beck 2002 Cardiac manifestations of Anderson-Fabry disease in heterozygous females J Am Coll Cardiol 40 1668 1674
-
(2002)
J Am Coll Cardiol
, vol.40
, pp. 1668-1674
-
-
Kampmann, C.1
Baehner, F.2
Whybra, C.3
Martin, C.4
Wiethoff, C.M.5
Ries, M.6
Gal, A.7
Beck, M.8
-
14
-
-
0029662320
-
Vitamin D3 exacerbates intimal hyperplasia in balloon-injured arteries
-
MD Lamawansa SJ Wysocki AK House PE Norman 1996 Vitamin D3 exacerbates intimal hyperplasia in balloon-injured arteries Br J Surg 83 1101 1103
-
(1996)
Br J Surg
, vol.83
, pp. 1101-1103
-
-
Lamawansa, M.D.1
Wysocki, S.J.2
House, A.K.3
Norman, P.E.4
-
15
-
-
33947676900
-
A prospective study of plasma vitamin D metabolites, vitamin D receptor polymorphisms, and prostate cancer
-
H Li MJ Stampfer JB Hollis LA Mucci JM Gaziano D Hunter EL Giovannucci J Ma 2007 A prospective study of plasma vitamin D metabolites, vitamin D receptor polymorphisms, and prostate cancer PLoS Med 4 e103
-
(2007)
PLoS Med
, vol.4
, pp. 103
-
-
Li, H.1
Stampfer, M.J.2
Hollis, J.B.3
Mucci, L.A.4
Gaziano, J.M.5
Hunter, D.6
Giovannucci, E.L.7
Ma, J.8
-
16
-
-
0343618421
-
New insights in cardiac structural changes in patients with Fabry's disease
-
A Linhart T Palecek J Bultas JJ Ferguson J Hrudova D Karetova J Zeman J Ledvinova H Poupetova M Elleder M Aschermann 2000 New insights in cardiac structural changes in patients with Fabry's disease Am Heart J 139 1101 1108
-
(2000)
Am Heart J
, vol.139
, pp. 1101-1108
-
-
Linhart, A.1
Palecek, T.2
Bultas, J.3
Ferguson, J.J.4
Hrudova, J.5
Karetova, D.6
Zeman, J.7
Ledvinova, J.8
Poupetova, H.9
Elleder, M.10
Aschermann, M.11
-
17
-
-
20144371261
-
A survey of haplotype variants at several disease candidate genes: The importance of rare variants for complex diseases
-
PY Liu YY Zhang Y Lu JR Long H Shen LJ Zhao FH Xu P Xiao DH Xiong YJ Liu RR Recker HW Deng 2005 A survey of haplotype variants at several disease candidate genes: the importance of rare variants for complex diseases J Med Genet. 42 221 227
-
(2005)
J Med Genet.
, vol.42
, pp. 221-227
-
-
Liu, P.Y.1
Zhang, Y.Y.2
Lu, Y.3
Long, J.R.4
Shen, H.5
Zhao, L.J.6
Xu, F.H.7
Xiao, P.8
Xiong, D.H.9
Liu, Y.J.10
Recker, R.R.11
Deng, H.W.12
-
18
-
-
0031879784
-
Vitamin D receptor polymorphisms, circulating vitamin D metabolites, and risk of prostate cancer in United States physicians
-
J Ma MJ Stampfer PH Gann HL Hough E Giovannucci KT Kelsey CH Hennekens DJ Hunter 1998 Vitamin D receptor polymorphisms, circulating vitamin D metabolites, and risk of prostate cancer in United States physicians Cancer Epidemiol Biomarkers Prev 7 385 390
-
(1998)
Cancer Epidemiol Biomarkers Prev
, vol.7
, pp. 385-390
-
-
Ma, J.1
Stampfer, M.J.2
Gann, P.H.3
Hough, H.L.4
Giovannucci, E.5
Kelsey, K.T.6
Hennekens, C.H.7
Hunter, D.J.8
-
19
-
-
33646679166
-
Disease manifestations and X inactivation in heterozygous females with Fabry disease
-
EM Maier S Osterrieder C Whybra M Ries A Gal M Beck AA Roscher AC Muntau 2006 Disease manifestations and X inactivation in heterozygous females with Fabry disease Acta Paediatr Suppl 95 30 38
-
(2006)
Acta Paediatr Suppl
, vol.95
, pp. 30-38
-
-
Maier, E.M.1
Osterrieder, S.2
Whybra, C.3
Ries, M.4
Gal, A.5
Beck, M.6
Roscher, A.A.7
Muntau, A.C.8
-
20
-
-
0024334463
-
Identification and regulation of 1,25-dihydroxyvitamin D3 receptor activity and biosynthesis of 1,25-dihydroxyvitamin D3. Studies in cultured bovine aortic endothelial cells and human dermal capillaries
-
J Merke P Milde S Lewicka U Hugel G Klaus DJ Mangelsdorf MR Haussler EW Rauterberg E Ritz 1989 Identification and regulation of 1,25-dihydroxyvitamin D3 receptor activity and biosynthesis of 1,25-dihydroxyvitamin D3. Studies in cultured bovine aortic endothelial cells and human dermal capillaries J Clin Invest 83 1903 1915
-
(1989)
J Clin Invest
, vol.83
, pp. 1903-1915
-
-
Merke, J.1
Milde, P.2
Lewicka, S.3
Hugel, U.4
Klaus, G.5
Mangelsdorf, D.J.6
Haussler, M.R.7
Rauterberg, E.W.8
Ritz, E.9
-
22
-
-
0029023150
-
An atypical variant of Fabry's disease in men with left ventricular hypertrophy
-
S Nakao T Takenaka M Maeda C Kodama A Tanaka M Tahara A Yoshida M Kuriyama H Hayashibe H Sakuraba 1995 An atypical variant of Fabry's disease in men with left ventricular hypertrophy N Engl J Med 333 288 293
-
(1995)
N Engl J Med
, vol.333
, pp. 288-293
-
-
Nakao, S.1
Takenaka, T.2
Maeda, M.3
Kodama, C.4
Tanaka, A.5
Tahara, M.6
Yoshida, A.7
Kuriyama, M.8
Hayashibe, H.9
Sakuraba, H.10
-
23
-
-
0034969437
-
Are rare variants responsible for susceptibility to complex diseases?
-
JK Pritchard 2001 Are rare variants responsible for susceptibility to complex diseases? Am J Hum Gen 69 124 137
-
(2001)
Am J Hum Gen
, vol.69
, pp. 124-137
-
-
Pritchard, J.K.1
-
25
-
-
0027454768
-
Enhancement of vasoconstrictor response by a noncalcemic analogue of vitamin D3
-
T Shimosawa K Ando T Fujita 1993 Enhancement of vasoconstrictor response by a noncalcemic analogue of vitamin D3 Hypertension 21 253 258
-
(1993)
Hypertension
, vol.21
, pp. 253-258
-
-
Shimosawa, T.1
Ando, K.2
Fujita, T.3
-
26
-
-
0242691208
-
A comparison of bayesian methods for haplotype reconstruction from population genotype data
-
M Stephens P Donnelly 2003 A comparison of bayesian methods for haplotype reconstruction from population genotype data Am J Hum Gen 73 1162 1169
-
(2003)
Am J Hum Gen
, vol.73
, pp. 1162-1169
-
-
Stephens, M.1
Donnelly, P.2
-
27
-
-
0035071957
-
A new statistical method for haplotype reconstruction from population data
-
M Stephens NJ Smith P Donnelly 2001 A new statistical method for haplotype reconstruction from population data Am J Hum Gen 68 978 989
-
(2001)
Am J Hum Gen
, vol.68
, pp. 978-989
-
-
Stephens, M.1
Smith, N.J.2
Donnelly, P.3
-
28
-
-
4544271050
-
Haplotype analysis of VDR gene polymorphisms: A meta-analysis
-
A Thakkinstian C D'Este J Attia 2004 Haplotype analysis of VDR gene polymorphisms: a meta-analysis Osteoporos Int 15 729 734
-
(2004)
Osteoporos Int
, vol.15
, pp. 729-734
-
-
Thakkinstian, A.1
D'Este, C.2
Attia, J.3
-
29
-
-
0036924775
-
Circulating MMP9, vitamin D and variation in the TIMP-1 response with VDR genotype: Mechanisms for inflammatory damage in chronic disorders?
-
PM Timms N Mannan GA Hitman K Noonan PG Mills D Syndercombe-Court E Aganna CP Price BJ Boucher 2002 Circulating MMP9, vitamin D and variation in the TIMP-1 response with VDR genotype: mechanisms for inflammatory damage in chronic disorders? QJM 95 787 796
-
(2002)
QJM
, vol.95
, pp. 787-796
-
-
Timms, P.M.1
Mannan, N.2
Hitman, G.A.3
Noonan, K.4
Mills, P.G.5
Syndercombe-Court, D.6
Aganna, E.7
Price, C.P.8
Boucher, B.J.9
-
30
-
-
0029965018
-
Bone mineral density and bone markers in relation to vitamin D receptor gene polymorphisms in Chinese men and women
-
KS Tsai SH Hsu WC Cheng CK Chen PU Chieng WH Pan 1996 Bone mineral density and bone markers in relation to vitamin D receptor gene polymorphisms in Chinese men and women Bone 19 513 518
-
(1996)
Bone
, vol.19
, pp. 513-518
-
-
Tsai, K.S.1
Hsu, S.H.2
Cheng, W.C.3
Chen, C.K.4
Chieng, P.U.5
Pan, W.H.6
-
31
-
-
33947726858
-
The vitamin D receptor gene FokI polymorphism: Functional impact on the immune system
-
E van Etten L Verlinden A Giulietti E Ramos-Lopez DD Branisteanu GB Ferreira L Overbergh A Verstuyf R Bouillon BO Roep K Badenhoop C Mathieu 2007 The vitamin D receptor gene FokI polymorphism: functional impact on the immune system Eur J Immunol 37 395 405
-
(2007)
Eur J Immunol
, vol.37
, pp. 395-405
-
-
Van Etten, E.1
Verlinden, L.2
Giulietti, A.3
Ramos-Lopez, E.4
Branisteanu, D.D.5
Ferreira, G.B.6
Overbergh, L.7
Verstuyf, A.8
Bouillon, R.9
Roep, B.O.10
Badenhoop, K.11
Mathieu, C.12
-
32
-
-
0031717255
-
Putative susceptibility markers of coronary artery disease: Association between VDR genotype, smoking, and aromatic DNA adduct levels in human right atrial tissue
-
FJ Van Schooten A Hirvonen LM Maas BA De Mol JC Kleinjans DA Bell JD Durrer 1998 Putative susceptibility markers of coronary artery disease: association between VDR genotype, smoking, and aromatic DNA adduct levels in human right atrial tissue FASEB J 12 1409 1417
-
(1998)
FASEB J
, vol.12
, pp. 1409-1417
-
-
Van Schooten, F.J.1
Hirvonen, A.2
Maas, L.M.3
De Mol, B.A.4
Kleinjans, J.C.5
Bell, D.A.6
Durrer, J.D.7
-
33
-
-
11144358101
-
The Mainz Severity Score Index: A new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy
-
C Whybra C Kampmann F Krummenauer M Ries E Mengel E Miebach 2004 The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy Clin Genet 65 299
-
(2004)
Clin Genet
, vol.65
, pp. 299
-
-
Whybra, C.1
Kampmann, C.2
Krummenauer, F.3
Ries, M.4
Mengel, E.5
Miebach, E.6
-
34
-
-
33644933288
-
Cardiovascular disease in chronic kidney failure: The role of VDR activators
-
JR Wu-Wong J Tian M Nakane J Ma TA Fey P Kroeger RM Fryer GA Reinhart 2006 Cardiovascular disease in chronic kidney failure: the role of VDR activators Curr Opin Investig Drugs 7 206 213
-
(2006)
Curr Opin Investig Drugs
, vol.7
, pp. 206-213
-
-
Wu-Wong, J.R.1
Tian, J.2
Nakane, M.3
Ma, J.4
Fey, T.A.5
Kroeger, P.6
Fryer, R.M.7
Reinhart, G.A.8
-
35
-
-
33645871291
-
Effects of Vitamin D analogs on gene expression profiling in human coronary artery smooth muscle cells
-
R Wu-Wong M Nakane J Ma X Ruan PE Kroeger 2006 Effects of Vitamin D analogs on gene expression profiling in human coronary artery smooth muscle cells Atherosclerosis 186 20 28
-
(2006)
Atherosclerosis
, vol.186
, pp. 20-28
-
-
Wu-Wong, R.1
Nakane, M.2
Ma, J.3
Ruan, X.4
Kroeger, P.E.5
-
36
-
-
19944425466
-
Cardiac hypertrophy in vitamin D receptor knockout mice: Role of the systemic and cardiac renin-angiotensin systems
-
W Xiang J Kong S Chen LP Cao G Qiao W Zheng W Liu X Li DG Gardner YC Li 2005 Cardiac hypertrophy in vitamin D receptor knockout mice: role of the systemic and cardiac renin-angiotensin systems Am J Physiol Endocrinol Metab 288 E125 E132
-
(2005)
Am J Physiol Endocrinol Metab
, vol.288
-
-
Xiang, W.1
Kong, J.2
Chen, S.3
Cao, L.P.4
Qiao, G.5
Zheng, W.6
Liu, W.7
Li, X.8
Gardner, D.G.9
Li, Y.C.10
-
38
-
-
0036186116
-
Synthesis of 1,25-dihydroxyvitamin D(3) by human endothelial cells is regulated by inflammatory cytokines: A novel autocrine determinant of vascular cell adhesion
-
D Zehnder R Bland RS Chana DC Wheeler AJ Howie MC Williams PM Stewart M Hewison 2002 Synthesis of 1,25-dihydroxyvitamin D(3) by human endothelial cells is regulated by inflammatory cytokines: a novel autocrine determinant of vascular cell adhesion J Am Soc Nephrol 13 621 629
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 621-629
-
-
Zehnder, D.1
Bland, R.2
Chana, R.S.3
Wheeler, D.C.4
Howie, A.J.5
Williams, M.C.6
Stewart, P.M.7
Hewison, M.8
|