-
1
-
-
79952276219
-
Sclerosing bone disorders: too much of a good thing
-
Perdu B., Van Hul W. Sclerosing bone disorders: too much of a good thing. Crit Rev Eukaryot Gene Expr 2010, 20:195-212.
-
(2010)
Crit Rev Eukaryot Gene Expr
, vol.20
, pp. 195-212
-
-
Perdu, B.1
Van Hul, W.2
-
2
-
-
18244403197
-
Identification of a 52kb deletion downstream of the SOST gene in patients with van Buchem disease
-
Balemans W., Patel N., Ebeling M., Van Hul E., Wuyts W., Lacza C., et al. Identification of a 52kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet 2002, 39:91-97.
-
(2002)
J Med Genet
, vol.39
, pp. 91-97
-
-
Balemans, W.1
Patel, N.2
Ebeling, M.3
Van Hul, E.4
Wuyts, W.5
Lacza, C.6
-
3
-
-
3042813594
-
Identification of the disease-causing gene in sclerosteosis - discovery of a novel bone anabolic target?
-
Balemans W., Van Hul W. Identification of the disease-causing gene in sclerosteosis - discovery of a novel bone anabolic target?. J Musculoskelet Neuronal Interact 2004, 4:139-142.
-
(2004)
J Musculoskelet Neuronal Interact
, vol.4
, pp. 139-142
-
-
Balemans, W.1
Van Hul, W.2
-
4
-
-
0037118285
-
High bone density due to a mutation in LDL-receptor-related protein 5
-
Boyden L.M., Mao J., Belsky J., Mitzner L., Farhi A., Mitnick M.A., et al. High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med 2002, 346:1513-1521.
-
(2002)
N Engl J Med
, vol.346
, pp. 1513-1521
-
-
Boyden, L.M.1
Mao, J.2
Belsky, J.3
Mitzner, L.4
Farhi, A.5
Mitnick, M.A.6
-
5
-
-
0037373341
-
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density
-
Van Wesenbeeck L., Cleiren E., Gram J., Beals R.K., Benichou O., Scopelliti D., et al. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet 2003, 72:763-771.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 763-771
-
-
Van Wesenbeeck, L.1
Cleiren, E.2
Gram, J.3
Beals, R.K.4
Benichou, O.5
Scopelliti, D.6
-
6
-
-
0022644058
-
Calvarial hyperostosis: a benign X-linked recessive disorder
-
Pagon R.A., Beckwith J.B., Ward B.H. Calvarial hyperostosis: a benign X-linked recessive disorder. Clin Genet 1986, 29:73-78.
-
(1986)
Clin Genet
, vol.29
, pp. 73-78
-
-
Pagon, R.A.1
Beckwith, J.B.2
Ward, B.H.3
-
7
-
-
0033953635
-
An economic method for the fluorescent labeling of PCR fragments
-
Schuelke M. An economic method for the fluorescent labeling of PCR fragments. Nat Biotechnol 2000, 18:233-234.
-
(2000)
Nat Biotechnol
, vol.18
, pp. 233-234
-
-
Schuelke, M.1
-
8
-
-
78650774857
-
CNV-WebStore: online CNV analysis, storage and interpretation
-
Vandeweyer G., Reyniers E., Wuyts W., Rooms L., Kooy R.F. CNV-WebStore: online CNV analysis, storage and interpretation. BMC Bioinformatics 2011, 12:4.
-
(2011)
BMC Bioinformatics
, vol.12
, pp. 4
-
-
Vandeweyer, G.1
Reyniers, E.2
Wuyts, W.3
Rooms, L.4
Kooy, R.F.5
-
9
-
-
79960905787
-
Galaxy: a web-based genome analysis tool for experimentalists
-
[Chapter 19:Unit 19]
-
Blankenberg D., Von Kuster G., Coraor N., Ananda G., Lazarus R., Mangan M., et al. Galaxy: a web-based genome analysis tool for experimentalists. Curr Protoc Mol Biol 2010, 10:11-21. [Chapter 19:Unit 19].
-
(2010)
Curr Protoc Mol Biol
, vol.10
, pp. 11-21
-
-
Blankenberg, D.1
Von Kuster, G.2
Coraor, N.3
Ananda, G.4
Lazarus, R.5
Mangan, M.6
-
10
-
-
25844449770
-
Galaxy: a platform for interactive large-scale genome analysis
-
Giardine B., Riemer C., Hardison R.C., Burhans R., Elnitski L., Shah P., et al. Galaxy: a platform for interactive large-scale genome analysis. Genome Res 2005, 15:1451-1455.
-
(2005)
Genome Res
, vol.15
, pp. 1451-1455
-
-
Giardine, B.1
Riemer, C.2
Hardison, R.C.3
Burhans, R.4
Elnitski, L.5
Shah, P.6
-
11
-
-
77955801615
-
Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences
-
Goecks J., Nekrutenko A., Taylor J. Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences. Genome Biol 2010, 11:R86.
-
(2010)
Genome Biol
, vol.11
-
-
Goecks, J.1
Nekrutenko, A.2
Taylor, J.3
-
12
-
-
78651271733
-
Integrative genomics viewer
-
Robinson J.T., Thorvaldsdottir H., Winckler W., Guttman M., Lander E.S., Getz G., et al. Integrative genomics viewer. Nat Biotechnol 2011, 29:24-26.
-
(2011)
Nat Biotechnol
, vol.29
, pp. 24-26
-
-
Robinson, J.T.1
Thorvaldsdottir, H.2
Winckler, W.3
Guttman, M.4
Lander, E.S.5
Getz, G.6
-
13
-
-
84875634162
-
Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
-
Thorvaldsdottir H., Robinson J.T., Mesirov J.P. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform 2013, 14:178-192.
-
(2013)
Brief Bioinform
, vol.14
, pp. 178-192
-
-
Thorvaldsdottir, H.1
Robinson, J.T.2
Mesirov, J.P.3
-
14
-
-
79954988857
-
Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus
-
Prontera P., Rogaia D., Sobacchi C., Tavares V.L., Mazzotta G., Passos-Bueno M.R., et al. Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus. Am J Med Genet A 2011, 155A:1106-1108.
-
(2011)
Am J Med Genet A
, vol.155 A
, pp. 1106-1108
-
-
Prontera, P.1
Rogaia, D.2
Sobacchi, C.3
Tavares, V.L.4
Mazzotta, G.5
Passos-Bueno, M.R.6
-
15
-
-
83355167155
-
Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia
-
Dutra E.H., Chen I.P., McGregor T.L., Ranells J.D., Reichenberger E.J. Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia. Clin Genet 2012, 81:93-95.
-
(2012)
Clin Genet
, vol.81
, pp. 93-95
-
-
Dutra, E.H.1
Chen, I.P.2
McGregor, T.L.3
Ranells, J.D.4
Reichenberger, E.J.5
-
16
-
-
0025169365
-
Craniodiaphyseal dysplasia
-
Brueton L.A., Winter R.M. Craniodiaphyseal dysplasia. J Med Genet 1990, 27:701-706.
-
(1990)
J Med Genet
, vol.27
, pp. 701-706
-
-
Brueton, L.A.1
Winter, R.M.2
-
17
-
-
0023022394
-
Dominantly inherited craniodiaphyseal dysplasia: a new craniotubular dysplasia
-
Schaefer B., Stein S., Oshman D., Rennert O., Thurnau G., Wall J., et al. Dominantly inherited craniodiaphyseal dysplasia: a new craniotubular dysplasia. Clin Genet 1986, 30:381-391.
-
(1986)
Clin Genet
, vol.30
, pp. 381-391
-
-
Schaefer, B.1
Stein, S.2
Oshman, D.3
Rennert, O.4
Thurnau, G.5
Wall, J.6
-
18
-
-
79955562375
-
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia
-
Kim S.J., Bieganski T., Sohn Y.B., Kozlowski K., Semenov M., Okamoto N., et al. Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. Hum Genet 2011, 129:497-502.
-
(2011)
Hum Genet
, vol.129
, pp. 497-502
-
-
Kim, S.J.1
Bieganski, T.2
Sohn, Y.B.3
Kozlowski, K.4
Semenov, M.5
Okamoto, N.6
-
19
-
-
2342446621
-
High-bone-mass disease and LRP5
-
[author reply 2096-2099]
-
Whyte M.P., Reinus W.H., Mumm S. High-bone-mass disease and LRP5. N Engl J Med 2004, 350:2096-2099. [author reply 2096-2099].
-
(2004)
N Engl J Med
, vol.350
, pp. 2096-2099
-
-
Whyte, M.P.1
Reinus, W.H.2
Mumm, S.3
-
20
-
-
0036138175
-
A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait
-
Little R.D., Carulli J.P., Del Mastro R.G., Dupuis J., Osborne M., Folz C., et al. A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am J Hum Genet 2002, 70:11-19.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 11-19
-
-
Little, R.D.1
Carulli, J.P.2
Del Mastro, R.G.3
Dupuis, J.4
Osborne, M.5
Folz, C.6
-
21
-
-
0021289072
-
The syndromic status of sclerosteosis and van Buchem disease
-
Beighton P., Barnard A., Hamersma H., van der Wouden A. The syndromic status of sclerosteosis and van Buchem disease. Clin Genet 1984, 25:175-181.
-
(1984)
Clin Genet
, vol.25
, pp. 175-181
-
-
Beighton, P.1
Barnard, A.2
Hamersma, H.3
van der Wouden, A.4
-
22
-
-
0017258367
-
The clinical features of sclerosteosis. A review of the manifestations in twenty-five affected individuals
-
Beighton P., Durr L., Hamersma H. The clinical features of sclerosteosis. A review of the manifestations in twenty-five affected individuals. Ann Intern Med 1976, 84:393-397.
-
(1976)
Ann Intern Med
, vol.84
, pp. 393-397
-
-
Beighton, P.1
Durr, L.2
Hamersma, H.3
-
23
-
-
0035282968
-
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
-
Balemans W., Ebeling M., Patel N., Van Hul E., Olson P., Dioszegi M., et al. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). Hum Mol Genet 2001, 10:537-543.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 537-543
-
-
Balemans, W.1
Ebeling, M.2
Patel, N.3
Van Hul, E.4
Olson, P.5
Dioszegi, M.6
-
24
-
-
0031788775
-
The origin and evolution of the pseudoautosomal regions of human sex chromosomes
-
Graves J.A., Wakefield M.J., Toder R. The origin and evolution of the pseudoautosomal regions of human sex chromosomes. Hum Mol Genet 1998, 7:1991-1996.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1991-1996
-
-
Graves, J.A.1
Wakefield, M.J.2
Toder, R.3
-
25
-
-
18544408206
-
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region
-
Ciccodicola A., D'Esposito M., Esposito T., Gianfrancesco F., Migliaccio C., Miano M.G., et al. Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region. Hum Mol Genet 2000, 9:395-401.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 395-401
-
-
Ciccodicola, A.1
D'Esposito, M.2
Esposito, T.3
Gianfrancesco, F.4
Migliaccio, C.5
Miano, M.G.6
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