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Chiang, C.Y.8
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21602802 10.1038/nm.2388 1:CAS:528:DC%2BC3MXmsVGmsLY%3D This article, along with that by Yadav et al, [72••], is very controversial. This paper confutes the hypothesis by Yadav et al. [72••] and supports the concept of a direct role of LRP5 in bone cells. Both studies make use of genetic approaches and complex animal models and also allude to human diseases
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Y Cui PJ Niziolek BT Macdonald CR Zylstra N Alenina DR Robinson Z Zhong S Matthes CM Jacobsen RA Conlon R Brommage Q Liu F Mseeh DR Powell QM Yang B Zambrowicz H Gerrits JA Gossen X He M Bader BO Williams ML Warman AG Robling 2011 Lrp5 functions in bone to regulate bone mass Nat Med 17 684 691 21602802 10.1038/nm.2388 1:CAS:528:DC%2BC3MXmsVGmsLY%3D This article, along with that by Yadav et al, [72••], is very controversial. This paper confutes the hypothesis by Yadav et al. [72••] and supports the concept of a direct role of LRP5 in bone cells. Both studies make use of genetic approaches and complex animal models and also allude to human diseases
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Nat Med
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Cui, Y.1
Niziolek, P.J.2
MacDonald, B.T.3
Zylstra, C.R.4
Alenina, N.5
Robinson, D.R.6
Zhong, Z.7
Matthes, S.8
Jacobsen, C.M.9
Conlon, R.A.10
Brommage, R.11
Liu, Q.12
Mseeh, F.13
Powell, D.R.14
Yang, Q.M.15
Zambrowicz, B.16
Gerrits, H.17
Gossen, J.A.18
He, X.19
Bader, M.20
Williams, B.O.21
Warman, M.L.22
Robling, A.G.23
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Nosology and classification of genetic skeletal disorders: 2010 revision
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21438135 This article is a comprehensive analysis of all the clinically recognized genetic skeletal diseases. It describes 456 diseases separated into 40 groups according to common affected molecules or biochemical pathways. It updates previous nosologic analysis using well-defined criteria. It was created by an expert group nominated ad hoc by the International Skeletal Dysplasia Society, which ensured adequate representation of clinical, radiologic, and molecular expertise. The paper is very useful for clinicians to help correct diagnosis, and for scientists involved in the medical genetics of skeletal diseases
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ML Warman V Cormier-Daire C Hall D Krakow R Lachman M LeMerrer G Mortier S Mundlos G Nishimura DL Rimoin S Robertson R Savarirayan D Sillence J Spranger S Unger B Zabel A Superti-Furga 2011 Nosology and classification of genetic skeletal disorders: 2010 revision Am J Med Genet A 155A 943 968 21438135 This article is a comprehensive analysis of all the clinically recognized genetic skeletal diseases. It describes 456 diseases separated into 40 groups according to common affected molecules or biochemical pathways. It updates previous nosologic analysis using well-defined criteria. It was created by an expert group nominated ad hoc by the International Skeletal Dysplasia Society, which ensured adequate representation of clinical, radiologic, and molecular expertise. The paper is very useful for clinicians to help correct diagnosis, and for scientists involved in the medical genetics of skeletal diseases
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(2011)
Am J Med Genet A
, vol.155
, pp. 943-968
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Warman, M.L.1
Cormier-Daire, V.2
Hall, C.3
Krakow, D.4
Lachman, R.5
Lemerrer, M.6
Mortier, G.7
Mundlos, S.8
Nishimura, G.9
Rimoin, D.L.10
Robertson, S.11
Savarirayan, R.12
Sillence, D.13
Spranger, J.14
Unger, S.15
Zabel, B.16
Superti-Furga, A.17
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