-
1
-
-
0025009766
-
Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia
-
Ala-Kokko L, Baldwin CT, Moskowitz RW, Prockop DJ. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. Proc Natl Acad Sci USA. 1990;87:6565-6568.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 6565-6568
-
-
Ala-Kokko, L.1
Baldwin, C.T.2
Moskowitz, R.W.3
Prockop, D.J.4
-
2
-
-
33744737275
-
Precocious osteoarthritis in a family with recurrent COL2A1 mutation
-
Carlson KM, Yamaga KM, Reinker KA, Hsia YE, Carpenter C, Abe LM, Perry AK, Person DA, Marchuk DA, Raney EM. Precocious osteoarthritis in a family with recurrent COL2A1 mutation. J Rheumatol. 2006;33:1133-1136. (Pubitemid 43825465)
-
(2006)
Journal of Rheumatology
, vol.33
, Issue.6
, pp. 1133-1136
-
-
Carlson, K.M.1
Yamaga, K.M.2
Reinker, K.A.3
Hsia, Y.E.4
Carpenter, C.5
Abe, L.M.6
Perry, A.K.7
Person, D.A.8
Marchuk, D.A.9
Raney, E.M.10
-
3
-
-
0034723721
-
Molecular diagnosis of stickler syndrome: A COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability
-
DOI 10.1002/(SICI)1096-8628(20000228)90:5<398::AID-AJMG10>3.0.CO;2- 7
-
Freddi S, Savarirayan R, Bateman JF. Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability. Am J Med Genet. 2000;90:398-406. (Pubitemid 30080639)
-
(2000)
American Journal of Medical Genetics
, vol.90
, Issue.5
, pp. 398-406
-
-
Freddi, S.1
Savarirayan, R.2
Bateman, J.F.3
-
4
-
-
0027371037
-
Angel-shaped phalango-epiphyseal dysplasia (ASPED): Identification of a new genetic bone marker
-
Giedion A, Prader A, Fliegel C, Krasikov N, Langer L, Poznanski A. Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker. Am J Med Genet. 1993; 47:765-771. (Pubitemid 23291998)
-
(1993)
American Journal of Medical Genetics
, vol.47
, Issue.5
, pp. 765-771
-
-
Giedion, A.1
Prader, A.2
Fliegel, C.3
Krasikov, N.4
Langer, L.5
Poznanski, A.6
-
5
-
-
36348969441
-
Czech dysplasia metatarsal type: Another type II collagen disorder
-
DOI 10.1038/sj.ejhg.5201913, PII 5201913
-
Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR. Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum Genet. 2007;15:1269-1275. (Pubitemid 350143184)
-
(2007)
European Journal of Human Genetics
, vol.15
, Issue.12
, pp. 1269-1275
-
-
Hoornaert, K.P.1
Marik, I.2
Kozlowski, K.3
Cole, T.4
Le, M.M.5
Leroy, J.G.6
Coucke, P.J.7
Sillence, D.8
Mortier, G.R.9
-
6
-
-
77954959024
-
Stickler syndrome caused by COL2A1 mutations: Genotype-phenotype correlation in a series of 100 patients
-
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Bjorck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet. 2010;18:872-880.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 872-880
-
-
Hoornaert, K.P.1
Vereecke, I.2
Dewinter, C.3
Rosenberg, T.4
Beemer, F.A.5
Leroy, J.G.6
Bendix, L.7
Bjorck, E.8
Bonduelle, M.9
Boute, O.10
Cormier-Daire, V.11
De Die-Smulders, C.12
Dieux-Coeslier, A.13
Dollfus, H.14
Elting, M.15
Green, A.16
Guerci, V.I.17
Hennekam, R.C.18
Hilhorts-Hofstee, Y.19
Holder, M.20
Hoyng, C.21
Jones, K.J.22
Josifova, D.23
Kaitila, I.24
Kjaergaard, S.25
Kroes, Y.H.26
Lagerstedt, K.27
Lees, M.28
Lemerrer, M.29
Magnani, C.30
Marcelis, C.31
Martorell, L.32
Mathieu, M.33
McEntagart, M.34
Mendicino, A.35
Morton, J.36
Orazio, G.37
Paquis, V.38
Reish, O.39
Simola, K.O.40
Smithson, S.F.41
Temple, K.I.42
Van Aken, E.43
Van Bever, Y.44
Van Den Ende, J.45
Van Hagen, J.M.46
Zelante, L.47
Zordania, R.48
De Paepe, A.49
Leroy, B.P.50
De Buyzere, M.51
Coucke, P.J.52
Mortier, G.R.53
more..
-
7
-
-
59649092384
-
Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis
-
Kannu P, Bateman JF, Belluoccio D, Fosang AJ, Savarirayan R. Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis. Arthritis Rheum. 2009;60:325-334.
-
(2009)
Arthritis Rheum
, vol.60
, pp. 325-334
-
-
Kannu, P.1
Bateman, J.F.2
Belluoccio, D.3
Fosang, A.J.4
Savarirayan, R.5
-
8
-
-
77951699891
-
Premature arthritis is a distinct type II collagen phenotype
-
Kannu P, Bateman JF, Randle S, Cowie S, du Sart D, McGrath S, Edwards M, Savarirayan R. Premature arthritis is a distinct type II collagen phenotype. Arthritis Rheum. 2010;62:1421-1430.
-
(2010)
Arthritis Rheum
, vol.62
, pp. 1421-1430
-
-
Kannu, P.1
Bateman, J.F.2
Randle, S.3
Cowie, S.4
Du Sart, D.5
McGrath, S.6
Edwards, M.7
Savarirayan, R.8
-
9
-
-
33748592858
-
Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome
-
DOI 10.1002/ajmg.a.31411
-
Kannu P, Oei P, Slater HR, Khammy O, Aftimos S. Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome. Am J Med Genet A. 2006;140:1955-1959. (Pubitemid 44380085)
-
(2006)
American Journal of Medical Genetics, Part A
, vol.140
, Issue.18
, pp. 1955-1959
-
-
Kannu, P.1
Oei, P.2
Slater, H.R.3
Khammy, O.4
Aftimos, S.5
-
10
-
-
55549148401
-
Perthes' disease and the search for genetic associations: Collagen mutations, Gaucher's disease and thrombophilia
-
Kenet G, Ezra E, Wientroub S, Steinberg DM, Rosenberg N, Waldman D, Hayek S. Perthes' disease and the search for genetic associations: collagen mutations, Gaucher's disease and thrombophilia. J Bone Joint Surg Br. 2008;90:1507-1511.
-
(2008)
J Bone Joint Surg Br
, vol.90
, pp. 1507-1511
-
-
Kenet, G.1
Ezra, E.2
Wientroub, S.3
Steinberg, D.M.4
Rosenberg, N.5
Waldman, D.6
Hayek, S.7
-
11
-
-
3343017332
-
Czech dysplasia metatarsal type
-
Kozlowski K, Marik I, Marikova O, Zemkova D, Kuklik M. Czech dysplasia metatarsal type. Am J Med Genet A. 2004; 129A:87-91.
-
(2004)
Am J Med Genet A
, vol.129 A
, pp. 87-91
-
-
Kozlowski, K.1
Marik, I.2
Marikova, O.3
Zemkova, D.4
Kuklik, M.5
-
12
-
-
21144442481
-
Type II collagen gene variants and inherited osteonecrosis of the femoral head
-
DOI 10.1056/NEJMoa042480
-
Liu YF, Chen WM, Lin YF, Yang RC, Lin MW, Li LH, Chang YH, Jou YS, Lin PY, Su JS, Huang SF, Hsiao KJ, Fann CS, Hwang HW, Chen YT, Tsai SF. Type II collagen gene variants and inherited osteonecrosis of the femoral head. N Engl J Med. 2005;352:2294-2301. (Pubitemid 40740553)
-
(2005)
New England Journal of Medicine
, vol.352
, Issue.22
, pp. 2294-2301
-
-
Liu, Y.-F.1
Chen, W.-M.2
Lin, Y.-F.3
Yang, R.-C.4
Lin, M.-W.5
Li, L.-H.6
Chang, Y.-H.7
Jou, Y.-S.8
Lin, P.-Y.9
Su, J.-S.10
Huang, S.-F.11
Hsiao, K.-J.12
Fann, C.S.J.13
Hwang, H.-W.14
Chen, Y.-T.15
Tsai, S.-F.16
-
13
-
-
34248212202
-
A recurrent mutation in type II collagen gene causes Legg-Calvé- Perthes disease in a Japanese family
-
DOI 10.1007/s00439-007-0354-y
-
Miyamoto Y, Matsuda T, Kitoh H, Haga N, Ohashi H, Nishimura G, Ikegawa S. A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family. Hum Genet. 2007;121:625-629. (Pubitemid 46706073)
-
(2007)
Human Genetics
, vol.121
, Issue.5
, pp. 625-629
-
-
Miyamoto, Y.1
Matsuda, T.2
Kitoh, H.3
Haga, N.4
Ohashi, H.5
Nishimura, G.6
Ikegawa, S.7
-
14
-
-
0033990048
-
Primer3 on the WWW for general users and for biologist programmers
-
Krawetz S, Misener S, eds. Totowa, NJ: Humana Press; Source code available at: Accessed February 17, 2011
-
Rozen S, Skaletsky HJ. Primer3 on the WWW for general users and for biologist programmers. In: Krawetz S, Misener S, eds. Bioinformatics Methods and Protocols: Methods in Molecular Biology. Totowa, NJ: Humana Press; 2000:365-386. Source code available at: http://fokker.wi.mit.edu/primer3/. Accessed February 17, 2011.
-
(2000)
Bioinformatics Methods and Protocols: Methods in Molecular Biology
, pp. 365-386
-
-
Rozen, S.1
Skaletsky, H.J.2
-
15
-
-
77953446523
-
The Human Gene Mutation Database: 2008 update
-
Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN. The Human Gene Mutation Database: 2008 update. Genome Med. 2009;1:13.
-
(2009)
Genome Med
, vol.1
, pp. 13
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
Howells, K.4
Phillips, A.D.5
Thomas, N.S.6
Cooper, D.N.7
-
16
-
-
45349084077
-
Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or legg-calvé-perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1
-
DOI 10.1002/art.23491
-
Su P, Li R, Liu S, Zhou Y, Wang X, Patil N, Mow CS, Mason JC, Huang D, Wang Y. Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calve-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1. Arthritis Rheum. 2008;58:1701-1706. (Pubitemid 351847523)
-
(2008)
Arthritis and Rheumatism
, vol.58
, Issue.6
, pp. 1701-1706
-
-
Su, P.1
Li, R.2
Liu, S.3
Zhou, Y.4
Wang, X.5
Patil, N.6
Mow, C.S.7
Mason, J.C.8
Huang, D.9
Wang, Y.10
-
17
-
-
78549276131
-
A histological and ultrastructural study of femoral head cartilage in a new type II collagenopathy
-
Su P, Zhang L, Peng Y, Liang A, Du K, Huang D. A histological and ultrastructural study of femoral head cartilage in a new type II collagenopathy. Int Orthop. 2010;34:1333-1339.
-
(2010)
Int Orthop
, vol.34
, pp. 1333-1339
-
-
Su, P.1
Zhang, L.2
Peng, Y.3
Liang, A.4
Du, K.5
Huang, D.6
-
19
-
-
47349093974
-
Czech dysplasia: Report of a large family and further delineation of the phenotype
-
DOI 10.1002/ajmg.a.32389
-
Tzschach A, Tinschert S, Kaminsky E, Lusga E, Mundlos S, Graul-Neumann LM. Czech dysplasia: report of a large family and further delineation of the phenotype. Am J Med Genet A. 2008;146A:1859-1864. (Pubitemid 352000727)
-
(2008)
American Journal of Medical Genetics, Part A
, vol.146
, Issue.14
, pp. 1859-1864
-
-
Tzschach, A.1
Tinschert, S.2
Kaminsky, E.3
Lusga, E.4
Mundlos, S.5
Graul-Neumann, L.M.6
|