-
4
-
-
0002560149
-
Osteogenesis Imperfecta
-
Connective Tissue and Heritable Disorders (Royce PM, Stainmann B, Eds.). New York: Wiley-Liss
-
(1993)
, pp. 317-350
-
-
Byers, P.H.1
-
11
-
-
0007870996
-
Osteogenesis Imperfecta
-
Schinz. Radiologische diagnostik in klinik und praxis (Frommhold W, Dihlmann W, Stender HS, Thurn P, Eds.). Stuttgart: Georg Thieme
-
(1991)
, pp. 728-745
-
-
Steinmann, B.1
Superti Furga, A.2
Gledion, A.3
-
13
-
-
0001276827
-
Type V Osteogenesis Imperfecta
-
Abstract
-
(1997)
J Bone Min Res
, vol.12
-
-
Glorieux, F.1
Bishop, N.J.2
Travers, R.3
Roughley, P.4
Chabot, G.5
Lanoue, G.6
Fassier, F.7
Glorieux, D.8
Hopkins, E.9
Marini, J.C.10
-
14
-
-
0028050102
-
Osteogenesis Imperfecta Type I: Molecular heterogeneity for COL1A1 null alleles of type I collagen
-
(1994)
Am J Hum Genet
, vol.55
, pp. 638-647
-
-
Willing, M.C.1
Deschenes, S.P.2
Scott, D.A.3
Byers, P.H.4
Slayton, R.L.5
Pitts, S.H.6
Arikat, H.7
Roberts, E.J.8
-
15
-
-
0030955414
-
Mutations in fibrillar collagens (Type I, II, III and XI), fibril-associated collagen (Type IX) and network-forming collagen (Type X) cause a spectrum of disease of bone, cartilage, and blood vessels
-
(1997)
Hum Mutat
, vol.9
, pp. 300-315
-
-
Kuivaniemi, H.1
Tromp, G.2
Prockop, D.J.3
-
17
-
-
0022124526
-
The molecular genetics of collagen
-
(1985)
Bioassay
, vol.3
, pp. 112-117
-
-
Sykes, B.1
-
21
-
-
85031598161
-
-
Relationship of genotype and OI phenotype for mutations in α2(I): Update of the regional model. 7th International Conference on Osteogenesis Imperfecta O-10-O-10. (Abstract)
-
(1999)
-
-
Marini, J.C.1
Forlino, A.2
Cabral, W.A.3
-
24
-
-
0027457360
-
Defective proα2(I) collagen synthesis in a recessive mutation in mice: A model of human Osteogenesis Imperfecta
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 1701-1705
-
-
Chipman, S.D.1
Sweet, H.O.2
McBride D.J., Jr.3
Davisson, M.T.4
Marks, S.C.5
Shuldiner, A.R.6
Wenstrup, R.J.7
Rowe, D.W.8
Shapiro, J.R.9
-
26
-
-
0025130732
-
Transgenic mouse model of the mild dominant form of Osteogenesis Imperfecta
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 7145-7149
-
-
Bonadio, J.F.1
Saunders, T.L.2
Tsai, E.3
Goldstein, S.A.4
Morris-Wiman, J.5
Brinkley, L.6
Dolan, D.F.7
Altschuler, R.A.8
Haukins J.E., Jr.9
Bateman, J.F.10
Mascara, T.11
Jaenish, R.12
-
28
-
-
0031958574
-
Three novel type I collagen mutations in Osteogenesis Imperfecta type IV probands are associated with discrepancies between electrophoretic migration in osteoblast and fibroblast collagen
-
(1998)
Hum Mutat
, vol.11
, pp. 395-403
-
-
Sarafova, A.P.1
Choi, H.2
Forlino, A.3
Gajko, A.4
Cabral, W.A.5
Tosi, L.6
Reing, C.M.7
Marini, J.C.8
-
30
-
-
0027485834
-
Manipulation of transgenes by site-specific recombination: Use of Cre recombinase
-
Methods in Enzymology. San Diego: Academic Press
-
(1993)
, pp. 890-900
-
-
Sauer, B.1
-
32
-
-
0030447691
-
Ribozymes: Structure, function and potential therapy for dominant genetic disorders
-
(1996)
Ann Med
, vol.28
, pp. 499-510
-
-
Grassi, G.1
Marini, J.C.2
-
34
-
-
0027956640
-
Specific inhibition of expression of a human collagen gene (COL1A1) with modified antisense oligonucleotides. The most effective target sites are clustered in double-stranded regions of the predicted secondary structure for the mRNA
-
(1994)
Biochemistry
, vol.33
, pp. 11032-11039
-
-
Laptev, A.V.1
Lu, Z.2
Colige, A.3
Prockop, D.J.4
-
35
-
-
0030053744
-
Antisense oligodeoxynucleotydes selectively suppress expression of the mutant α2(I) collagen allele in type IV Osteogenesis Imperfecta fibroblasts. A molecular approach to therapeutics of dominant negative disorders
-
(1996)
J Clin Invest
, vol.97
, pp. 448-454
-
-
Wang, Q.1
Marini, J.C.2
-
41
-
-
0030889354
-
Marrow stromal cells as stem cells for nonhematopoietic tissues
-
(1997)
Science
, vol.276
, pp. 71-74
-
-
Prockop, D.J.1
-
42
-
-
0029000896
-
Cultured adherent cells from marrow can serve as long-lasting precursor cells for bone, cartilage, and lung in irradiated mice
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 4857-4861
-
-
Pereira, R.F.1
Halford, K.W.2
O'Hara, M.P.3
Leeper, D.B.4
Sokolov, B.P.5
Pollard, M.P.6
Bagasra, O.7
Prockop, D.J.8
-
43
-
-
0032976690
-
Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with Osteogenesis Imperfecta
-
(1999)
Nature Med
, vol.5
, pp. 309-313
-
-
Horwitz, E.M.1
Prockop, D.J.2
Fitzpatrick, L.A.3
Koo, W.W.K.4
Gordon, P.L.5
Neel, M.6
Sussman, M.7
Orchard, P.8
Marx, J.C.9
Pyeritz, R.E.10
Brenner, M.K.11
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