-
1
-
-
0031035441
-
Heritable diseases of the skeleton. Part I: Molecular insights into skeletal development - Transcription factors and signalling pathways
-
Mundlos, S. and Olsen, B. R. (1997) Heritable diseases of the skeleton. Part I: Molecular insights into skeletal development - transcription factors and signalling pathways. FASEB J. 11, 125-132
-
(1997)
FASEB J.
, vol.11
, pp. 125-132
-
-
Mundlos, S.1
Olsen, B.R.2
-
2
-
-
0002560149
-
Osteogenesis imperfecta
-
Royce, P., Steinmann, B., eds Wiley-Liss, New York
-
Byers, P. (1993) Osteogenesis imperfecta. In Connective Tissue and its Heritable Disorders (Royce, P., Steinmann, B., eds) pp. 317-350, Wiley-Liss, New York
-
(1993)
Connective Tissue and Its Heritable Disorders
, pp. 317-350
-
-
Byers, P.1
-
3
-
-
0029794061
-
Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains
-
Willing, M. C., Deschenes, S. P., Slayton, R. L., and Roberts, E. J. (1996) Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. Am. J. Hum. Genet. 59, 799-809
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 799-809
-
-
Willing, M.C.1
Deschenes, S.P.2
Slayton, R.L.3
Roberts, E.J.4
-
4
-
-
0021045678
-
The molecular defect in a nonlethal variant of osteogenesis imperfecta
-
Deak, S. B. M., Nicholls, A. F., Pope, F. M., and Prockop, D. J. (1983) The molecular defect in a nonlethal variant of osteogenesis imperfecta. J. Biol. Chem. 258, 15192-15197
-
(1983)
J. Biol. Chem.
, vol.258
, pp. 15192-15197
-
-
Deak, S.B.M.1
Nicholls, A.F.2
Pope, F.M.3
Prockop, D.J.4
-
5
-
-
0029787444
-
Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB: Molecules containing the shortened α2(I)-chains show differential incorporation into the bone and skin extracellular matrix
-
Mundlos, S., Chan, D., Weng, Y.-M., Sillence, D. O., Cole, W. G., and Bateman, J. F. (1996) Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB: molecules containing the shortened α2(I)-chains show differential incorporation into the bone and skin extracellular matrix. J. Biol. Chem. 271, 21068-21074
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 21068-21074
-
-
Mundlos, S.1
Chan, D.2
Weng, Y.-M.3
Sillence, D.O.4
Cole, W.G.5
Bateman, J.F.6
-
6
-
-
0027361307
-
Two additional cases of osteogenesis imperfecta with substitutions for glycine in the α2(I) collagen chain. A regional model relating mutation location with phenotype
-
Wang, Q., Orrison, B. M., and Marini, J. C. (1993) Two additional cases of osteogenesis imperfecta with substitutions for glycine in the α2(I) collagen chain. A regional model relating mutation location with phenotype. J. Biol. Chem. 268, 25162-25167
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 25162-25167
-
-
Wang, Q.1
Orrison, B.M.2
Marini, J.C.3
-
7
-
-
0026492532
-
Characterization of three osteogenesis imperfecta collagen α1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity
-
Bateman, J. F., Moeller, I., Hannagan, M., Chan, D., and Cole, W. G. (1992) Characterization of three osteogenesis imperfecta collagen α1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity. Biochem. J. 288, 131-135
-
(1992)
Biochem. J.
, vol.288
, pp. 131-135
-
-
Bateman, J.F.1
Moeller, I.2
Hannagan, M.3
Chan, D.4
Cole, W.G.5
-
8
-
-
0023944520
-
Heterozygosity for a large deletion in the α2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal Osteogenesis imperfecta
-
Willing, M. C., Cohn, D. H., Starman, B., Holbrook, K. A., Greenberg, C. R., and Byers, P. H. (1988) Heterozygosity for a large deletion in the α2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal Osteogenesis imperfecta. J. Biol. Chem. 263, 8398-8404
-
(1988)
J. Biol. Chem.
, vol.263
, pp. 8398-8404
-
-
Willing, M.C.1
Cohn, D.H.2
Starman, B.3
Holbrook, K.A.4
Greenberg, C.R.5
Byers, P.H.6
-
9
-
-
0021967165
-
Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA
-
Chu, M. L., Gargiulo, V., Williams, C. J., and Ramirez, F. (1985) Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA. J. Biol. Chem. 260, 691-694
-
(1985)
J. Biol. Chem.
, vol.260
, pp. 691-694
-
-
Chu, M.L.1
Gargiulo, V.2
Williams, C.J.3
Ramirez, F.4
-
10
-
-
0021932611
-
Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta
-
Barsh, G. S., Roush, C. L., Bonadio, J., Byers, P. H., and Gelinas, R. E. (1985) Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta. Proc. Natl. Acad. Sci. USA 82, 2870-2874
-
(1985)
Proc. Natl. Acad. Sci. USA
, vol.82
, pp. 2870-2874
-
-
Barsh, G.S.1
Roush, C.L.2
Bonadio, J.3
Byers, P.H.4
Gelinas, R.E.5
-
11
-
-
0027447176
-
Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta
-
Cohn, D. H., Zhang, X., and Byers, P. H. (1993) Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta. Hum. Mutat. 2, 21-27
-
(1993)
Hum. Mutat.
, vol.2
, pp. 21-27
-
-
Cohn, D.H.1
Zhang, X.2
Byers, P.H.3
-
12
-
-
0025777221
-
Osteogenesis imperfecta: Translation of mutation to phenotype
-
Byers, P. H., Wallis, G. A., and Willing, M. C. (1991) Osteogenesis imperfecta: translation of mutation to phenotype. J. Med. Genet. 28, 433-442
-
(1991)
J. Med. Genet.
, vol.28
, pp. 433-442
-
-
Byers, P.H.1
Wallis, G.A.2
Willing, M.C.3
-
13
-
-
0025871086
-
The effects of different cysteine for glycine substitutions within alpha 2(1) chains. Evidence of distinct structural domains within the type I collagen triple helix
-
Wenstrup, R. J., Shrago-Howe, A. W., Lever, L. W., Phillips, C. L., Byers, P. H., and Cohn, D. H. (1991) The effects of different cysteine for glycine substitutions within alpha 2(1) chains. Evidence of distinct structural domains within the type I collagen triple helix. J. Biol. Chem. 266, 2590-2594
-
(1991)
J. Biol. Chem.
, vol.266
, pp. 2590-2594
-
-
Wenstrup, R.J.1
Shrago-Howe, A.W.2
Lever, L.W.3
Phillips, C.L.4
Byers, P.H.5
Cohn, D.H.6
-
14
-
-
0028328909
-
Deposition and selective degradation of structurally-abnormal type I collagen matrix produced by osteogenesis imperfecta fibroblasts in vitro
-
Bateman, J. F., and Golub, S. B. (1994) Deposition and selective degradation of structurally-abnormal type I collagen matrix produced by osteogenesis imperfecta fibroblasts in vitro. Matrix Biol. 14, 251-262
-
(1994)
Matrix Biol.
, vol.14
, pp. 251-262
-
-
Bateman, J.F.1
Golub, S.B.2
-
15
-
-
0020569249
-
Embryonic lethal mutation in mice induced by retrovirus insertion into the alpha 1(I) collagen gene
-
Schnieke, A., Harbers, K., and Jaenisch, R. (1983) Embryonic lethal mutation in mice induced by retrovirus insertion into the alpha 1(I) collagen gene. Nature (London) 304, 315-320
-
(1983)
Nature (London)
, vol.304
, pp. 315-320
-
-
Schnieke, A.1
Harbers, K.2
Jaenisch, R.3
-
16
-
-
0023854836
-
Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene
-
Stacey, A., Bateman, J., Choi, T., Mascara, T., Cole, W., and Jaenisch, R. (1988) Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene. Nature (London) 332, 131-136
-
(1988)
Nature (London)
, vol.332
, pp. 131-136
-
-
Stacey, A.1
Bateman, J.2
Choi, T.3
Mascara, T.4
Cole, W.5
Jaenisch, R.6
-
17
-
-
0025130732
-
Transgenic mouse model of the mild dominant form of osteogenesis imperfecta
-
Bonadio, J., Saunders, T. L., Tsai, E., Goldstein, S. A., Morris-Wiman, J., Brinkley, L., Dolan, D. F., Altschuler, R. A., Hawkins, J. E., Bateman, J. F., Mascara, T., and Jaenisch, R. (1990) Transgenic mouse model of the mild dominant form of osteogenesis imperfecta. Proc. Natl. Acad. Sci. USA 87, 7145-7149
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 7145-7149
-
-
Bonadio, J.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
Hawkins, J.E.9
Bateman, J.F.10
Mascara, T.11
Jaenisch, R.12
-
18
-
-
0027457360
-
Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: A model of human osteogenesis imperfecta
-
Chipman, S. D., Sweet, H. O., McBride, D. J., Jr., Davisson, M. T., Marks, S. C. Jr., Shuldiner, A. R., Wenstrup, R. J., Rowe, D. W., and Shapiro, J. R. (1993) Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta. Proc. Natl. Acad. Sci. USA 90, 1701-1705
-
(1993)
Proc. Natl. Acad. Sci. USA
, vol.90
, pp. 1701-1705
-
-
Chipman, S.D.1
Sweet, H.O.2
McBride Jr., D.J.3
Davisson, M.T.4
Marks Jr., S.C.5
Shuldiner, A.R.6
Wenstrup, R.J.7
Rowe, D.W.8
Shapiro, J.R.9
-
19
-
-
0021723456
-
Osteogenesis imperfecta: Cloning of a proa2(I) collagen gene with a frameshift mutations
-
Pihlajaniemi, T., Dickson, L. A., Pope, F. M., Korhonen, V. R., Nicholls, A., Prockop, D. J., and Myers, J. C. (1984) Osteogenesis imperfecta: cloning of a proa2(I) collagen gene with a frameshift mutations. J. Biol. Chem. 259, 12941-13944
-
(1984)
J. Biol. Chem.
, vol.259
, pp. 12941-13944
-
-
Pihlajaniemi, T.1
Dickson, L.A.2
Pope, F.M.3
Korhonen, V.R.4
Nicholls, A.5
Prockop, D.J.6
Myers, J.C.7
-
20
-
-
0028157152
-
The type II collagenopathies: A spectrum of chondrodysplasias
-
Spranger, J., Winterpacht, A., and Zabel, B. (1994) The type II collagenopathies: a spectrum of chondrodysplasias. Eur. J. Pediatr. 153, 56-65
-
(1994)
Eur. J. Pediatr.
, vol.153
, pp. 56-65
-
-
Spranger, J.1
Winterpacht, A.2
Zabel, B.3
-
21
-
-
0023014005
-
Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis
-
Eyre, D. R., Upton, M. P., Shapiro, F. D., Wilkinson, R. H., and Vawter, G. F. (1986) Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis. Am. J. Hum. Genet. 39, 52-67
-
(1986)
Am. J. Hum. Genet.
, vol.39
, pp. 52-67
-
-
Eyre, D.R.1
Upton, M.P.2
Shapiro, F.D.3
Wilkinson, R.H.4
Vawter, G.F.5
-
22
-
-
0028938776
-
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage
-
Chan, D., Cole, W. G., Chow, C. W., Mundlos, S., and Bateman, J. F. (1995) A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage. J. Biol. Chem. 270, 1747-1753
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 1747-1753
-
-
Chan, D.1
Cole, W.G.2
Chow, C.W.3
Mundlos, S.4
Bateman, J.F.5
-
23
-
-
0029870866
-
An α1(II) Gly to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis
-
Mundlos, S., Chan, D., McGill, J., and Bateman, J. F. (1996) An α1(II) Gly to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis. Am. J. Med. Genet. 63, 129-136
-
(1996)
Am. J. Med. Genet.
, vol.63
, pp. 129-136
-
-
Mundlos, S.1
Chan, D.2
McGill, J.3
Bateman, J.F.4
-
24
-
-
0025948422
-
Alternatively spliced type II procollagen mRNAs define distinct populations of cells during vertebral development: Differential expression of the amino-propeptide
-
Sandell, L. J., Morris, N., Robbins, J. R., and Goldring, M. B. (1991) Alternatively spliced type II procollagen mRNAs define distinct populations of cells during vertebral development: differential expression of the amino-propeptide. J. Cell Biol. 114, 1307-1319
-
(1991)
J. Cell Biol.
, vol.114
, pp. 1307-1319
-
-
Sandell, L.J.1
Morris, N.2
Robbins, J.R.3
Goldring, M.B.4
-
25
-
-
0025732094
-
Expression of the mouse α1(II) collagen gene is not restricted to cartilage during development
-
Chea, K. S., Lau, E. T., Au, P. K., and Tam, P. P. (1991) Expression of the mouse α1(II) collagen gene is not restricted to cartilage during development. Development 111, 945-953
-
(1991)
Development
, vol.111
, pp. 945-953
-
-
Chea, K.S.1
Lau, E.T.2
Au, P.K.3
Tam, P.P.4
-
26
-
-
0025743952
-
Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia
-
Chan, D., and Cole, W. G. (1991) Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia. J. Biol. Chem. 266, 2487-2494
-
(1991)
J. Biol. Chem.
, vol.266
, pp. 2487-2494
-
-
Chan, D.1
Cole, W.G.2
-
27
-
-
0027171315
-
Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia
-
Chan, D., Taylor, T. K., and Cole, W. G. (1993) Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia. J. Biol. Chem. 268, 15238-15245
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 15238-15245
-
-
Chan, D.1
Taylor, T.K.2
Cole, W.G.3
-
28
-
-
0027471786
-
Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect
-
Winterpacht, A., Hilbert, M., Schwarze, U., Mundlos, S., Spranger, J., and Zabel, U. (1993) Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nature Genet. 3, 323-326
-
(1993)
Nature Genet.
, vol.3
, pp. 323-326
-
-
Winterpacht, A.1
Hilbert, M.2
Schwarze, U.3
Mundlos, S.4
Spranger, J.5
Zabel, U.6
-
29
-
-
0029871742
-
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia
-
Zabel, B., Hilbert, K., Stöb, H., Superti-Furga, A., Spranger, J., and Winterpacht, A. (1996) A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. Am. J. Med. Genet. 63, 123-128
-
(1996)
Am. J. Med. Genet.
, vol.63
, pp. 123-128
-
-
Zabel, B.1
Hilbert, K.2
Stöb, H.3
Superti-Furga, A.4
Spranger, J.5
Winterpacht, A.6
-
30
-
-
0026000341
-
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)
-
Ahmad, N. N., Ala-Kokko, L., Knowlton, R. G., Jimenez, S. A., Weaver, E. J., Maguire, J. I., Tasman, W., and Prockop, D. J. (1991) Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc. Natl. Acad. Sci. USA 88, 6624-6627
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 6624-6627
-
-
Ahmad, N.N.1
Ala-Kokko, L.2
Knowlton, R.G.3
Jimenez, S.A.4
Weaver, E.J.5
Maguire, J.I.6
Tasman, W.7
Prockop, D.J.8
-
31
-
-
0025871638
-
Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia
-
Vandenberg, P., Khillan, J. S., Prockop, D. J., Helminen, H., Kontusaari, S., and Ala-kokko, L. (1991) Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia. Proc. Natl. Acad. Sci. USA 88, 7640-7644
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 7640-7644
-
-
Vandenberg, P.1
Khillan, J.S.2
Prockop, D.J.3
Helminen, H.4
Kontusaari, S.5
Ala-kokko, L.6
-
32
-
-
0027488640
-
Abnormal craniofacial morphology and cartilage structure in transgenic mice harboring a Gly ⇒ Cys mutation in the cartilage-specific type II collagen gene
-
Rintala, M., Metsäranta, M., Garofalo, S., de Crombrugghe, B., Vuorio, E., and Rönning, O. (1993) Abnormal craniofacial morphology and cartilage structure in transgenic mice harboring a Gly ⇒ Cys mutation in the cartilage-specific type II collagen gene. J. Craniofacial Genet. Dev. Biol. 13, 137-146
-
(1993)
J. Craniofacial Genet. Dev. Biol.
, vol.13
, pp. 137-146
-
-
Rintala, M.1
Metsäranta, M.2
Garofalo, S.3
De Crombrugghe, B.4
Vuorio, E.5
Rönning, O.6
-
33
-
-
0031034806
-
Disproportionate micromelia (Dmm) in mice caused by a mutation in the C-propeptide coding region of Col2a1
-
Pace, J. M., Li. Y., Seegmiller, R. E., Teuscher, C., Taylor, B. A., and Olsen, B. R. (1997) Disproportionate micromelia (Dmm) in mice caused by a mutation in the C-propeptide coding region of Col2a1. Dev. Dyn. 208, 25-33
-
(1997)
Dev. Dyn.
, vol.208
, pp. 25-33
-
-
Pace, J.M.1
Li, Y.2
Seegmiller, R.E.3
Teuscher, C.4
Taylor, B.A.5
Olsen, B.R.6
-
34
-
-
0027488970
-
Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition
-
Jacenko, O., Lu Valle, P. A., and Olsen, B. R. (1993) Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition. Nature (London) 365, 56-61
-
(1993)
Nature (London)
, vol.365
, pp. 56-61
-
-
Jacenko, O.1
Lu Valle, P.A.2
Olsen, B.R.3
-
35
-
-
0027282559
-
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia
-
Warman, M. L., Abbott, M. H., Apte, S. S., Hefferon, T., McIntosh, I., Cohn, D. H., Hecht, J. T., Olsen, B. R., and Francomano, C. A. (1993) A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. Nature Genet. 5, 79-82
-
(1993)
Nature Genet.
, vol.5
, pp. 79-82
-
-
Warman, M.L.1
Abbott, M.H.2
Apte, S.S.3
Hefferon, T.4
McIntosh, I.5
Cohn, D.H.6
Hecht, J.T.7
Olsen, B.R.8
Francomano, C.A.9
-
36
-
-
0028965555
-
Type X collagen multimer assembly in vitro is prevented by a Gly 618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia
-
Chan, D., Cole, W. G., Rogers, J. G., and Bateman, J. F. (1995) Type X collagen multimer assembly in vitro is prevented by a Gly 618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia. J. Biol. Chem. 270, 4558-4562
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 4558-4562
-
-
Chan, D.1
Cole, W.G.2
Rogers, J.G.3
Bateman, J.F.4
-
37
-
-
0028067199
-
Normal long bone growth and development in type X collagen-null mice
-
Rosati, R., Horan, G. S., Oinero, G. J., Garofalo, S., Keene, D. R., Horton, W. A., Vuorio, E., de Crombrugghe, B., and Behringer, R. R. (1994) Normal long bone growth and development in type X collagen-null mice. Nature Genet. 8, 129-135
-
(1994)
Nature Genet.
, vol.8
, pp. 129-135
-
-
Rosati, R.1
Horan, G.S.2
Oinero, G.J.3
Garofalo, S.4
Keene, D.R.5
Horton, W.A.6
Vuorio, E.7
De Crombrugghe, B.8
Behringer, R.R.9
-
38
-
-
0029088317
-
New insights into the function of collagens from genetic analysis
-
Olsen, B. R. (1995) New insights into the function of collagens from genetic analysis. Curr. Opin. Cell Biol. 7, 720-727
-
(1995)
Curr. Opin. Cell Biol.
, vol.7
, pp. 720-727
-
-
Olsen, B.R.1
-
39
-
-
0030069658
-
A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)
-
Muragaki, Y., Mariman E. C. M., van Beersum, S. E. C., Perälä, M., van Mourik, J. B. A., Warman, M. L., Olsen, B. R., and Hamel, B. C. J. (1996) A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). Nature Genet. 12, 103-105
-
(1996)
Nature Genet.
, vol.12
, pp. 103-105
-
-
Muragaki, Y.1
Mariman, E.C.M.2
Van Beersum, S.E.C.3
Perälä, M.4
Van Mourik, J.B.A.5
Warman, M.L.6
Olsen, B.R.7
Hamel, B.C.J.8
-
40
-
-
0028136738
-
Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene
-
Briggs, M. D., Choi, H., Warman, M. L., Loughlin, J. A., Wordsworth, P., Sykes, B. C., Irven, C. M., Smith, M., Wynne-Davies, R., Lipson, M. H., Biesecker, L. G., Garber, A. P., Lachman, R., Olsen, B. R., Rimoin, D. L., and Cohn, D. H. (1994) Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. Am. J. Hum. Genet. 55, 678-684
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 678-684
-
-
Briggs, M.D.1
Choi, H.2
Warman, M.L.3
Loughlin, J.A.4
Wordsworth, P.5
Sykes, B.C.6
Irven, C.M.7
Smith, M.8
Wynne-Davies, R.9
Lipson, M.H.10
Biesecker, L.G.11
Garber, A.P.12
Lachman, R.13
Olsen, B.R.14
Rimoin, D.L.15
Cohn, D.H.16
-
41
-
-
0027509678
-
Osteoarthritis associated with mild chondrodysplasia in transgenic mice expression α1(IX) collagen chains with a central deletion
-
Nakata, K., Ono, K., Miyazaki, J.-I., Olsen, B. R., Muragaki, Y., Adachi, E., Yamamura, K.-I., and Kimura, T. (1993) Osteoarthritis associated with mild chondrodysplasia in transgenic mice expression α1(IX) collagen chains with a central deletion. Proc. Natl. Acad. Sci. USA 90, 2870-2874
-
(1993)
Proc. Natl. Acad. Sci. USA
, vol.90
, pp. 2870-2874
-
-
Nakata, K.1
Ono, K.2
Miyazaki, J.-I.3
Olsen, B.R.4
Muragaki, Y.5
Adachi, E.6
Yamamura, K.-I.7
Kimura, T.8
-
42
-
-
0028290671
-
Mice lacking α1(IX) collagen develop noninflammatory degenerative joint disease
-
Fässler, R., Schnegelsberg, P. N. J., Dausman, J., Shinya, T., Muragaki, Y., McCarthy, M. T., Olsen, B. R., and Jaenisch, R. (1994) Mice lacking α1(IX) collagen develop noninflammatory degenerative joint disease. Proc. Natl. Acad. Sci. USA 91, 5070-5074
-
(1994)
Proc. Natl. Acad. Sci. USA
, vol.91
, pp. 5070-5074
-
-
Fässler, R.1
Schnegelsberg, P.N.J.2
Dausman, J.3
Shinya, T.4
Muragaki, Y.5
McCarthy, M.T.6
Olsen, B.R.7
Jaenisch, R.8
-
43
-
-
0028815298
-
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
-
Vikkula, M., Mariman, E. C. M., Lui, V. C. H., Zhidkova, N. I., Tiller, G. E., Goldring, M. B., van Beersum, S. E. C., de Waal Malefijt, M. C., van der Hoogen, F. H. J., Ropers, H.-H., Mayne, R., Cheah, K. S. E., Olsen, B. R., Warman, M. L., and Brunner, H. G. (1995) Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 80, 431-437
-
(1995)
Cell
, vol.80
, pp. 431-437
-
-
Vikkula, M.1
Mariman, E.C.M.2
Lui, V.C.H.3
Zhidkova, N.I.4
Tiller, G.E.5
Goldring, M.B.6
Van Beersum, S.E.C.7
De Waal Malefijt, M.C.8
Van Der Hoogen, F.H.J.9
Ropers, H.-H.10
Mayne, R.11
Cheah, K.S.E.12
Olsen, B.R.13
Warman, M.L.14
Brunner, H.G.15
-
44
-
-
0027255721
-
Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous
-
Mayne, R., Brewton, R. G., Mayne, P. M., and Baker, J. R. (1993) Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous. J. Biol. Chem. 268, 9381-9386
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 9381-9386
-
-
Mayne, R.1
Brewton, R.G.2
Mayne, P.M.3
Baker, J.R.4
-
45
-
-
0028815297
-
A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis
-
Li, Y., Lacerda, D. A., Warman, M. L., Beier, D. R., Yoshioka, H., Ninomiya, Y., Oxford, J. T., Morris, N. P., Andrikopoulos, K., Ramirez, F., Wardell, B. B., Lifferth, C. D., Teuscher, C., Woodwaed, S. R., Taylor, B. A., Seegmiller, R. E., and Olsen, B. R. (1995) A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis. Cell 80, 423-430
-
(1995)
Cell
, vol.80
, pp. 423-430
-
-
Li, Y.1
Lacerda, D.A.2
Warman, M.L.3
Beier, D.R.4
Yoshioka, H.5
Ninomiya, Y.6
Oxford, J.T.7
Morris, N.P.8
Andrikopoulos, K.9
Ramirez, F.10
Wardell, B.B.11
Lifferth, C.D.12
Teuscher, C.13
Woodwaed, S.R.14
Taylor, B.A.15
Seegmiller, R.E.16
Olsen, B.R.17
-
46
-
-
0025934504
-
Distribution of cartilage proteoglycan core protein and link protein gene expression during human skeletal development
-
Mundlos, S., Meyer, R., Yamada, Y., and Zahel, B. (1991) Distribution of cartilage proteoglycan core protein and link protein gene expression during human skeletal development. Matrix 11, 339-346
-
(1991)
Matrix
, vol.11
, pp. 339-346
-
-
Mundlos, S.1
Meyer, R.2
Yamada, Y.3
Zahel, B.4
-
47
-
-
0028225528
-
Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene
-
Watanabe, H., Kimata, K., Line, S., Strong, D., Gao,. L. Y,. kuzak, C. A., and Yamada, Y. (1994) Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene. Nature Genet. 7, 54-157
-
(1994)
Nature Genet.
, vol.7
, pp. 54-157
-
-
Watanabe, H.1
Kimata, K.2
Line, S.3
Strong, D.4
Gao, L.Y.5
Kuzak, C.A.6
Yamada, Y.7
-
48
-
-
0027373233
-
cDNA cloning of chick cartilage chondroitin sulfate (aggrecan) core protein and identification of a stop codon in the aggrecan gene associated with the chondrodystrophy, nanomelia
-
Li, H., Schwartz, N. B., and Vertel, B. M. (1993) cDNA cloning of chick cartilage chondroitin sulfate (aggrecan) core protein and identification of a stop codon in the aggrecan gene associated with the chondrodystrophy, nanomelia. J. Biol. Chem. 268, 23504-23511
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 23504-23511
-
-
Li, H.1
Schwartz, N.B.2
Vertel, B.M.3
-
49
-
-
0021276549
-
Pathogenic mechanisms in osteochondrodysplasias
-
Stanescu, V., Stanescu, R., and Maroteaux P. (1984) Pathogenic mechanisms in osteochondrodysplasias. J. Bone Joint Surg. 66A, 817-836
-
(1984)
J. Bone Joint Surg.
, vol.66 A
, pp. 817-836
-
-
Stanescu, V.1
Stanescu, R.2
Maroteaux, P.3
-
50
-
-
0027762501
-
Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19
-
Briggs, M. D., Rasmussen, I. M., Weber, J. L., Yuen, J., Reinker, K., Garber, A. P., Rimoin, D. L., and Cohn, D. H. (1993) Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19. Genomics 18, 656-660
-
(1993)
Genomics
, vol.18
, pp. 656-660
-
-
Briggs, M.D.1
Rasmussen, I.M.2
Weber, J.L.3
Yuen, J.4
Reinker, K.5
Garber, A.P.6
Rimoin, D.L.7
Cohn, D.H.8
-
51
-
-
0027770699
-
Linkage of typical pseudoachondroplasia to chromosome 19
-
Hecht, J.T., Francomano, C. A., Briggs. M. D., Deere, M., Conner, B., Horton, W. A., Warman, M., Cohn, D. H., and Blanton, S. H. (1993) Linkage of typical pseudoachondroplasia to chromosome 19. Genomics 18, 661-666
-
(1993)
Genomics
, vol.18
, pp. 661-666
-
-
Hecht, J.T.1
Francomano, C.A.2
Briggs, M.D.3
Deere, M.4
Conner, B.5
Horton, W.A.6
Warman, M.7
Cohn, D.H.8
Blanton, S.H.9
-
52
-
-
0029070079
-
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
-
Briggs, M. D., Hoffman, S. M. G., King, L. M., Olsen, A. S., Mohrenweiser, H., Leroy, J. G., Mortiier, G. R., Rimoin, D. L., Lachman, R. S., Gaines, E. S., Cekleniak, J. A., Knowlton, R. G., and Cohn, D. H. (1995) Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nature Genet. 10, 330-336
-
(1995)
Nature Genet.
, vol.10
, pp. 330-336
-
-
Briggs, M.D.1
Hoffman, S.M.G.2
King, L.M.3
Olsen, A.S.4
Mohrenweiser, H.5
Leroy, J.G.6
Mortiier, G.R.7
Rimoin, D.L.8
Lachman, R.S.9
Gaines, E.S.10
Cekleniak, J.A.11
Knowlton, R.G.12
Cohn, D.H.13
-
53
-
-
0029035708
-
Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondoplasia
-
Hecht, J. T., Nelson, L. D., Crowder, E., Wang, Y., Elder, F. F. B., Harrison, W. R., Francomano, C. A., Prange, C. K., Lennon, G. G., Deere, M., and Lawler, J. (1995) Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondoplasia. Nature Genet. 10, 325-329
-
(1995)
Nature Genet.
, vol.10
, pp. 325-329
-
-
Hecht, J.T.1
Nelson, L.D.2
Crowder, E.3
Wang, Y.4
Elder, F.F.B.5
Harrison, W.R.6
Francomano, C.A.7
Prange, C.K.8
Lennon, G.G.9
Deere, M.10
Lawler, J.11
-
54
-
-
0027475225
-
Multiple epiphyseal dysplasia, Fairbank type: Morphologic and biochemical study of cartilage
-
Stanescu, R., Stanescu, V., Muriel, M. P., and Maroteaux, P. (1993) Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage. Am. J. Med. Genet. 45, 501-507
-
(1993)
Am. J. Med. Genet.
, vol.45
, pp. 501-507
-
-
Stanescu, R.1
Stanescu, V.2
Muriel, M.P.3
Maroteaux, P.4
-
55
-
-
0028123407
-
Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19
-
Oehlmann, R., Summerville, G. P., Yeh, G., Weaver, E. J., Jimenez, S. A., and Knowlton, R. G. (1994) Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19. Am. J. Hum. Genet. 54, 3-10
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 3-10
-
-
Oehlmann, R.1
Summerville, G.P.2
Yeh, G.3
Weaver, E.J.4
Jimenez, S.A.5
Knowlton, R.G.6
-
56
-
-
0028957868
-
Genetic heterogeneity in multiple epiphyseal dysplasia
-
Deere, M., Blanton, S. H., Scott, C. I., Langer, L. O., Pauli, R. M., and Hecht, J. T. (1995) Genetic heterogeneity in multiple epiphyseal dysplasia. Am. J. Hum. Genet. 56, 698-704
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 698-704
-
-
Deere, M.1
Blanton, S.H.2
Scott, C.I.3
Langer, L.O.4
Pauli, R.M.5
Hecht, J.T.6
-
57
-
-
0018332309
-
Diastrophic dwarfism: A histochemical and ultrastructural study of the endochondral growth plate
-
Horton, W. A., Rimoin, D. L., Hollister, D. W., and Silberberg, R. (1979) Diastrophic dwarfism: a histochemical and ultrastructural study of the endochondral growth plate. Pediatr. Res. 13, 904-909
-
(1979)
Pediatr. Res.
, vol.13
, pp. 904-909
-
-
Horton, W.A.1
Rimoin, D.L.2
Hollister, D.W.3
Silberberg, R.4
-
58
-
-
0026949420
-
Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
-
Hästbacka, J., de la Chapelle, A., Kaitila, , I., Sistonen, P., Weaver, A., and Lander, E. S. (1992) Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nature Genet. 2, 204-211
-
(1992)
Nature Genet.
, vol.2
, pp. 204-211
-
-
Hästbacka, J.1
De La Chapelle, A.2
Kaitila, I.3
Sistonen, P.4
Weaver, A.5
Lander, E.S.6
-
59
-
-
0027978110
-
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
-
Hästbacka, J., de la Chapelle, A., Mahtani, M. M., Clines, G., Reeve-Daly, M. P., Daly, M., Hamilton, B. A., Kusumi, K., Trivedi, B., Weaver, A., Coloma, A., Lovett, M., Buckler, A., Kaitila, I., and Lander, E. S. (1994) The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 78, 1073-1087
-
(1994)
Cell
, vol.78
, pp. 1073-1087
-
-
Hästbacka, J.1
De La Chapelle, A.2
Mahtani, M.M.3
Clines, G.4
Reeve-Daly, M.P.5
Daly, M.6
Hamilton, B.A.7
Kusumi, K.8
Trivedi, B.9
Weaver, A.10
Coloma, A.11
Lovett, M.12
Buckler, A.13
Kaitila, I.14
Lander, E.S.15
-
60
-
-
13344278021
-
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
-
Superti-Furga, A., Hästbacka, J., Wilcox, W. R., Cohn, D. H., van der Harten, H. J., Rossi, A., Blau, N., Rimoin, D. L., Steinmann, B., Lander, E. S., and Gitzelmann, R. (1996) Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nature Genet. 12, 100-102
-
(1996)
Nature Genet.
, vol.12
, pp. 100-102
-
-
Superti-Furga, A.1
Hästbacka, J.2
Wilcox, W.R.3
Cohn, D.H.4
Van Der Harten, H.J.5
Rossi, A.6
Blau, N.7
Rimoin, D.L.8
Steinmann, B.9
Lander, E.S.10
Gitzelmann, R.11
-
61
-
-
25544451033
-
Atelosteogenesis type II is caused by mutations in the dystrophic dysplasia sulfate transporter gene (DTDST)
-
Hästbacka, J., Wilcox, W. R., Superti-Furga, A., Rimoin, D. L., Cohn, D. H., and Lander, E. S. (1995) Atelosteogenesis type II is caused by mutations in the dystrophic dysplasia sulfate transporter gene (DTDST). Am. J. Mol. Genet. 57, A48
-
(1995)
Am. J. Mol. Genet.
, vol.57
-
-
Hästbacka, J.1
Wilcox, W.R.2
Superti-Furga, A.3
Rimoin, D.L.4
Cohn, D.H.5
Lander, E.S.6
-
62
-
-
0019890921
-
Brachymorphic mice (bm/bm); a generalized biochemical defect expressed primarily in cartilage
-
Pennypacker, J. P., Kimata, K., and Brown S. (1981) Brachymorphic mice (bm/bm); a generalized biochemical defect expressed primarily in cartilage. Dev. Biol. 81, 280-287
-
(1981)
Dev. Biol.
, vol.81
, pp. 280-287
-
-
Pennypacker, J.P.1
Kimata, K.2
Brown, S.3
-
63
-
-
0026023289
-
Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice
-
Soriano, P., Montgomery, C., Geske, R., and Bradley, A. (1991) Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice. Cell 64, 693-702
-
(1991)
Cell
, vol.64
, pp. 693-702
-
-
Soriano, P.1
Montgomery, C.2
Geske, R.3
Bradley, A.4
-
64
-
-
0028173214
-
c-Fos: A key regulator of osteoclast-macrophage lineage determination and bone remodeling
-
Grigoriadis, A. E., Wang, Z. Q., Cecchini, M. G., Hofstetter, W., Felix, R., Fleisch, H. A., and Wagner, E. F. (1994) c-Fos: a key regulator of osteoclast-macrophage lineage determination and bone remodeling. Science 266, 443-448
-
(1994)
Science
, vol.266
, pp. 443-448
-
-
Grigoriadis, A.E.1
Wang, Z.Q.2
Cecchini, M.G.3
Hofstetter, W.4
Felix, R.5
Fleisch, H.A.6
Wagner, E.F.7
-
65
-
-
0025323482
-
Total absence of colony-stimulating factor 1 in the macrophage-deficient osteopetrotic (op/ op) mouse
-
Wiktor-Jedrzejczak, W., Bartocci, A., Ferrante, A. W. J., Ahmed-Ansari, A., Sell, K. W., Pollard, J. W., and Stanley, E. R. (1990) Total absence of colony-stimulating factor 1 in the macrophage-deficient osteopetrotic (op/ op) mouse. Proc. Natl. Acad. Sci. USA 87, 4828-4832
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 4828-4832
-
-
Wiktor-Jedrzejczak, W.1
Bartocci, A.2
Ferrante, A.W.J.3
Ahmed-Ansari, A.4
Sell, K.W.5
Pollard, J.W.6
Stanley, E.R.7
-
66
-
-
0029314871
-
Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping
-
Gelb, B. D., Edelson, J. G., and Desnick, R. J. (1995) Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. Nature Genet. 10, 235-237
-
(1995)
Nature Genet.
, vol.10
, pp. 235-237
-
-
Gelb, B.D.1
Edelson, J.G.2
Desnick, R.J.3
-
67
-
-
0029809357
-
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency
-
Gelb, B. D., Shi, G. P., Chapman, H. A., and Desnick, R. J. (1996) Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 273, 1236-1238
-
(1996)
Science
, vol.273
, pp. 1236-1238
-
-
Gelb, B.D.1
Shi, G.P.2
Chapman, H.A.3
Desnick, R.J.4
-
68
-
-
23444460542
-
Prediction of bone density from vitamin D receptor alleles
-
Morrison, N. A., Qi, J. C., Tokita, A., Kelley, P. J., Crofts, L., Nguyen, T. V., Sambrook, P. N., and Eisman, J. A. (1994) Prediction of bone density from vitamin D receptor alleles. Nature (London) 367, 284-287
-
(1994)
Nature (London)
, vol.367
, pp. 284-287
-
-
Morrison, N.A.1
Qi, J.C.2
Tokita, A.3
Kelley, P.J.4
Crofts, L.5
Nguyen, T.V.6
Sambrook, P.N.7
Eisman, J.A.8
-
69
-
-
0028080039
-
Bone mineral density in relation to polymorphism at the vitamin D receptor gene locus
-
Hustmyer, F. G., Peacock, M., Hui, S., Johnston, C. C., and Christian, J. (1994) Bone mineral density in relation to polymorphism at the vitamin D receptor gene locus. J. Clin. Invest. 94, 2130-2134
-
(1994)
J. Clin. Invest.
, vol.94
, pp. 2130-2134
-
-
Hustmyer, F.G.1
Peacock, M.2
Hui, S.3
Johnston, C.C.4
Christian, J.5
-
70
-
-
0028823244
-
Lack of association between vitamin D receptor genotypes and osteoporosis in Koreans
-
Lim, S. K., Park, Y. S., Park, J. M., Song, Y. D., Lee, E. J., Kim, K. R., Lee, H. C., and Huh, K. B. (1995) Lack of association between vitamin D receptor genotypes and osteoporosis in Koreans. J. Clin. Endocrinol. Metab. 80, 3677-3681
-
(1995)
J. Clin. Endocrinol. Metab.
, vol.80
, pp. 3677-3681
-
-
Lim, S.K.1
Park, Y.S.2
Park, J.M.3
Song, Y.D.4
Lee, E.J.5
Kim, K.R.6
Lee, H.C.7
Huh, K.B.8
-
71
-
-
0029870079
-
Vitamin D receptor polymorphism, bone mineral density, and osteoporotic vertebral fracture: Studies in a UK population
-
Houston, L. A., Grant, S. F., Reid, D. M., and Ralston, S. H. (1996) Vitamin D receptor polymorphism, bone mineral density, and osteoporotic vertebral fracture: studies in a UK population. Bone 18, 249-252
-
(1996)
Bone
, vol.18
, pp. 249-252
-
-
Houston, L.A.1
Grant, S.F.2
Reid, D.M.3
Ralston, S.H.4
-
72
-
-
0029896877
-
Vitamin D receptor gene polymorphisms are not related to bone turnover, rate of bone loss, and bone mass in postmenopausal women: The OFELY study
-
Garnero, P., Borel, O., Sornay-Rendu, E., Ariot, M. E., and Delmas, P. D. (1996) Vitamin D receptor gene polymorphisms are not related to bone turnover, rate of bone loss, and bone mass in postmenopausal women: the OFELY study. J. Bone Miner. Res. 11, 827-834
-
(1996)
J. Bone Miner. Res.
, vol.11
, pp. 827-834
-
-
Garnero, P.1
Borel, O.2
Sornay-Rendu, E.3
Ariot, M.E.4
Delmas, P.D.5
-
73
-
-
0029937085
-
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13
-
Gong, Y., Vikkula, M., Boon, L., Liu, J., Beighton, P., Ramesar, R., Peltonen, L., Somer, H., Hirose, T., Dallapiccola, B., De Paepe, A., Swoboda, W., Zabel, B., Superti-Furga, A., Steinmann, B., Brunner, H. G., Jans, A., Boles, R. G., Adkins, W., van der Boogaard, M. J., Olsen, B. R., and Warman, M. L. (1996) Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am. J. Hum. Genet. 59, 146-151
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 146-151
-
-
Gong, Y.1
Vikkula, M.2
Boon, L.3
Liu, J.4
Beighton, P.5
Ramesar, R.6
Peltonen, L.7
Somer, H.8
Hirose, T.9
Dallapiccola, B.10
De Paepe, A.11
Swoboda, W.12
Zabel, B.13
Superti-Furga, A.14
Steinmann, B.15
Brunner, H.G.16
Jans, A.17
Boles, R.G.18
Adkins, W.19
Van Der Boogaard, M.J.20
Olsen, B.R.21
Warman, M.L.22
more..
|