-
1
-
-
0000062817
-
Hereditary multiple exostosis
-
Solomon L. Hereditary multiple exostosis. J. Bone Joint Surg. A. 45:1963;292-304.
-
(1963)
J. Bone Joint Surg. A
, vol.45
, pp. 292-304
-
-
Solomon, L.1
-
2
-
-
0023245358
-
Hereditary multiple exostosis. A comparative human-equine-epidemiologic study
-
Leone N.C.et al. Hereditary multiple exostosis. A comparative human-equine-epidemiologic study. J. Hered. 78:1987;171-177.
-
(1987)
J. Hered.
, vol.78
, pp. 171-177
-
-
Leone, N.C.1
-
3
-
-
0025810316
-
Hereditary multiple exostoses
-
Hennekam R.C. Hereditary multiple exostoses. J. Med. Genet. 28:1991;262-266.
-
(1991)
J. Med. Genet.
, vol.28
, pp. 262-266
-
-
Hennekam, R.C.1
-
6
-
-
0027366989
-
Genetic heterogeneity in families with hereditary multiple exostoses
-
Cook A.et al. Genetic heterogeneity in families with hereditary multiple exostoses. Am. J. Hum. Genet. 53:1993;71-79.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 71-79
-
-
Cook, A.1
-
8
-
-
0021185576
-
The tricho-rhino-phalangeal syndrome(s): Chromosome 8 long arm deletion: Is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: Are they separate entities?
-
Buhler E.M., Malik N.J. The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities? Am. J. Med. Genet. 19:1984;113-119.
-
(1984)
Am. J. Med. Genet.
, vol.19
, pp. 113-119
-
-
Buhler, E.M.1
Malik, N.J.2
-
9
-
-
0026326502
-
Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome
-
Ludecke H.J.et al. Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. Am. J. Hum. Genet. 49:1991;1197-1206.
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 1197-1206
-
-
Ludecke, H.J.1
-
10
-
-
0026093627
-
Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome
-
Parrish J.E.et al. Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome. Genomics. 11:1991;54-61.
-
(1991)
Genomics
, vol.11
, pp. 54-61
-
-
Parrish, J.E.1
-
11
-
-
0028047748
-
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11
-
Wu Y.Q.et al. Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. Hum. Mol. Genet. 3:1994;167-171.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 167-171
-
-
Wu, Y.Q.1
-
12
-
-
0028351625
-
A gene for hereditary multiple exostoses maps to chromosome 19p
-
LeMerrer M.et al. A gene for hereditary multiple exostoses maps to chromosome 19p. Hum. Mol. Genet. 3:1994;717-722.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 717-722
-
-
LeMerrer, M.1
-
13
-
-
0029090221
-
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
-
Ahn J.et al. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat. Genet. 11:1995;137-143.
-
(1995)
Nat. Genet.
, vol.11
, pp. 137-143
-
-
Ahn, J.1
-
14
-
-
0030803946
-
Isolation of the mouse cDNA homologous to the human EXT1 gene responsible for hereditary multiple exostoses
-
Lin X., Wells D. Isolation of the mouse cDNA homologous to the human EXT1 gene responsible for hereditary multiple exostoses. DNA Seq. 7:1997;199-202.
-
(1997)
DNA Seq.
, vol.7
, pp. 199-202
-
-
Lin, X.1
Wells, D.2
-
15
-
-
0029764629
-
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes
-
Stickens D.et al. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat. Genet. 14:1996;25-32.
-
(1996)
Nat. Genet.
, vol.14
, pp. 25-32
-
-
Stickens, D.1
-
16
-
-
10144253124
-
Positional cloning of a gene involved in hereditary multiple exostoses
-
Wuyts W.et al. Positional cloning of a gene involved in hereditary multiple exostoses. Hum. Mol. Genet. 5:1996;1547-1557.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1547-1557
-
-
Wuyts, W.1
-
17
-
-
0030994835
-
The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans
-
Clines G.A., Ashley J.A., Shah S., Lovett M. The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans. Genome Res. 7:1997;359-367.
-
(1997)
Genome Res.
, vol.7
, pp. 359-367
-
-
Clines, G.A.1
Ashley, J.A.2
Shah, S.3
Lovett, M.4
-
18
-
-
0031171512
-
Isolation and characterization of the murine homolog of the human EXT2 multiple exostoses gene
-
Stickens D., Evans G.A. Isolation and characterization of the murine homolog of the human EXT2 multiple exostoses gene. Biochem. Mol. Med. 61:1997;16-21.
-
(1997)
Biochem. Mol. Med.
, vol.61
, pp. 16-21
-
-
Stickens, D.1
Evans, G.A.2
-
19
-
-
0031020756
-
Hereditary multiple exostoses (EXT): Mutational studies of familial EXT1 cases and EXT-associated malignancies
-
Hecht J.T.et al. Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. Am. J. Hum. Genet. 60:1997;80-86.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 80-86
-
-
Hecht, J.T.1
-
20
-
-
0030859390
-
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses
-
Philippe C.et al. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. Am. J. Hum. Genet. 61:1997;520-528.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 520-528
-
-
Philippe, C.1
-
21
-
-
0030891393
-
Identification of novel mutations in the human EXT1 tumor suppressor gene
-
Wells D.E.et al. Identification of novel mutations in the human EXT1 tumor suppressor gene. Hum. Genet. 99:1997;612-615.
-
(1997)
Hum. Genet.
, vol.99
, pp. 612-615
-
-
Wells, D.E.1
-
22
-
-
0031594163
-
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses
-
Raskind W.H.et al. Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. Hum. Mutat. 11:1998;231-239.
-
(1998)
Hum. Mutat.
, vol.11
, pp. 231-239
-
-
Raskind, W.H.1
-
23
-
-
17344369553
-
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses
-
Wuyts W.et al. Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. Am. J. Hum. Genet. 62:1998;346-354.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 346-354
-
-
Wuyts, W.1
-
24
-
-
0028917663
-
Hereditary multiple exostosis and chondrosarcoma: Linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8
-
Hecht J.T.et al. Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. Am. J. Hum. Genet. 56:1995;1125-1131.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1125-1131
-
-
Hecht, J.T.1
-
25
-
-
0028916693
-
Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11
-
Raskind W.H., Conrad E.U., Chansky H., Matsushita M. Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. Am. J. Hum. Genet. 56:1995;1132-1139.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1132-1139
-
-
Raskind, W.H.1
Conrad, E.U.2
Chansky, H.3
Matsushita, M.4
-
26
-
-
0031051305
-
Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family
-
Wise C.A.et al. Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. Genome Res. 7:1997;10-16.
-
(1997)
Genome Res.
, vol.7
, pp. 10-16
-
-
Wise, C.A.1
-
27
-
-
13144275255
-
Identification and characterization of a novel member of the EXT gene family, EXTL2
-
Wuyts W.et al. Identification and characterization of a novel member of the EXT gene family, EXTL2. Eur. J. Hum. Genet. 5:1997;382-389.
-
(1997)
Eur. J. Hum. Genet.
, vol.5
, pp. 382-389
-
-
Wuyts, W.1
-
28
-
-
0032518417
-
Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family
-
Van Hul W.et al. Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family. Genomics. 47:1998;230-237.
-
(1998)
Genomics
, vol.47
, pp. 230-237
-
-
Van Hul, W.1
-
29
-
-
0031005576
-
Osteoprotegerin: A novel secreted protein involved in the regulation of bone density
-
Simonet W.S.et al. Osteoprotegerin: a novel secreted protein involved in the regulation of bone density. Cell. 89:1997;309-319.
-
(1997)
Cell
, vol.89
, pp. 309-319
-
-
Simonet, W.S.1
-
30
-
-
0030593032
-
Bone morphogenetic protein-1: The type 1 procollagen C-proteinase
-
Kessler E.et al. Bone morphogenetic protein-1: the type 1 procollagen C-proteinase. Science. 271:1996;360-362.
-
(1996)
Science
, vol.271
, pp. 360-362
-
-
Kessler, E.1
-
31
-
-
0024507583
-
Partial primary structure of the 48- and 90-kilodalton core proteins of cell surface-associated heparan sulfate proteoglycans of lung fibroblasts. Prediction of an integral membrane domain and evidence for multiple distinct core proteins at the cell surface of human lung fibroblasts
-
Marynen P.et al. Partial primary structure of the 48- and 90-kilodalton core proteins of cell surface-associated heparan sulfate proteoglycans of lung fibroblasts. Prediction of an integral membrane domain and evidence for multiple distinct core proteins at the cell surface of human lung fibroblasts. J. Biol. Chem. 264:1989;7017-7024.
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 7017-7024
-
-
Marynen, P.1
-
32
-
-
0031837107
-
The putative tumor suppressor EXT1 alters the expression of heparan sulfate
-
McCormick C.et al. The putative tumor suppressor EXT1 alters the expression of heparan sulfate. Nat. Genet. 19:1998;158-161.
-
(1998)
Nat. Genet.
, vol.19
, pp. 158-161
-
-
McCormick, C.1
-
33
-
-
0032581395
-
Expression and functional analysis of mouse EXT1, a homolog of the human multiple exostoses type 1 gene
-
Lin X., Gan L., Klein W.H., Wells D. Expression and functional analysis of mouse EXT1, a homolog of the human multiple exostoses type 1 gene. Biochem. Biophys. Res. Commun. 248:1998;738-743.
-
(1998)
Biochem. Biophys. Res. Commun.
, vol.248
, pp. 738-743
-
-
Lin, X.1
Gan, L.2
Klein, W.H.3
Wells, D.4
-
35
-
-
0031810446
-
A sugar fix for bone tumors?
-
Stickens D., Evans G.A. A sugar fix for bone tumors? Nat. Genet. 19:1998;110-111.
-
(1998)
Nat. Genet.
, vol.19
, pp. 110-111
-
-
Stickens, D.1
Evans, G.A.2
-
36
-
-
0032500662
-
The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate
-
Lind T.et al. The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. J. Biol. Chem. 273:1998;26265-26268.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 26265-26268
-
-
Lind, T.1
-
37
-
-
0033553525
-
The tumor suppressor EXT-like gene EXTL2 encodes an α1, 4-N-acetylhexosaminyltransferase that transfers N-acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region
-
Kitagawa H., Shimakawa H., Sugahara K. The tumor suppressor EXT-like gene EXTL2 encodes an α1, 4-N-acetylhexosaminyltransferase that transfers N-acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region. J. Biol. Chem. 274:1999;13933-13937.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 13933-13937
-
-
Kitagawa, H.1
Shimakawa, H.2
Sugahara, K.3
-
38
-
-
0026685854
-
Biology of the syndecans: A family of transmembrane heparan sulfate proteoglycans
-
Bernfield M.et al. Biology of the syndecans: a family of transmembrane heparan sulfate proteoglycans. Annu. Rev. Cell Biol. 8:1992;365-393.
-
(1992)
Annu. Rev. Cell Biol.
, vol.8
, pp. 365-393
-
-
Bernfield, M.1
-
39
-
-
0032996450
-
Control of bone growth by fibroblast growth factors
-
De Luca F., Baron J. Control of bone growth by fibroblast growth factors. Trends Endocrinol. Metab. 10:1999;61-65.
-
(1999)
Trends Endocrinol. Metab.
, vol.10
, pp. 61-65
-
-
De Luca, F.1
Baron, J.2
-
40
-
-
0032532263
-
Syndecan-3 in limb skeletal development
-
Kosher R.A. Syndecan-3 in limb skeletal development. Microsc. Res. Tech. 43:1998;123-130.
-
(1998)
Microsc. Res. Tech.
, vol.43
, pp. 123-130
-
-
Kosher, R.A.1
-
41
-
-
0032523191
-
Syndecan-1 is a multifunctional regulator of myeloma pathobiology: Control of tumor cell survival, growth, and bone cell differentiation
-
Dhodapkar M.V.et al. Syndecan-1 is a multifunctional regulator of myeloma pathobiology: control of tumor cell survival, growth, and bone cell differentiation. Blood. 91:1998;2679-2688.
-
(1998)
Blood
, vol.91
, pp. 2679-2688
-
-
Dhodapkar, M.V.1
-
42
-
-
0027964261
-
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
-
Shiang R.et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 78:1994;335-342.
-
(1994)
Cell
, vol.78
, pp. 335-342
-
-
Shiang, R.1
-
43
-
-
17344364096
-
Targeted disruption of the biglycan gene leads to an osteoporosis-like phenotype in mice
-
Xu T.et al. Targeted disruption of the biglycan gene leads to an osteoporosis-like phenotype in mice. Nat. Genet. 20:1998;78-82.
-
(1998)
Nat. Genet.
, vol.20
, pp. 78-82
-
-
Xu, T.1
-
44
-
-
0029257552
-
The importance of being sulphated
-
Wallis G.A. The importance of being sulphated. Curr. Biol. 5:1995;225-227.
-
(1995)
Curr. Biol.
, vol.5
, pp. 225-227
-
-
Wallis, G.A.1
-
45
-
-
9344241375
-
PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth
-
Lanske B.et al. PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science. 273:1996;663-666.
-
(1996)
Science
, vol.273
, pp. 663-666
-
-
Lanske, B.1
-
46
-
-
0029750190
-
Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein
-
Vortkamp A.et al. Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science. 273:1996;613-622.
-
(1996)
Science
, vol.273
, pp. 613-622
-
-
Vortkamp, A.1
-
47
-
-
0032474837
-
Tout-velu is a Drosophila homologue of the putative tumour suppressor EXT-1 and is needed for Hh diffusion
-
Bellaiche Y., The I., Perrimon N. Tout-velu is a Drosophila homologue of the putative tumour suppressor EXT-1 and is needed for Hh diffusion. Nature. 394:1998;85-88.
-
(1998)
Nature
, vol.394
, pp. 85-88
-
-
Bellaiche, Y.1
The, I.2
Perrimon, N.3
-
48
-
-
0032474908
-
Boning up on hedgehog's movements
-
Ingham P.W. Boning up on hedgehog's movements. Nature. 394:1998;16-17.
-
(1998)
Nature
, vol.394
, pp. 16-17
-
-
Ingham, P.W.1
-
49
-
-
0031647779
-
Genetic analysis of functions for cell surface proteoglycans
-
Selleck S. Genetic analysis of functions for cell surface proteoglycans. Matrix Biol. 17:1998;473-476.
-
(1998)
Matrix Biol.
, vol.17
, pp. 473-476
-
-
Selleck, S.1
-
50
-
-
0029001840
-
In vivo transfer of GPI-linked complement restriction factors from erythrocytes to the endothelium
-
Kooyman D.L.et al. In vivo transfer of GPI-linked complement restriction factors from erythrocytes to the endothelium. Science. 269:1995;89-92.
-
(1995)
Science
, vol.269
, pp. 89-92
-
-
Kooyman, D.L.1
-
51
-
-
0033073851
-
Hyperparathyroidism-jaw tumor syndrome: The HRPT2 locus is within a 0.7-cM region on chromosome 1q
-
Hobbs M.R.et al. Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q. Am. J. Hum. Genet. 64:1999;518-525.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 518-525
-
-
Hobbs, M.R.1
-
52
-
-
0032231715
-
Evidence for a novel osteosarcoma tumor-suppressor gene in the chromosome 18 region genetically linked with Paget disease of bone
-
Nellissery M.J.et al. Evidence for a novel osteosarcoma tumor-suppressor gene in the chromosome 18 region genetically linked with Paget disease of bone. Am. J. Hum. Genet. 63:1998;817-824.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 817-824
-
-
Nellissery, M.J.1
-
53
-
-
0033119006
-
Differential transactivation by alternative EWS-FLI1 fusion proteins correlates with clinical heterogeneity in Ewing's sarcoma
-
Lin P.P.et al. Differential transactivation by alternative EWS-FLI1 fusion proteins correlates with clinical heterogeneity in Ewing's sarcoma. Cancer Res. 59:1999;1428-1432.
-
(1999)
Cancer Res.
, vol.59
, pp. 1428-1432
-
-
Lin, P.P.1
|