-
1
-
-
0029090221
-
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
-
Ahn J, Ludecke H, Lindow S, Horton W, Lee B, Wagner M, Horsthemke B, et al (1995) Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet 11:137-143
-
(1995)
Nat Genet
, vol.11
, pp. 137-143
-
-
Ahn, J.1
Ludecke, H.2
Lindow, S.3
Horton, W.4
Lee, B.5
Wagner, M.6
Horsthemke, B.7
-
2
-
-
19144373472
-
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11
-
Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, et al (1996) Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11. Am J Hum Genet 58:734-742
-
(1996)
Am J Hum Genet
, vol.58
, pp. 734-742
-
-
Bartsch, O.1
Wuyts, W.2
Van Hul, W.3
Hecht, J.T.4
Meinecke, P.5
Hogue, D.6
Werner, W.7
-
3
-
-
0027295745
-
A suggested nomenclature for designated mutations
-
Beaudet A, Tsui L (1993) A suggested nomenclature for designated mutations. Hum Mutat 2:245-248
-
(1993)
Hum Mutat
, vol.2
, pp. 245-248
-
-
Beaudet, A.1
Tsui, L.2
-
4
-
-
0023181650
-
Rapid isolation of eukaryotic DNA
-
Bowtell D (1987) Rapid isolation of eukaryotic DNA. Anal Biochem 162:463-465
-
(1987)
Anal Biochem
, vol.162
, pp. 463-465
-
-
Bowtell, D.1
-
5
-
-
0027366989
-
Genetic heterogeneity in families with hereditary multiple exostoses
-
Cook A, Raskind W, Blanton SH, Pauli RM, Gregg RG, Francomano CA, Puffenberger E, et al (1993) Genetic heterogeneity in families with hereditary multiple exostoses. Am J Hum Genet 53:71-79
-
(1993)
Am J Hum Genet
, vol.53
, pp. 71-79
-
-
Cook, A.1
Raskind, W.2
Blanton, S.H.3
Pauli, R.M.4
Gregg, R.G.5
Francomano, C.A.6
Puffenberger, E.7
-
6
-
-
0027407911
-
The skipping of constitutive exons in vivo induced by nonsense mutations
-
Dietz H, Valle D, Francomano C, Kendzior R, Pyeritz R, Cutting G (1993) The skipping of constitutive exons in vivo induced by nonsense mutations. Science 259:680-683
-
(1993)
Science
, vol.259
, pp. 680-683
-
-
Dietz, H.1
Valle, D.2
Francomano, C.3
Kendzior, R.4
Pyeritz, R.5
Cutting, G.6
-
7
-
-
0027433113
-
Conformation-sensitive gel electrophoresis for rapid detection of single base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
-
Ganguly A, Rock M, Prockop D (1993) Conformation-sensitive gel electrophoresis for rapid detection of single base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90:10325-10329
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 10325-10329
-
-
Ganguly, A.1
Rock, M.2
Prockop, D.3
-
8
-
-
0027299882
-
A nonsense mutation and exon skipping in the Fanconi anaemia group C gene
-
Gibson R, Hajianpour A, Murer-Orlando A, Buchwald M, Mathew C (1993) A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. Hum Mol Genet 2: 797-799
-
(1993)
Hum Mol Genet
, vol.2
, pp. 797-799
-
-
Gibson, R.1
Hajianpour, A.2
Murer-Orlando, A.3
Buchwald, M.4
Mathew, C.5
-
9
-
-
0028917663
-
Hereditary multiple exostosis and chondrosarcomas: Linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8
-
Hecht JT, Hogue D, Strong LC, Hansen MF, Blanton SH, Wagner M (1995) Hereditary multiple exostosis and chondrosarcomas: linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8. Am J Hum Genet 56:1125-1131
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1125-1131
-
-
Hecht, J.T.1
Hogue, D.2
Strong, L.C.3
Hansen, M.F.4
Blanton, S.H.5
Wagner, M.6
-
10
-
-
0031020756
-
Hereditary multiple exostoses (EXT): Mutational studies of familial EXT1 cases and EXT-associated malignancies
-
Hecht JT, Hogue D, Wang Y, Blanton SH, Wagner M, Strong LC, Raskind W, et al (1997) Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. Am J Hum Genet 60:80-86
-
(1997)
Am J Hum Genet
, vol.60
, pp. 80-86
-
-
Hecht, J.T.1
Hogue, D.2
Wang, Y.3
Blanton, S.H.4
Wagner, M.5
Strong, L.C.6
Raskind, W.7
-
11
-
-
0025810316
-
Hereditary multiple exostoses
-
Hennekam R (1991) Hereditary multiple exostoses. J Med Genet 28:262-266
-
(1991)
J Med Genet
, vol.28
, pp. 262-266
-
-
Hennekam, R.1
-
12
-
-
0342464747
-
Mutational analysis of hereditary multiple exostoses-2 (EXT2)
-
Hogue DA, Clines G, Lovett M, Hansen MF, Hecht JT (1996) Mutational analysis of hereditary multiple exostoses-2 (EXT2). Am J Hum Genet Suppl 59:A263
-
(1996)
Am J Hum Genet Suppl
, vol.59
-
-
Hogue, D.A.1
Clines, G.2
Lovett, M.3
Hansen, M.F.4
Hecht, J.T.5
-
13
-
-
0023665343
-
A rapid method for the purification of DNA from blood
-
Jeanpierre M (1987) A rapid method for the purification of DNA from blood. Nucleic Acids Res 15:9611
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 9611
-
-
Jeanpierre, M.1
-
14
-
-
0030592517
-
Lessons from hereditary colorectal cancer
-
Kinzler K, Vogelstein B (1996) Lessons from hereditary colorectal cancer. Cell 87:159-170
-
(1996)
Cell
, vol.87
, pp. 159-170
-
-
Kinzler, K.1
Vogelstein, B.2
-
15
-
-
0015043748
-
Mutation and cancer: Statistical study of retinoblastoma
-
Knudson A Jr (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820-823
-
(1971)
Proc Natl Acad Sci USA
, vol.68
, pp. 820-823
-
-
Knudson Jr., A.1
-
16
-
-
0026794668
-
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
-
Krawczak M, Reiss J, Cooper D (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
-
(1992)
Hum Genet
, vol.90
, pp. 41-54
-
-
Krawczak, M.1
Reiss, J.2
Cooper, D.3
-
17
-
-
0028351625
-
A gene for hereditary multiple exostoses maps to chromosome 19p
-
Le Merrer M, Legeai-Mallet L, Jeannin P, Horsthemke B, Schinzel A, Plauchu H, Toutain A, et al (1994) A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet 3:717-722
-
(1994)
Hum Mol Genet
, vol.3
, pp. 717-722
-
-
Le Merrer, M.1
Legeai-Mallet, L.2
Jeannin, P.3
Horsthemke, B.4
Schinzel, A.5
Plauchu, H.6
Toutain, A.7
-
18
-
-
0031044914
-
An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses
-
Legeai-Mallet L, Margaritte-Jeannin P, Lemdani M, Le Merrer M, Plauchu H, Marotaux P, Munnich A, et al (1997) An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses. Hum Genet 99: 298-302
-
(1997)
Hum Genet
, vol.99
, pp. 298-302
-
-
Legeai-Mallet, L.1
Margaritte-Jeannin, P.2
Lemdani, M.3
Le Merrer, M.4
Plauchu, H.5
Marotaux, P.6
Munnich, A.7
-
19
-
-
0028604343
-
Spectrum of small length germline mutations in the RB1 gene
-
Lohmann D, Brandt B, Hopping W, Passarge E, Horsthemke B (1994) Spectrum of small length germline mutations in the RB1 gene. Hum Mol Genet 3:2187-2193
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2187-2193
-
-
Lohmann, D.1
Brandt, B.2
Hopping, W.3
Passarge, E.4
Horsthemke, B.5
-
21
-
-
0031106190
-
Genomic organization and promoter structure of the human EXT1 gene
-
Lüdecke H, Ahn J, Lin X, Hill A, Wagner M, Schomburg L, Horsthemke B, et al (1997) Genomic organization and promoter structure of the human EXT1 gene. Genomics 40: 351-354
-
(1997)
Genomics
, vol.40
, pp. 351-354
-
-
Lüdecke, H.1
Ahn, J.2
Lin, X.3
Hill, A.4
Wagner, M.5
Schomburg, L.6
Horsthemke, B.7
-
22
-
-
0028891703
-
Molecular dissection of a contiguous gene syndrome: Localization of the genes involved in the Langer-Giedion syndrome
-
Lüdecke H, Wagner M, Nardmann J, La Pillo B, Parrish J, Willems P, Haan E, et al (1995) Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. Hum Mol Genet 4:31-36
-
(1995)
Hum Mol Genet
, vol.4
, pp. 31-36
-
-
Lüdecke, H.1
Wagner, M.2
Nardmann, J.3
La Pillo, B.4
Parrish, J.5
Willems, P.6
Haan, E.7
-
23
-
-
0029835707
-
Defects in RNA splicing and the consequence of shortened translational reading frames
-
Maquat LE (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59:279-286
-
(1996)
Am J Hum Genet
, vol.59
, pp. 279-286
-
-
Maquat, L.E.1
-
24
-
-
16144368180
-
A polymorphic stop codon in BRCA2
-
Mazoyer S, Dunning A, Serova O, Dearden J, Puget N, Healey C, Gayther S, et al (1996) A polymorphic stop codon in BRCA2. Nat Genet 14:253-254
-
(1996)
Nat Genet
, vol.14
, pp. 253-254
-
-
Mazoyer, S.1
Dunning, A.2
Serova, O.3
Dearden, J.4
Puget, N.5
Healey, C.6
Gayther, S.7
-
25
-
-
0028091147
-
Loss of chromosome band 8q24 in sporadic osteocartilaginous exostoses
-
Mertens F, Rydholm A, Kreicbergs A, Willen H, Jonsson K, Heim S, Mitelman F, et al (1994) Loss of chromosome band 8q24 in sporadic osteocartilaginous exostoses. Genes Chromosom Cancer 9:8-12
-
(1994)
Genes Chromosom Cancer
, vol.9
, pp. 8-12
-
-
Mertens, F.1
Rydholm, A.2
Kreicbergs, A.3
Willen, H.4
Jonsson, K.5
Heim, S.6
Mitelman, F.7
-
26
-
-
0028222873
-
Construction of a novel database containing aberrant splicing mutations of mammalian genes
-
Nakai K, Sakamoto H (1994) Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene 141:171-177
-
(1994)
Gene
, vol.141
, pp. 171-177
-
-
Nakai, K.1
Sakamoto, H.2
-
27
-
-
0028916693
-
Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11
-
Raskind WH, Conrad EU, Chansky H, Matsushita M (1995) Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. Am J Hum Genet 56:1132-1139
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1132-1139
-
-
Raskind, W.H.1
Conrad, E.U.2
Chansky, H.3
Matsushita, M.4
-
28
-
-
4243516772
-
Spectrum of EXT1 mutations in hereditary multiple exostoses
-
Raskind WH, Matsushita M, Conrad EU, Wells D, Sandell L, Wagner M, Houck J (1996) Spectrum of EXT1 mutations in hereditary multiple exostoses. Am J Hum Genet Suppl 59:A280
-
(1996)
Am J Hum Genet Suppl
, vol.59
-
-
Raskind, W.H.1
Matsushita, M.2
Conrad, E.U.3
Wells, D.4
Sandell, L.5
Wagner, M.6
Houck, J.7
-
29
-
-
0027991209
-
The natural history of hereditary multiple exostoses
-
Schmale G, Conrad E, Raskind W (1994) The natural history of hereditary multiple exostoses. J Bone Joint Surg Am 76: 986-992
-
(1994)
J Bone Joint Surg Am
, vol.76
, pp. 986-992
-
-
Schmale, G.1
Conrad, E.2
Raskind, W.3
-
30
-
-
0000062817
-
Hereditary multiple exostosis
-
Solomon L (1963) Hereditary multiple exostosis. J Bone Joint Surg 45:292-304
-
(1963)
J Bone Joint Surg
, vol.45
, pp. 292-304
-
-
Solomon, L.1
-
31
-
-
0029764629
-
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes
-
Stickens D, Clines G, Burbee D, Ramos P, Thomas S, Hogue D, Hecht J, et al (1996) The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet 14:25-32
-
(1996)
Nat Genet
, vol.14
, pp. 25-32
-
-
Stickens, D.1
Clines, G.2
Burbee, D.3
Ramos, P.4
Thomas, S.5
Hogue, D.6
Hecht, J.7
-
32
-
-
0017031712
-
Hereditary multiple exostoses: Diaphyseal aclasis
-
Sugiura Y, Sugiura I, Iwata H (1976) Hereditary multiple exostoses: diaphyseal aclasis. Jpn J Hum Genet 21:149-167
-
(1976)
Jpn J Hum Genet
, vol.21
, pp. 149-167
-
-
Sugiura, Y.1
Sugiura, I.2
Iwata, H.3
-
33
-
-
0030891393
-
Identification of novel mutations in the human EXT1 tumor suppressor gene
-
Wells DE, Hill A, Lin X, Ahn J, Brown N, Wagner JE (1997) Identification of novel mutations in the human EXT1 tumor suppressor gene. Hum Genet 99:612-615
-
(1997)
Hum Genet
, vol.99
, pp. 612-615
-
-
Wells, D.E.1
Hill, A.2
Lin, X.3
Ahn, J.4
Brown, N.5
Wagner, J.E.6
-
34
-
-
0031051305
-
Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family
-
Wise C, Clines G, Massa H, Trask B, Lovett M (1997) Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. Genome Res 7: 10-16
-
(1997)
Genome Res
, vol.7
, pp. 10-16
-
-
Wise, C.1
Clines, G.2
Massa, H.3
Trask, B.4
Lovett, M.5
-
35
-
-
0029047022
-
Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11
-
Wuyts W, Ramlakhan S, Van Hul W, Hecht J, van den Ouweland AMW, Raskind WH, Hofstede FC, et al (1995) Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. Am J Hum Genet 57:382-387
-
(1995)
Am J Hum Genet
, vol.57
, pp. 382-387
-
-
Wuyts, W.1
Ramlakhan, S.2
Van Hul, W.3
Hecht, J.4
Van Den Ouweland, A.M.W.5
Raskind, W.H.6
Hofstede, F.C.7
-
36
-
-
10144253124
-
Positional cloning of a gene involved in hereditary multiple exostoses
-
Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul E, De Boule K, et al (1996) Positional cloning of a gene involved in hereditary multiple exostoses. Hum Mol Genet 5:1547-1557
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1547-1557
-
-
Wuyts, W.1
Van Hul, W.2
Wauters, J.3
Nemtsova, M.4
Reyniers, E.5
Van Hul, E.6
De Boule, K.7
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