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Volumn 99, Issue 1, 2001, Pages 59-62

Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses

(10) Seki, Hiroshi a Kubota, Takeo a,g Ikegawa, Shiro b Haga, Nobuhiko c Fujioka, Fumio b Ohzeki, Satoru d Wakui, Keiko e Yoshikawa, Hideki f Takaoka, Kunio a Fukushima, Yoshimitsu a

a SHINSHU UNIVERSITY SCHOOL OF MEDICINE (Japan)

b UNIVERSITY OF TOKYO (Japan)

c SHIZUOKA CHILDREN'S HOSPITAL (Japan)

d NAGANO CHILDREN'S HOSPITAL (Japan)

e DOKKYO UNIVERSITY SCHOOL OF MEDICINE (Japan)

f OSAKA UNIVERSITY MEDICAL SCHOOL (Japan)

g NATIONAL INSTITUTE OF NEUROSCIENCE (Japan)

Author keywords

EXT1; EXT2; Hereditary multiple exostoses; Japanese patients; Mutation screening

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DISEASE; CLINICAL ARTICLE; EXOSTOSIS; FAMILY STUDY; GENE MUTATION; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; HUMAN CELL; JAPAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

DNA; DNA MUTATIONAL ANALYSIS; EXOSTOSES, MULTIPLE HEREDITARY; FAMILY HEALTH; FEMALE; GENE FREQUENCY; HUMANS; JAPAN; MALE; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS;

EID: 0035866027 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/1096-8628(20010215)99:1<59::AID-AJMG1115>3.0.CO;2-Z Document Type: Article

Times cited : (34)

References (22)

1
- 0029090221
- Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
- (1995) Nat Genet , vol.11 , pp. 137-143
- Ahn, J.¹ Lüdecke, H.J.² Lindow, S.³ Horton, W.A.⁴ Lee, B.⁵ Wagner, M.J.⁶ Horsthemke, B.⁷ Wells, D.E.⁸

2
- 0031612929
- Recommendation for a nomenclature system for human gene mutations
- (1998) Hum Mutat , vol.11 , pp. 1-3
- Antonarakis, S.E.¹

3
- 4243519844
- Hereditary multiple exostoses (HME) in a Dutch pedigree not linked to the loci EXT1, EXT2, EXT3: Shows suggestive linkage for the EXT4 gene on chromosome 17q
- (1997) Am J Hum Genet , vol.61
- Bakker, E.¹ Vilerius, M.² Van der Linden, A.J.³ Cabral, A.⁴ Van Hul, W.⁵ Van Haeringen, A.⁶

4
- 0032474837
- Tout-velu is a Drosophila homologue of the putative tumour suppressor EXT1 and is needed for Hh diffusion
- (1998) Nature , vol.394 , pp. 85-88
- Bellaiche, Y.¹ The, I.² Perrimon, N.³

5
- 0033362450
- EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas
- (1999) Am J Hum Genet , vol.65 , pp. 689-698
- Bovee, J.V.¹ Cleton-Jansen, A.M.² Wuyts, W.³ Caethoven, G.⁴ Taminiau, A.H.⁵ Bakker, E.⁶ Van Hul, W.⁷ Cornelisse, C.J.⁸ Hogendoorn, P.C.⁹

6
- 0027366989
- Genetic heterogeneity in families with hereditary multiple exostoses
- (1993) Am J Hum Genet , vol.53 , pp. 71-79
- Cook, A.¹ Raskind, W.² Blanton, S.H.³ Pauli, R.⁴ Gregg, R.G.⁵ Francomano, C.⁶ Puffenberger, E.⁷ Conrad, E.U.⁸ Schmale, G.⁹ Schellenberg, G.¹⁰ Wijsman, E.¹¹ Hecht, J.T.¹² Wells, D.¹³ Wagner, M.J.¹⁴

7
- 0031020756
- Hereditary multiple exostoses (EXT): Mutational studies of familial EXT1 cases and EXT-associated malignancies
- (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 Hansen, M.F.⁸ Wells, D.⁹

8
- 0031133081
- Methylation-specific PCR simplifies imprinting analysis
- (1997) Nat Genet , vol.16 , pp. 16-17
- Kubota, T.¹ Das, S.² Christian, S.L.³ Baylin, S.B.⁴ Herman, J.G.⁵ Ledbetter, D.H.⁶

9
- 0030829353
- Incomplete penetrance and expressivity skewing in hereditary multiple exostoses
- (1997) Clin Genet , vol.52 , pp. 12-16
- Legeai-Mallet, L.¹ Munnich, A.² Maroteaux, P.³ Le Merrer, M.⁴

10
- 0028351625
- A gene for hereditary multiple exostoses maps to chromosome 19p
- (1994) Hum Mol Genet , vol.3 , pp. 717-722
- Le Merrer, M.¹ Legeai-Mallet, L.² Jeannin, P.M.³ Horsthemke, B.⁴ Schinzel, A.⁵ Plauchu, H.⁶ Toutain, A.⁷ Achard, F.⁸ Munnich, A.⁹ Maroteaux, P.¹⁰

11
- 0032500662
- The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosyntheses of heparan sulfate
- (1998) J Biol Chem , vol.273 , pp. 26265-26268
- Lind, T.¹ Tufaro, F.² McCormick, C.³ Lindahl, U.⁴ Lidholt, K.⁵

12
- 0028908915
- Natural history study of hereditary multiple exostoses
- (1995) Am J Med Genet , vol.55 , pp. 43-46
- Luckert-Wicklund, C.¹ Pauli, R.M.² Johnston, D.³ Hecht, J.T.⁴

13
- 0031837107
- The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate
- (1998) Nat Genet , vol.19 , pp. 158-161
- McCormick, C.¹ Leduc, Y.² Martindale, D.³ Mattison, K.⁴ Esford, L.E.⁵ Dyer, A.P.⁶ Tufaro, F.⁷

14
- 13044316711
- Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses
- (1999) J Hum Genet , vol.44 , pp. 230-234
- Park, K.J.¹ Shin, K.H.² Ku, J.L.³ Cho, T.J.⁴ Lee, S.H.⁵ Choi, I.H.⁶ Phillipe, C.⁷ Monaco, A.P.⁸ Porter, D.E.⁹ Park, J.G.¹⁰

15
- 0030859390
- Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses
- (1997) Am J Hum Genet , vol.61 , pp. 520-528
- Philippe, C.¹ Porter, D.E.² Emerton, M.E.³ Wells, D.E.⁴ Simpson, A.H.R.W.⁵ Monaco, A.P.⁶

16
- 0031594163
- Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses
- (1998) Hum Mutat , vol.11 , pp. 231-239
- Raskind, W.H.¹ Conrad III, E.U.² Matsushita, M.³ Wijsman, E.M.⁴ Wells, D.E.⁵ Chapman, N.⁶ Sandell, L.J.⁷ Wagner, M.⁸ Houck, J.⁹

17
- 0029764629
- The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes
- (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.T.⁷ Lovett, M.⁸ Evans, G.A.⁹

18
- 0030891393
- Identification of novel mutations in the human EXT1 tumor suppressor gene
- (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, M.J.⁶

19
- 0028047748
- Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11
- (1994) Hum Mol Genet , vol.3 , pp. 167-171
- Wu, Y.Q.¹ Heutink, P.² De Vries, B.B.A.³ Sandkuijl, L.A.⁴ Van den Ouweland, A.M.W.⁵ Niermeijer, M.F.⁶ Galjaard, H.⁷ Reyniers, E.⁸ Willems, P.J.⁹ Halley, D.J.J.¹⁰

20
- 10144253124
- Positional cloning of a gene involved in hereditary multiple exostoses
- (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.V.⁶ De Boulle, K.⁷ De Vries, B.B.⁸ Hendrickx, J.⁹ Herrygers, I.¹⁰ Bossuyt, P.¹¹ Balemans, W.¹² Fransen, E.¹³ Vits, L.¹⁴ Coucke, P.¹⁵ Nowak, N.J.¹⁶ Shows, T.B.¹⁷ Mallet, L.¹⁸ Van den Ouweland, A.M.¹⁹ McGaughran, J.²⁰ Halley, D.J.²¹ Willems, P.J.²² more..

21
- 17344369553
- Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses
- (1998) Am J Hum Genet , vol.62 , pp. 346-354
- Wuyts, W.¹ Van Hul, W.² De Boulle, K.³ Hendrickx, J.⁴ Bakker, E.⁵ Vanhoenacker, F.⁶ Mollica, F.⁷ Ludecke, H.J.⁸ Sayli, B.S.⁹ Pazzaglia, U.E.¹⁰ Mortier, G.¹¹ Hamel, B.¹² Conrad, E.U.¹³ Matsushita, M.¹⁴ Raskind, W.H.¹⁵ Willems, P.J.¹⁶

22
- 0032808501
- Mutation analysis of hereditary multiple exostoses in the Chinese
- (1999) Hum Genet , vol.105 , pp. 45-50
- Xu, L.¹ Xia, J.² Jiang, H.³ Zhou, J.⁴ Li, H.⁵ Wang, D.⁶ Pan, Q.⁷ Long, Z.⁸ Fan, C.⁹ Deng, H.X.¹⁰

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.