DOI: 10.1086/515505. Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses

Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses

10.1086/515505

Crossref journal-article

Elsevier BV

The American Journal of Human Genetics (78)

Bibliography

Philippe, C., Porter, D. E., Emerton, M. E., Wells, D. E., Hamish, A., Simpson, R. W., & Monaco, A. P. (1997). Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses. The American Journal of Human Genetics, 61(3), 520â528.

Authors 7

Christophe Philippe (first)
Daniel E. Porter (additional)
Mark E. Emerton (additional)
Dan E. Wells (additional)
A. Hamish (additional)
R.W. Simpson (additional)
Anthony P. Monaco (additional)

References 36 Referenced 96

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{'key': '10.1086/515505_bib2', 'first-page': '734', 'article-title': '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', 'volume': '58', 'author': 'Bartsch', 'year': '1996', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / 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 by Bartsch (1996)
10.1002/humu.1380020402 / Hum Mutat / A suggested nomenclature for designated mutations by Beaudet (1993)
10.1016/0003-2697(87)90421-0 / Anal Biochem / Rapid isolation of eukaryotic DNA by Bowtell (1987)
{'key': '10.1086/515505_bib5', 'first-page': '71', 'article-title': 'Genetic heterogeneity in families with hereditary multiple exostoses', 'volume': '53', 'author': 'Cook', 'year': '1993', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Genetic heterogeneity in families with hereditary multiple exostoses by Cook (1993)
10.1126/science.8430317 / Science / The skipping of constitutive exons in vivo induced by nonsense mutations by Dietz (1993)
10.1073/pnas.90.21.10325 / Proc Natl Acad Sci USA / 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 hetero-duplexes by Ganguly (1993)
10.1093/hmg/2.6.797 / Hum Mol Genet / A nonsense mutation and exon skipping in the Fanconi anaemia group C gene by Gibson (1993)
{'key': '10.1086/515505_bib9', 'first-page': '1125', 'article-title': 'Hereditary multiple exostosis and chondrosarcomas: linkage to chromosome 11 and loss of hetero-zygosity for EXT-linked markers on chromosomes 11 and 8', 'volume': '56', 'author': 'Hecht', 'year': '1995', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Hereditary multiple exostosis and chondrosarcomas: linkage to chromosome 11 and loss of hetero-zygosity for EXT-linked markers on chromosomes 11 and 8 by Hecht (1995)
{'key': '10.1086/515505_bib10', 'first-page': '80', 'article-title': 'Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies', 'volume': '60', 'author': 'Hecht', 'year': '1997', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies by Hecht (1997)
10.1136/jmg.28.4.262 / J Med Genet / Hereditary multiple exostoses by Hennekam (1991)
{'key': '10.1086/515505_bib12', 'first-page': 'A263', 'article-title': 'Mutational analysis of hereditary multiple exostoses-2 (EXT2)', 'volume': '59', 'author': 'Hogue', 'year': '1996', 'journal-title': 'Am J Hum Genet Suppl'} / Am J Hum Genet Suppl / Mutational analysis of hereditary multiple exostoses-2 (EXT2) by Hogue (1996)
10.1093/nar/15.22.9611 / Nucleic Acids Res / A rapid method for the purification of DNA from blood by Jeanpierre (1987)
10.1016/S0092-8674(00)81333-1 / Cell / Lessons from hereditary colorectal cancer by Kinzler (1996)
10.1073/pnas.68.4.820 / Proc Natl Acad Sci USA / Mutation and cancer: statistical study of retinoblastoma by Knudson (1971)
10.1007/BF00210743 / Hum Genet / The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences by Krawczak (1992)
10.1093/hmg/3.5.717 / Hum Mol Genet / A gene for hereditary multiple exostoses maps to chromosome 19p by Le Merrer (1994)
10.1007/s004390050361 / Hum Genet / An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses by Legeai-Mallet (1997)
10.1093/hmg/3.12.2187 / Hum Mol Genet / Spectrum of small length germline mutations in the RB1 gene by Lohmann (1994)
10.1002/ajmg.1320550113 / Am J Med Genet / Natural history study of hereditary multiple exostoses by Luckert-Wicklund (1995)
10.1006/geno.1996.4577 / Genomics / Genomic organization and promoter structure of the human EXT1 gene by Lüdecke (1997)
10.1093/hmg/4.1.31 / Hum Mol Genet / Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome by Lüdecke (1995)
{'key': '10.1086/515505_bib23', 'first-page': '279', 'article-title': 'Defects in RNA splicing and the consequence of shortened translational reading frames', 'volume': '59', 'author': 'Maquat', 'year': '1996', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Defects in RNA splicing and the consequence of shortened translational reading frames by Maquat (1996)
10.1038/ng1196-253 / Nat Genet / A polymorphic stop codon in BRCA2 by Mazoyer (1996)
10.1002/gcc.2870090103 / Genes Chromosom Cancer / Loss of chromosome band 8q24 in sporadic osteocartilaginous exostoses by Mertens (1994)
10.1016/0378-1119(94)90567-3 / Gene / Construction of a novel data-base containing aberrant splicing mutations of mammalian genes by Nakai (1994)
{'key': '10.1086/515505_bib27', 'first-page': '1132', 'article-title': 'Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11', 'volume': '56', 'author': 'Raskind', 'year': '1995', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11 by Raskind (1995)
{'key': '10.1086/515505_bib28', 'first-page': 'A280', 'article-title': 'Spectrum of EXT1 mutations in hereditary multiple exostoses', 'volume': '59', 'author': 'Raskind', 'year': '1996', 'journal-title': 'Am J Hum Genet Suppl'} / Am J Hum Genet Suppl / Spectrum of EXT1 mutations in hereditary multiple exostoses by Raskind (1996)
10.2106/00004623-199407000-00005 / J Bone Joint Surg Am / The natural history of hereditary multiple exostoses by Schmale (1994)
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10.1038/ng0996-25 / Nat Genet / The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes by Stickens (1996)
{'key': '10.1086/515505_bib32', 'first-page': '149', 'article-title': 'Hereditary multiple exostoses: diaphyseal aclasis', 'volume': '21', 'author': 'Sugiura', 'year': '1976', 'journal-title': 'Jpn J Hum Genet'} / Jpn J Hum Genet / Hereditary multiple exostoses: diaphyseal aclasis by Sugiura (1976)
10.1007/s004390050415 / Hum Genet / Identification of novel mutations in the human EXT1 tumor suppressor gene by Wells (1997)
10.1101/gr.7.1.10 / Genome Res / Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family by Wise (1997)
{'key': '10.1086/515505_bib35', 'first-page': '382', 'article-title': 'Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11', 'volume': '57', 'author': 'Wuyts', 'year': '1995', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11 by Wuyts (1995)
10.1093/hmg/5.10.1547 / Hum Mol Genet / Positional cloning of a gene involved in hereditary multiple exostoses by Wuyts (1996)

Dates

Type	When
Created	17 years, 8 months ago (Dec. 4, 2007, 2:39 p.m.)
Deposited	6 years, 3 months ago (May 5, 2019, 10:35 a.m.)
Indexed	4 weeks, 1 day ago (Aug. 5, 2025, 8:45 a.m.)
Issued	28 years ago (Sept. 1, 1997)
Published	28 years ago (Sept. 1, 1997)
Published Print	28 years ago (Sept. 1, 1997)

Funders 0

None

BibTeX

@article{Philippe_1997, title={Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses}, volume={61}, ISSN={0002-9297}, url={http://dx.doi.org/10.1086/515505}, DOI={10.1086/515505}, number={3}, journal={The American Journal of Human Genetics}, publisher={Elsevier BV}, author={Philippe, Christophe and Porter, Daniel E. and Emerton, Mark E. and Wells, Dan E. and Hamish, A. and Simpson, R.W. and Monaco, Anthony P.}, year={1997}, month=sep, pages={520–528} }

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