Search

Your search keyword '"Thibodeau S"' showing total 10 results
Start Over Author "Thibodeau S" Language undetermined
10 results on '"Thibodeau S"'

1. Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum

Author

Dominguez-Valentin M., Sampson J. R., Moller P., Seppala T. T., Plazzer J. -P., Nakken S., Engel C., Aretz S., Jenkins M. A., Sunde L., Bernstein I., Capella G., Balaguer F., Thomas H., Evans D. G., Burn J., Greenblatt M., Hovig E., Nielsen M., de Vos tot Nederveen Cappel W. H., Sijmons R. H., Bertario L., Tibiletti M. G., Cavestro G. M., Lindblom A., Valle A. D., Lopez-Kostner F., Gluck N., Katz L. H., Heinimann K., Vaccaro C. A., Buttner R., Gorgens H., Holinski-Feder E., Morak M., Holzapfel S., Huneburg R., von Knebel Doeberitz M., Loeffler M., Rahner N., Weitz J., Steinke-Lange V., ten Broeke S. W., Schmiegel W., Vangala D., Pylvanainen K., Renkonen-Sinisalo L., Hopper J. L., Win A. K., Haile R. W., Lindor N. M., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J. C., Thibodeau S. N., Jensen L. H., Madsen M. B., Kroldrup L., Nilbert M., Moreira L., Sanchez A., Serra-Burriel M., Pineda M., Navarro M., Vidal J. B., Blanco I., Green K., Lalloo F., Crosbie E. J., Hill J., Denton O. G., Rodland E. A., Vasen H., Mints M., Neffa F., Esperon P., Alvarez K., Kariv R., Rosner G., Pinero T. A., Gonzalez M. L., Kalfayan P., Tjandra D., Winship I. M., Macrae F., Moslein G., Mecklin J. -P., Dominguez-Valentin, M., Sampson, J. R., Moller, P., Seppala, T. T., Plazzer, J. -P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., Nielsen, M., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Valle, A. D., Lopez-Kostner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., von Knebel Doeberitz, M., Loeffler, M., Rahner, N., Weitz, J., Steinke-Lange, V., ten Broeke, S. W., Schmiegel, W., Vangala, D., Pylvanainen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Jensen, L. H., Madsen, M. B., Kroldrup, L., Nilbert, M., Moreira, L., Sanchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Vidal, J. B., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Rodland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Moslein, G., and Mecklin, J. -P.

Subjects
Male, Adult, Oncology, Cancer Research, 2019-20 coronavirus outbreak, medicine.medical_specialty, sarcoma, Databases, Factual, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Sarcoma/diagnosis, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Humans, Medicine, Aged, business.industry, Sarcoma, Syndrome, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, MSH2, 030220 oncology & carcinogenesis, Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis, Female, 030211 gastroenterology & hepatology, business
Published
2020
Full Text
View/download PDF

3. First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations

Author

Rosa, M., Dourisboure, R. J., Morelli, G., Graziano, A., Gutiérrez, A., Thibodeau, S., Halling, K., Avila, K. C., Duraturo, F., Podesta, E. J., Paola Izzo, Solano, A. R., DE ROSA, Marina, Dourisboure, R. J., Morelli, G., Graziano, A., Gutiérrez, A., Thibodeau, S., Halling, K., Collia Avila, K., Duraturo, Francesca, Podesta, E. J., Izzo, Paola, and Solano, A. R.

Subjects
Adult, Genes, APC, Adolescent, Genotype, Argentinian, DNA Mutational Analysis, Argentina, FAP, colorectal cancer, Middle Aged, familial adenomatous polyposi, APC, Adenomatous Polyposis Coli, Child, Preschool, Mutation, Humans, Germ-Line Mutation
Abstract

We examined the adenomatous polyposis coli (APC) gene for disease-causing mutations in 51 unrelated Argentinean probands affected by familial adenomatous polyposis (FAP). Using a combination of the protein truncation test, the single strand conformation polymorphism technique, DNA sequencing and quantitative PCR analysis, we identified the specific mutation in 39 (average age: 28.4 years) of the 51 probands (detection rate: 76.47%); 13 are novel germline mutations and one is a novel sequence variant. There were 27 small deletions, four small duplications, five nonsense mutations in exon 15, three nonsense mutations in exons 6, 11, and 12, and one sequence variant in exon 3 identified in a patient bearing a truncating mutation in exon 15. The most common mutation (found in 10 cases) was at codon 1309. All patients negative for APC mutations were also negative for the MutY homolog (MYH) gene mutation, as expected because of fully penetrant FAP cases. This study enlarges the spectrum of APC gene mutations, and reinforces the concept of mutation heterogeneity. It also sheds light on correlations between the site of APC germline mutations and the clinical manifestations of FAP. Our data indicate that the genotype/phenotype correlations in Argentinean patients are similar to those observed in other populations.

5. An intronic region within the human factor VIII gene is duplicated within Xq28 and is homologous to the polymorphic locus DXS115 (767)

Author

Patterson M, Gitschier J, Bloomfield J, Bell M, Huw Dorkins, Froster-Iskenius U, Sommer S, Sobell J, Schaid D, and Thibodeau S

Subjects
Electrophoresis, Factor VIII, Polymorphism, Genetic, X Chromosome, Genetic Linkage, Fragile X Syndrome, Multigene Family, Chromosome Mapping, Humans, Original Articles, Chromosome Deletion, Introns, Polymorphism, Restriction Fragment Length
Abstract

The genomic sequences recognized by the anonymous probe 767 (DXS115) are localized to two sites within Xq28. One site lies within intron 22 of the factor VIII gene (FBC). Physical mapping suggests that the second site lies within 1.2 megabases of the F8C gene. The RFLPs detected by 767 are located within the second site. Genetic data suggest that F8C and DXS115 are tightly linked (theta max = .04; Zmax = 8.30). Recombination events in meioses informative for DXS52 (St14), DXS115, and F8C suggest that DXS115 and F8C lie distal to DXS52.

6. Correspondence re: C. R. Boland et al., A National Cancer Institute Workshop on Microsatellite Instability for Cancer Detection and Familial Predisposition: Development of International Criteria for the Determination of Microsatellite Instability in Colorectal Cancer. Cancer Res., 58: 5248- 5257, 1998 (multiple letters)

Author

Perucho, M., Boland, C. R., Thibodeau, S. N., Hamilton, S. R., Sidransky, D., Burr, R. W., Meltzer, A. J., Rodriguez-Bigas, M. A., Riccardo Fodde, Ranzani, G. N., and Srivastava, S.

7. Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome

Author

Suthers, G. K., Mulley, J. C., Voelckel, M. A., Dahl, N., Vaisanen, M. L., Steinbach, P., Glass, I. A., Schwartz, C. E., Oost, B. A., Thibodeau, S. N., Haites, N. E., Oostra, B. A., Gine, R., Carballo, M., Phillip Morris, Hopwood, J. J., and Sutherland, G. R.

Subjects
Recombination, Genetic, X Chromosome, Genetic Linkage, Fragile X Syndrome, Mutation, Chromosome Mapping, Humans, Original Articles, DNA, DNA Probes, Polymorphism, Restriction Fragment Length, Pedigree
Abstract

The fragile X syndrome is the most common cause of familial mental retardation and is characterized by a fragile site at the end of the long arm of the X chromosome. The unusual genetics and cytogenetics of this X-linked condition make genetic counseling difficult. DNA studies were of limited value in genetic counseling, because the nearest polymorphic DNA loci had recombination fractions of 12% or more with the fragile X mutation, FRAXA. Five polymorphic loci have recently been described in this region of the X chromosome. The positions of these loci in relation to FRAXA were defined in a genetic linkage study of 112 affected families. The five loci--DXS369, DXS297, DXS296, IDS, and DXS304--had recombination fractions of 4% or less with FRAXA. The closest locus, DXS296, was distal to FRAXA and had a recombination fraction of 2%. The polymorphisms at these loci can be detected in DNA enzymatically digested with a limited number of restriction endonucleases. A strategy for DNA studies which is based on three restriction endonucleases and on five probes will detect one or more of these polymorphisms in 94% of women. This strategy greatly increases the utility of DNA studies in providing genetic advice to families with the fragile X syndrome.

8. H63D is an haemochromatosis associated allele (multiple letters)

Author

Fairbanks, V. F., Brandhagen, D. J., Thibodeau, S. N., Snow, K., Wollan, P. C., Worwood, M., Bowen, D. J., Burnett, A. K., Jackson, H. A., Lawless, S., Raha- Chowdhury, R., Shearman, J. D., Wallace, D. F., Dooley, J. S., Partridge, J., Walker, A. P., Bomford, A., Rosenberg, W. M. C., Merryweather-Clarke, A. T., Robson, K. J. H., Pointon, J. J., Powell, L. W., and Stefano Goldwurm

Catalog

Books, media, physical & digital resources
See catalog results