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13 results on '"Ponder, Margaret A."'

3. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A

Author

Mulligan, Lois M., Kwok, John B.J., Healey, Catherine S., Elsdon, Mark J., Eng, Charis, Gardner, Emily, Love, Donald R., Mole, Sara E., Moore, Julie K., Papi, Laura, Ponder, Margaret A., Telenius, Hakan, Tunnacliffe, Alan, and Ponder, Bruce A.J.

Subjects
Tumors -- Growth, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Multiple endocrine neoplasia type 2A (MEN 2A) is a prevalent cancer syndrome affecting the neural ectodermal derived tissues. Medullary Thyroid Carcinoma (MTC) and phaeochromocytoma are characteristic of the MEN 2A. At lower levels of the human thyroid and in MTC and phaeochromocytoma, a receptor tyrosine kinase gene, the RET photo-oncogene, is invested in the DNA segment. A recent study identified 20 RET proto-oncogene missense mutations from 23 apparently distinct MEN 2A families, but not in 23 normal controls. Of the 20 mutations, 19 affect similar conserved cysteine residue of the RET extracellular and transmembrane domains at the boundary.

Published
1993

4. Familial Site-specific Ovarian Cancer Is Linked to BRCA1 on 17q12-21

Author

Steichen-Gersdorf, Elisabeth, Gallion, Holly H., Ford, Deborah, Girodet, Catherine, Easton, Douglas F., DiCioccio, Richard A., Evans, Gareth, Ponder, Margaret A., Pye, Carole, Mazoyer, Sylvie, Noguchi, Tetsuro, Karengueven, Fabienne, Sobol, Hagay, Hardouin, A., Bignon, Yves-Jean, Piver, M. Steven, Smith, Simon A., and Ponder, Bruce A. J.

Subjects
Ovarian Neoplasms, Polymorphism, Genetic, endocrine system diseases, BRCA1 Protein, Genetic Linkage, Original Articles, Polymerase Chain Reaction, Neoplasm Proteins, Pedigree, Haplotypes, Humans, Female, Lod Score, skin and connective tissue diseases, Chromosomes, Human, Pair 17, Transcription Factors, Research Article
Abstract

In a study of nine families with “site-specific” ovarian cancer (criterion: three or more cases of epithelial ovarian cancer and no cases of breast cancer diagnosed at age

Published
1994

6. Mutation of the RET protooncogene in sporadic medullary thyroid carcinoma

Author

Eng, Charis, primary, Mulligan, Lois M., additional, Smith, Darrin P., additional, Healey, Catherine S., additional, Frilling, Andrea, additional, Raue, Friedhelm, additional, Neumann, Hartmut P. H., additional, Pfragner, Roswitha, additional, Behmel, Annemarie, additional, Lorenzo, Maria J., additional, Stonehouse, Timothy J., additional, Ponder, Margaret A., additional, and Ponder, Bruce A. J., additional

Published
1995
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8. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

Author

Mulligan, Lois M., primary, Eng, Charis, additional, Healey, Catherine S., additional, Clayton, David, additional, Kwok, John B.J., additional, Gardner, Emily, additional, Ponder, Margaret A., additional, Frilling, Andrea, additional, Jackson, Charles E., additional, Lehnert, Hendrik, additional, Neumann, Hartmut P.H., additional, Thibodeau, Stephen N., additional, and Ponder, Bruce A.J., additional

Published
1994
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9. Haplotype analysis of MEN 2 mutations

Author

Gardner, Emily, primary, Mulligan, Lois M., additional, Eng, Charis, additional, Healey, Catherine S., additional, Kwok, John B.J., additional, Ponder, Margaret A., additional, and Ponder, Bruce A.J., additional

Published
1994
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11. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours

Author

Eng, Charis, primary, SmIth, Darrin P., additional, MullIgan, Lois M., additional, Nagal, Maria A., additional, Healey, Catherine S., additional, Ponder, Margaret A., additional, Gardner, Emily, additional, Scheumann, Georg F.W., additional, Jackson, CharIes E., additional, Tunnacllffe, Alan, additional, and Ponder, Bruce A.J., additional

Published
1994
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12. Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2

Author

Gardner, Emily, primary, Papi, Laura, additional, Easton, Douglas F., additional, Cummings, Tim, additional, Jackson, Charles E., additional, Kaplan, Michael, additional, Love, Donald R., additional, Mole, Sara E., additional, Moore, Julie K., additional, Mulligan, Lois M., additional, Norum, Robert A., additional, Ponder, Margaret A., additional, Reichlin, Seymour, additional, Stall, Glenn, additional, Telenius, Håkan, additional, Telenius-Berg, Margareta, additional, Tunnacliffe, Alan, additional, and Ponder, Bruce A.J., additional

Published
1993
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