Margaret A. Ponder | Researchain

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Featured researches published by Margaret A. Ponder.

Clinical Endocrinology | 1995

Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma

Charls Eng; Lois M. Mulligan; Darrin P. Smith; Catherine S. Healey; Andrea Frilling; Friedhelm Raue; Hartmut P. H. Neumann; Margaret A. Ponder; Bruce A.J. Ponder

BACKGROUND AND OBJECTIVES Medullary thyroid carcinoma (MTC) occurs both sporadically and In the autosomal domlnantly inherited multiple endocrine neoplasia (MEN) type 2 syndromes. The distinction between true sporadic MTC and a new mutation familial case is important for future clinical managment of both the patient and family. The susceptibility gene for MEN 2 is theRET proto‐oncogene. Systematic analysis for germ‐line mutations of theRET proto‐oncogene was performed in a series of 67 patients with apparently sporadic MTC to determine whether they were true sporadic cases or unsuspected de novo MEN 2 cases.

Nature | 1993

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

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

Nature Genetics | 1994

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

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

Human Molecular Genetics | 1994

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

Charis Eng; Darrin P. Smith; Lois M. Mulligan; Maria A. Nagal; Catherine S. Healey; Margaret A. Ponder; E. Gardner; G. F. W. Scheumann; CharIes E. Jackson; Alan Tunnacllffe; Bruce A.J. Ponder

Oncogene | 1995

A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC.

Charis Eng; Darrin P. Smith; Lois M. Mulligan; Catherine S. Healey; M. J. Zvelebil; T. J. Stonehouse; Margaret A. Ponder; C. E. Jackson; M. D. Waterfield; Bruce Aj Ponder

Genes, Chromosomes and Cancer | 1995

Mutation of the RET protooncogene in sporadic medullary thyroid carcinoma

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

Genes, Chromosomes and Cancer | 1992

Loss of NF1 alleles in phaeochromocytomas from patients with type 1 neurofibromatosis

W. Xu; Lois M. Mulligan; Margaret A. Ponder; Lu Liu; Bruce A.J. Ponder; B. A. Smith; Chris Mathew

Human Molecular Genetics | 1993

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

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

Human Molecular Genetics | 1994

Direct, non-radioactive detection of mutations in Multiple Endocrine Neoplasia Type 2A families

Robert McMahon; Lois M. Mulligan; Catherine S. Healey; Stewart J. Payne; Margaret A. Ponder; Malcolm A. Ferguson-Smith; David E. Barton; Bruce A.J. Ponder

Human Molecular Genetics | 1994