R
Ruth Pojer
Researcher at Royal North Shore Hospital
Publications - 6
Citations - 439
Ruth Pojer is an academic researcher from Royal North Shore Hospital. The author has contributed to research in topics: Germline mutation & Point mutation. The author has an hindex of 5, co-authored 6 publications receiving 428 citations. Previous affiliations of Ruth Pojer include University of Sydney.
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Journal ArticleDOI
Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma.
Deborah J. Marsh,Diana L. Learoyd,Diana L. Learoyd,Scott D. Andrew,Lalitha Krishnan,Ruth Pojer,Anne Louise Richardson,Anne Louise Richardson,Leigh Delbridge,Leigh Delbridge,Charis Eng,Charis Eng,Bruce G. Robinson,Bruce G. Robinson +13 more
TL;DR: The frequency of specific mutations in the RET proto‐oncogene in sporadic medullary thyroid carcinomas in MTCs are determined and the presence or absence of a codon 918 mutation with the clinical characteristics of these tumours is correlated.
Journal Article
Germline and Somatic Mutations in an Oncogene: RET Mutations in Inherited Medullary Thyroid Carcinoma
Deborah J. Marsh,Scott D. Andrew,Charis Eng,Charis Eng,Diana L. Learoyd,Diana L. Learoyd,Amanda G. Capes,Amanda G. Capes,Ruth Pojer,Ann Louise Richardson,Carol Houghton,Lois M. Mulligan,Bruce A.J. Ponder,Bruce G. Robinson,Bruce G. Robinson +14 more
TL;DR: It is suggested that the presence of a somatic mutation, in addition to the preexisting germline mutation in hereditary MTCs, may contribute to tumorigenesis in vivo.
Journal ArticleDOI
A rapid screening method for the detection of mutations in the RET proto-oncogene in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma families
Deborah J. Marsh,Bruce G. Robinson,Bruce G. Robinson,Scott D. Andrew,Anne Louise Richardson,Ruth Pojer,Ruth Pojer,Margaret Schnitzler,Margaret Schnitzler,Lois M. Mulligan,Lois M. Mulligan,Valentine J. Hyland,Valentine J. Hyland +12 more
TL;DR: In this article, the authors employed restriction endonuclease digestion of polymerase chain reaction products as an alternative to sequence analysis for rapid identification of mutant gene carriers in families in which MEN2A and FMTC are segregating.
Journal ArticleDOI
Does iron affect osteoblast function? Studies in vitro and in patients with chronic liver disease.
TL;DR: In this article, the role of trace elements as potential osteoblastic toxins, such as aluminum, copper, and iron, was investigated in 106 patients with chronic liver disease and showed that these trace elements are associated with osteoblast perimeters.