D
Deborah J. Marsh
Researcher at University of Technology, Sydney
Publications - 140
Citations - 13574
Deborah J. Marsh is an academic researcher from University of Technology, Sydney. The author has contributed to research in topics: Germline mutation & PTEN. The author has an hindex of 53, co-authored 133 publications receiving 12837 citations. Previous affiliations of Deborah J. Marsh include University of Zurich & Kolling Institute of Medical Research.
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Journal ArticleDOI
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome
Danny Liaw,Deborah J. Marsh,Jing Li,Patricia L. M. Dahia,Steven I. Wang,Z. Zheng,Shikha Bose,K. M. Call,Hui C. Tsou,Monica Peacocke,Charis Eng,Ramon Parsons +11 more
TL;DR: Mutational analysis of PTEN in CD kindreds has identified germline mutations that are predicted to disrupt the protein tyrosine/dual-specificity phosphatase domain of this gene, and implies that PTEN may play a role in organizing the relationship of different cell types within an organ during development.
Journal ArticleDOI
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.
Charis Eng,Charis Eng,David Clayton,I Schuffenecker,Gilbert M. Lenoir,Gilbert J. Cote,Robert F. Gagel,Hans Kristian Ploos van Amstel,Cornelis J.M. Lips,Isamu Nishisho,Shin ichiro Takai,Deborah J. Marsh,Deborah J. Marsh,Bruce G. Robinson,Karin Frank-Raue,Friedhelm Raue,Feiyu Xue,Walter W. Noll,Cristina Romei,Furio Pacini,Monika Fink,Bruno Niederle,Jan Zedenius,Magnus Nordenskjöld,Paul Komminoth,Geoffrey N. Hendy,Hossein Gharib,Stephen N. Thibodeau,André Lacroix,Andrea Frilling,Bruce A.J. Ponder,Bruce A.J. Ponder,Lois M. Mulligan +32 more
TL;DR: It is suggested that genotype-phenotype correlations do exist and, if made reliably absolute, could prove useful in the future in clinical management with respect to screening, surveillance, and prophylaxis, as well as provide insight into the genetic effects of particular mutations.
Journal ArticleDOI
Germline mutations in PTEN are present in Bannayan-Zonana syndrome.
Deborah J. Marsh,Patricia L. M. Dahia,Zimu Zheng,Danny Liaw,Ramon Parsons,Robert J. Gorlin,Charis Eng,Charis Eng +7 more
Journal ArticleDOI
Mutation Spectrum and Genotype-Phenotype Analyses in Cowden Disease and Bannayan-Zonana Syndrome, Two Hamartoma Syndromes With Germline PTEN Mutation
Deborah J. Marsh,Valérie Coulon,Kathryn L. Lunetta,Philippe Rocca-Serra,Patricia L. M. Dahia,Zimu Zheng,Danny Liaw,Stacey Caron,Bernadette Duboué,Albert Y. Lin,Anne Louise Richardson,Jean Marie Bonnetblanc,Jean Marie Bressieux,Agnés Cabarrot-Moreau,Agnès Chompret,Liliane Demange,Rosalind A. Eeles,Alan M. Yahanda,Eric R. Fearon,Jean Pierre Fricker,Robert J. Gorlin,Shirley Hodgson,Susan Huson,Didier Lacombe,Frédéric Leprat,Sylvie Odent,Claude Toulouse,Olufunmilayo I. Olopade,Hagay Sobol,Sigrid Tishler,C. Geoffrey Woods,Bruce G. Robinson,H. Christian Weber,Ramon Parsons,Monica Peacocke,Michel Longy,Charis Eng,Charis Eng +37 more
TL;DR: There appeared to be an interdependent association between mutations upstream and within the PTPase core motif, the core motif containing the majority of missense mutations, and the involvement of all major organ systems (central nervous system, thyroid, breast, skin and gastrointestinal tract).
Journal ArticleDOI
Clinical presentation and penetrance of Pheochromocytoma/ Paraganglioma syndromes.
Diana E. Benn,Anne Paule Gimenez-Roqueplo,Jennifer R. Reilly,Jérôme Bertherat,John Burgess,Karen Byth,Michael S. Croxson,Patricia L. M. Dahia,Marianne S. Elston,Oliver Gimm,David Henley,Philippe Herman,Victoria Murday,Patricia Niccoli-Sire,Janice L. Pasieka,Vincent Rohmer,Katherine M. Tucker,Xavier Jeunemaitre,Deborah J. Marsh,Pierre-François Plouin,Bruce G. Robinson,Bruce G. Robinson +21 more
TL;DR: SDHB mutation carriers were more likely than SDHD mutation carriers to develop extraadrenal pheochromocytomas and malignant disease, whereas SD HD mutation carriers had a greater propensity to develop head and neck paragangliomas and multiple tumors.