Advanced search

Filter By:

Journal Check one or more journals to show results from those journals only.

Choose more journals

Article type Check one or more article types to show results from those article types only.
Subject Check one or more subjects to show results from those subjects only.
Date Choose a date option to show results from those dates only.

Custom date range

Clear all filters
Sort by:
Showing 1–5 of 5 results
Advanced filters: Author: "C. Eng" Clear advanced filters

  • Germline mutations inPTEN result in the uncommon Cowden Syndrome. Heterozygous mutations of SDH B, C and D are associated with the hereditary pheochromocytoma–paraganglioma syndrome. Zbuk et al. present the first-reported case of a woman with both PTEN and SDHCmutations, which resulted in multiple neoplasias. The authors highlight the need for predictive genetic tests and close clinical surveillance of patients with suspected Cowden or pheochromocytoma–paraganglioma syndromes.

    • Kevin M Zbuk
    • Attila Patocs
    • Charis Eng
    Reviews
    Nature Clinical Practice Oncology
    Volume: 4, P: 608-612

  • Children with Down syndrome who develop transient myeloproliferative disorder or acute megakaryoblastic leukemia harbor somatic mutations in theGATA1 gene, a phenomenon specific to this syndrome. Heald and colleagues report the first case of a stillborn fetus with Down syndrome-associated acute megakaryoblastic leukemia/transient myeloproliferative disorder and a GATA1mutation. The authors discuss the management of fetuses with suspected or confirmed diagnosis of Down syndrome and highlight the need for genetic screening and counseling based on maternal age.

    • Brandie Heald
    • Joanne M Hilden
    • Charis Eng
    Reviews
    Nature Clinical Practice Oncology
    Volume: 4, P: 433-438

  • The implementation of array comparative genomic hybridization in clinical practice has helped to identify syndromes in patients that were previously unsuspected. This Case Study describes a patient with mental retardation who was found to have an interstitial deletion of chromosome 5 encompassing the adenomatous polyposis coli tumor suppressor locus, with major implications for her care and management.

    • Brandie Heald
    • Rocio Moran
    • Charis Eng
    Reviews
    Nature Clinical Practice Neurology
    Volume: 3, P: 694-700

  • The authors of this Review discuss the diagnosis, clinical features and genetics of the hamartomatous polyposis syndromes, as well as the risk of malignancy associated with each syndrome and appropriate surveillance recommendations. Other disorders associated with the presence of hamartomatous polyps are briefly discussed, along with the potential for targeted therapy of hamartomatous polyposis syndromes.

    • Kevin M Zbuk
    • Charis Eng
    Reviews
    Nature Clinical Practice Gastroenterology & Hepatology
    Volume: 4, P: 492-502