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Showing 1–15 of 15 results
Advanced filters: Author: "Charis Eng" Clear advanced filters

  • Though several technical hurdles remain, effective and reliable genetic tests for multigene diseases should be available within the next five years.

    • Charis Eng
    • Jan Vijg
    Special Features
    Nature Biotechnology
    Volume: 15, P: 422-426

  • 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

  • There is a high frequency of germline mutations in patients with pheochromocytomas and paragangliomas. This article describes a patient with a pheochromocytoma and a novelSDHCmutation. The authors highlight the importance of genetic testing in patients with the pheochromocytoma–paraganglioma syndrome.

    • Mariola Pęczkowska
    • Alberto Cascon
    • Hartmut PH Neumann
    Reviews
    Nature Clinical Practice Endocrinology & Metabolism
    Volume: 4, P: 111-115

  • 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 childhood cancer neuroblastoma can either run in families or occur sporadically. Several studies find that the gene ALK is a chief offender in this disease, because its germline mutations mediate both forms.

    • Charis Eng
    News & Views
    Nature
    Volume: 455, P: 883-884

  • Phenomics is the systematic and meticulous collection, objective documentation and cataloguing of phenotypic data at many levels. This Review describes the possible uses of phenomics in cancer research, using the examples ofRET and PTENphenomics.

    • Kevin M. Zbuk
    • Charis Eng
    Reviews
    Nature Reviews Cancer
    Volume: 7, P: 35-45

  • 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

  • Testicular microlithiasis has been linked to the testicular dysgenesis syndrome, and is thought to be a precursor of testicular germ cell tumor. In this Review, the authors discuss the prevalence of testicular microlithiasis, and its pathogenesis, including a putative link with β–estradiol. They also consider the differing management strategies for three main patient groups diagnosed with testicular microlithiasis.

    • Min-Han Tan
    • Charis Eng
    Reviews
    Nature Reviews Urology
    Volume: 8, P: 153-163

  • Sporadic and hereditary forms of renal cell carcinoma, von Hippel–Lindau (VHL) disease and the familial paraganglioma syndromes are closely related in terms of their clinical and molecular genetic aspects. In this Review, the authors discuss pathogenesis, treatment and preventive strategies for VHL disease, VHL-disease-specific renal lesions, and familial paraganglioma syndromes.

    • Birke Bausch
    • Cordula Jilg
    • Hartmut P. H. Neumann
    Reviews
    Nature Reviews Nephrology
    Volume: 9, P: 529-538