相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Stratification of Wilms tumor by genetic and epigenetic analysis
Richard H. Scott et al.
Oncotarget (2015)
Germ-line and somatic DICER1 mutations in pineoblastoma
Leanne de Kock et al.
ACTA NEUROPATHOLOGICA (2014)
Addressing the Ethical Challenges in Genetic Testing and Sequencing of Children
Ellen Wright Clayton et al.
AMERICAN JOURNAL OF BIOETHICS (2014)
Childhood and adolescent cancer statistics, 2014
Elizabeth Ward et al.
CA-A CANCER JOURNAL FOR CLINICIANS (2014)
Diagnostic Delay and Sociodemographic Predictors of Stage at Diagnosis and Mortality in Unilateral and Bilateral Retinoblastoma
Marco A. Ramirez-Ortiz et al.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION (2014)
Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium
Doua Bakry et al.
EUROPEAN JOURNAL OF CANCER (2014)
Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families
Kory W. Jasperson et al.
FAMILIAL CANCER (2014)
Attitudes of parents toward the return of targeted and incidental genomic research findings in children
Conrad V. Fernandez et al.
GENETICS IN MEDICINE (2014)
Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight Board
Ingrid A. Holm et al.
GENETICS IN MEDICINE (2014)
Cancer Genomics and Inherited Risk
Zsofia K. Stadler et al.
JOURNAL OF CLINICAL ONCOLOGY (2014)
A Framework for Analyzing the Ethics of Disclosing Genetic Research Findings
Lisa Eckstein et al.
JOURNAL OF LAW MEDICINE & ETHICS (2014)
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium Care for CMMR-D (C4CMMR-D)
H. F. A. Vasen et al.
JOURNAL OF MEDICAL GENETICS (2014)
Realizing the promise of cancer predisposition genes
Nazneen Rahman
NATURE (2014)
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
Hao Hu et al.
NATURE BIOTECHNOLOGY (2014)
Judicious DICER1 Testing and Surveillance Imaging Facilitates Early Diagnosis and Cure of Pleuropulmonary Blastoma
Kris Ann P. Schultz et al.
PEDIATRIC BLOOD & CANCER (2014)
A Pathogenic Mosaic TP53 Mutation in Two Germ Layers Detected by Next Generation Sequencing
Sam Behjati et al.
PLOS ONE (2014)
Molecular Findings in BeckwithWiedemann Syndrome
Sanaa Choufani et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2013)
Next-Generation Sequencing Platforms
Elaine R. Mardis
ANNUAL REVIEW OF ANALYTICAL CHEMISTRY, VOL 6 (2013)
Return of Individual Research Results and Incidental Findings: Facing the Challenges of Translational Science
Susan M. Wolf
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 14 (2013)
Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and Lynch syndrome
P. Barrow et al.
BRITISH JOURNAL OF SURGERY (2013)
Translating Genomics to the Clinic: Implications of Cancer Heterogeneity
Nardin Samuel et al.
CLINICAL CHEMISTRY (2013)
The role of high-throughput technologies in clinical cancer genomics
Saad F. Idris et al.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2013)
Attitudes of Canadian researchers toward the return to participants of incidental and targeted genomic findings obtained in a pediatric research setting
Conrad V. Fernandez et al.
GENETICS IN MEDICINE (2013)
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C. Green et al.
GENETICS IN MEDICINE (2013)
Technical report: ethical and policy issues in genetic testing and screening of children
Laine Friedman Ross et al.
GENETICS IN MEDICINE (2013)
The evolution of treatment for Wilms tumor
Daniel M. Green
JOURNAL OF PEDIATRIC SURGERY (2013)
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia
Sohela Shah et al.
NATURE GENETICS (2013)
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas
Miriam J. Smith et al.
NATURE GENETICS (2013)
Update on pediatric cancer predisposition syndromes
Joshua D. Schiffman et al.
PEDIATRIC BLOOD & CANCER (2013)
Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
Darcy A. Krueger et al.
PEDIATRIC NEUROLOGY (2013)
Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma
Jared J. Gartner et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Ethics and Genomic Incidental Findings
Amy L. McGuire et al.
SCIENCE (2013)
Succinate Dehydrogenase Mutation Underlies Global Epigenomic Divergence in Gastrointestinal Stromal Tumor
J. Keith Killian et al.
CANCER DISCOVERY (2013)
Epigenetic Changes in Pediatric Solid Tumors: Promising New Targets
Elizabeth R. Lawlor et al.
CLINICAL CANCER RESEARCH (2012)
Gene-gene interactions in breast cancer susceptibility
Clare Turnbull et al.
HUMAN MOLECULAR GENETICS (2012)
Interpreting noncoding genetic variation in complex traits and human disease
Lucas D. Ward et al.
NATURE BIOTECHNOLOGY (2012)
Next-generation sequencing in the clinic: are we ready?
Leslie G. Biesecker et al.
NATURE REVIEWS GENETICS (2012)
Somatic HIF2A Gain-of-Function Mutations in Paraganglioma with Polycythemia
Zhengping Zhuang et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Hereditary Cancer Risk Assessment in a Pediatric Oncology Follow-Up Clinic
Sara Knapke et al.
PEDIATRIC BLOOD & CANCER (2012)
Exploring the endocrine manifestations of DICER1 mutations
Catherine S. Choong et al.
TRENDS IN MOLECULAR MEDICINE (2012)
Consensus Statement From the First International Colloquium on Basal Cell Nevus Syndrome (BCNS)
Alanna F. Bree et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study
P-R Rothschild et al.
EYE (2011)
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study
Anita Villani et al.
LANCET ONCOLOGY (2011)
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
Inaki Comino-Mendez et al.
NATURE GENETICS (2011)
A decade of exploring the cancer epigenome - biological and translational implications
Stephen B. Baylin et al.
NATURE REVIEWS CANCER (2011)
Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
Astrid Rasmussen et al.
BMC MEDICAL GENETICS (2010)
Evaluation of established breast cancer risk factors as modifiers of BRCA1 or BRCA2: a multi-center case-only analysis
Patricia G. Moorman et al.
BREAST CANCER RESEARCH AND TREATMENT (2010)
Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants Updated Guidelines From a National Heart, Lung, and Blood Institute Working Group
Richard R. Fabsitz et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2010)
Surveillance in von Hippel-Lindau disease (vHL)
M. L. M. Poulsen et al.
CLINICAL GENETICS (2010)
Discovering Tumor Suppressor Genes Through Genome-Wide Copy Number Analysis
S. Michael Rothenberg et al.
CURRENT GENOMICS (2010)
Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits
C. R. M. Lammens et al.
FAMILIAL CANCER (2010)
Guidelines for colorectal cancer screening and surveillance in moderate and high risk groups (update from 2002)
Stuart R. Cairns et al.
GUT (2010)
Advances in understanding cancer genomes through second-generation sequencing
Matthew Meyerson et al.
NATURE REVIEWS GENETICS (2010)
Canadian Ophthalmological Society evidence-based clinical practice guidelines for the management of glaucoma in the adult eye / Guide factuel de pratique clinique de la Société canadienne d'ophtalmologie pour la gestion du glaucome chez l'adulte
CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE (2009)
DICER1 Mutations in Familial Pleuropulmonary Blastoma
D. Ashley Hill et al.
SCIENCE (2009)
Array comparative genomic hybridization copy number profiling: A new tool for translational research in solid malignancies
Jose Luis Costa et al.
SEMINARS IN RADIATION ONCOLOGY (2008)
Clinical and molecular characteristics of malignant transformation of low-grade glioma in children
Alberto Broniscer et al.
JOURNAL OF CLINICAL ONCOLOGY (2007)
Optic pathway gliomas in neurofibromatosis-1: Controversies and recommendations
Robert Listernick et al.
ANNALS OF NEUROLOGY (2007)
Stage of presentation and visual outcome of patients screened for familial retinoblastoma: nationwide registration in the Netherlands
SM Imhof et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2006)
Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: A critical review of the evidence and suggested guidelines for local practice
Tiong Y. Tan et al.
JOURNAL OF PAEDIATRICS AND CHILD HEALTH (2006)
Management of the patient and family with neurofibromatosis 2: a consensus conference statement
DGR Evans et al.
BRITISH JOURNAL OF NEUROSURGERY (2005)
Serum α-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia
CL Clericuzio et al.
JOURNAL OF PEDIATRICS (2003)
Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations
H Meijers-Heijboer et al.
NATURE GENETICS (2002)
Guidelines for diagnosis and therapy of MEN type 1 and type 2
ML Brandi et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2001)
Screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndromes: A cost-effective model
DE McNeil et al.
MEDICAL AND PEDIATRIC ONCOLOGY (2001)