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。Inferring copy number and genotype in tumour exome data
Kaushalya C. Amarasinghe et al.
BMC GENOMICS (2014)
Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas
Aideen M. McInerney-Leo et al.
CLINICAL ENDOCRINOLOGY (2014)
Opposing effects of HIF1α and HIF2α on chromaffin cell phenotypic features and tumor cell proliferation: Insights from MYC-associated factor X
Nan Qin et al.
INTERNATIONAL JOURNAL OF CANCER (2014)
H-RAS Mutations Are Restricted to Sporadic Pheochromocytomas Lacking Specific Clinical or Pathological Features: Data From a Multi-Institutional Series
Lindsey Oudijk et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
Germline FH Mutations Presenting With Pheochromocytoma
Graeme R. Clark et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
Glioblastoma Cells Containing Mutations in the Cohesin Component STAG2 Are Sensitive to PARP Inhibition
Melanie L. Bailey et al.
MOLECULAR CANCER THERAPEUTICS (2014)
Discovery and saturation analysis of cancer genes across 21 tumour types
Michael S. Lawrence et al.
NATURE (2014)
Loss of CDKN2A expression is a frequent event in primary invasive melanoma and correlates with sensitivity to the CDK4/6 inhibitor PD0332991 in melanoma cell lines
Richard J. Young et al.
PIGMENT CELL & MELANOMA RESEARCH (2014)
Development of synchronous VHL syndrome tumors reveals contingencies and constraints to tumor evolution
Rosalie Fisher et al.
GENOME BIOLOGY (2014)
Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity
Patricia L. M. Dahia
NATURE REVIEWS CANCER (2014)
virtualArray: a R/bioconductor package to merge raw data from different microarray platforms
Andreas Heider et al.
BMC BIOINFORMATICS (2013)
SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma
Eric Letouze et al.
CANCER CELL (2013)
Interplay between the Cancer Genome and Epigenome
Hui Shen et al.
CELL (2013)
Criteria for Inference of Chromothripsis in Cancer Genomes
Jan O. Korbel et al.
CELL (2013)
In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas
Rodrigo A. Toledo et al.
ENDOCRINE-RELATED CANCER (2013)
Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis
Inaki Comino-Mendez et al.
HUMAN MOLECULAR GENETICS (2013)
Somatic Mutations in H-RAS in Sporadic Pheochromocytoma and Paraganglioma Identified by Exome Sequencing
Joakim Crona et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)
Exomic Sequencing of Medullary Thyroid Cancer Reveals Dominant and Mutually Exclusive Oncogenic Mutations in RET and RAS
Nishant Agrawal et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)
The genomic landscape of small intestine neuroendocrine tumors
Michaela S. Banck et al.
JOURNAL OF CLINICAL INVESTIGATION (2013)
In Brief: Chromothripsis and cancer
Alexander W. Wyatt et al.
JOURNAL OF PATHOLOGY (2013)
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
Kristian Cibulskis et al.
NATURE BIOTECHNOLOGY (2013)
Deciphering Signatures of Mutational Processes Operative in Human Cancer
Ludmil B. Alexandrov et al.
CELL REPORTS (2013)
Molecular Mechanisms of Fragile X Syndrome: A Twenty-Year Perspective
Michael R. Santoro et al.
ANNUAL REVIEW OF PATHOLOGY: MECHANISMS OF DISEASE, VOL 7 (2012)
SomaticSniper: identification of somatic point mutations in whole genome sequencing data
David E. Larson et al.
BIOINFORMATICS (2012)
JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data
Andrew Roth et al.
BIOINFORMATICS (2012)
MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
Nelly Burnichon et al.
CLINICAL CANCER RESEARCH (2012)
Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors
Mengtao Xiao et al.
GENES & DEVELOPMENT (2012)
Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas
Jenny Welander et al.
HUMAN MOLECULAR GENETICS (2012)
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma
Nelly Burnichon et al.
HUMAN MOLECULAR GENETICS (2012)
Association of Age at Diagnosis and Genetic Mutations in Patients With Neuroblastoma
Nai-Kong V. Cheung et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2012)
DNA breaks and chromosome pulverization from errors in mitosis
Karen Crasta et al.
NATURE (2012)
Somatic HIF2A Gain-of-Function Mutations in Paraganglioma with Polycythemia
Zhengping Zhuang et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing
Marco Gerlinger et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
STAT3 negatively regulates thyroid tumorigenesis
Joana Pinto Couto et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Loss of ATRX, Genome Instability, and an Altered DNA Damage Response Are Hallmarks of the Alternative Lengthening of Telomeres Pathway
Courtney A. Lovejoy et al.
PLOS GENETICS (2012)
Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas
Jenny Welander et al.
ENDOCRINE-RELATED CANCER (2011)
p19ARF/p1ARF Controls Oncogenic Functions of Signal Transducer and Activator of Transcription 3 in Hepatocellular Carcinoma
Doris Schneller et al.
HEPATOLOGY (2011)
Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma
Nelly Burnichon et al.
HUMAN MOLECULAR GENETICS (2011)
Clinical Risk Factors for Malignancy and Overall Survival in Patients with Pheochromocytomas and Sympathetic Paragangliomas: Primary Tumor Size and Primary Tumor Location as Prognostic Indicators
Montserrat Ayala-Ramirez et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)
Aberrant Calcium/Calmodulin-Dependent Protein Kinase II (CaMKII) Activity Is Associated with Abnormal Dendritic Spine Morphology in the ATRX Mutant Mouse Brain
Norifumi Shioda et al.
JOURNAL OF NEUROSCIENCE (2011)
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
Inaki Comino-Mendez et al.
NATURE GENETICS (2011)
Altered Telomeres in Tumors with ATRX and DAXX Mutations
Christopher M. Heaphy et al.
SCIENCE (2011)
DAXX/ATRX, MEN1, and mTOR Pathway Genes Are Frequently Altered in Pancreatic Neuroendocrine Tumors
Yuchen Jiao et al.
SCIENCE (2011)
Mutational Inactivation of STAG2 Causes Aneuploidy in Human Cancer
David A. Solomon et al.
SCIENCE (2011)
deFuse: An Algorithm for Gene Fusion Discovery in Tumor RNA-Seq Data
Andrew McPherson et al.
PLOS COMPUTATIONAL BIOLOGY (2011)
edgeR: a Bioconductor package for differential expression analysis of digital gene expression data
Mark D. Robinson et al.
BIOINFORMATICS (2010)
Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array comparative genomic hybridization analysis
Johanna Sandgren et al.
ENDOCRINE-RELATED CANCER (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
SDHA is a tumor suppressor gene causing paraganglioma
Nelly Burnichon et al.
HUMAN MOLECULAR GENETICS (2010)
Pathogenicity of DNA Variants and Double Mutations in Multiple Endocrine Neoplasia Type 2 and Von Hippel-Lindau Syndrome
Zoran Erlic et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Research Resource: Transcriptional Profiling Reveals Different Pseudohypoxic Signatures in SDHB and VHL-Related Pheochromocytomas
Elena Lopez-Jimenez et al.
MOLECULAR ENDOCRINOLOGY (2010)
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
Yuejuan Qin et al.
NATURE GENETICS (2010)
Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination
Remi Buisson et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2010)
Allele-specific copy number analysis of tumors
Peter Van Loo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Loss of Maternal ATRX Results in Centromere Instability and Aneuploidy in the Mammalian Oocyte and Pre-Implantation Embryo
Claudia Baumann et al.
PLOS GENETICS (2010)
VarScan: variant detection in massively parallel sequencing of individual and pooled samples
Daniel C. Koboldt et al.
BIOINFORMATICS (2009)
TopHat: discovering splice junctions with RNA-Seq
Cole Trapnell et al.
BIOINFORMATICS (2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Array-comparative genomic hybridization in sporadic benign pheochromocytomas
Francien H. van Nederveen et al.
ENDOCRINE-RELATED CANCER (2009)
SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma
Huai-Xiang Hao et al.
SCIENCE (2009)
RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest
Eliska Vaclavikova et al.
ENDOCRINE (2009)
Difference in development of medullary thyroid carcinoma among carriers of RET mutations in codons 790 and 791
Karin Frank-Raue et al.
CLINICAL ENDOCRINOLOGY (2008)
The kinesin KIF1B beta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor
Susanne Schlisio et al.
GENES & DEVELOPMENT (2008)
A germline mutation of the KIF1Bβ gene on 1p36 in a family with neural and nonneural tumors
I-Tien Yeh et al.
HUMAN GENETICS (2008)
The cohesin ring concatenates sister DNA molecules
Christian H. Haering et al.
NATURE (2008)
Brief Report: PHD2 Mutation and Congenital Erythrocytosis with Paraganglioma
Charline Ladroue et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
The von Hippel-Lindau tumour suppressor protein: O2 sensing and cancer
William G. Kaelin
NATURE REVIEWS CANCER (2008)
Pheochromocytoma: an update on genetics and management
Asterios Karagiannis et al.
ENDOCRINE-RELATED CANCER (2007)
Neurofibromatosis 1
Rosalie E. Ferner
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH
C Jarbo et al.
INTERNATIONAL JOURNAL OF CANCER (2006)
A HIF1α regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas
PLM Dahia et al.
PLOS GENETICS (2005)
Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase
MA Selak et al.
CANCER CELL (2005)
Segregating sister genomes: The molecular biology of chromosome separation
K Nasmyth
SCIENCE (2002)
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
D Astuti et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Losses of chromosomes 1p and 3q are early genetic events in the development of sporadic pheochromocytomas
H Dannenberg et al.
AMERICAN JOURNAL OF PATHOLOGY (2000)
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
BE Baysal et al.
SCIENCE (2000)
分享论文
