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。Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
Nadine N. Hauer et al.
GENETICS IN MEDICINE (2018)
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer
Illja J. Diets et al.
CLINICAL CANCER RESEARCH (2018)
Germline mutations and somatic inactivation of TRIM28 in Wilms tumour
Benjamin J. Halliday et al.
PLOS GENETICS (2018)
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation
Shawn Yost et al.
NATURE GENETICS (2017)
A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor
Samantha Gadd et al.
NATURE GENETICS (2017)
AGORA, a data- and biobank for birth defects and childhood cancer
Iris A. L. M. van Rooij et al.
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
FACETS: allele-specific copy number and clonal heterogeneity analysis tool for high-throughput DNA sequencing
Ronglai Shen et al.
NUCLEIC ACIDS RESEARCH (2016)
AGORA, a data- and biobank for birth defects and childhood cancer
Iris A. L. M. van Rooij et al.
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2016)
Interactomic analysis of REST/NRSF and implications of its functional links with the transcription suppressor TRIM28 during neuronal differentiation
Namgyu Lee et al.
SCIENTIFIC REPORTS (2016)
Recurrent DGCR8, DROSHA, and SIX Homeodomain Mutations in Favorable Histology Wilms Tumors
Amy L. Walz et al.
CANCER CELL (2015)
Mutations in the SIX1/2 Pathway and the DROSHA/DGCR8 miRNA Microprocessor Complex Underlie High-Risk Blastemal Type Wilms Tumors
Jenny Wegert et al.
CANCER CELL (2015)
The yin and yang of kidney development and Wilms' tumors
Peter Hohenstein et al.
GENES & DEVELOPMENT (2015)
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
Nara Sobreira et al.
HUMAN MUTATION (2015)
The WTX Tumor Suppressor Interacts with the Transcriptional Corepressor TRIM28
Woo Jae Kim et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2015)
Mutations in the transcriptional repressor REST predispose to Wilms tumor
Shazia S. Mahamdallie et al.
NATURE GENETICS (2015)
Proteomic analysis of embryonic kidney development: Heterochromatin proteins as epigenetic regulators of nephrogenesis
Gry H. Dihazi et al.
SCIENTIFIC REPORTS (2015)
MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing
Evan A. Boyle et al.
BIOINFORMATICS (2014)
A framework for the interpretation of de novo mutation in human disease
Kaitlin E. Samocha et al.
NATURE GENETICS (2014)
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour
Sandra Hanks et al.
NATURE COMMUNICATIONS (2014)
Cell cycle control of Wnt/β-catenin signalling by conductin/axin2 through CDC20
Michel V. Hadjihannas et al.
EMBO REPORTS (2012)
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
Dewi Astuti et al.
NATURE GENETICS (2012)
Trim28 Is Required for Epigenetic Stability During Mouse Oocyte to Embryo Transition
Daniel M. Messerschmidt et al.
SCIENCE (2012)
The KRAB-ZFP/KAP1 System Contributes to the Early Embryonic Establishment of Site-Specific DNA Methylation Patterns Maintained during Development
Simon Quenneville et al.
CELL REPORTS (2012)
Clinically Relevant Subsets Identified by Gene Expression Patterns Support a Revised Ontogenic Model of Wilms Tumor: A Children's Oncology Group Study
Samantha Gadd et al.
NEOPLASIA (2012)
KAP1 Protein: An Enigmatic Master Regulator of the Genome
Sushma Iyengar et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
In Embryonic Stem Cells, ZFP57/KAP1 Recognize a Methylated Hexanucleotide to Affect Chromatin and DNA Methylation of Imprinting Control Regions
Simon Quenneville et al.
MOLECULAR CELL (2011)
A de novo paradigm for mental retardation
Lisenka E. L. M. Vissers et al.
NATURE GENETICS (2010)
KRAB-type zinc-finger protein Apak specifically regulates p53-dependent apoptosis
Chunyan Tian et al.
NATURE CELL BIOLOGY (2009)
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
Sarah Reid et al.
NATURE GENETICS (2007)
KAP1 dictates p53 response induced by chemotherapeutic agents via Mdm2 interaction
Koji Okamoto et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)
MDM2 interaction with nuclear corepressor KAP1 contributes to p53 inactivation
CG Wang et al.
EMBO JOURNAL (2005)
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour
S Reid et al.
JOURNAL OF MEDICAL GENETICS (2005)
分享论文
