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。A germline 1;3 translocation disrupting the VHL gene: a novel genetic cause for von Hippel-Lindau
Christopher J. Ricketts et al.
JOURNAL OF MEDICAL GENETICS (2022)
Tumor and germline next generation sequencing in high grade serous cancer: experience from a large population-based testing program
Melanie Care et al.
MOLECULAR ONCOLOGY (2021)
What Have We Learned from Molecular Biology of Paragangliomas and Pheochromocytomas?
Thomas G. Papathomas et al.
ENDOCRINE PATHOLOGY (2021)
Significance of Alpha-inhibin Expression in Pheochromocytomas and Paragangliomas
Ozgur Mete et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2021)
Challenges in Paragangliomas and Pheochromocytomas: from Histology to Molecular Immunohistochemistry
C. Christofer Juhlin
ENDOCRINE PATHOLOGY (2021)
Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods
Lucie Coppin et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2019)
Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission
Krinio Giannikou et al.
GENETICS IN MEDICINE (2019)
Genotype phenotype correlation in Asian Indian von Hippel-Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma
Nilesh Lomte et al.
FAMILIAL CANCER (2018)
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
Marion Lenglet et al.
BLOOD (2018)
Prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in Denmark
Marie Louise Molgaard Binderup et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Unrevealed mosaicism in the next-generation sequencing era
Marzena Gajecka
MOLECULAR GENETICS AND GENOMICS (2016)
Mosaic Neurofibromatosis Type 1: A Systematic Review
Maria Teresa Garcia-Romero et al.
PEDIATRIC DERMATOLOGY (2016)
Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma
Reshma Pandit et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2016)
CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing
Eric Talevich et al.
PLOS COMPUTATIONAL BIOLOGY (2016)
Current practices and guidelines for clinical next-generation sequencing oncology testing
Samuel P. Strom et al.
Cancer Biology & Medicine (2016)
PureCN: copy number calling and SNV classification using targeted short read sequencing
Markus Riester et al.
SOURCE CODE FOR BIOLOGY AND MEDICINE (2016)
VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype
Lucie Coppin et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma
Lucy Gossage et al.
HUMAN MOLECULAR GENETICS (2014)
Genotype-phenotype Correlations, and Retinal Function and Structure in von Hippel-Lindau Disease
Elisabeth Wittstrom et al.
OPHTHALMIC GENETICS (2014)
Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
Helga Thorvaldsdottir et al.
BRIEFINGS IN BIOINFORMATICS (2013)
Mosaicism in von Hippel-Lindau disease with severe renal manifestations
P. Wu et al.
CLINICAL GENETICS (2013)
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
Kristian Cibulskis et al.
NATURE BIOTECHNOLOGY (2013)
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
Daniel C. Koboldt et al.
GENOME RESEARCH (2012)
von Hippel-Lindau disease: A clinical and scientific review
Eamonn R. Maher et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Improved Detection of Germline Mutations in Korean VHL Patients by Multiple Ligation-dependent Probe Amplification Analysis
Hyun-Jung Cho et al.
JOURNAL OF KOREAN MEDICAL SCIENCE (2009)
Mosaicism in von Hippel-Lindau disease: an event important to recognize
Libero Santarpia et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2007)
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification
F. J. Hes et al.
CLINICAL GENETICS (2007)
Von Hippel-Lindau gene alterations in sporadic benign and malignant pheochromocytomas
H Dannenberg et al.
INTERNATIONAL JOURNAL OF CANCER (2003)
Mosaicism in von Hippel-Lindau disease: Lessons from kindreds with germline mutations identified in offspring with mosaic parents
MT Sgambati et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
分享论文
