Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS)
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Title
Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS)
Authors
Keywords
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Journal
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
Publisher
Springer Nature
Online
2018-01-04
DOI
10.1038/gim.2017.228
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Note: Only part of the references are listed.- Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
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- Nephroblastomatosis or Wilms tumor in a fourth patient with a somaticPIK3CAmutation
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- Cell-free DNA as a diagnostic marker for cancer: current insights
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- Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome
- (2016) Yuri Uchiyama et al. Scientific Reports
- Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR
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- Cell-Free DNA: An Upcoming Biomarker in Transplantation
- (2015) E. M. Gielis et al. AMERICAN JOURNAL OF TRANSPLANTATION
- PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
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- Clinical delineation and natural history of thePIK3CA-related overgrowth spectrum
- (2014) Kim M. Keppler-Noreuil et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
- (2012) Kyle C. Kurek et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly
- (2012) Jonathan J. Rios et al. HUMAN MOLECULAR GENETICS
- Digital PCR strategies in the development and analysis of molecular biomarkers for personalized medicine
- (2012) Elizabeth Day et al. METHODS
- Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA
- (2012) Marjorie J Lindhurst et al. NATURE GENETICS
- High Resolution Size Analysis of Fetal DNA in the Urine of Pregnant Women by Paired-End Massively Parallel Sequencing
- (2012) Nancy B. Y. Tsui et al. PLoS One
- High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number
- (2011) Benjamin J. Hindson et al. ANALYTICAL CHEMISTRY
- Glomerular filtration rate and prevalence of chronic kidney disease in Wilms’ tumour survivors
- (2011) Joanna Stefanowicz et al. PEDIATRIC NEPHROLOGY
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