A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2019-02-11
DOI
10.1002/humu.23721
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue
- (2019) Andrew Y. Shuen et al. JOURNAL OF CLINICAL ONCOLOGY
- Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)
- (2018) Erika K. S. M. Leenders et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- The landscape of genomic alterations across childhood cancers
- (2018) Susanne N. Gröbner et al. NATURE
- Cancer Risks for PMS2-Associated Lynch Syndrome
- (2018) Sanne W. ten Broeke et al. JOURNAL OF CLINICAL ONCOLOGY
- A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours
- (2018) Lisa Redford et al. PLoS One
- Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy
- (2018) Manon Suerink et al. JOURNAL OF MEDICAL GENETICS
- Recommendations on surveillance and management of biallelic mismatch repair deficiency (BMMRD) syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer
- (2017) Carol Durno et al. GASTROINTESTINAL ENDOSCOPY
- Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer
- (2016) Aung Ko Win et al. CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
- Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing
- (2016) Diana Mandelker et al. GENETICS IN MEDICINE
- Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency
- (2016) Eric Bouffet et al. JOURNAL OF CLINICAL ONCOLOGY
- Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents
- (2015) Sahra Bodo et al. GASTROENTEROLOGY
- PMS2 monoallelic mutation carriers: the known unknown
- (2015) McKinsey L. Goodenberger et al. GENETICS IN MEDICINE
- Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database
- (2015) Pål Møller et al. GUT
- A homozygousPMS2founder mutation with an attenuated constitutional mismatch repair deficiency phenotype
- (2015) Lili Li et al. JOURNAL OF MEDICAL GENETICS
- Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
- (2014) Katharina Wimmer et al. JOURNAL OF MEDICAL GENETICS
- Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)
- (2014) H F A Vasen et al. JOURNAL OF MEDICAL GENETICS
- Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation
- (2013) J. B. Hiatt et al. GENOME RESEARCH
- Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome
- (2013) Danielle Ingham et al. HUMAN MUTATION
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- Microsatellite instability in the peripheral blood leukocytes of HNPCC patients
- (2010) Mary I. Coolbaugh-Murphy et al. HUMAN MUTATION
- RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference
- (2007) J. Etzler et al. HUMAN MUTATION
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now