Cargando…

The InSiGHT approach to classification of mismatch repair gene variants

Detalles Bibliográficos
Autor principal:	Plazzer, JP
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2012
Materias:	Meeting Abstract
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326817/ http://dx.doi.org/10.1186/1897-4287-10-S2-A72

Ejemplares similares

InSiGHT 2022 Abstract Publishing and Best Abstract Awards
Publicado: (2022)

InSiGHT leads in the implementation of the Human Variome Project
por: Macrae, Finlay, et al.
Publicado: (2011)

Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants
por: Thompson, B, et al.
Publicado: (2012)

Mismatch repair gene mutations and cancer risks: an update
por: Win, AK, et al.
Publicado: (2012)

Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer
por: Kaushik, Varun, et al.
Publicado: (2021)

Colorectal tumour BRAF V600E and MLH1 promoter methylation status in the assessment of mismatch repair gene sequence variants of unknown clinical significance
por: Parsons, M, et al.
Publicado: (2012)

Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk
por: Valle, Laura, et al.
Publicado: (2023)

Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification
por: Thompson, Bryony A., et al.
Publicado: (2015)

Audit of routine immunohistochemistry testing for mismatch repair proteins at diagnosis of colorectal cancer under the age of 50
por: Lipton, L, et al.
Publicado: (2012)

Mutations Associated with HNPCC Predisposition — Update of ICG-HNPCC/INSiGHT Mutation Database
por: Peltomäki, Päivi, et al.
Publicado: (2004)

DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands
por: Walker, Romy, et al.
Publicado: (2023)

Iron affects localization of Ght5 in fission yeast
por: Akyüz, Sevim Nur, et al.
Publicado: (2023)

Hereditary Aspects of Colorectal Cancer: Mismatch Repair Genes Drive Lynch Syndrome
por: Hampel, Heather, et al.
Publicado: (2018)

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization
por: van der Velde, K. Joeri, et al.
Publicado: (2015)

DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers
por: Caja, Fabian, et al.
Publicado: (2020)

Development and Psychometric Evaluation of an Instrument Assessing Barriers to Growth Hormone Treatment (BAR-GHT)
por: de Zwaan, Martina, et al.
Publicado: (2020)

The A148T variant of CDKN2A gene in bladder cancer
por: Borkowska, E, et al.
Publicado: (2011)

Evaluation of large-area, low-noise, arrays of SiPMs
por: Gonzalez, Antonio, et al.
Publicado: (2015)

DNA repair in lupus
por: Xu, Jiadi, et al.
Publicado: (2014)

Expression of variant forms of the MUC1 gene correlates with the invasiveness of breast cancer cells
por: Zeillinger, R, et al.
Publicado: (2000)

Rationale for a clinical classification of lymphedema
por: Gasbarro, V, et al.
Publicado: (2010)

Classification and surgical treatment of the angled thumb
por: Baek, Goo Hyun
Publicado: (2015)

Verification of the Three-Step Model in Assessing the Pathogenicity of Mismatch Repair Gene Variants
por: Kansikas, Minttu, et al.
Publicado: (2011)

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation
por: Thompson, Bryony A., et al.
Publicado: (2020)

Lessons Learned From Gene Therapy Approaches
por: Evans, Chris H
Publicado: (2000)

siRNA-mediated targeting of the RNA-dependent RNA polymerase in the Norovirus genome
por: Mac Cann, Rachel, et al.
Publicado: (2015)

A compact PET detector module using SiPMs and MVT digitizers
por: Liu, Xiang, et al.
Publicado: (2015)

Management of failed TFCC repairs
por: Harvey, Jason
Publicado: (2015)

Wound repair capacity in type 2 diabetes elder patients: assessment by gene expression profiling (GEP) analysis
por: Cuzzola, M, et al.
Publicado: (2010)

MicroRNA-3148 modulates differential gene expression of the SLE-associated TLR7 variant
por: Deng, Y, et al.
Publicado: (2012)

Specific effects of Lef-1 splice variants on the regulation of gene expression in pancreatic cancer cells
por: Jesse, S, et al.
Publicado: (2009)

SiPM-MAROC gamma-camera prototype with monolithic NaI(Tl) scintillator
por: Philippov, Dmitry, et al.
Publicado: (2015)

EHMTI-0047. Genetic association and gene expression studies suggest that genetic variants in the SYNE1 and TNF genes are related to menstrual migraine
por: Griffiths, L, et al.
Publicado: (2014)

Using coevolution to improve protein subfamily classification
por: Simonetti, Franco, et al.
Publicado: (2015)

Fuzzy rule based unsupervised approach for gene saliency
por: Verma, Nishchal K, et al.
Publicado: (2009)

An approach to the analysis of gene expression in chronically activated T Lymphocytes
por: Cope, AP, et al.
Publicado: (2002)

Mitral valve repair in fibroelastic deficiency
por: Cuerpo, Gregorio P, et al.
Publicado: (2015)

Off pump mitral valve repair
por: Rucinskas, Kestutis, et al.
Publicado: (2015)

Association of interleukin 21 receptor gene variants with autoimune diseases in a type 1 diabetes cohort
por: Semzezem, Cintia, et al.
Publicado: (2015)

Chromosomal instability and cancer predisposition: insights from studies on the breast cancer susceptibility gene BRCA2
por: Venkitaraman, A
Publicado: (2001)

Cannot write session to /tmp/vufind_sessions/sess_k6nh1br8k7smog6rl022779u21