(Q45805261)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20373145%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

title

Analysis of mismatch repair gene mutations in Turkish HNPCC patients (English)

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30 January 2020

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2

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30 January 2020

Unal Egeli

4

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30 January 2020

Enrica Borsi

5

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30 January 2020

author name string

Berrin Tunca

1

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30 January 2020

Gulsah Cecener

3

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30 January 2020

Abdullah Zorluoglu

6

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30 January 2020

Carmela Di Gregorio

7

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30 January 2020

Tuncay Yilmazlar

8

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30 January 2020

Omer Yerci

9

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30 January 2020

Maurizio Ponz de Leon

10

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30 January 2020

publication date

1 September 2010

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30 January 2020

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30 January 2020

volume

9

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30 January 2020

issue

3

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30 January 2020

page(s)

365-376

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https://scigraph.springernature.com/pub.10.1007/s10689-010-9336-7

30 January 2020

exact match

0 references

cites work

A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10689-010-9336-7

Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography

21 January 2018

1 reference

12 December 2020

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.

1 reference

12 December 2020

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

1 reference

12 December 2020

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

1 reference

12 December 2020

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

1 reference

12 December 2020

Lynch syndrome (hereditary non-polyposis colorectal cancer): current concepts and approaches to management

1 reference

12 December 2020

Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families

1 reference

12 December 2020

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

1 reference

12 December 2020

Impact of novel PTEN mutations in Turkish patients with glioblastoma multiforme.

1 reference

12 December 2020

Pre-mRNA splicing and human disease

1 reference

12 December 2020

Silencer elements as possible inhibitors of pseudoexon splicing

1 reference

12 December 2020

A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor

1 reference

12 December 2020

Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes.

1 reference

12 December 2020

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome

1 reference

12 December 2020

Multipopulation analysis of polymorphisms in five mononucleotide repeats used to determine the microsatellite instability status of human tumors.

1 reference

12 December 2020

Clinical features and mismatch repair genes analyses of Chinese suspected hereditary non-polyposis colorectal cancer: a cost-effective screening strategy proposal

1 reference

12 December 2020

Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer

1 reference

12 December 2020

Toward a consensus in molecular diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome)

1 reference

12 December 2020

DNA methylation, epimutations and cancer predisposition

1 reference

12 December 2020

Improved splice site detection in Genie

1 reference

12 December 2020

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

1 reference

12 December 2020

RNA landscape of evolution for optimal exon and intron discrimination

1 reference

12 December 2020

Exon Identity Established through Differential Antagonism between Exonic Splicing Silencer-Bound hnRNP A1 and Enhancer-Bound SR Proteins

1 reference

12 December 2020

Germline epimutation of MLH1 in individuals with multiple cancers

1 reference

12 December 2020

Population-based molecular detection of hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

The 5' splice site: phylogenetic evolution and variable geometry of association with U1RNA.

1 reference

12 December 2020

Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information

1 reference

12 December 2020

Hereditary breast cancer syndromes in a Turkish population. Results of molecular germline analysis

1 reference

12 December 2020

MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer

1 reference

12 December 2020

Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review

1 reference

12 December 2020

Methylation of CpG in a small region of the hMLH1 promoter invariably correlates with the absence of gene expression.

1 reference

12 December 2020

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

12 December 2020

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

1 reference

12 December 2020

RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons

1 reference

12 December 2020

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

12 December 2020

1 reference

12 December 2020

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

1 reference

12 December 2020

Inheritance of a Cancer-AssociatedMLH1Germ-Line Epimutation

1 reference

12 December 2020

Computational definition of sequence motifs governing constitutive exon splicing.

1 reference

12 December 2020

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

1 reference

12 December 2020

Genetic susceptibility to non-polyposis colorectal cancer

1 reference

12 December 2020

Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)].

1 reference

12 December 2020

DNA mismatch repair and genetic instability

1 reference

12 December 2020

SNPs3D: candidate gene and SNP selection for association studies.

1 reference

12 December 2020

Automated splicing mutation analysis by information theory.

1 reference

12 December 2020

Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors.

1 reference

12 December 2020

SIFT: Predicting amino acid changes that affect protein function

1 reference

12 December 2020

Methylation pattern of different regions of theMLH1 promoter and silencing of gene expression in hereditary and sporadic colorectal cancer

1 reference

12 December 2020

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs

1 reference

12 December 2020

Pre-mRNA splicing in the new millennium

1 reference

12 December 2020

Splicing in action: assessing disease causing sequence changes

1 reference

12 December 2020

Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC

1 reference

12 December 2020

UMD (Universal Mutation Database): 2005 update

1 reference

12 December 2020

Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer

1 reference

12 December 2020

Extensive but hemiallelic methylation of the hMLH1 promoter region in early-onset sporadic colon cancers with microsatellite instability.

1 reference

12 December 2020

10.1007/S10689-010-9336-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20373145%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

30 January 2020

0 references

1 reference