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A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing

European journal of human genetics : EJHG, 2024-05, Vol.32 (5), p.513-520

2024

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Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing

European journal of human genetics : EJHG, 2024-05, Vol.32 (5), p.601-602

2024

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Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers

BMC cancer, 2017-06, Vol.17 (1), p.438-438, Article 438

2017

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EGFR Gene Alterations in a Norwegian Cohort of Lung Cancer Patients Selected for Surgery

Journal of thoracic oncology, 2011-05, Vol.6 (5), p.947-950

2011

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Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions

Genes, 2023-01, Vol.14 (2), p.262

2023

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BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway

Hereditary cancer in clinical practice, 2018-01, Vol.16 (1), p.3-3, Article 3

2018

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Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance

Human genomics, 2018-11, Vol.12 (1), p.51-51, Article 51

2018

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Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations

Hereditary cancer in clinical practice, 2019-05, Vol.17 (1), p.14-14, Article 14

2019

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Mutasjonstesting ved ikke-småcellet lungekreft

Tidsskrift for den Norske Lægeforening, 2012, Vol.132 (8), p.952-955

2012

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Functional Analyses of Rare Germline Missense IBRCA1/I Variants Located within and outside Protein Domains with Known Functions

Genes, 2023-01, Vol.14 (2)

2023

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The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?

European journal of human genetics : EJHG, 2020-08, Vol.28 (8), p.1078-1086

2020

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Requirement for Prolonged Action in the Cytosol for Optimal Protein Synthesis Inhibition by Diphtheria Toxin

The Journal of biological chemistry, 2000-02, Vol.275 (6), p.4363-4368

2000

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BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories

Familial cancer, 2022-10, Vol.21 (4), p.389-398

2022

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Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers

Journal of medical genetics, 2010-09, Vol.47 (9), p.579-585

2010

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Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers

BMC cancer, 2017

2017

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BRCA mutation carrier detection. A model-based cost-effectiveness analysis comparing the traditional family history approach and the testing of all patients with breast cancer

ESMO open, 2018, Vol.3 (3), p.e000328-e000328, Article e000328

2018

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Abstract P6-02-15: Don’t get lost in translation: Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) recommendations for reporting germline cancer susceptibility gene variants in 19 languages – breast cancer as a model

Cancer research (Chicago, Ill.), 2023-03, Vol.83 (5_Supplement), p.P6-P6-02-15

2023

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Do mitochondrial mutations cause recurrent miscarriage?

Molecular human reproduction, 2009-05, Vol.15 (5), p.295-300

2009

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APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations

Journal of cancer research and clinical oncology, 2009-10, Vol.135 (10), p.1463-1470

2009

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APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations

Journal of cancer research and clinical oncology, 2009-10, Vol.135 (10), p.1471-1471

2009

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Chromosomal 20q gain in the DNA diploid component of aneuploid colorectal carcinomas

International journal of cancer, 2007-06, Vol.120 (12), p.2734-2738

2007

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Mutation testing for non-small-cell lung cancer

Tidsskrift for den Norske Lægeforening, 2012-04, Vol.132 (8), p.952-955

2012

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Membrane translocation of diphtheria toxin A-fragment: role of carboxy-terminal region

Biochemistry (Easton), 1993-01, Vol.32 (1), p.83-90

1993

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Interactions of diphtheria toxin B-fragment with cells. Role of amino- and carboxyl-terminal regions

The Journal of biological chemistry, 1992-05, Vol.267 (13), p.8957-8962

1992

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A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing

Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing

Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers

EGFR Gene Alterations in a Norwegian Cohort of Lung Cancer Patients Selected for Surgery

Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions

BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway

Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance

Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations

Mutasjonstesting ved ikke-småcellet lungekreft

Functional Analyses of Rare Germline Missense IBRCA1/I Variants Located within and outside Protein Domains with Known Functions

The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?

Requirement for Prolonged Action in the Cytosol for Optimal Protein Synthesis Inhibition by Diphtheria Toxin

BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers

Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers

BRCA mutation carrier detection. A model-based cost-effectiveness analysis comparing the traditional family history approach and the testing of all patients with breast cancer

Abstract P6-02-15: Don’t get lost in translation: Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) recommendations for reporting germline cancer susceptibility gene variants in 19 languages – breast cancer as a model

Do mitochondrial mutations cause recurrent miscarriage?

APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations

APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations

Chromosomal 20q gain in the DNA diploid component of aneuploid colorectal carcinomas

Mutation testing for non-small-cell lung cancer

Membrane translocation of diphtheria toxin A-fragment: role of carboxy-terminal region

Interactions of diphtheria toxin B-fragment with cells. Role of amino- and carboxyl-terminal regions

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