about
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriersMutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3A > GGenome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer riskPALB2, CHEK2 and ATM rare variants and cancer risk: data from COGSComparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testingLeiden Open Variation Database of the MUTYH gene.Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk.Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel associationAn international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers.Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriersPractical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnosticsIRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population.Dealing with pseudogenes in molecular diagnostics in the next-generation sequencing era.Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice.Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriersIdentification of six new susceptibility loci for invasive epithelial ovarian cancer.An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriersFocus on 16p13.3 Locus in Colon CancerMitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors.Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsMutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancerFunctional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variantQuestioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERTChromosomal radiosensitivity in breast cancer patients with a known or putative genetic predisposition.BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.Identification of four novel susceptibility loci for oestrogen receptor negative breast cancerIncreased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutationThe genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsHigh Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationGenetic counselling and testing for hereditary breast and ovarian cancer: the gent(le) approach.Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.
P50
Q21144874-280EAB0F-8BC7-4467-A10E-35CE2B8EACAEQ21343014-7EC9C88E-6BD3-4D02-8BA8-BB8EF610D4AFQ27008356-36ABB340-AC4B-408F-B3FE-972433A064BEQ28584533-1D4A2661-13AD-40EC-A53D-152706ED0E62Q28652730-F5F69184-CCA9-4C6C-8577-FEBB870A3370Q30484637-6A82AA82-1A24-4EBC-BC08-2BCC2C48D373Q33285918-3604A3A6-304D-4452-852C-CADDFC247A98Q33500931-B4481E4A-D293-4390-B909-4D90F99807E0Q33901361-B66D1635-B5F0-4B63-95E5-6BC41D6E64B8Q33947829-B9E09AC0-A0F9-463C-8345-E2A334DEED27Q34043324-68554608-AA31-4AAD-B8F4-EC5BCC0BFE82Q34139369-07AADCFB-B267-461F-BA8B-EE82D6AFDA5DQ34394665-9DA39233-2CC1-449F-B5C8-965135A37F4AQ34501235-55B96ADC-299D-4DEB-BB5F-4C06790D5750Q34963894-905C71C0-6C97-4AB4-8046-941B26AC48B4Q35062079-B2944481-0A9D-4A81-A0DD-365A5486DD3EQ35167817-418186E6-A7C2-4B18-AEB7-FC35B3503A43Q35242849-F1DE12D4-B027-4216-9401-5ABE972F43A2Q35518233-92C0B14E-1364-418B-AC1F-58517667DFCDQ35523236-3CA8B971-F3EF-46E2-BE65-71BD06DAAB06Q35541663-8A827D46-7FA3-464E-83FD-8783BA830F48Q35618307-4E16A4AB-61DC-4A1A-8BCD-A0EB21835802Q35722912-8DBFC753-68D2-46AC-BBB3-8B3F132B8DF3Q35809666-4593C9DB-56BD-4CF6-A2BB-38676E147417Q35852103-B94A6440-732D-41CC-A82F-292FD03147DCQ35889909-39C94000-E0F7-4C1F-AE17-BC166B2852BAQ35957703-0E8498CB-0094-4491-8459-0A9002BBD30BQ35969099-E6C13323-FE17-42E2-A4F2-86C9A1577F80Q36286597-9443AE73-CD7E-48D3-91C8-5EB779B73355Q36408445-2B9DA4EC-1CA4-4081-8919-F239D46CC041Q36590955-21D54E2A-BF7B-4A2D-B8DE-85D7585572BAQ36646481-548D948D-854C-4EFA-81C0-E1C3AF5B02A3Q36694756-85EE7817-5D0A-44C2-BB0A-CB8652D99942Q36700472-DB61A372-CB8E-4676-8B89-0D29F08F7D7BQ36859142-5047BCCB-3C82-474C-8F5D-2B9305C2953EQ36907261-1A08231A-082D-4065-BEB3-EC078CA1A3CEQ37063440-4FFE66B5-5274-42F2-8F42-F432DF092667Q37308862-0DEB6F0A-B6EE-44B2-A0ED-677CD394ACA8Q37363710-8E99C250-4138-4904-998B-6AAE38979D43Q37434133-BB673381-13B0-44C3-9B2E-F8AEE483298A
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Kathleen Claes
@ast
Kathleen Claes
@en
Kathleen Claes
@es
Kathleen Claes
@nl
type
label
Kathleen Claes
@ast
Kathleen Claes
@en
Kathleen Claes
@es
Kathleen Claes
@nl
altLabel
Claes KB
@en
prefLabel
Kathleen Claes
@ast
Kathleen Claes
@en
Kathleen Claes
@es
Kathleen Claes
@nl
P106
P31
P496
0000-0003-0841-7372