VIAF

Virtual International Authority File

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Leader 00000nz a2200037n 45 0
001 WKP|Q56875617 (VIAF cluster) (Authority/Source Record)
003 WKP
005 20241221010844.0
008 241221nneanz||abbn n and d
035 ‎‡a (WKP)Q56875617‏
024 ‎‡a 0000-0002-7197-5249‏ ‎‡2 orcid‏
024 ‎‡a 7005589747‏ ‎‡2 scopus‏
035 ‎‡a (OCoLC)Q56875617‏
100 0 ‎‡a Mar Infante‏ ‎‡c researcher‏ ‎‡9 en‏
400 0 ‎‡a Mar Infante‏ ‎‡c onderzoeker‏ ‎‡9 nl‏
670 ‎‡a Author's A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.‏
670 ‎‡a Author's A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.‏
670 ‎‡a Author's A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer‏
670 ‎‡a Author's About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants‏
670 ‎‡a Author's Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases‏
670 ‎‡a Author's BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin‏
670 ‎‡a Author's BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.‏
670 ‎‡a Author's Characterization of New Founder Alu-Mediated Rearrangements in MSH2 Gene Associated with a Lynch Syndrome Phenotype‏
670 ‎‡a Author's Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study‏
670 ‎‡a Author's Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes‏
670 ‎‡a Author's Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer‏
670 ‎‡a Author's DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers‏
670 ‎‡a Author's Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2.‏
670 ‎‡a Author's GALNT12 is not a major contributor of familial colorectal cancer type X.‏
670 ‎‡a Author's Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants‏
670 ‎‡a Author's Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome.‏
670 ‎‡a Author's Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer‏
670 ‎‡a Author's Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes.‏
670 ‎‡a Author's High-throughput mutation detection method to scan BRCA1 and BRCA2 based on heteroduplex analysis by capillary array electrophoresis‏
670 ‎‡a Author's Incidence of -93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer.‏
670 ‎‡a Author's Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: identification of four novel truncating mutations‏
670 ‎‡a Author's Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis.‏
670 ‎‡a Author's The highly prevalent BRCA2 mutation c.2808_2811del‏
670 ‎‡a Author's The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.‏
670 ‎‡a Author's Two founder BRCA2 mutations predispose to breast cancer in young women‏
670 ‎‡a Author's Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer‏
909 ‎‡a (scopus) 7005589747‏ ‎‡9 1‏
909 ‎‡a (orcid) 0000000271975249‏ ‎‡9 1‏
912 ‎‡a dnaglycosylasesinvolvedinbaseexcisionrepairmaybeassociatedwithcancerriskinbrca1andbrca2mutationcarriers‏ ‎‡A DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers‏ ‎‡9 1‏
919 ‎‡a unravelingthemoleculareffectofararemissensemutationinbrip1associatedwithinheritedbreastcancer‏ ‎‡A Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer‏ ‎‡9 1‏
919 ‎‡a 2founderbrca2mutationspredisposetobreastcancerinyoungwomen‏ ‎‡A Two founder BRCA2 mutations predispose to breast cancer in young women‏ ‎‡9 1‏
919 ‎‡a highlyprevalentbrca2mutation10028082811del3036delacaaislocatedinamutationalhotspotandhasmultipleorigins‏ ‎‡A The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.‏ ‎‡9 1‏
919 ‎‡a highlyprevalentbrca2mutation10028082811del‏ ‎‡A The highly prevalent BRCA2 mutation c.2808_2811del‏ ‎‡9 1‏
919 ‎‡a rapidmutationdetectionincomplexgenesbyheteroduplexanalysiswithcapillaryarrayelectrophoresis‏ ‎‡A Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis.‏ ‎‡9 1‏
919 ‎‡a mutationalanalysisofbrca2inspanishbreastcancerpatientsfromcastillaleonidentificationof4noveltruncatingmutations‏ ‎‡A Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: identification of four novel truncating mutations‏ ‎‡9 1‏
919 ‎‡a incidenceof93mlh1promoterpolymorphisminfamilialandsporadiccolorectalcancer‏ ‎‡A Incidence of -93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer.‏ ‎‡9 1‏
919 ‎‡a highthroughputmutationdetectionmethodtoscanbrca1andbrca2basedonheteroduplexanalysisbycapillaryarrayelectrophoresis‏ ‎‡A High-throughput mutation detection method to scan BRCA1 and BRCA2 based on heteroduplex analysis by capillary array electrophoresis‏ ‎‡9 1‏
919 ‎‡a heteroduplexanalysisbycapillaryarrayelectrophoresisforrapidmutationdetectioninlargemultiexongenes‏ ‎‡A Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes.‏ ‎‡9 1‏
919 ‎‡a germlinegeneticfindingswhichmayimpacttherapeuticdecisionsinfamilieswithapresumedpredispositionforhereditarybreastandovariancancer‏ ‎‡A Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer‏ ‎‡9 1‏
919 ‎‡a genotypephenotypecorrelationinmmrmutationpositivefamilieswithlynchsyndrome‏ ‎‡A Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome.‏ ‎‡9 1‏
919 ‎‡a geneticdissectionofthebrca2promoterandtranscriptionalimpactofdnavariants‏ ‎‡A Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants‏ ‎‡9 1‏
919 ‎‡a galnt12isnotamajorcontributoroffamilialcolorectalcancertype10‏ ‎‡A GALNT12 is not a major contributor of familial colorectal cancer type X.‏ ‎‡9 1‏
919 ‎‡a frequencyofrearrangementsinlynchsyndromecasesassociatedwithmsh2characterizationofanewdeletioninvolvingbothepcamandthe5partofmsh2‏ ‎‡A Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2.‏ ‎‡9 1‏
919 ‎‡a detectionofalargerearrangementinpalb2inspanishbreastcancerfamilieswithmalebreastcancer‏ ‎‡A Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer‏ ‎‡9 1‏
919 ‎‡a comprehensivesplicingfunctionalanalysisofdnavariantsofthebrca2genebyhybridminigenes‏ ‎‡A Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes‏ ‎‡9 1‏
919 ‎‡a characterizationofspliceogenicvariantslocatedinregionslinkedtohighlevelsofalternativesplicingbrca21007976+5gtasacasestudy‏ ‎‡A Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study‏ ‎‡9 1‏
919 ‎‡a characterizationofnewfounderalumediatedrearrangementsinmsh2geneassociatedwithalynchsyndromephenotype‏ ‎‡A Characterization of New Founder Alu-Mediated Rearrangements in MSH2 Gene Associated with a Lynch Syndrome Phenotype‏ ‎‡9 1‏
919 ‎‡a brca1andbrca2mutationsinmaleswithfamilialbreastandovariancancersyndromeresultsofaspanishmulticenterstudy‏ ‎‡A BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.‏ ‎‡9 1‏
919 ‎‡a brca152721gaandbrca25374deltatgarefoundermutationsofhighrelevanceforgeneticcounsellinginbreastovariancancerfamiliesofspanishorigin‏ ‎‡A BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin‏ ‎‡9 1‏
919 ‎‡a analysisofpalb2geneinbrca1brca2negativespanishhereditarybreastovariancancerfamilieswithpancreaticcancercases‏ ‎‡A Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases‏ ‎‡9 1‏
919 ‎‡a about1ofthebreastandovarianspanishfamiliestestingnegativeforbrca1andbrca2arecarriersofrad51dpathogenicvariants‏ ‎‡A About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants‏ ‎‡9 1‏
919 ‎‡a palb2truncatingmutationimplicationincancerpreventionandtherapyofhereditarybreastandovariancancer‏ ‎‡A A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer‏ ‎‡9 1‏
919 ‎‡a newstrategytoscreenmmrgenesinlynchsyndromehacaemlpaandrtpcr‏ ‎‡A A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.‏ ‎‡9 1‏
919 ‎‡a highproportionofdnavariantsofbrca1andbrca2isassociatedwithaberrantsplicinginbreastovariancancerpatients‏ ‎‡A A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.‏ ‎‡9 1‏
996 ‎‡2 BIBSYS|90919116‏
996 ‎‡2 SUDOC|174650264‏
996 ‎‡2 LC|nr 96033290‏
996 ‎‡2 ISNI|0000000037891290‏
996 ‎‡2 J9U|987007369328605171‏
996 ‎‡2 LC|n 2001035140‏
996 ‎‡2 BNF|13599811‏
997 ‎‡a 0 0 lived 0 0‏ ‎‡9 1‏