0000000000940589

AUTHOR

Marie Navratilova

showing 14 related works from this author

Additional file 5: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of invasive BRCA1 female and male breast tumours and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

endocrine system diseasesskin and connective tissue diseases3. Good health
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Variation in genomic landscape of clear cell renal cell carcinoma across Europe

2014

The incidence of renal cell carcinoma (RCC) is increasing worldwide, and its prevalence is particularly high in some parts of Central Europe. Here we undertake whole-genome and transcriptome sequencing of clear cell RCC (ccRCC), the most common form of the disease, in patients from four different European countries with contrasting disease incidence to explore the underlying genomic architecture of RCC. Our findings support previous reports on frequent aberrations in the epigenetic machinery and PI3K/mTOR signalling, and uncover novel pathways and genes affected by recurrent mutations and abnormal transcriptome patterns including focal adhesion, components of extracellular matrix (ECM) and …

AdultMaleOncogene Proteins FusionRNA SplicingGeneral Physics and AstronomyBiologymedicine.disease_causeGeneral Biochemistry Genetics and Molecular BiologyCohort StudiesTranscriptomePhosphatidylinositol 3-KinasesMutation RatemedicineHumansEpigeneticsCarcinoma Renal CellAgedAged 80 and overGeneticsFocal AdhesionsMutationMultidisciplinaryGenome HumanGene Expression ProfilingGenetic VariationGenomicsSequence Analysis DNAGeneral ChemistryMiddle Agedmedicine.diseaseHuman genetics3. Good healthEuropeGene Expression Regulation NeoplasticGene expression profilingClear cell renal cell carcinomaMutationFemaleCarcinogenesisClear cellSignal TransductionNature Communications
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Additional file 1: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Male BRCA1 and BRCA2 mutation carriers by study group/country. (DOCX 21 kb)

endocrine system diseasesskin and connective tissue diseasesneoplasmsfemale genital diseases and pregnancy complications3. Good health
researchProduct

Additional file 4: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of BRCA1 and BRCA2 MBCs and ORs in predicting BRCA2 mutation carrier status. (DOCX 20 kb)

endocrine system diseasespolycyclic compoundsskin and connective tissue diseasesneoplasmsfemale genital diseases and pregnancy complications3. Good health
researchProduct

Additional file 3: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Methods and thresholds used to define the final marker variables for study groups providing MBC cases. (DOCX 20 kb)

3. Good health
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Additional file 2: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

List of local ethics committees that granted approval for the access and use of the data in present study. (DOCX 23 kb)

3. Good health
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Additional file 6: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of invasive MBCs in the general population from SEER and BRCA1 MBCs and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

polycyclic compoundsbacteriabiochemical phenomena metabolism and nutritionbacterial infections and mycosesskin and connective tissue diseases3. Good health
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Additional file 3: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Methods and thresholds used to define the final marker variables for study groups providing MBC cases. (DOCX 20 kb)

3. Good health
researchProduct

Additional file 2: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

List of local ethics committees that granted approval for the access and use of the data in present study. (DOCX 23 kb)

3. Good health
researchProduct

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

2020

AbstractEating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa (BN) and problem alcohol use (genetic correlation [rg], twin-based=0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge-eating, AN without binge-eating, and a BN factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], …

Netherlands Twin Register (NTR)Alcoholism/geneticsSchizophrenia/genetics[SDV]Life Sciences [q-bio][SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental healthMedizinMedicine (miscellaneous)Genome-wide association studyAlcohol use disorderAnorexia nervosaLinkage Disequilibriumddc:616.89[SCCO]Cognitive science0302 clinical medicineRisk FactorsTobacco Use Disorder/geneticsSubstance-Related Disorders/genetics0303 health sciences[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologyFactors de risc en les malaltiesBulimia nervosaFeeding and Eating Disorders/geneticseating disorders; genetic correlation; substance useTobacco Use Disordergenetic correlation3. Good healthFenotip[SDV] Life Sciences [q-bio]Psychiatry and Mental healthAlcoholismEating disordersPhenotypeSchizophreniaDrinking of alcoholic beverageseating disorderConsum d'alcoholMajor depressive disorder/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingmedicine.symptomDepressive Disorder Major/geneticseating disorders genetic correlation substance useClinical psychologySubstance abuseRisk factors in diseasesSubstance-Related Disorderssubstance useeating disordersPolymorphism Single NucleotideArticleFeeding and Eating Disorders03 medical and health sciencesSDG 3 - Good Health and Well-beingmental disorders/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_GeneticsmedicineHumansTrastorns de la conducta alimentària030304 developmental biologyGenetic associationPharmacologyeating disorders ; genetic correlation ; substance useDepressive Disorder MajorBinge eatingbusiness.industry[SCCO.NEUR]Cognitive science/Neuroscience[SCCO.NEUR] Cognitive science/Neurosciencesubstance use.[SCCO] Cognitive sciencemedicine.diseaseComorbidityTwin study030227 psychiatryAbús de substàncies[SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental healthSchizophreniabusinessGenètica030217 neurology & neurosurgery[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyGenome-Wide Association Study
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Additional file 1: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Male BRCA1 and BRCA2 mutation carriers by study group/country. (DOCX 21 kb)

endocrine system diseasesskin and connective tissue diseasesneoplasmsfemale genital diseases and pregnancy complications3. Good health
researchProduct

Additional file 4: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of BRCA1 and BRCA2 MBCs and ORs in predicting BRCA2 mutation carrier status. (DOCX 20 kb)

endocrine system diseasespolycyclic compoundsskin and connective tissue diseasesneoplasmsfemale genital diseases and pregnancy complications3. Good health
researchProduct

Additional file 5: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of invasive BRCA1 female and male breast tumours and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

endocrine system diseasesskin and connective tissue diseases3. Good health
researchProduct

Additional file 6: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of invasive MBCs in the general population from SEER and BRCA1 MBCs and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

polycyclic compoundsbacteriabiochemical phenomena metabolism and nutritionbacterial infections and mycosesskin and connective tissue diseases3. Good health
researchProduct