Marion Gauthier Villars

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Gauthier Villars

Publications in SciGraph latest 50 shown

  • 2018-12 Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers in BREAST CANCER RESEARCH
  • 2017-12 Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer in NATURE GENETICS
  • 2017-12 Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-03 Mosaicism and prenatal diagnosis options: insights from retinoblastoma in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-12 GENESIS: a French national resource to study the missing heritability of breast cancer in BMC CANCER
  • 2016-03 Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations in ONCOGENE
  • 2016-01 Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-12 Mutation analysis of PALB2 gene in French breast cancer families in BREAST CANCER RESEARCH AND TREATMENT
  • 2013-04 Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-03 Short-term psychological impact of the BRCA1/2 test result in women with breast cancer according to their perceived probability of genetic predisposition to cancer in BRITISH JOURNAL OF CANCER
  • 2012-08 Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO) in BREAST CANCER RESEARCH
  • 2012-06 French women’s breast self-examination practices with time after undergoing BRCA1/2 genetic testing in FAMILIAL CANCER
  • 2012-04 Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers in BREAST CANCER RESEARCH
  • 2012-03 ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-12 Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study in EYE
  • 2011-10-19 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma in NATURE
  • 2011-05 Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-05 Breast and ovarian cancer screening of non-carriers from BRCA1/2 mutation-positive families: 2-year follow-up of cohorts from France and Quebec in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-03 Clinical utility gene card for: Retinoblastoma in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-12 Contribution of CDKN2A/P16INK4A, P14ARF, CDK4 and BRCA1/2 germline mutations in individuals with suspected genetic predisposition to uveal melanoma in FAMILIAL CANCER
  • 2010-12 Time to prophylactic surgery in BRCA1/2 carriers depends on psychological and other characteristics in GENETICS IN MEDICINE
  • 2010-10-05 Screening for Genomic Rearrangements by Multiplex PCR/Liquid Chromatography in PCR MUTATION DETECTION PROTOCOLS
  • 2010 Rétinoblastome in TUMEURS MALIGNES RARES
  • 2009-11 Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007-04 A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-12 Retinoblastoma in ORPHANET JOURNAL OF RARE DISEASES
  • 2006-07 Le rétinoblastome in ONCOLOGIE
  • 2006 Diagnostic des patientes à risque de cancer du sein in CANCER DU SEIN
  • 2006 Prédispositions génétiques aux cancers de l’ovaire in LES CANCERS OVARIENS
  • 2002-10 Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families in ONCOGENE
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