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Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 135, doi. 10.1007/s00439-002-0869-1
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- Article
Discovery of protein acetylation patterns by deconvolution of peptide isomer mass spectra.
- Published in:
- Scientific Reports, 2015, p. 8648, doi. 10.1038/ncomms9648
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- Publication type:
- Article
Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) beyond SMARCA4 Mutations: A Comprehensive Genomic Analysis.
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- Cells (2073-4409), 2020, v. 9, n. 6, p. 1496, doi. 10.3390/cells9061496
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- Publication type:
- Article
Ethical Issues in Presymptomatic Genetic Testing for Minors: A dilemma in Li-Fraumeni Syndrome.
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- Journal of Genetic Counseling, 2013, v. 22, n. 3, p. 315, doi. 10.1007/s10897-012-9556-0
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- Publication type:
- Article
Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome.
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- Radiation Oncology, 2010, v. 5, p. 104, doi. 10.1186/1748-717X-5-104
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- Publication type:
- Article
Malignant Adenomyoepithelioma of the Breast: An Unexpected Malignancy in a Lynch Syndrome Patient.
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- International Journal of Surgical Pathology, 2023, v. 31, n. 5, p. 572, doi. 10.1177/10668969221105623
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- Publication type:
- Article
Global proteogenomic analysis of human MHC class I-associated peptides derived from non-canonical reading frames.
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- Nature Communications, 2016, v. 7, n. 1, p. 10238, doi. 10.1038/ncomms10238
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- Article
Discovery of protein acetylation patterns by deconvolution of peptide isomer mass spectra.
- Published in:
- Nature Communications, 2015, v. 6, n. 10, p. 8648, doi. 10.1038/ncomms9648
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- Publication type:
- Article
Large-scale analysis of lysine SUMOylation by SUMO remnant immunoaffinity profiling.
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- Nature Communications, 2014, v. 5, n. 1, p. 1, doi. 10.1038/ncomms6409
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- Publication type:
- Article
Large-scale analysis of lysine SUMOylation by SUMO remnant immunoaffinity profiling.
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- Nature Communications, 2014, v. 5, n. 11, p. 5409, doi. 10.1038/ncomms6409
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- Publication type:
- Article
Impact of genomic polymorphisms on the repertoire of human MHC class I-associated peptides.
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- Nature Communications, 2014, v. 5, n. 4, p. 3600, doi. 10.1038/ncomms4600
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- Publication type:
- Article
Resveratrol stimulates the metabolic reprogramming of human CD4<sup>+</sup> T cells to enhance effector function.
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- Science Signaling, 2017, v. 10, n. 501, p. 1, doi. 10.1126/scisignal.aal3024
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- Publication type:
- Article
Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome.
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- JAMA: Journal of the American Medical Association, 2011, v. 305, n. 22, p. 2304, doi. 10.1001/jama.2011.743
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- Publication type:
- Article
Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1369, doi. 10.1038/ejhg.2013.68
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- Publication type:
- Article
Practical Application of Electrochemical Nitrate Sensor under Laboratory and Forest Nursery Conditions.
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- Sensors (14248220), 2016, v. 16, n. 8, p. 1190, doi. 10.3390/s16081190
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- Publication type:
- Article
A Comparative Analysis of the Center of Gravity and Center of Pressure Trajectory Path Lengths in Standing Posture: An Estimation of Active Stiffness.
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- Journal of Applied Biomechanics, 2000, v. 16, n. 3, p. 234, doi. 10.1123/jab.16.3.234
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- Article
Reply to Talseth-Palmer et al.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 488, doi. 10.1038/ejhg.2011.235
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- Publication type:
- Article
Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers.
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- European Journal of Human Genetics, 2011, v. 19, n. 8, p. 887, doi. 10.1038/ejhg.2011.44
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- Publication type:
- Article
Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations.
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- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 500, doi. 10.1038/ejhg.2010.241
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- Publication type:
- Article
Outcomes of patients with HER2-negative metastatic breast cancer after platinum- and non-platinum-based first-line chemotherapy among patients with and without pathogenic germline BRCA1/2 mutations.
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- 2022
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- Publication type:
- journal article
A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers.
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- 2021
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- Publication type:
- journal article
Mutation analysis of PALB2 gene in French breast cancer families.
- Published in:
- Breast Cancer Research & Treatment, 2015, v. 154, n. 3, p. 463, doi. 10.1007/s10549-015-3625-7
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- Publication type:
- Article
TP53-associated early breast cancer: new observations from a large cohort.
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- JNCI: Journal of the National Cancer Institute, 2024, v. 116, n. 8, p. 1246, doi. 10.1093/jnci/djae074
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- Publication type:
- Article
Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.
- Published in:
- 2020
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- Publication type:
- journal article
Impact of Chromoscopy on Adenoma Detection in Patients With Lynch Syndrome: A Prospective, Multicenter, Blinded, Tandem Colonoscopy Study.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2015, v. 110, n. 2, p. 288, doi. 10.1038/ajg.2014.423
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- Article
Usefulness of Prophylactic Gastrectomy in a Novel Large Hereditary Diffuse Gastric Cancer (HDGC) Family.
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- 2008
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- Publication type:
- Letter
La gestion des comportements d'élèves en salle de classe en fonction du type de programme de renforcement social utilisé par une enseignante.
- Published in:
- Acta Comportamentalia, 2017, v. 25, n. 4, p. 529
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- Publication type:
- Article
La sensibilité sociale : Une recension critique.
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- Acta Comportamentalia, 2014, p. 334
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- Publication type:
- Article
La loi généralisée de appariement: Une simulation de Monte-Carlo.
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- Acta Comportamentalia, 2014, v. 22, n. 2, p. 169
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- Publication type:
- Article
Une analyse picoéconomique de l'attention à la tâche d'écoliers et de l'attention de l'enseignant.
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- Acta Comportamentalia, 2014, v. 22, n. 1, p. 73
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- Publication type:
- Article
Hereditary breast and ovarian cancer: successful systematic implementation of a group approach to genetic counselling.
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- Familial Cancer, 2017, v. 16, n. 1, p. 51, doi. 10.1007/s10689-016-9929-x
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- Publication type:
- Article
Factors Associated with Altered Long-Term Well-Being After Prophylactic Salpingo-Oophorectomy Among Women at Increased Hereditary Risk for Breast and Ovarian Cancer.
- Published in:
- Oncologist, 2011, v. 16, n. 9, p. 1250, doi. 10.1634/theoncologist.2010-0336
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- Publication type:
- Article
Low risk of invasive lobular carcinoma of the breast in carriers of BRCA1 (hereditary breast and ovarian cancer) and TP53 (Li‐Fraumeni syndrome) germline mutations.
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- Breast Journal, 2019, v. 25, n. 1, p. 16, doi. 10.1111/tbj.13154
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- Publication type:
- Article
Efficacy of anthracycline/taxane‐based neo‐adjuvant chemotherapy on triple‐negative breast cancer in BRCA1/BRCA2 mutation carriers.
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- Breast Journal, 2018, v. 24, n. 3, p. 269, doi. 10.1111/tbj.12887
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- Publication type:
- Article
Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation.
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- 2021
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- Publication type:
- journal article
Age-Dependent Cancer Risk Is Not Different in between MSH2 and MLH1 Mutation Carriers.
- Published in:
- Journal of Cancer Epidemiology, 2009, p. 1, doi. 10.1155/2009/791754
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- Publication type:
- Article
Évaluer la compréhension en lecture d'un récit et d'un texte informatif auprès d'élèves de 8 ans.
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- Canadian Journal of Applied Linguistics / Revue Canadiennne de Linguistique Appliquée, 2023, v. 26, n. 1, p. 28, doi. 10.37213/cjal.2023.32826
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- Publication type:
- Article
Glacial history reflected by geochemically constrained stratigraphic sections in the Chaudière River drainage basin of the Canadian Appalachians.
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- Quaternary Research, 2019, v. 91, n. 1, p. 234, doi. 10.1017/qua.2018.19
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- Publication type:
- Article
Description and interactions of informative text structure knowledge and skills of French-speaking Grade 6 students.
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- Reading & Writing, 2018, v. 31, n. 9, p. 2147, doi. 10.1007/s11145-018-9875-0
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- Publication type:
- Article
Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants.
- Published in:
- NPJ Breast Cancer, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41523-021-00224-w
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- Publication type:
- Article
La polypose associée à MUTYH : synthèse des données disponibles en 2020 et actualisation des recommandations françaises établies en 2012 sous l'égide de l'Institut National du Cancer (INCa).
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- Hépato-Gastro & Oncologie Digestive, 2020, v. 27, n. 4, p. 396, doi. 10.1684/hpg.2020.1944
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- Publication type:
- Article
Upper Gastrointestinal Lesions during Endoscopy Surveillance in Patients with Lynch Syndrome: A Multicentre Cohort Study.
- Published in:
- Cancers, 2021, v. 13, n. 7, p. 1657, doi. 10.3390/cancers13071657
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- Publication type:
- Article
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).
- Published in:
- 2012
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- Publication type:
- journal article
Interpréter l'interaction de variables latentes : une exemplification méthodologique de la méthode graphique Johnson-Neyman.
- Published in:
- Revue des Sciences de l'Education, 2020, v. 46, n. 2, p. 174, doi. 10.7202/1073723ar
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- Publication type:
- Article
The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma.
- Published in:
- 2008
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- Publication type:
- journal article
GENESIS: a French national resource to study the missing heritability of breast cancer.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Model projection relative to submetamodeling dimensions: A form of submodel circumscribing.
- Published in:
- Software & Systems Modeling, 2024, v. 23, n. 1, p. 223, doi. 10.1007/s10270-023-01116-2
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- Article
On submodels and submetamodels with their relation.
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- Software & Systems Modeling, 2018, v. 17, n. 4, p. 1105, doi. 10.1007/s10270-016-0540-2
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- Article
Aspectual templates in UML.
- Published in:
- Software & Systems Modeling, 2017, v. 16, n. 2, p. 469, doi. 10.1007/s10270-015-0463-3
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- Publication type:
- Article