Direct-to-consumer genetic testing services: what are the medical benefits?

بواسطة Frebourg, Thierry
منشور في 2012

A Connected Network of Interacting Proteins Is Involved in Human-Tau Toxicity in Drosophila

بواسطة Feuillette, Sébastien, Charbonnier, Camille, Frebourg, Thierry, Campion, Dominique, Lecourtois, Magalie
الحاوية / القاعدة Front Neurosci (2020)

Lung Adenocarcinoma as Part of the Li-Fraumeni Syndrome Spectrum: Preliminary Data of the LIFSCREEN Randomized Clinical Trial

بواسطة Caron, Olivier, Frebourg, Thierry, Benusiglio, Patrick R., Foulon, Stéphanie, Brugières, Laurence
الحاوية / القاعدة JAMA Oncol (2017)

Reply to Kratz et al.

بواسطة Frebourg, Thierry, Lagercrantz, Svetlana Bajalica, Oliveira, Carla, Magenheim, Rita, Evans, D. Gareth
الحاوية / القاعدة Eur J Hum Genet (2020)

Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

بواسطة Frebourg, Thierry, Bajalica Lagercrantz, Svetlana, Oliveira, Carla, Magenheim, Rita, Evans, D. Gareth
الحاوية / القاعدة Eur J Hum Genet (2020)

Genetic Association Studies of Suicidal Behavior: A Review of the Past 10 Years, Progress, Limitations, and Future Directions

بواسطة Mirkovic, Bojan, Laurent, Claudine, Podlipski, Marc-Antoine, Frebourg, Thierry, Cohen, David, Gerardin, Priscille
الحاوية / القاعدة Front Psychiatry (2016)

Germline TP53 Testing in Breast Cancers: Why, When and How?

بواسطة Evans, D. Gareth, Woodward, Emma R., Bajalica-Lagercrantz, Svetlana, Oliveira, Carla, Frebourg, Thierry
الحاوية / القاعدة Cancers (Basel) (2020)

Identification of TCERG1 as a new genetic modulator of TDP-43 production in Drosophila

بواسطة Pons, Marine, Prieto, Silvia, Miguel, Laetitia, Frebourg, Thierry, Campion, Dominique, Suñé, Carles, Lecourtois, Magalie
الحاوية / القاعدة Acta Neuropathol Commun (2018)

Early-Onset Brain Tumor and Lymphoma in MSH2-Deficient Children

بواسطة Bougeard, Gaëlle, Charbonnier, Françoise, Moerman, Alexandre, Martin, Cosette, Ruchoux, Marie M., Drouot, Nathalie, Frébourg, Thierry
منشور في 2003

Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage

بواسطة Zerdoumi, Yasmine, Lanos, Raphaël, Raad, Sabine, Flaman, Jean-Michel, Bougeard, Gaëlle, Frebourg, Thierry, Tournier, Isabelle
الحاوية / القاعدة Hum Mol Genet (2017)

Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage

بواسطة Zerdoumi, Yasmine, Lanos, Raphaël, Raad, Sabine, Flaman, Jean-Michel, Bougeard, Gaëlle, Frebourg, Thierry, Tournier, Isabelle
الحاوية / القاعدة Hum Mol Genet (2017)

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

بواسطة Soukarieh, Omar, Gaildrat, Pascaline, Hamieh, Mohamad, Drouet, Aurélie, Baert-Desurmont, Stéphanie, Frébourg, Thierry, Tosi, Mario, Martins, Alexandra
الحاوية / القاعدة PLoS Genet (2016)

Correction: Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

بواسطة Soukarieh, Omar, Gaildrat, Pascaline, Hamieh, Mohamad, Drouet, Aurélie, Baert-Desurmont, Stéphanie, Frébourg, Thierry, Tosi, Mario, Martins, Alexandra
الحاوية / القاعدة PLoS Genet (2016)

Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers

بواسطة Houlle, Solene, Charbonnier, Françoise, Houivet, Estelle, Tinat, Julie, Buisine, Marie-Pierre, Caron, Olivier, Benichou, Jacques, Baert-Desurmont, Stéphanie, Frebourg, Thierry
منشور في 2011

Reply to Talseth-Palmer et al

بواسطة Houlle, Solene, Charbonnier, Françoise, Houivet, Estelle, Tinat, Julie, Buisine, Marie-Pierre, Caron, Olivier, Benichou, Jacques, Baert-Desurmont, Stéphanie, Frebourg, Thierry
منشور في 2012

Amino-terminal p53 mutations lead to expression of apoptosis proficient p47 and prognosticate better survival, but predispose to tumorigenesis

بواسطة Phang, Beng Hooi, Othman, Rashidah, Bougeard, Gaelle, Chia, Ren Hui, Frebourg, Thierry, Tang, Choong Leong, Cheah, Peh Yean, Sabapathy, Kanaga
الحاوية / القاعدة Proc Natl Acad Sci U S A (2015)

When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20

بواسطة Hureaux, Marguerite, Chantot-Bastaraud, Sandra, Cassinari, Kévin, Martinez Casado, Edouard, Cuny, Ariane, Frébourg, Thierry, Vargas-Poussou, Rosa, Bréhin, Anne-Claire
الحاوية / القاعدة Mol Cytogenet (2021)

Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome

بواسطة Heymann, Steve, Delaloge, Suzette, Rahal, Arslane, Caron, Olivier, Frebourg, Thierry, Barreau, Lise, Pachet, Corinne, Mathieu, Marie-Christine, Marsiglia, Hugo, Bourgier, Céline
منشور في 2010

Worse prognosis of KRAS c.35 G > A mutant metastatic colorectal cancer (MCRC) patients treated with intensive triplet chemotherapy plus bevacizumab (FIr-B/FOx)

بواسطة Bruera, Gemma, Cannita, Katia, Di Giacomo, Daniela, Lamy, Aude, Frébourg, Thierry, Sabourin, Jean Christophe, Tosi, Mario, Alesse, Edoardo, Ficorella, Corrado, Ricevuto, Enrico
منشور في 2013

Regulatory T Lymphocytes Are Associated with Less Aggressive Histologic Features in Microsatellite-Unstable Colorectal Cancers

بواسطة Tougeron, David, Maby, Pauline, Elie, Nicolas, Fauquembergue, Émilie, Le Pessot, Florence, Cornic, Marie, Sabourin, Jean-Christophe, Michel, Pierre, Frébourg, Thierry, Latouche, Jean-Baptiste
منشور في 2013