Thierry Frebourg†: search on Z-Library

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1

A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects

Isabelle Tournier, Myriam Vezain, Alexandra Martins, Françoise Charbonnier, Stéphanie Baert-Desurmont, Sylviane Olschwang, Qing Wang, Marie Pierre Buisine, Johann Soret, Jamal Tazi, Thierry Frébourg,

Journal:

Year:

2008

Language:

english

File:

PDF, 364 KB

english, 2008

2

The L392V mutation of presenilin 1 associated with autosomal dominant early-onset Alzheimerʼs disease alters the secondary structure of the hydrophilic loop

Gantier, René, Dumanchin, Cécile, Campion, Dominique, Loutelier, Corinne, Lange, Catherine, Gagnon, Jean, Davoust, Daniel, Frébourg, Thierry, Toma, Flavio

Journal:

Year:

1999

Language:

english

File:

PDF, 885 KB

english, 1999

3

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

Feuillette, SÃ©bastien, Charbonnier, Camille, Frebourg, Thierry, Campion, Dominique, Lecourtois, Magalie

Journal:

Frontiers in Neuroscience

Year:

2020

Language:

english

File:

PDF, 8.71 MB

english, 2020

4

Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome

Kratz, Christian P., Achatz, Maria Isabel, Brugières, Laurence, Frebourg, Thierry, Garber, Judy E., Greer, Mary-Louise C., Hansford, Jordan R., Janeway, Katherine A., Kohlmann, Wendy K., McGee, Rose,

Journal:

Clinical Cancer Research

Year:

2017

Language:

english

File:

PDF, 340 KB

english, 2017

5

Biofilm formation on pyrolytic carbon heart valves: Influence of surface free energy, roughness, and bacterial species

Pierre-Yves Litzler, Laetitia Benard, Noëlle Barbier-Frebourg, Sebastien Vilain, Thierry Jouenne, Eric Beucher, Claude Bunel, Jean-François Lemeland, Jean-Paul Bessou

Journal:

The Journal of Thoracic and Cardiovascular Surgery

Year:

2007

Language:

english

File:

PDF, 687 KB

english, 2007

6

La révolution du séquençage de nouvelle génération

Frebourg, Thierry

Journal:

Annales de Pathologie

Year:

2012

Language:

french

File:

PDF, 178 KB

french, 2012

7

Largeâscale comparative evaluation of userâfriendly tools for predicting variantâinduced alterations of splicing regulatory elements

Tubeuf, HÃ©lÃ¨ne, Charbonnier, Camille, Soukarieh, Omar, Blavier, AndrÃ©, Lefebvre, Arnaud, Dauchel, HÃ©lÃ¨ne, Frebourg, Thierry, Gaildrat, Pascaline, Martins, Alexandra

Journal:

Year:

2020

File:

PDF, 1009 KB

2020

8

Value of microsatellite instability typing in detecting hereditary non-polyposis colorectal cancer: A prospective multicentric study by the Association Aquitaine Gastro

Yves Bécouarn, Anne Rullier, Philippe Gorry, Denis Smith, Bruno Richard-Molard, Emmanuel Echinard, Patrick Texereau, Richard Beyssac, Jean-Louis Legoux, Hervé Lamouliatte, Thierry Frebourg, Sylviane O

Journal:

Gastroentérologie Clinique et Biologique

Year:

2005

File:

PDF, 163 KB

2005

9

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

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

Journal:

Radiation Oncology

Year:

2010

Language:

english

File:

PDF, 218 KB

english, 2010

10

Cardiac conduction alterations in a French family with amyloidosis of the finnish type with the p.Asp187Tyr mutation in the GSN gene

Nathalie Chastan, Stéphanie Baert-Desurmont, Pascale Saugier-Veber, Geneviève Dérumeaux, Annick Cabot, Thierry Frébourg, Didier Hannequin

Journal:

Year:

2006

Language:

english

File:

PDF, 1.05 MB

english, 2006

11

Contribution of the BOP1 gene, located on 8q24, to colorectal tumorigenesis

Audrey Killian, Nasrin Sarafan-Vasseur, Richard Sesboüé, Florence Le Pessot, France Blanchard, Aude Lamy, Michelle Laurent, Jean-Michel Flaman, Thierry Frébourg

Journal:

Genes, Chromosomes and Cancer

Year:

2006

Language:

english

File:

PDF, 365 KB

english, 2006

12

Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma

Delphine Trochet, Franck Bourdeaut, Isabelle Janoueix-Lerosey, Anne Deville, Loïc de Pontual, Gudrun Schleiermacher, Carole Coze, Nicole Philip, Thierry Frébourg, Arnold Munnich, Stanislas Lyonnet, Ol

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 140 KB

english, 2004

13

Prognostic value ofKRASgenotype in metastatic colorectal cancer (MCRC) patients treated with intensive triplet chemotherapy plus bevacizumab (FIr-B/FOx) according to extension of metastatic disease

Gemma Bruera, Katia Cannita, Daniela Di Giacomo, Aude Lamy, Giancarlo Troncone, Antonella Dal Mas, Gino Coletti, Thierry Frébourg, Jean Christophe Sabourin, Mario Tosi, Corrado Ficorella, Enrico Ricev

Journal:

Year:

2012

Language:

english

File:

PDF, 234 KB

english, 2012

14

The Challenge for the Next Generation of Medical Geneticists

Frebourg, Thierry

Journal:

Year:

2014

Language:

english

File:

PDF, 172 KB

english, 2014

15

Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements

Di Giacomo, Daniela, Gaildrat, Pascaline, Abuli, Anna, Abdat, Julie, Frébourg, Thierry, Tosi, Mario, Martins, Alexandra

Journal:

Year:

2013

Language:

english

File:

PDF, 1.71 MB

english, 2013

16

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient

Le Guennec, Kilan, Tubeuf, Hélène, Hannequin, Didier, Wallon, David, Quenez, Olivier, Rousseau, Stéphane, Richard, Anne-Claire, Deleuze, Jean-François, Boland, Anne, Frebourg, Thierry, Gaildrat, Pasca

Journal:

Journal of Alzheimer's Disease

Year:

2018

Language:

english

File:

PDF, 781 KB

english, 2018

17

Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing

Husson, Thomas, Duboc, Jean-Baptiste, Quenez, Olivier, Charbonnier, Camille, Rotharmel, Maud, Cuenca, Macarena, Jegouzo, Xavier, Richard, Anne-Claire, Frebourg, Thierry, Deleuze, Jean-François, Boland

Journal:

Translational Psychiatry

Year:

2018

Language:

english

File:

PDF, 354 KB

english, 2018

18

P3-239 Tau is not degraded in vitro in SH5Y-SY human cells by the 26S proteasome under physiological conditions

Dumanchin, Cecile, Feuillette, Sebastien, Frebourg, Thierry, Campion, Dominique

Journal:

Neurobiology of Aging

Year:

2004

Language:

english

File:

PDF, 158 KB

english, 2004

19

Lung Adenocarcinoma as Part of the Li-Fraumeni Syndrome Spectrum

Caron, Olivier, Frebourg, Thierry, Benusiglio, Patrick R., Foulon, Stéphanie, Brugières, Laurence

Journal:

Year:

2017

Language:

english

File:

PDF, 114 KB

english, 2017

20

The evaluation of CA 19-9 antigen level in the early detection of pancreatic cancer: A prospective study of 866 patients

Thierry Frebourg, Eric Bercoff, Nicolas Manchon, Jacques Senant, Jean-Pierre Basuyau, Pascal Breton, Alain Janvresse, Philippe Brunelle, Jacques Bourreille

Journal:

Year:

1988

Language:

english

File:

PDF, 451 KB

english, 1988

21

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

Federica Casilli, Zorika Christiana Di Rocco, Sophie Gad, Isabelle Tournier, Dominique Stoppa-Lyonnet, Thierry Frebourg, Mario Tosi

Journal:

Year:

2002

Language:

english

File:

PDF, 296 KB

english, 2002

22

Pathologie moléculaire tumorale : à propos du génotypage de KRAS dans les carcinomes colorectaux

Jean-Christophe Sabourin, Aude Lamy, Florence Le Pessot, Richard Sesboüé, Thierry Frébourg

Journal:

Revue Francophone des Laboratoires

Year:

2010

Language:

french

File:

PDF, 230 KB

french, 2010

23

Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer

Baert-Desurmont, Stephanie, Buisine, Marie-Pierre, Bessenay, Emilie, Frerot, Stephanie, Lovecchio, Tonio, Martin, Cosette, Olschwang, Sylviane, Wang, Qing, Frebourg, Thierry

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 165 KB

english, 2007

24

The Rapp–Hodgkin syndrome results from mutations of the TP63 gene

Bougeard, Gaëlle, Hadj-Rabia, Smaïl, Faivre, Laurence, Sarafan-Vasseur, Nasrin, Frébourg, Thierry

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 196 KB

english, 2003

25

Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation

Crahes, Marie, Saugier-Veber, Pascale, Patrier, Sophie, Aziz, Moutaz, Pirot, Nathalie, Brasseur-Daudruy, Marie, Layet, Valérie, Frébourg, Thierry, Laquerrière, Annie

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 3.66 MB

english, 2013

26

Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood

Tabori, Uri, Hansford, Jordan R., Achatz, Maria Isabel, Kratz, Christian P., Plon, Sharon E., Frebourg, Thierry, Brugières, Laurence

Journal:

Clinical Cancer Research

Year:

2017

Language:

english

File:

PDF, 418 KB

english, 2017

27

Hyperprolinemia is not associated with childhood onset schizophrenia

Hélène Jacquet, Judith L. Rapoport, Bernadette Hecketsweiler, Aaron Bobb, Florence Thibaut, Thierry Frébourg, Dominique Campion

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2006

Language:

english

File:

PDF, 40 KB

english, 2006

28

p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements

Campomenosi, Paola, Monti, Paola, Aprile, Anna, Abbondandolo, Angelo, Frebourg, Thierry, Gold, Barry, Crook, Tim, Inga, Alberto, Resnick, Michael A, Iggo, Richard

Journal:

Year:

2001

Language:

english

File:

PDF, 189 KB

english, 2001

29

Accumulation of insoluble forms of FUS protein correlates with toxicity in Drosophila

Laetitia Miguel, Tracey Avequin, Morgane Delarue, Sébastien Feuillette, Thierry Frébourg, Dominique Campion, Magalie Lecourtois

Journal:

Neurobiology of Aging

Year:

2012

Language:

english

File:

PDF, 3.75 MB

english, 2012

30

Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium

Phuong L. Mai, David Malkin, Judy E. Garber, Joshua D. Schiffman, Jeffrey N. Weitzel, Louise C. Strong, Oliver Wyss, Luana Locke, Von Means, Maria Isabel Achatz, Pierre Hainaut, Thierry Frebourg, D. G

Journal:

Cancer Genetics

Year:

2012

Language:

english

File:

PDF, 170 KB

english, 2012

31

Fraser syndrome: Features suggestive of prenatal diagnosis in a review of 38 cases.

Tessier, Aude, Sarreau, Mélie, Pelluard, Fanny, André, Gwenaelle, Blesson, Sophie, Bucourt, Martine, Dechelotte, Pierre, Faivre, Laurence, Frébourg, Thierry, Goldenberg, Alice, Goua, Valérie, Jeanne-P

Journal:

Prenatal Diagnosis

Year:

2016

Language:

english

File:

PDF, 1.03 MB

english, 2016

32

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

Myriam Vezain, Pascale Saugier-Veber, Elisa Goina, Renaud Touraine, Véronique Manel, Annick Toutain, Séverine Fehrenbach, Thierry Frébourg, Franco Pagani, Mario Tosi, Alexandra Martins

Journal:

Year:

2010

Language:

english

File:

PDF, 405 KB

english, 2010

33

Deciphering the colon cancer genes—report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010

Maija R.J. Kohonen-Corish, Finlay Macrae, Maurizio Genuardi, Stefan Aretz, Bharati Bapat, Inge T. Bernstein, John Burn, Richard G.H. Cotton, Johan T. den Dunnen, Thierry Frebourg, Marc S. Greenblatt,

Journal:

Year:

2011

Language:

english

File:

PDF, 114 KB

english, 2011

34

Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome

Jean-Marc Limacher, Thierry Frebourg, Shanti Natarajan-Ame, Jean-Pierre Bergerat

Journal:

International Journal of Cancer

Year:

2001

Language:

english

File:

PDF, 276 KB

english, 2001

35

Tau is not normally degraded by the proteasome

Sébastien Feuillette, Olivier Blard, Magalie Lecourtois, Thierry Frébourg, Dominique Campion, Cécile Dumanchin

Journal:

Journal of Neuroscience Research

Year:

2005

Language:

english

File:

PDF, 243 KB

english, 2005

36

Discordances multiples entre dépistage de la trisomie 21 sur ADN libre circulant, caryotype et échographie fœtale compliquant la prise en charge de la grossesse

Cassinari, Kévin, Joly-Helas, Géraldine, Le Meur, Nathalie, Coursimault, Juliette, Diguet, Alain, Verspyck, Eric, Torre, Stéphanie, Macé, Bertrand, Frebourg, Thierry, Chambon, Pascal

Journal:

Year:

2019

File:

PDF, 311 KB

2019

37

Guidelines for the LiâFraumeni and heritable TP53-related cancer syndromes

Frebourg, Thierry, Bajalica Lagercrantz, Svetlana, Oliveira, Carla, Magenheim, Rita, Evans, D. Gareth

Journal:

European Journal of Human Genetics

Year:

2020

File:

PDF, 454 KB

2020

38

Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion

Pascale Saugier-Veber, Diane Doummar, Marie-Anne Barthez, Virginie Czernecki, Nathalie Drouot, Emmanuelle Apartis, Lydie Bürglen, Thierry Frebourg, Emmanuel Roze

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 195 KB

english, 2010

39

Is the Saitohin gene involved in neurodegenerative diseases?

Patrice Verpillat, Sylvain Ricard, Didier Hannequin, Bruno Dubois, Jacqueline Bou, Agnès Camuzat, Laurent Pradier, Thierry Frebourg, Alexis Brice, Françoise Clerget-Darpoux, Jean-François Deleuze, Dom

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 69 KB

english, 2002

40

Both cytoplasmic and nuclear accumulations of the protein are neurotoxic in Drosophila models of TDP-43 proteinopathies

Laetitia Miguel, Thierry Frébourg, Dominique Campion, Magalie Lecourtois

Journal:

Neurobiology of Disease

Year:

2011

Language:

english

File:

PDF, 2.07 MB

english, 2011

41

P53 MUTATIONS IN BLADDER TUMORS INACTIVATE THE TRANSACTIVATION OF THE P21 AND BAX GENES, AND HAVE A PREDICTIVE VALUE FOR THE CLINICAL OUTCOME AFTER BACILLUS CALMETTE-GUERIN THERAPY

PFISTER, CHRISTIAN, FLAMAN, JEAN MICHEL, DUNET, FREDERICK, GRISE, PHILIPPE, FREBOURG, THIERRY

Journal:

The Journal of Urology

Year:

1999

Language:

english

File:

PDF, 596 KB

english, 1999

42

Inhibition of tumor growth and metastatic spreading by overexpression of inter-alpha-trypsin inhibitor family chains

Sébastien Paris, Richard Sesboüé, Bertrand Delpech, Claude Chauzy, Luc Thiberville, Jean-Pierre Martin, Thierry Frébourg, Maryam Diarra-Mehrpour

Journal:

International Journal of Cancer

Year:

2002

Language:

english

File:

PDF, 420 KB

english, 2002

43

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease

Anne Rovelet-Lecrux, Vincent Deramecourt, Solenn Legallic, Claude-Alain Maurage, Isabelle Le Ber, Alexis Brice, Jean-Charles Lambert, Thierry Frébourg, Didier Hannequin, Florence Pasquier, Dominique C

Journal:

Neurobiology of Disease

Year:

2008

Language:

english

File:

PDF, 701 KB

english, 2008

44

Co-segregation of thrombosis with the factor V Q506 mutation in an extended family with resistance to activated protein C

Sylvie Beufé, Jeanne-Yvonne Borg, Marc Vasse, Francloise Charbonnier, Viviane Moreau, Mathieu Monconduit, Thierry Frebourg

Journal:

British Journal of Haematology

Year:

1995

Language:

english

File:

PDF, 294 KB

english, 1995

45

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

Soukarieh, Omar, Gaildrat, Pascaline, Hamieh, Mohamad, Drouet, Aurélie, Baert-Desurmont, Stéphanie, Frébourg, Thierry, Tosi, Mario, Martins, Alexandra

Journal:

Year:

2016

Language:

english

File:

PDF, 149 KB

english, 2016

46

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

Myriam Vezain, Bénédicte Gérard, Séverine Drunat, Benoît Funalot, Séverine Fehrenbach, Virginie N'Guyen-Viet, Jean-Michel Vallat, Thierry Frébourg, Mario Tosi, Alexandra Martins, Pascale Saugier-Veber

Journal:

Year:

2011

Language:

english

File:

PDF, 265 KB

english, 2011

47

Clinical value of chip-based digital-PCR platform for the detection of circulating DNA in metastatic colorectal cancer

Sefrioui, David, Sarafan-Vasseur, Nasrin, Beaussire, Ludivine, Baretti, Marina, Gangloff, Alice, Blanchard, France, Clatot, Florian, Sabourin, Jean-Christophe, Sesboüé, Richard, Frebourg, Thierry, Mic

Journal:

Digestive and Liver Disease

Year:

2015

Language:

english

File:

PDF, 345 KB

english, 2015

48

Duodenal adenocarcinoma and Mut Y human homologue-associated polyposis

Buecher, Bruno, Baert-Desurmont, Stéphanie, Leborgne, Joël, Humeau, Benoît, Olschwang, Sylviane, Frébourg, Thierry

Journal:

European Journal of Gastroenterology & Hepatology

Year:

2008

Language:

english

File:

PDF, 61 KB

english, 2008

49

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

Zerdoumi, Yasmine, Lanos, Raphaël, Raad, Sabine, Flaman, Jean-Michel, Bougeard, Gaëlle, Frebourg, Thierry, Tournier, Isabelle

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 41 KB

english, 2017

50

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

Pons, Marine, Prieto, Silvia, Miguel, Laetitia, Frebourg, Thierry, Campion, Dominique, Suñé, Carles, Lecourtois, Magalie

Journal:

Acta Neuropathologica Communications

Year:

2018

Language:

english

File:

PDF, 4.63 MB

english, 2018

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