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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:

Année:

2008

Langue:

english

Fichier:

PDF, 364 KB

english, 2008

2

Catastrophic event recorded among Holocene eolianites (Sidi Salem Formation, SE Tunisia)

Gregory Frébourg, Claude-Alain Hasler, Eric Davaud

Journal:

Sedimentary Geology

Année:

2010

Langue:

english

Fichier:

PDF, 1.46 MB

english, 2010

3

Évaluation de l’apport du séquençage haut débit à l’identification des altérations moléculaires d’intérêt théranostique dans les tumeurs

Lamy, A., Tournier, I., Angot, E., Blanchard, F., Charbonnier, F., Coutant, S., Frébourg, T., Sabourin, J.-C.

Journal:

Annales de Pathologie

Année:

2012

Langue:

french

Fichier:

PDF, 44 KB

french, 2012

4

Depositional controls on sediment body architecture in the Eagle Ford/Boquillas system: Insights from outcrops in west Texas, United States

Frébourg, Gregory, Ruppel, Stephen C., Loucks, Robert G., Lambert, Josh

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 7.41 MB

english, 2016

5

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:

Année:

2006

Langue:

english

Fichier:

PDF, 1.05 MB

english, 2006

6

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

Année:

2010

Langue:

english

Fichier:

PDF, 218 KB

english, 2010

7

AN AEOLIANITE IN THE UPPER DALAN MEMBER (KHUFF FORMATION), SOUTH PARS FIELD, IRAN

G. Frébourg, E. Davaud, J. Gaillot, A. Virgone, M. Kamali

Journal:

Journal of Petroleum Geology

Année:

2010

Langue:

english

Fichier:

PDF, 1.94 MB

english, 2010

8

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

Année:

2007

Langue:

english

Fichier:

PDF, 687 KB

english, 2007

9

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

Année:

2005

Fichier:

PDF, 163 KB

2005

10

La révolution du séquençage de nouvelle génération

Frebourg, Thierry

Journal:

Annales de Pathologie

Année:

2012

Langue:

french

Fichier:

PDF, 178 KB

french, 2012

11

Les techniques FISH/CISH : applications en histopathologie

Sabourin, J.C., Le Pessot, F., Frebourg, T.

Journal:

Annales de Pathologie

Année:

2007

Langue:

french

Fichier:

PDF, 146 KB

french, 2007

12

Marqueurs prédictifs de la réponse clinique au cetuximab (erbitux®) chez 58 patients traités pour cancer colo-rectal métastatique

Le Pessot, F., Di Fiore, F., Blanchard, F., Killian, A., Tuech, J.J., Frébourg, T., Sabourin, J.C.

Journal:

Annales de Pathologie

Année:

2006

Langue:

french

Fichier:

PDF, 117 KB

french, 2006

13

Gastrectomie totale prophylactique dans le cadre du cancer gastrique diffus héréditaire

Le Loarer, F., Le Pessot, F., Lemoine, F., Scotté, M., Frébourg, T., Sabourin, J.C.

Journal:

Annales de Pathologie

Année:

2006

Langue:

french

Fichier:

PDF, 147 KB

french, 2006

14

Le laboratoire de Génétique Somatique des Tumeurs du CHU de Rouen

Sabourin, J.C., Le Pessot, F., Lamy, A., Frebourg, T.

Journal:

Annales de Pathologie

Année:

2007

Langue:

french

Fichier:

PDF, 172 KB

french, 2007

15

Impact pronostique de la détection simultanée d’altérations moléculaires quantitatives par QMPSF dans les cancers du côlon stade II et III

Armengol-Debeir, L., Killian, A., Sesboué, R., Lamy, A., Tuech, J.-J., Sabourin, J.-C., Frébourg, T., Michel, P., Di Fiore, F.

Journal:

Annales de Pathologie

Année:

2011

Langue:

french

Fichier:

PDF, 254 KB

french, 2011

16

Fine-scale human genetic structure in Western France

Karakachoff, Matilde, Duforet-Frebourg, Nicolas, Simonet, Floriane, Le Scouarnec, Solena, Pellen, Nadine, Lecointe, Simon, Charpentier, Eric, Gros, Françoise, Cauchi, Stéphane, Froguel, Philippe, Copi

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.98 MB

english, 2015

17

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

Lagerstedt Robinson, K., Liu, T., Vandrovcova, J., Halvarsson, B., Clendenning, M., Frebourg, T., Papadopoulos, N., Kinzler, K. W., Vogelstein, B., Peltomaki, P., Kolodner, R. D., Nilbert, M., Lindblo

Journal:

JNCI Journal of the National Cancer Institute

Année:

2007

Langue:

english

Fichier:

PDF, 155 KB

english, 2007

18

Isolation-by-distance-and-time in a stepping-stone model

Duforet-Frebourg, Nicolas, Slatkin, Montgomery

Journal:

Theoretical Population Biology

Année:

2015

Langue:

english

Fichier:

PDF, 1.45 MB

english, 2015

19

The carbonate-evaporite lagoon of Al Dakhirah (Qatar): an example of a modern depositional model controlled by longshore transport

Billeaud, I., Caline, B., Livas, B., Tessier, B., Davaud, E., Frebourg, G., Hasler, C.-A., Laurier, D., Pabian-Goyheneche, C.

Journal:

Geological Society London Special Publications

Année:

2014

Langue:

english

Fichier:

PDF, 13.88 MB

english, 2014

20

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:

Année:

1999

Langue:

english

Fichier:

PDF, 885 KB

english, 1999

21

Nanometric emulsions encapsulating solid particles as alternative carriers for intracellular delivery

Quignard, Sandrine, Frébourg, Ghislaine, Chen, Yong, Fattaccioli, Jacques

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 5.35 MB

english, 2016

22

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

Année:

2017

Langue:

english

Fichier:

PDF, 340 KB

english, 2017

23

SCALABLE PROCESS TO PRODUCE LIPID-BASED COMPARTMENTED JANUS NANOPARTICLES WITH PHARMACEUTICALLY APPROVED EXCIPIENTS

Cong, Tri Truong, Millart, Elodie, Tran, Le Tuyet Chau, Amenitsch, Heinz, Frébourg, Ghislaine, Lesieur, Sylviane, Faivre, Vincent

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 2.98 MB

english, 2018

24

Geologic Modeling of Eagle Ford Facies Continuity Based on Outcrop Images and Depositional Processes

Tahmasebi, Pejman, Javadpour, Farzam, Frébourg, Gregory

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 2.13 MB

english, 2018

25

Infective endocarditis after transcatheter aortic valve implantation. A comparison with endocarditis occurring in surgical aortic prosthesis and native aortic valve patients

Flouriot, C., Avinee, G., Joulakian, M., Alarçon, C., Marchand, C., Savouré, A., Durand, E., Tron, C., Frebourg, N., Litzler, P.Y., Chapuzet, C., Eltchaninoff, H.

Journal:

Archives of Cardiovascular Diseases Supplements

Année:

2019

Langue:

english

Fichier:

PDF, 261 KB

english, 2019

26

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

Année:

2020

Langue:

english

Fichier:

PDF, 8.71 MB

english, 2020

27

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:

Année:

2020

Fichier:

PDF, 1009 KB

2020

28

Inactivation of p53 in normal human cells increases G2/M arrest and sensitivity to DNA-damaging agents

Jocelyn Céraline, Gaël Deplanque, Brigitte Duclos, Jean-Marc Limacher, Amor Hajri, Francine Noel, Christophe Orvain, Thierry Frébourg, Claudine Klein-Soyer, Jean-Pierre Bergerat

Journal:

International Journal of Cancer

Année:

1998

Langue:

english

Fichier:

PDF, 206 KB

english, 1998

29

Serum hyaluronate in malignant pleural mesothelioma

Thierry Frebourg, Guy Lerebours, Bertrand Delpech, Daniel Benhamou, Philippe Bertrand, Catherine Maingonnat, Christian Boutin, Georges Nouvet

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 339 KB

english, 1987

30

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:

Année:

1988

Langue:

english

Fichier:

PDF, 451 KB

english, 1988

31

A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease

G. Raux, R. Gantier, C. Martin, Y. Pothin, A. Brice, T. Frebourg, D. Campion

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 10 KB

english, 2000

32

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling

Valérie Drouin-Garraud, Mathilde Belgrand, Stéphanie Grünewald, Nathalie Seta, Jean-Nicolas Dacher, Alain Hénocq, Gert Matthijs, Valérie Cormier-Daire, Thierry Frébourg, Pascale Saugier-Veber

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 76 KB

english, 2001

33

Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg)

Andréas Andreou, Aude Lamy, Valérie Layet, Daniel Cailliez, Françoise Gobet, Christian Pfister, Michel Menard, Thierry Frebourg

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 107 KB

english, 2006

34

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

Année:

2010

Langue:

english

Fichier:

PDF, 195 KB

english, 2010

35

A remarkable APC mosaicism with two mutant alleles in a family with familial adenomatous polyposis

Stéphanie Baert-Desurmont, Nicolas Piton, Jacqueline Bou, Julie Tinat, Rosine Guimbaud, Janick Selves, Thierry Frébourg

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 533 KB

english, 2011

36

Pitfalls in the use of DGV for CNV interpretation

Aude Duclos, Françoise Charbonnier, Pascal Chambon, Jean-Baptiste Latouche, André Blavier, Richard Redon, Thierry Frébourg, Jean-Michel Flaman

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 85 KB

english, 2011

37

Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation

Lucie Maréchal, Grégory Raux, Cécile Dumanchin, Guillaume Lefebvre, Emmanuelle Deslandre, Carole Girard, Dominique Campion, Dominique Parain, Thierry Frebourg, Didier Hannequin

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 55 KB

english, 2003

38

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

Année:

2006

Langue:

english

Fichier:

PDF, 40 KB

english, 2006

39

No pathogenic rearrangement within the DISC 1 gene in psychosis

Solenn Legallic, Jacqueline Bou, Sadeq Haouzir, Gabrielle Allio, Caroline Demily, Michel Petit, Thierry Frebourg, Florence Thibaut, Dominique Campion

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 69 KB

english, 2009

40

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

Année:

2002

Langue:

english

Fichier:

PDF, 69 KB

english, 2002

41

Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect

Stéphane Auroy, Marie-Françoise Avril, Agnès Chompret, Danièle Pham, Alisa M. Goldstein, Giovanna Bianchi-Scarrà, Thierry Frebourg, Pascal Joly, Alain Spatz, Carole Rubino, Florence Demenais, Brigitte

Journal:

Genes, Chromosomes and Cancer

Année:

2001

Langue:

english

Fichier:

PDF, 122 KB

english, 2001

42

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

Année:

2006

Langue:

english

Fichier:

PDF, 365 KB

english, 2006

43

Non-Hodgkin lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in the MSH2 gene

M. Pineda, E. Castellsagué, E. Musulén, G. Llort, T. Frebourg, S. Baert-Desurmont, S. González, G. Capellá, I. Blanco

Journal:

Genes, Chromosomes and Cancer

Année:

2008

Langue:

english

Fichier:

PDF, 811 KB

english, 2008

44

Serum hyaluronate in liver diseases: Study by enzymoimmunological assay

Thierry Frébourg, Bertrand Delpech, Eric Bercoff, Professor Jacques Senant, Philippe Bertrand, Yves Deugnier, Jacques Bourreille

Journal:

Année:

1986

Langue:

english

Fichier:

PDF, 445 KB

english, 1986

45

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:

Année:

2002

Langue:

english

Fichier:

PDF, 296 KB

english, 2002

46

Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method

Isabelle Tournier, Grégory Raux, Fréderic Di Fiore, Isabelle Maréchal, Carole Leclerc, Cosette Martin, Qing Wang, Marie-Pierre Buisine, Dominique Stoppa-Lyonnet, Sylviane Olschwang, Thierry Frébourg,

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 215 KB

english, 2004

47

Partial deletion of the MAPT gene: A novel mechanism of FTDP-17

Anne Rovelet-Lecrux, Magalie Lecourtois, Catherine Thomas-Anterion, Isabelle Le Ber, Alexis Brice, Thierry Frebourg, Didier Hannequin, Dominique Campion

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 338 KB

english, 2009

48

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:

Année:

2010

Langue:

english

Fichier:

PDF, 405 KB

english, 2010

49

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:

Année:

2011

Langue:

english

Fichier:

PDF, 114 KB

english, 2011

50

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:

Année:

2011

Langue:

english

Fichier:

PDF, 265 KB

english, 2011