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Items: 1 to 20 of 70

1.

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.

Saugier-Veber P, Marguet F, Lecoquierre F, Adle-Biassette H, Guimiot F, Cipriani S, Patrier S, Brasseur-Daudruy M, Goldenberg A, Layet V, Capri Y, Gérard M, Frébourg T, Laquerrière A.

Acta Neuropathol Commun. 2017 May 1;5(1):36. doi: 10.1186/s40478-017-0438-4.

2.

OutLyzer: software for extracting low-allele-frequency tumor mutations from sequencing background noise in clinical practice.

Muller E, Goardon N, Brault B, Rousselin A, Paimparay G, Legros A, Fouillet R, Bruet O, Tranchant A, Domin F, San C, Quesnelle C, Frebourg T, Ricou A, Krieger S, Vaur D, Castera L.

Oncotarget. 2016 Nov 29;7(48):79485-79493. doi: 10.18632/oncotarget.13103.

3.

Kinetics, prognostic and predictive values of ESR1 circulating mutations in metastatic breast cancer patients progressing on aromatase inhibitor.

Clatot F, Perdrix A, Augusto L, Beaussire L, Delacour J, Calbrix C, Sefrioui D, Viailly PJ, Bubenheim M, Moldovan C, Alexandru C, Tennevet I, Rigal O, Guillemet C, Leheurteur M, Gouérant S, Petrau C, Théry JC, Picquenot JM, Veyret C, Frébourg T, Jardin F, Sarafan-Vasseur N, Di Fiore F.

Oncotarget. 2016 Nov 15;7(46):74448-74459. doi: 10.18632/oncotarget.12950.

4.

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

Mirkovic B, Laurent C, Podlipski MA, Frebourg T, Cohen D, Gerardin P.

Front Psychiatry. 2016 Sep 23;7:158. eCollection 2016. Review.

5.

Detection and prognostic value of recurrent exportin 1 mutations in tumor and cell-free circulating DNA of patients with classical Hodgkin lymphoma.

Camus V, Stamatoullas A, Mareschal S, Viailly PJ, Sarafan-Vasseur N, Bohers E, Dubois S, Picquenot JM, Ruminy P, Maingonnat C, Bertrand P, Cornic M, Tallon-Simon V, Becker S, Veresezan L, Frebourg T, Vera P, Bastard C, Tilly H, Jardin F.

Haematologica. 2016 Sep;101(9):1094-101. doi: 10.3324/haematol.2016.145102. Epub 2016 Jun 13.

6.

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

Soukarieh O, Gaildrat P, Hamieh M, Drouet A, Baert-Desurmont S, Frébourg T, Tosi M, Martins A.

PLoS Genet. 2016 Apr 6;12(4):e1005971. doi: 10.1371/journal.pgen.1005971. eCollection 2016 Apr. No abstract available.

7.

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

Soukarieh O, Gaildrat P, Hamieh M, Drouet A, Baert-Desurmont S, Frébourg T, Tosi M, Martins A.

PLoS Genet. 2016 Jan 13;12(1):e1005756. doi: 10.1371/journal.pgen.1005756. eCollection 2016 Jan. Erratum in: PLoS Genet. 2016 Apr;12(4):e1005971.

8.

GENESIS: a French national resource to study the missing heritability of breast cancer.

Sinilnikova OM, Dondon MG, Eon-Marchais S, Damiola F, Barjhoux L, Marcou M, Verny-Pierre C, Sornin V, Toulemonde L, Beauvallet J, Le Gal D, Mebirouk N, Belotti M, Caron O, Gauthier-Villars M, Coupier I, Buecher B, Lortholary A, Dugast C, Gesta P, Fricker JP, Noguès C, Faivre L, Luporsi E, Berthet P, Delnatte C, Bonadona V, Maugard CM, Pujol P, Lasset C, Longy M, Bignon YJ, Adenis C, Venat-Bouvet L, Demange L, Dreyfus H, Frenay M, Gladieff L, Mortemousque I, Audebert-Bellanger S, Soubrier F, Giraud S, Lejeune-Dumoulin S, Chevrier A, Limacher JM, Chiesa J, Fajac A, Floquet A, Eisinger F, Tinat J, Colas C, Fert-Ferrer S, Penet C, Frebourg T, Collonge-Rame MA, Barouk-Simonet E, Layet V, Leroux D, Cohen-Haguenauer O, Prieur F, Mouret-Fourme E, Cornélis F, Jonveaux P, Bera O, Cavaciuti E, Tardivon A, Lesueur F, Mazoyer S, Stoppa-Lyonnet D, Andrieu N.

BMC Cancer. 2016 Jan 12;16:13. doi: 10.1186/s12885-015-2028-9.

9.

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

Phang BH, Othman R, Bougeard G, Chia RH, Frebourg T, Tang CL, Cheah PY, Sabapathy K.

Proc Natl Acad Sci U S A. 2015 Nov 17;112(46):E6349-58. doi: 10.1073/pnas.1510043112. Epub 2015 Nov 2.

10.

A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.

Calvete O, Martinez P, Garcia-Pavia P, Benitez-Buelga C, Paumard-Hernández B, Fernandez V, Dominguez F, Salas C, Romero-Laorden N, Garcia-Donas J, Carrillo J, Perona R, Triviño JC, Andrés R, Cano JM, Rivera B, Alonso-Pulpon L, Setien F, Esteller M, Rodriguez-Perales S, Bougeard G, Frebourg T, Urioste M, Blasco MA, Benítez J.

Nat Commun. 2015 Sep 25;6:8383. doi: 10.1038/ncomms9383.

11.

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.

Nicolas G, Wallon D, Charbonnier C, Quenez O, Rousseau S, Richard AC, Rovelet-Lecrux A, Coutant S, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Munter HM, Bourque G, Auld D, Montpetit A, Lathrop M, Guyant-Maréchal L, Martinaud O, Pariente J, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B, Boutoleau-Bretonnière C, Thomas-Antérion C, Paquet C, Sauvée M, Moreaud O, Gabelle A, Sellal F, Ceccaldi M, Chamard L, Blanc F, Frebourg T, Campion D, Hannequin D.

Eur J Hum Genet. 2016 May;24(5):710-6. doi: 10.1038/ejhg.2015.173. Epub 2015 Aug 5.

12.

Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care.

Muller E, Brault B, Holmes A, Legros A, Jeannot E, Campitelli M, Rousselin A, Goardon N, Frébourg T, Krieger S, Crouet H, Nicolas A, Sastre X, Vaur D, Castéra L.

Cancer Med. 2015 Oct;4(10):1484-93. doi: 10.1002/cam4.492. Epub 2015 Jul 8.

13.

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk.

Baert-Desurmont S, Charbonnier F, Houivet E, Ippolito L, Mauillon J, Bougeard M, Abadie C, Malka D, Duffour J, Desseigne F, Colas C, Pujol P, Lejeune S, Dugast C, Buecher B, Faivre L, Leroux D, Gesta P, Coupier I, Guimbaud R, Berthet P, Manouvrier S, Cauchin E, Prieur F, Laurent-Puig P, Lebrun M, Jonveaux P, Chiesa J, Caron O, Morin-Meschin ME, Polycarpe-Osaer F, Giraud S, Zaanan A, Bonnet D, Mansuy L, Bonadona V, El Chehadeh S, Duhoux F, Gauthier-Villars M, Saurin JC, Collonge-Rame MA, Brugières L, Wang Q, Bressac-de Paillerets B, Rey JM, Toulas C, Buisine MP, Bronner M, Sokolowska J, Hardouin A, Cailleux AF, Sebaoui H, Blot J, Tinat J, Benichou J, Frebourg T.

Eur J Hum Genet. 2016 Jan;24(1):99-105. doi: 10.1038/ejhg.2015.72. Epub 2015 Apr 15.

14.

Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy.

Nicolas G, Wallon D, Goupil C, Richard AC, Pottier C, Dorval V, Sarov-Rivière M, Riant F, Hervé D, Amouyel P, Guerchet M, Ndamba-Bandzouzi B, Mbelesso P, Dartigues JF, Lambert JC, Preux PM, Frebourg T, Campion D, Hannequin D, Tournier-Lasserve E, Hébert SS, Rovelet-Lecrux A.

Eur J Hum Genet. 2016 Jan;24(1):92-8. doi: 10.1038/ejhg.2015.61. Epub 2015 Apr 1.

15.

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

Castéra L, Krieger S, Rousselin A, Legros A, Baumann JJ, Bruet O, Brault B, Fouillet R, Goardon N, Letac O, Baert-Desurmont S, Tinat J, Bera O, Dugast C, Berthet P, Polycarpe F, Layet V, Hardouin A, Frébourg T, Vaur D.

Eur J Hum Genet. 2014 Nov;22(11):1305-13. doi: 10.1038/ejhg.2014.16. Epub 2014 Feb 19.

16.

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia.

Nicolas G, Jacquin A, Thauvin-Robinet C, Rovelet-Lecrux A, Rouaud O, Pottier C, Aubriot-Lorton MH, Rousseau S, Wallon D, Duvillard C, Béjot Y, Frébourg T, Giroud M, Campion D, Hannequin D.

Eur J Hum Genet. 2014 Oct;22(10):1236-8. doi: 10.1038/ejhg.2014.9. Epub 2014 Feb 12.

17.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M; InSiGHT..

Nat Genet. 2014 Feb;46(2):107-15. doi: 10.1038/ng.2854. Epub 2013 Dec 22.

18.

Germline mutations of inhibins in early-onset ovarian epithelial tumors.

Tournier I, Marlin R, Walton K, Charbonnier F, Coutant S, Théry JC, Charbonnier C, Spurrell C, Vezain M, Ippolito L, Bougeard G, Roman H, Tinat J, Sabourin JC, Stoppa-Lyonnet D, Caron O, Bressac-de Paillerets B, Vaur D, King MC, Harrison C, Frebourg T.

Hum Mutat. 2014 Mar;35(3):294-7. doi: 10.1002/humu.22489. Epub 2013 Dec 27.

19.

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.

Degrolard-Courcet E, Sokolowska J, Padeano MM, Guiu S, Bronner M, Chery C, Coron F, Lepage C, Chapusot C, Loustalot C, Jouve JL, Hatem C, Ferrant E, Martin L, Coutant C, Baurand A, Couillault G, Delignette A, El Chehadeh S, Lizard S, Arnould L, Fumoleau P, Callier P, Mugneret F, Philippe C, Frebourg T, Jonveaux P, Faivre L.

Eur J Hum Genet. 2014 Aug;22(8):979-87. doi: 10.1038/ejhg.2013.278. Epub 2013 Dec 4. Review.

20.

Performance and cost efficiency of KRAS mutation testing for metastatic colorectal cancer in routine diagnosis: the MOKAECM study, a nationwide experience.

Blons H, Rouleau E, Charrier N, Chatellier G, Côté JF, Pages JC, de Fraipont F, Boyer JC, Merlio JP, Morel A, Gorisse MC, de Cremoux P, Leroy K, Milano G, Ouafik L, Merlin JL, Le Corre D, Aucouturier P, Sabourin JC, Nowak F, Frebourg T, Emile JF, Durand-Zaleski I, Laurent-Puig P; MOKAECM Collaborative Group..

PLoS One. 2013 Jul 25;8(7):e68945. doi: 10.1371/journal.pone.0068945. Print 2013.

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