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Items: 1 to 50 of 90

1.

Skipping nonsense to maintain function: the paradigm of BRCA2 exon 12.

Meulemans L, Mesman RLS, Caputo SM, Krieger S, Guillaud-Bataille M, Caux-Moncoutier V, Léone M, Boutry-Kryza N, Sokolowska J, Révillion F, Delnatte C, Tubeuf H, Soukarieh O, Bonnet-Dorion F, Guibert V, Bronner M, Bourdon V, Lizard S, Vilquin P, Privat M, Drouet A, Grout C, Calléja FMGR, Golmard L, Vrieling H, Stoppa-Lyonnet D, Houdayer C, Frebourg T, Vreeswijk MPG, Martins A, Gaildrat P.

Cancer Res. 2020 Feb 11. pii: canres.2491.2019. doi: 10.1158/0008-5472.CAN-19-2491. [Epub ahead of print]

PMID:
32046981
2.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Leman R, Gaildrat P, Le Gac G, Ka C, Fichou Y, Audrezet MP, Caux-Moncoutier V, Caputo SM, Boutry-Kryza N, Léone M, Mazoyer S, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Rouleau E, Bressac-de Paillerets B, Wappenschmidt B, Rossing M, Muller D, Bourdon V, Revillon F, Parsons MT, Rousselin A, Davy G, Castelain G, Castéra L, Sokolowska J, Coulet F, Delnatte C, Férec C, Spurdle AB, Martins A, Krieger S, Houdayer C.

Nucleic Acids Res. 2020 Feb 20;48(3):1600-1601. doi: 10.1093/nar/gkz1212. No abstract available.

3.

Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Leman R, Gaildrat P, Gac GL, Ka C, Fichou Y, Audrezet MP, Caux-Moncoutier V, Caputo SM, Boutry-Kryza N, Léone M, Mazoyer S, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Rouleau E, Paillerets BB, Wappenschmidt B, Rossing M, Muller D, Bourdon V, Revillon F, Parsons MT, Rousselin A, Davy G, Castelain G, Castéra L, Sokolowska J, Coulet F, Delnatte C, Férec C, Spurdle AB, Martins A, Krieger S, Houdayer C.

Nucleic Acids Res. 2018 Nov 30;46(21):11656-11657. doi: 10.1093/nar/gky979. No abstract available.

4.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Leman R, Gaildrat P, Le Gac G, Ka C, Fichou Y, Audrezet MP, Caux-Moncoutier V, Caputo SM, Boutry-Kryza N, Léone M, Mazoyer S, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Rouleau E, Bressac-de Paillerets B, Wappenschmidt B, Rossing M, Muller D, Bourdon V, Revillon F, Parsons MT, Rousselin A, Davy G, Castelain G, Castéra L, Sokolowska J, Coulet F, Delnatte C, Férec C, Spurdle AB, Martins A, Krieger S, Houdayer C.

Nucleic Acids Res. 2018 Sep 6;46(15):7913-7923. doi: 10.1093/nar/gky372. Erratum in: Nucleic Acids Res. 2018 Nov 30;46(21):11656-11657. Nucleic Acids Res. 2020 Feb 20;48(3):1600-1601.

5.

Degradation of chlordecone and beta-hexachlorocyclohexane by photolysis, (photo-)fenton oxidation and ozonation.

Cruz-González G, Julcour C, Chaumat H, Bourdon V, Ramon-Portugal F, Gaspard S, Jáuregui-Haza UJ, Delmas H.

J Environ Sci Health B. 2018 Feb 1;53(2):121-125. doi: 10.1080/03601234.2017.1388682. Epub 2017 Nov 17.

PMID:
29148925
6.

GATA2 gene analysis in several forms of hematological malignancies including familial aggregations.

Hamadou WS, Mani R, Besbes S, Bourdon V, Youssef YB, Eisinger F, Mari V, Gesta P, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Noguchi T, Khélif A, Sobol H, Soua Z.

Ann Hematol. 2017 Oct;96(10):1635-1639. doi: 10.1007/s00277-017-3076-9. Epub 2017 Jul 27.

PMID:
28752392
7.

Behavior of sheep fed babassu cake (Orbygnia speciosa) as a substitution for elephant grass silage.

Neta ERDS, Alves KS, Mezzomo R, Gomes DÍ, Oliveira LRS, Carvalho FFR, Luz JB, Lacerda NG, Bourdon VDDS.

Anim Sci J. 2017 Aug;88(8):1171-1177. doi: 10.1111/asj.12744. Epub 2016 Dec 27.

PMID:
28027593
8.

ARLTS1, potential candidate gene in familial aggregation of hematological malignancies.

Hamadou WS, Besbes S, Mani R, Bourdon V, Ben Youssef Y, Achour B, Regaieg H, Eisinger F, Mari V, Gesta P, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Noguchi T, Khélif A, Sobol H, Soua Z.

Bull Cancer. 2017 Feb;104(2):123-127. doi: 10.1016/j.bulcan.2016.10.016. Epub 2016 Nov 17.

PMID:
27866680
9.

Familial hematological malignancies: new IDH2 mutation.

Hamadou WS, Bourdon V, Létard S, Brenet F, Laarif S, Besbes S, Paci A, David M, Penard-Lacronique V, Youssef YB, Laatiri MA, Eisinger F, Mari V, Gesta P, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Noguchi T, Khélif A, Salem CB, Dubreuil P, Sobol H, Soua Z.

Ann Hematol. 2016 Dec;95(12):1943-1947. Epub 2016 Sep 3.

PMID:
27591990
10.

Mutational analysis of TP53 gene in Tunisian familial hematological malignancies and sporadic acute leukemia cases.

Hamadou WS, Besbes S, Bourdon V, Youssef YB, Laatiri MA, Noguchi T, Khélif A, Sobol H, Soua Z.

Fam Cancer. 2017 Jan;16(1):153-157. doi: 10.1007/s10689-016-9931-3.

PMID:
27619989
11.

Mutational analysis of JAK2, CBL, RUNX1, and NPM1 genes in familial aggregation of hematological malignancies.

Hamadou WS, Bourdon V, Gaildrat P, Besbes S, Fabre A, Youssef YB, Regaieg H, Laatiri MA, Eisinger F, Mari V, Gesta P, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Jemni SY, Noguchi T, Khélif A, Sobol H, Soua Z.

Ann Hematol. 2016 Jun;95(7):1043-50. doi: 10.1007/s00277-016-2678-y. Epub 2016 Apr 23.

PMID:
27106701
12.

Familial hematological malignancies: ASXL1 gene investigation.

Hamadou WS, Abed RE, Besbes S, Bourdon V, Fabre A, Youssef YB, Laatiri MA, Eisinger F, Mari V, Gesta P, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Jemni SY, Noguchi T, Khélif A, Sobol H, Soua Z.

Clin Transl Oncol. 2016 Apr;18(4):385-90. doi: 10.1007/s12094-015-1379-7. Epub 2015 Aug 19.

PMID:
26286068
13.

Optimization of human mtDNA control region sequencing for forensic applications.

Bourdon V, Ng C, Harris J, Prinz M, Shapiro E.

J Forensic Sci. 2014 Jul;59(4):1057-63. doi: 10.1111/1556-4029.12426. Epub 2014 Mar 25.

PMID:
24666098
14.

About sequence quality: impact on clinical applications.

Noguchi T, Bourdon V, Sobol H.

Genet Test Mol Biomarkers. 2014 May;18(5):299-305. doi: 10.1089/gtmb.2013.0435. Epub 2014 Mar 12.

PMID:
24620857
15.

Arabidopsis Fused kinase TWO-IN-ONE dominantly inhibits male meiotic cytokinesis.

Oh SA, Bourdon V, Dickinson HG, Twell D, Park SK.

Plant Reprod. 2014 Mar;27(1):7-17. doi: 10.1007/s00497-013-0235-6. Epub 2013 Oct 22.

PMID:
24146312
16.

Functional polymorphisms in the regulatory regions of the VNN1 gene are associated with susceptibility to inflammatory bowel diseases.

Gensollen T, Bourges C, Rihet P, Rostan A, Millet V, Noguchi T, Bourdon V, Sobol H, Dubuquoy L, Bertin B, Fumery M, Desreumaux P, Colombel JF, Chamaillard M, Hebuterne X, Hofman P, Naquet P, Galland F.

Inflamm Bowel Dis. 2013 Oct;19(11):2315-25. doi: 10.1097/MIB.0b013e3182a32b03. Erratum in: Inflamm Bowel Dis. 2014 Aug;20(8):1457. Chamaillard, Mathias [added].

PMID:
23949622
17.

Prediction of BRCA1 germ-line mutation status in patients with breast cancer using histoprognosis grade, MS110, Lys27H3, vimentin, and KI67.

Hassanein M, Huiart L, Bourdon V, Rabayrol L, Geneix J, Nogues C, Peyrat JP, Gesta P, Meynard P, Dreyfus H, Petrot D, Lidereau R, Noguchi T, Eisinger F, Extra JM, Viens P, Jacquemier J, Sobol H.

Pathobiology. 2013;80(5):219-27. doi: 10.1159/000339432. Epub 2013 Apr 23.

18.

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, Bronner M, Buisson M, Coulet F, Gaildrat P, Lefol C, Léone M, Mazoyer S, Muller D, Remenieras A, Révillion F, Rouleau E, Sokolowska J, Vert JP, Lidereau R, Soubrier F, Sobol H, Sevenet N, Bressac-de Paillerets B, Hardouin A, Tosi M, Sinilnikova OM, Stoppa-Lyonnet D.

Hum Mutat. 2012 Aug;33(8):1228-38. doi: 10.1002/humu.22101. Epub 2012 May 11.

PMID:
22505045
19.

Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition.

Rouleau E, Jesson B, Briaux A, Nogues C, Chabaud V, Demange L, Sokolowska J, Coulet F, Barouk-Simonet E, Bignon YJ, Bonnet F, Bourdon V, Bronner M, Caputo S, Castera L, Delnatte C, Delvincourt C, Fournier J, Hardouin A, Muller D, Peyrat JP, Toulas C, Uhrhammer N, Vidal V, Stoppa-Lyonnet D, Bieche I, Lidereau R.

Breast Cancer Res Treat. 2012 Jun;133(3):1179-90. doi: 10.1007/s10549-012-2009-5. Epub 2012 Apr 5.

PMID:
22476849
20.

Interference of a new cyclometallated Pt compound with Cu binding to amyloid-β peptide.

Sasaki I, Bijani C, Ladeira S, Bourdon V, Faller P, Hureau C.

Dalton Trans. 2012 Jun 7;41(21):6404-7. doi: 10.1039/c2dt12177h. Epub 2012 Feb 3.

PMID:
22301852
21.

Molecular study of the perforin gene in familial hematological malignancies.

El Abed R, Bourdon V, Voskoboinik I, Omri H, Youssef YB, Laatiri MA, Huiart L, Eisinger F, Rabayrol L, Frenay M, Gesta P, Demange L, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Zaier M, Jemni SY, Noguchi T, Sobol H, Soua Z.

Hered Cancer Clin Pract. 2011 Sep 21;9(1):9. doi: 10.1186/1897-4287-9-9.

22.

First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome.

Rouleau E, Zattara H, Lefol C, Noguchi T, Briaux A, Buecher B, Bourdon V, Sobol H, Lidereau R, Olschwang S.

Clin Genet. 2011 Sep;80(3):301-3. doi: 10.1111/j.1399-0004.2011.01699.x. No abstract available.

PMID:
21815886
23.

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis.

Rousseau G, Noguchi T, Bourdon V, Sobol H, Olschwang S.

BMC Neurol. 2011 Jan 24;11:9. doi: 10.1186/1471-2377-11-9.

24.

Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.

Lagarde A, Rouleau E, Ferrari A, Noguchi T, Qiu J, Briaux A, Bourdon V, Rémy V, Gaildrat P, Adélaïde J, Birnbaum D, Lidereau R, Sobol H, Olschwang S.

J Med Genet. 2010 Oct;47(10):721-2. doi: 10.1136/jmg.2010.078964. Epub 2010 Aug 3.

25.

Arabidopsis kinesins HINKEL and TETRASPORE act redundantly to control cell plate expansion during cytokinesis in the male gametophyte.

Oh SA, Bourdon V, Das 'Pal M, Dickinson H, Twell D.

Mol Plant. 2008 Sep;1(5):794-9. doi: 10.1093/mp/ssn042. Epub 2008 Aug 13.

26.

Molecular study of CEBPA in familial hematological malignancies.

El Abed R, Bourdon V, Huiart L, Eisinger F, Khelif A, Frenay M, Gesta P, Demange L, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Noguchi T, Sauvan R, Soua Z, Sobol H.

Fam Cancer. 2009;8(4):581-4. doi: 10.1007/s10689-009-9289-x.

PMID:
19731081
27.

High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.

Preudhomme C, Renneville A, Bourdon V, Philippe N, Roche-Lestienne C, Boissel N, Dhedin N, André JM, Cornillet-Lefebvre P, Baruchel A, Mozziconacci MJ, Sobol H.

Blood. 2009 May 28;113(22):5583-7. doi: 10.1182/blood-2008-07-168260. Epub 2009 Apr 8.

PMID:
19357396
28.

Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome.

Rouleau E, Lefol C, Bourdon V, Coulet F, Noguchi T, Soubrier F, Bièche I, Olschwang S, Sobol H, Lidereau R.

Hum Mutat. 2009 Jun;30(6):867-75. doi: 10.1002/humu.20947.

PMID:
19224586
29.

Age-Dependent Cancer Risk Is Not Different in between MSH2 and MLH1 Mutation Carriers.

Olschwang S, Yu K, Lasset C, Baert-Desurmont S, Buisine MP, Wang Q, Hutter P, Rouleau E, Caron O, Bourdon V, Thomas G.

J Cancer Epidemiol. 2009;2009:791754. doi: 10.1155/2009/791754. Epub 2009 Mar 8.

30.

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooley KA, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Hofmann W, Sutter C, Niederacher D, Deissler H, Caldes T, Kämpjärvi K, Nevanlinna H, Simard J, Beesley J, Chen X; Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Neuhausen SL, Rebbeck TR, Wagner T, Lynch HT, Isaacs C, Weitzel J, Ganz PA, Daly MB, Tomlinson G, Olopade OI, Blum JL, Couch FJ, Peterlongo P, Manoukian S, Barile M, Radice P, Szabo CI, Pereira LH, Greene MH, Rennert G, Lejbkowicz F, Barnett-Griness O, Andrulis IL, Ozcelik H; OCGN, Gerdes AM, Caligo MA, Laitman Y, Kaufman B, Milgrom R, Friedman E; Swedish BRCA1 and BRCA2 study collaborators, Domchek SM, Nathanson KL, Osorio A, Llort G, Milne RL, Benítez J, Hamann U, Hogervorst FB, Manders P, Ligtenberg MJ, van den Ouweland AM; DNA-HEBON collaborators, Peock S, Cook M, Platte R, Evans DG, Eeles R, Pichert G, Chu C, Eccles D, Davidson R, Douglas F; EMBRACE, Godwin AK, Barjhoux L, Mazoyer S, Sobol H, Bourdon V, Eisinger F, Chompret A, Capoulade C, Bressac-de Paillerets B, Lenoir GM, Gauthier-Villars M, Houdayer C, Stoppa-Lyonnet D; GEMO, Chenevix-Trench G, Easton DF; CIMBA.

Am J Hum Genet. 2008 Apr;82(4):937-48. doi: 10.1016/j.ajhg.2008.02.008. Epub 2008 Mar 20.

31.

Gene dosage alterations revealed by cDNA microarray analysis in cervical cancer: identification of candidate amplified and overexpressed genes.

Narayan G, Bourdon V, Chaganti S, Arias-Pulido H, Nandula SV, Rao PH, Gissmann L, Dürst M, Schneider A, Pothuri B, Mansukhani M, Basso K, Chaganti RS, Murty VV.

Genes Chromosomes Cancer. 2007 Apr;46(4):373-84.

PMID:
17243165
32.

The contribution of germline rearrangements to the spectrum of BRCA2 mutations.

Casilli F, Tournier I, Sinilnikova OM, Coulet F, Soubrier F, Houdayer C, Hardouin A, Berthet P, Sobol H, Bourdon V, Muller D, Fricker JP, Capoulade-Metay C, Chompret A, Nogues C, Mazoyer S, Chappuis P, Maillet P, Philippe C, Lortholary A, Gesta P, Bézieau S, Toulas C, Gladieff L, Maugard CM, Provencher DM, Dugast C, Delvincourt C, Nguyen TD, Faivre L, Bonadona V, Frébourg T, Lidereau R, Stoppa-Lyonnet D, Tosi M.

J Med Genet. 2006 Sep;43(9):e49.

33.

Transcriptional program associated with IFN-alpha response of renal cell carcinoma.

Banerjee D, Chadalavada RS, Bourdon V, Korkola JE, Motzer RJ, Chaganti RS.

J Interferon Cytokine Res. 2006 Mar;26(3):156-70.

PMID:
16542138
34.

Significant contribution of germline BRCA2 rearrangements in male breast cancer families.

Tournier I, Paillerets BB, Sobol H, Stoppa-Lyonnet D, Lidereau R, Barrois M, Mazoyer S, Coulet F, Hardouin A, Chompret A, Lortholary A, Chappuis P, Bourdon V, Bonadona V, Maugard C, Gilbert B, Nogues C, Frébourg T, Tosi M.

Cancer Res. 2004 Nov 15;64(22):8143-7.

35.

Chromosome imbalances in oligodendroglial tumors detected by comparative genomic hybridization.

Bourdon V, Plessis G, Chapon F, Guarnieri J, Derlon JM, Jonveaux P.

Ann Genet. 2004 Apr-Jun;47(2):105-11.

PMID:
15183742
36.

MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.

Bourdon V, Philippe C, Martin D, Verloès A, Grandemenge A, Jonveaux P.

Mol Diagn. 2003;7(1):3-7.

PMID:
14529314
37.

TETRASPORE encodes a kinesin required for male meiotic cytokinesis in Arabidopsis.

Yang CY, Spielman M, Coles JP, Li Y, Ghelani S, Bourdon V, Brown RC, Lemmon BE, Scott RJ, Dickinson HG.

Plant J. 2003 Apr;34(2):229-40.

38.

Genomic and expression analysis of the 12p11-p12 amplicon using EST arrays identifies two novel amplified and overexpressed genes.

Bourdon V, Naef F, Rao PH, Reuter V, Mok SC, Bosl GJ, Koul S, Murty VV, Kucherlapati RS, Chaganti RS.

Cancer Res. 2002 Nov 1;62(21):6218-23.

39.

Spectrum of MECP2 mutations in Rett syndrome.

Bienvenu T, Villard L, De Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J; French Consortium for MECP2 Gene Analysis.

Genet Test. 2002 Spring;6(1):1-6.

PMID:
12180070
40.

T-cell immune constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome.

Bensoussan D, Le Deist F, Latger-Cannard V, Grégoire MJ, Avinens O, Feugier P, Bourdon V, André-Botté C, Schmitt C, Jonveaux P, Eliaou JF, Stoltz JF, Bordigoni P.

Br J Haematol. 2002 Jun;117(4):899-906.

PMID:
12060129
41.

Is hypocomplementemia useful for diagnosing or predicting extra-articular manifestations in patients with rheumatoid arthritis?

Saraux A, Bourdon V, Devauchelle V, Le Goff P.

Joint Bone Spine. 2001 Dec;68(6):487-92.

PMID:
11808985
42.

Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.

Bourdon V, Philippe C, Bienvenu T, Koenig B, Tardieu M, Chelly J, Jonveaux P.

J Med Genet. 2001 Dec;38(12):867-71. No abstract available.

43.

Deletion screening by fluorescence in situ hybridization in Rett syndrome patients.

Bourdon V, Philippe C, Grandemenge A, Reichwald K, Jonveaux P.

Ann Genet. 2001 Oct-Dec;44(4):191-4.

PMID:
11755104
44.

Introns and their positions affect the translational activity of mRNA in plant cells.

Bourdon V, Harvey A, Lonsdale DM.

EMBO Rep. 2001 May;2(5):394-8.

45.

A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.

Bourdon V, Philippe C, Labrune O, Amsallem D, Arnould C, Jonveaux P.

Hum Genet. 2001 Jan;108(1):43-50.

PMID:
11214906
46.

The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor alpha in acute promyelocytic-like leukaemia.

Arnould C, Philippe C, Bourdon V, Gr goire MJ, Berger R, Jonveaux P.

Hum Mol Genet. 1999 Sep;8(9):1741-9.

PMID:
10441338
47.

Insulin sensitivity, clearance and release in kininogen-deficient rats.

Damas J, Bourdon V, Lefebvre PJ.

Exp Physiol. 1999 May;84(3):549-57.

PMID:
10362853
48.
49.

Ultrastructural and biochemical evidence for gap junction and connexin 43 expression in a clonal Sertoli cell line: a potential model in the study of junctional complex formation.

Lablack A, Bourdon V, Defamie N, Batias C, Mesnil M, Fenichel P, Pointis G, Segretain D.

Cell Tissue Res. 1998 Nov;294(2):279-87.

PMID:
9799444
50.

Arabidopsis mutants impaired in cosuppression.

Elmayan T, Balzergue S, Béon F, Bourdon V, Daubremet J, Guénet Y, Mourrain P, Palauqui JC, Vernhettes S, Vialle T, Wostrikoff K, Vaucheret H.

Plant Cell. 1998 Oct;10(10):1747-58.

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