Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 36

1.

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.

Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw CN, Cheung M, Turunen JA, Repo P, Järvinen RS, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O'Shea SJ, Newton-Bishop J, Adlard J, Adams DJ, Lane AM, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S, Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern MH, Paillerets BB, Abdel-Rahman MH, Hayward NK.

J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171. Review.

2.

Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.

Leclerc J, Flament C, Lovecchio T, Delattre L, Ait Yahya E, Baert-Desurmont S, Burnichon N, Bronner M, Cabaret O, Lejeune S, Guimbaud R, Morin G, Mauillon J, Jonveaux P, Laurent-Puig P, Frébourg T, Porchet N, Buisine MP.

Genet Med. 2018 Dec;20(12):1589-1599. doi: 10.1038/gim.2018.47. Epub 2018 Apr 12.

PMID:
29790873
3.

Fungal and Bacterial Diversity of Airway Microbiota in Adults with Cystic Fibrosis: Concordance Between Conventional Methods and Ultra-Deep Sequencing, and Their Practical use in the Clinical Laboratory.

Botterel F, Angebault C, Cabaret O, Stressmann FA, Costa JM, Wallet F, Wallaert B, Bruce K, Delhaes L.

Mycopathologia. 2018 Feb;183(1):171-183. doi: 10.1007/s11046-017-0185-x. Epub 2017 Aug 1.

PMID:
28766039
4.

Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.

Jouenne F, Chauvot de Beauchene I, Bollaert E, Avril MF, Caron O, Ingster O, Lecesne A, Benusiglio P, Terrier P, Caumette V, Pissaloux D, de la Fouchardière A, Cabaret O, N'Diaye B, Velghe A, Bougeard G, Mann GJ, Koscielny S, Barrett JH, Harland M, Newton-Bishop J, Gruis N, Van Doorn R, Gauthier-Villars M, Pierron G, Stoppa-Lyonnet D, Coupier I, Guimbaud R, Delnatte C, Scoazec JY, Eggermont AM, Feunteun J, Tchertanov L, Demoulin JB, Frebourg T, Bressac-de Paillerets B.

J Med Genet. 2017 Sep;54(9):607-612. doi: 10.1136/jmedgenet-2016-104402. Epub 2017 Jun 7.

5.

Occurrence of BAP1 germline mutations in cutaneous melanocytic tumors with loss of BAP1-expression: A pilot study.

Cabaret O, Perron E, Bressac-de Paillerets B, Soufir N, de la Fouchardière A.

Genes Chromosomes Cancer. 2017 Sep;56(9):691-694. doi: 10.1002/gcc.22473. Epub 2017 Jun 23.

PMID:
28560743
6.

Complete Penetrance and Absence of Intrafamilial Variability in a Large Family with Hereditary Leiomyomatosis and Renal Cell Carcinoma.

Guinard E, Legendre L, Kramkimel N, Avril MF, Chassaing N, Cabaret O, Guillaud-Bataille M, Mazereeuw Hautier J.

Dermatology. 2016;232(3):293-7. doi: 10.1159/000445430. Epub 2016 May 5.

PMID:
27161211
7.

Concomitant presence of Aspergillus fumigatus and Stenotrophomonas maltophilia in the respiratory tract: a new risk for patients with liver disease?

Cabaret O, Bonnal C, Canoui-Poitrine F, Emirian A, Bizouard G, Levesque E, Maitre B, Fihman V, Decousser JW, Botterel F.

J Med Microbiol. 2016 May;65(5):414-419. doi: 10.1099/jmm.0.000233. Epub 2016 Feb 12.

8.

The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma.

Andreotti V, Bisio A, Bressac-de Paillerets B, Harland M, Cabaret O, Newton-Bishop J, Pastorino L, Bruno W, Bertorelli R, De Sanctis V, Provenzani A, Menin C, Fronza G, Queirolo P, Spitale RC, Bianchi-Scarrà G, Inga A, Ghiorzo P.

Pigment Cell Melanoma Res. 2016 Mar;29(2):210-21. doi: 10.1111/pcmr.12444. Epub 2015 Dec 17.

PMID:
26581427
9.

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

Lavoine N, Colas C, Muleris M, Bodo S, Duval A, Entz-Werle N, Coulet F, Cabaret O, Andreiuolo F, Charpy C, Sebille G, Wang Q, Lejeune S, Buisine MP, Leroux D, Couillault G, Leverger G, Fricker JP, Guimbaud R, Mathieu-Dramard M, Jedraszak G, Cohen-Hagenauer O, Guerrini-Rousseau L, Bourdeaut F, Grill J, Caron O, Baert-Dusermont S, Tinat J, Bougeard G, Frébourg T, Brugières L.

J Med Genet. 2015 Nov;52(11):770-8. doi: 10.1136/jmedgenet-2015-103299. Epub 2015 Aug 28. Review.

PMID:
26318770
10.

High diversity of non-sporulating moulds in respiratory specimens of immunocompromised patients: should all the species be reported when diagnosing invasive aspergillosis?

Garcia-Hermoso D, Alanio A, Cabaret O, Olivi M, Foulet F, Cordonnier C, Costa JM, Bretagne S.

Mycoses. 2015 Sep;58(9):557-64. doi: 10.1111/myc.12356. Epub 2015 Jul 27.

PMID:
26214496
11.

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.

Bodo S, Colas C, Buhard O, Collura A, Tinat J, Lavoine N, Guilloux A, Chalastanis A, Lafitte P, Coulet F, Buisine MP, Ilencikova D, Ruiz-Ponte C, Kinzel M, Grandjouan S, Brems H, Lejeune S, Blanché H, Wang Q, Caron O, Cabaret O, Svrcek M, Vidaud D, Parfait B, Verloes A, Knappe UJ, Soubrier F, Mortemousque I, Leis A, Auclair-Perrossier J, Frébourg T, Fléjou JF, Entz-Werle N, Leclerc J, Malka D, Cohen-Haguenauer O, Goldberg Y, Gerdes AM, Fedhila F, Mathieu-Dramard M, Hamelin R, Wafaa B, Gauthier-Villars M, Bourdeaut F, Sheridan E, Vasen H, Brugières L, Wimmer K, Muleris M, Duval A; European Consortium “Care for CMMRD”.

Gastroenterology. 2015 Oct;149(4):1017-29.e3. doi: 10.1053/j.gastro.2015.06.013. Epub 2015 Jun 25.

PMID:
26116798
12.

Correlation Between Pneumocystis jirovecii Mitochondrial Genotypes and High and Low Fungal Loads Assessed by Single Nucleotide Primer Extension Assay and Quantitative Real-Time PCR.

Alanio A, Olivi M, Cabaret O, Foulet F, Bellanger AP, Millon L, Berceanu A, Cordonnier C, Costa JM, Bretagne S.

J Eukaryot Microbiol. 2015 Sep-Oct;62(5):650-6. doi: 10.1111/jeu.12222. Epub 2015 May 27.

PMID:
25940946
13.

Primary leptomeningeal melanoma is part of the BAP1-related cancer syndrome.

de la Fouchardière A, Cabaret O, Pètre J, Aydin S, Leroy A, de Potter P, Pissaloux D, Haddad V, Bressac-de Paillerets B, Janin N.

Acta Neuropathol. 2015 Jun;129(6):921-3. doi: 10.1007/s00401-015-1423-2. Epub 2015 Apr 22. No abstract available.

PMID:
25900292
14.

[Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma].

Avril MF, Bahadoran P, Cabaret O, Caron O, de la Fouchardière A, Demenais F, Desjardins L, Frébourg T, Hammel P, Leccia MT, Lesueur F, Mahé E, Martin L, Maubec E, Remenieras A, Richard S, Robert C, Soufir N, Stoppa-Lyonnet D, Thomas L, Vabres P, Bressac-de Paillerets B.

Ann Dermatol Venereol. 2015 Jan;142(1):26-36. doi: 10.1016/j.annder.2014.09.606. Epub 2014 Nov 14. French.

PMID:
25600792
15.

Germline BAP1 mutations predispose also to multiple basal cell carcinomas.

de la Fouchardière A, Cabaret O, Savin L, Combemale P, Schvartz H, Penet C, Bonadona V, Soufir N, Bressac-de Paillerets B.

Clin Genet. 2015 Sep;88(3):273-7. doi: 10.1111/cge.12472. Epub 2014 Sep 8.

PMID:
25080371
16.

Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D).

Vasen HF, Ghorbanoghli Z, Bourdeaut F, Cabaret O, Caron O, Duval A, Entz-Werle N, Goldberg Y, Ilencikova D, Kratz CP, Lavoine N, Loeffen J, Menko FH, Muleris M, Sebille G, Colas C, Burkhardt B, Brugieres L, Wimmer K; EU-Consortium Care for CMMR-D (C4CMMR-D).

J Med Genet. 2014 May;51(5):283-93. doi: 10.1136/jmedgenet-2013-102238. Epub 2014 Feb 20.

PMID:
24556086
17.

Performance of serum biomarkers for the early detection of invasive aspergillosis in febrile, neutropenic patients: a multi-state model.

Schwarzinger M, Sagaon-Teyssier L, Cabaret O, Bretagne S, Cordonnier C; PREVERT Investigators.

PLoS One. 2013 Jun 14;8(6):e65776. doi: 10.1371/journal.pone.0065776. Print 2013.

18.

Metabolic detoxification pathways for 5-methoxy-sterigmatocystin in primary tracheal epithelial cells.

Cabaret O, Puel O, Botterel F, Delaforge M, Bretagne S.

Xenobiotica. 2014 Jan;44(1):1-9. doi: 10.3109/00498254.2013.804635. Epub 2013 Jun 11.

PMID:
23756242
19.

Germline BAP1 mutations predispose to renal cell carcinomas.

Popova T, Hebert L, Jacquemin V, Gad S, Caux-Moncoutier V, Dubois-d'Enghien C, Richaudeau B, Renaudin X, Sellers J, Nicolas A, Sastre-Garau X, Desjardins L, Gyapay G, Raynal V, Sinilnikova OM, Andrieu N, Manié E, de Pauw A, Gesta P, Bonadona V, Maugard CM, Penet C, Avril MF, Barillot E, Cabaret O, Delattre O, Richard S, Caron O, Benfodda M, Hu HH, Soufir N, Bressac-de Paillerets B, Stoppa-Lyonnet D, Stern MH.

Am J Hum Genet. 2013 Jun 6;92(6):974-80. doi: 10.1016/j.ajhg.2013.04.012. Epub 2013 May 16.

20.

Aerosolized liposomal amphotericin B: prediction of lung deposition, in vitro uptake and cytotoxicity.

Fauvel M, Farrugia C, Tsapis N, Gueutin C, Cabaret O, Bories C, Bretagne S, Barratt G.

Int J Pharm. 2012 Oct 15;436(1-2):106-10. doi: 10.1016/j.ijpharm.2012.07.012. Epub 2012 Jul 17.

PMID:
22814222
21.

Azole preexposure affects the Aspergillus fumigatus population in patients.

Alanio A, Cabaret O, Sitterlé E, Costa JM, Brisse S, Cordonnier C, Bretagne S.

Antimicrob Agents Chemother. 2012 Sep;56(9):4948-50. doi: 10.1128/AAC.05990-11. Epub 2012 Jun 18.

22.

Association between circulating DNA, serum (1->3)-β-D-glucan, and pulmonary fungal burden in Pneumocystis pneumonia.

Costa JM, Botterel F, Cabaret O, Foulet F, Cordonnier C, Bretagne S.

Clin Infect Dis. 2012 Jul;55(2):e5-8. doi: 10.1093/cid/cis412. Epub 2012 Apr 20.

PMID:
22523258
23.

Temporal similarity between Candida albicans genotypes in a Tunisian neonatal intensive care unit suggests several nosocomial cross-contamination episodes.

Ben Abdeljelil J, Saghrouni F, Cabaret O, Boukadida J, Bretagne S, Ben Saïd M.

DNA Cell Biol. 2012 Jul;31(7):1161-6. doi: 10.1089/dna.2011.1593. Epub 2012 Feb 15.

PMID:
22335233
24.

Clinical significance of quantifying Pneumocystis jirovecii DNA by using real-time PCR in bronchoalveolar lavage fluid from immunocompromised patients.

Botterel F, Cabaret O, Foulet F, Cordonnier C, Costa JM, Bretagne S.

J Clin Microbiol. 2012 Feb;50(2):227-31. doi: 10.1128/JCM.06036-11. Epub 2011 Dec 7.

25.

Contribution of uniformly 13C-enriched sterigmatocystin to the study of its pulmonary metabolism.

Cabaret O, Puel O, Botterel F, Pean M, Bretagne S, Delaforge M.

Rapid Commun Mass Spectrom. 2011 Oct 15;25(19):2704-10. doi: 10.1002/rcm.5068.

PMID:
21913247
26.

Trichophyton bullosum: a new zoonotic dermatophyte species.

Sitterle E, Frealle E, Foulet F, Cabaret O, Cremer G, Guillot J, Delhaes L, Botterel F.

Med Mycol. 2012 Apr;50(3):305-9. doi: 10.3109/13693786.2011.605810. Epub 2011 Sep 12.

PMID:
21905949
27.

Genotyping of the protozoan pathogen Toxoplasma gondii using high-resolution melting analysis of the repeated B1 gene.

Costa JM, Cabaret O, Moukoury S, Bretagne S.

J Microbiol Methods. 2011 Sep;86(3):357-63. doi: 10.1016/j.mimet.2011.06.017. Epub 2011 Jul 1.

PMID:
21741999
28.

Cytochrome b gene quantitative PCR for diagnosing Plasmodium falciparum infection in travelers.

Farrugia C, Cabaret O, Botterel F, Bories C, Foulet F, Costa JM, Bretagne S.

J Clin Microbiol. 2011 Jun;49(6):2191-5. doi: 10.1128/JCM.02156-10. Epub 2011 Apr 20.

29.

Molecular survey of rodent-borne Trypanosoma in Niger with special emphasis on T. lewisi imported by invasive black rats.

Dobigny G, Poirier P, Hima K, Cabaret O, Gauthier P, Tatard C, Costa JM, Bretagne S.

Acta Trop. 2011 Mar;117(3):183-8. doi: 10.1016/j.actatropica.2010.11.004. Epub 2010 Nov 30.

PMID:
21126503
30.

Effect of NFE2L2 genetic polymorphism on the association between oral estrogen therapy and the risk of venous thromboembolism in postmenopausal women.

Bouligand J, Cabaret O, Canonico M, Verstuyft C, Dubert L, Becquemont L, Guiochon-Mantel A, Scarabin PY; Estrogen and Thromboembolism Risk (ESTHER) Study Group.

Clin Pharmacol Ther. 2011 Jan;89(1):60-4. doi: 10.1038/clpt.2010.241. Epub 2010 Nov 24.

PMID:
21107315
31.

Degradation of fungal DNA in formalin-fixed paraffin-embedded sinus fungal balls hampers reliable sequence-based identification of fungi.

Cabaret O, Toussain G, Abermil N, Alsamad IA, Botterel F, Costa JM, Papon JF, Bretagne S.

Med Mycol. 2011 Apr;49(3):329-32. doi: 10.3109/13693786.2010.525537. Epub 2010 Oct 18.

PMID:
20950222
32.

Metabolic detoxication pathways for sterigmatocystin in primary tracheal epithelial cells.

Cabaret O, Puel O, Botterel F, Pean M, Khoufache K, Costa JM, Delaforge M, Bretagne S.

Chem Res Toxicol. 2010 Nov 15;23(11):1673-81. doi: 10.1021/tx100127b. Epub 2010 Oct 7.

PMID:
20929267
33.

Primary in vitro culture of porcine tracheal epithelial cells in an air-liquid interface as a model to study airway epithelium and Aspergillus fumigatus interactions.

Khoufache K, Cabaret O, Farrugia C, Rivollet D, Alliot A, Allaire E, Cordonnier C, Bretagne S, Botterel F.

Med Mycol. 2010 Dec;48(8):1049-55. doi: 10.3109/13693786.2010.496119. Epub 2010 Jul 7.

PMID:
20608777
34.

Genotyping of Candida albicans using length fragment and high-resolution melting analyses together with minisequencing of a polymorphic microsatellite locus.

Costa JM, Garcia-Hermoso D, Olivi M, Cabaret O, Farrugia C, Lecellier G, Dromer F, Bretagne S.

J Microbiol Methods. 2010 Mar;80(3):306-9. doi: 10.1016/j.mimet.2010.01.002. Epub 2010 Jan 21.

PMID:
20096312
35.

Two unusual occurrences of trichomoniasis: rapid species identification by PCR.

Bellanger AP, Cabaret O, Costa JM, Foulet F, Bretagne S, Botterel F.

J Clin Microbiol. 2008 Sep;46(9):3159-61. doi: 10.1128/JCM.00322-08. Epub 2008 Jul 16.

36.

Comparison of microsatellite length polymorphism and multilocus sequence typing for DNA-Based typing of Candida albicans.

Garcia-Hermoso D, Cabaret O, Lecellier G, Desnos-Ollivier M, Hoinard D, Raoux D, Costa JM, Dromer F, Bretagne S.

J Clin Microbiol. 2007 Dec;45(12):3958-63. Epub 2007 Oct 10.

Supplemental Content

Loading ...
Support Center