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Items: 1 to 50 of 278

1.

One NF1 Mutation may Conceal Another.

Pacot L, Burin des Roziers C, Laurendeau I, Briand-Suleau A, Coustier A, Mayard T, Tlemsani C, Faivre L, Thomas Q, Rodriguez D, Blesson S, Dollfus H, Muller YG, Parfait B, Vidaud M, Gilbert-Dussardier B, Yardin C, Dauriat B, Derancourt C, Vidaud D, Pasmant E.

Genes (Basel). 2019 Aug 22;10(9). pii: E633. doi: 10.3390/genes10090633.

2.

NF1 mutations identify molecular and clinical subtypes of lung adenocarcinomas.

Tlemsani C, Pécuchet N, Gruber A, Laurendeau I, Danel C, Riquet M, Le Pimpec-Barthes F, Fabre E, Mansuet-Lupo A, Damotte D, Alifano M, Luscan A, Rousseau B, Vidaud D, Varin J, Parfait B, Bieche I, Leroy K, Laurent-Puig P, Terris B, Blons H, Vidaud M, Pasmant E.

Cancer Med. 2019 Aug;8(9):4330-4337. doi: 10.1002/cam4.2175. Epub 2019 Jun 14.

3.

Coexistence of schwannomatosis and glioblastoma in two families.

Deiller C, Van-Gils J, Zordan C, Tinat J, Loiseau H, Fabre T, Delleci C, Cohen J, Vidaud M, Parfait B, Goizet C.

Eur J Med Genet. 2019 Aug;62(8):103680. doi: 10.1016/j.ejmg.2019.103680. Epub 2019 May 22.

PMID:
31128261
4.

EZH1/2 function mostly within canonical PRC2 and exhibit proliferation-dependent redundancy that shapes mutational signatures in cancer.

Wassef M, Luscan A, Aflaki S, Zielinski D, Jansen PWTC, Baymaz HI, Battistella A, Kersouani C, Servant N, Wallace MR, Romero P, Kosmider O, Just PA, Hivelin M, Jacques S, Vincent-Salomon A, Vermeulen M, Vidaud M, Pasmant E, Margueron R.

Proc Natl Acad Sci U S A. 2019 Mar 26;116(13):6075-6080. doi: 10.1073/pnas.1814634116. Epub 2019 Mar 13.

5.

Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic options.

Tlemsani C, Leroy K, Gimenez-Roqueplo AP, Mansuet-Lupo A, Pasmant E, Larousserie F, Boudou-Rouquette P, Vidaud M, Cadranel J, Blons H, Goldwasser F, Laurent-Puig P.

J Med Genet. 2020 Feb;57(2):104-108. doi: 10.1136/jmedgenet-2018-105594. Epub 2018 Oct 23.

PMID:
30352869
6.

BRCA2 Loss-of-Function and High Sensitivity to Cisplatin-Based Chemotherapy in a Patient With a Pleomorphic Soft Tissue Sarcoma: Effect of Genomic Medicine.

Tlemsani C, Pasmant E, Boudou-Rouquette P, Bellesoeur A, Even J, Larousserie F, Reyes C, Gentien D, Alexandre J, Vidaud M, Anract P, Leroy K, Goldwasser F.

Am J Med Sci. 2018 Oct;356(4):404-407. doi: 10.1016/j.amjms.2018.04.015. Epub 2018 May 1. Review.

PMID:
30041945
7.

Humanized Mouse Model to Study Type 1 Diabetes.

Luce S, Guinoiseau S, Gadault A, Letourneur F, Blondeau B, Nitschke P, Pasmant E, Vidaud M, Lemonnier F, Boitard C.

Diabetes. 2018 Sep;67(9):1816-1829. doi: 10.2337/db18-0202. Epub 2018 Jul 2.

8.

Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.

Gruber A, Pacault M, El Khattabi LA, Vaucouleur N, Orhant L, Bienvenu T, Girodon E, Vidaud D, Leturcq F, Costa C, Letourneur F, Anselem O, Tsatsaris V, Goffinet F, Viot G, Vidaud M, Nectoux J.

Clin Chem Lab Med. 2018 Apr 25;56(5):728-738. doi: 10.1515/cclm-2017-0689.

PMID:
29613853
9.

Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.

Louvrier C, Pasmant E, Briand-Suleau A, Cohen J, Nitschké P, Nectoux J, Orhant L, Zordan C, Goizet C, Goutagny S, Lallemand D, Vidaud M, Vidaud D, Kalamarides M, Parfait B.

Neuro Oncol. 2018 Jun 18;20(7):917-929. doi: 10.1093/neuonc/noy009.

10.

Calling Chromosome Alterations, DNA Methylation Statuses, and Mutations in Tumors by Simple Targeted Next-Generation Sequencing: A Solution for Transferring Integrated Pangenomic Studies into Routine Practice?

Garinet S, Néou M, de La Villéon B, Faillot S, Sakat J, Da Fonseca JP, Jouinot A, Le Tourneau C, Kamal M, Luscap-Rondof W, Boeva V, Gaujoux S, Vidaud M, Pasmant E, Letourneur F, Bertherat J, Assié G.

J Mol Diagn. 2017 Sep;19(5):776-787. doi: 10.1016/j.jmoldx.2017.06.005.

11.

Versatile and precise gene-targeting strategies for functional studies in mammalian cell lines.

Wassef M, Luscan A, Battistella A, Le Corre S, Li H, Wallace MR, Vidaud M, Margueron R.

Methods. 2017 May 15;121-122:45-54. doi: 10.1016/j.ymeth.2017.05.003. Epub 2017 May 10. Review.

PMID:
28499832
12.

Loss of SMARCE1 expression is a specific diagnostic marker of clear cell meningioma: a comprehensive immunophenotypical and molecular analysis.

Tauziede-Espariat A, Parfait B, Besnard A, Lacombe J, Pallud J, Tazi S, Puget S, Lot G, Terris B, Cohen J, Vidaud M, Figarella-Branger D, Monnien F, Polivka M, Adle-Biassette H, Varlet P.

Brain Pathol. 2018 Jul;28(4):466-474. doi: 10.1111/bpa.12524. Epub 2017 Jun 12.

PMID:
28474749
13.

MicroRNA-based diagnostic tools for advanced fibrosis and cirrhosis in patients with chronic hepatitis B and C.

Appourchaux K, Dokmak S, Resche-Rigon M, Treton X, Lapalus M, Gattolliat CH, Porchet E, Martinot-Peignoux M, Boyer N, Vidaud M, Bedossa P, Marcellin P, Bièche I, Estrabaud E, Asselah T.

Sci Rep. 2016 Oct 12;6:34935. doi: 10.1038/srep34935.

14.

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.

Gilbert-Dussardier B, Briand-Suleau A, Laurendeau I, Bilan F, Cavé H, Verloes A, Vidaud M, Vidaud D, Pasmant E.

Orphanet J Rare Dis. 2016 Jul 22;11(1):101. doi: 10.1186/s13023-016-0479-y.

15.

CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids.

van Engen CE, Ofman R, Dijkstra IM, van Goethem TJ, Verheij E, Varin J, Vidaud M, Wanders RJ, Aubourg P, Kemp S, Barbier M.

Biochim Biophys Acta. 2016 Oct;1862(10):1861-70. doi: 10.1016/j.bbadis.2016.07.006. Epub 2016 Jul 15.

16.

SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.

Tlemsani C, Luscan A, Leulliot N, Bieth E, Afenjar A, Baujat G, Doco-Fenzy M, Goldenberg A, Lacombe D, Lambert L, Odent S, Pasche J, Sigaudy S, Buffet A, Violle-Poirsier C, Briand-Suleau A, Laurendeau I, Chin M, Saugier-Veber P, Vidaud D, Cormier-Daire V, Vidaud M, Pasmant E, Burglen L.

J Med Genet. 2016 Nov;53(11):743-751. doi: 10.1136/jmedgenet-2015-103638. Epub 2016 Jun 17.

PMID:
27317772
17.

Identification by FFPE RNA-Seq of a new recurrent inversion leading to RBM10-TFE3 fusion in renal cell carcinoma with subtle TFE3 break-apart FISH pattern.

Just PA, Letourneur F, Pouliquen C, Dome F, Audebourg A, Biquet P, Vidaud M, Terris B, Sibony M, Pasmant E.

Genes Chromosomes Cancer. 2016 Jun;55(6):541-8. doi: 10.1002/gcc.22356. Epub 2016 Apr 7.

PMID:
26998913
18.

High specificity and sensitivity of NRAS Q61R immunohistochemistry (IHC) in melanomas.

Just PA, Pouliquen C, Audebourg A, Laurent-Roussel S, Carlotti A, Dupin N, Vacher-Lavenu MC, Vidaud M, Terris B, Pasmant E.

J Am Acad Dermatol. 2016 Mar;74(3):572-3. doi: 10.1016/j.jaad.2015.11.011. No abstract available.

PMID:
26892658
19.

Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.

Varin J, Poulain L, Hivelin M, Nusbaum P, Hubas A, Laurendeau I, Lantieri L, Wolkenstein P, Vidaud M, Pasmant E, Chapuis N, Parfait B.

Oncotarget. 2016 Jun 14;7(24):35753-35767. doi: 10.18632/oncotarget.7099.

20.

Impaired PRC2 activity promotes transcriptional instability and favors breast tumorigenesis.

Wassef M, Rodilla V, Teissandier A, Zeitouni B, Gruel N, Sadacca B, Irondelle M, Charruel M, Ducos B, Michaud A, Caron M, Marangoni E, Chavrier P, Le Tourneau C, Kamal M, Pasmant E, Vidaud M, Servant N, Reyal F, Meseure D, Vincent-Salomon A, Fre S, Margueron R.

Genes Dev. 2015 Dec 15;29(24):2547-62. doi: 10.1101/gad.269522.115. Epub 2015 Dec 4.

21.

CYP46A1 inhibition, brain cholesterol accumulation and neurodegeneration pave the way for Alzheimer's disease.

Djelti F, Braudeau J, Hudry E, Dhenain M, Varin J, Bièche I, Marquer C, Chali F, Ayciriex S, Auzeil N, Alves S, Langui D, Potier MC, Laprevote O, Vidaud M, Duyckaerts C, Miles R, Aubourg P, Cartier N.

Brain. 2015 Aug;138(Pt 8):2383-98. doi: 10.1093/brain/awv166. Epub 2015 Jul 2.

PMID:
26141492
22.

Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy.

Pasmant E, Louvrier C, Luscan A, Cohen J, Laurendeau I, Vidaud M, Vidaud D, Goutagny S, Kalamarides M, Parfait B.

Neurochirurgie. 2018 Nov;64(5):335-341. doi: 10.1016/j.neuchi.2015.01.004. Epub 2015 Jun 12.

PMID:
26073919
23.

IFI35, mir-99a and HCV genotype to predict sustained virological response to pegylated-interferon plus ribavirin in chronic hepatitis C.

Estrabaud E, Appourchaux K, Bièche I, Carrat F, Lapalus M, Lada O, Martinot-Peignoux M, Boyer N, Marcellin P, Vidaud M, Asselah T.

PLoS One. 2015 Apr 6;10(4):e0121395. doi: 10.1371/journal.pone.0121395. eCollection 2015.

24.

NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

Imbard A, Pasmant E, Sabbagh A, Luscan A, Soares M, Goussard P, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanne-Chantelot C, Vidaud D, Wolkenstein P; members of the NF France Network, Parfait B.

J Hum Genet. 2015 Apr;60(4):221-4. doi: 10.1038/jhg.2015.6. Epub 2015 Jan 29.

PMID:
25631097
25.

Uveal melanoma hepatic metastases mutation spectrum analysis using targeted next-generation sequencing of 400 cancer genes.

Luscan A, Just PA, Briand A, Burin des Roziers C, Goussard P, Nitschké P, Vidaud M, Avril MF, Terris B, Pasmant E.

Br J Ophthalmol. 2015 Apr;99(4):437-9. doi: 10.1136/bjophthalmol-2014-305371. Epub 2014 Oct 31.

PMID:
25361747
26.

[PRC2 alterations in NF1-associated malignant peripheral nerve sheath tumors: schwann cells with no complex].

Luscan A, Vidaud D, Ortonne N, Wolkenstein P, Vidaud M, Pasmant E.

Med Sci (Paris). 2014 Aug-Sep;30(8-9):733-5. doi: 10.1051/medsci/20143008006. Epub 2014 Sep 1. French. No abstract available.

27.

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.

De Raedt T, Beert E, Pasmant E, Luscan A, Brems H, Ortonne N, Helin K, Hornick JL, Mautner V, Kehrer-Sawatzki H, Clapp W, Bradner J, Vidaud M, Upadhyaya M, Legius E, Cichowski K.

Nature. 2014 Oct 9;514(7521):247-51. doi: 10.1038/nature13561. Epub 2014 Aug 13.

PMID:
25119042
28.

Immunohistochemistry versus next-generation sequencing for the routine detection of BRAF V600E mutation in melanomas.

Just PA, Audebourg A, Pasmant E, Clauser E, Carlotti A, Laurent S, Avril MF, Vacher-Lavenu MC, Vidaud M, Terris B.

Hum Pathol. 2014 Sep;45(9):1983-4. doi: 10.1016/j.humpath.2014.05.017. Epub 2014 Jun 18. No abstract available.

PMID:
25074543
29.

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Pasmant E, Parfait B, Luscan A, Goussard P, Briand-Suleau A, Laurendeau I, Fouveaut C, Leroy C, Montadert A, Wolkenstein P, Vidaud M, Vidaud D.

Eur J Hum Genet. 2015 May;23(5):596-601. doi: 10.1038/ejhg.2014.145. Epub 2014 Jul 30.

30.

OTX008, a selective small-molecule inhibitor of galectin-1, downregulates cancer cell proliferation, invasion and tumour angiogenesis.

Astorgues-Xerri L, Riveiro ME, Tijeras-Raballand A, Serova M, Rabinovich GA, Bieche I, Vidaud M, de Gramont A, Martinet M, Cvitkovic E, Faivre S, Raymond E.

Eur J Cancer. 2014 Sep;50(14):2463-77. doi: 10.1016/j.ejca.2014.06.015. Epub 2014 Jul 16.

PMID:
25042151
31.

[PSA testing, biopsy and cancer and benign prostate hyperplasia in France].

Tuppin P, Samson S, Fagot-Campagna A, Lukacs B, Alla F, Allemand H, Paccaud F, Thalabard JC, Vicaut E, Vidaud M, Millat B.

Prog Urol. 2014 Jul;24(9):572-80. doi: 10.1016/j.purol.2014.03.004. Epub 2014 Apr 16. French.

PMID:
24975792
32.

Prostate cancer outcomes in France: treatments, adverse effects and two-year mortality.

Tuppin P, Samson S, Fagot-Campagna A, Lukacs B, Alla F; CNAMTS scientific board members, Paccaud F, Thalabard JC, Vicaut E, Vidaud M, Millat B.

BMC Urol. 2014 Jun 13;14:48. doi: 10.1186/1471-2490-14-48.

33.

Mutations in SETD2 cause a novel overgrowth condition.

Luscan A, Laurendeau I, Malan V, Francannet C, Odent S, Giuliano F, Lacombe D, Touraine R, Vidaud M, Pasmant E, Cormier-Daire V.

J Med Genet. 2014 Aug;51(8):512-7. doi: 10.1136/jmedgenet-2014-102402. Epub 2014 May 22.

PMID:
24852293
34.

Reduction of microRNA 122 expression in IFNL3 CT/TT carriers and during progression of fibrosis in patients with chronic hepatitis C.

Estrabaud E, Lapalus M, Broët P, Appourchaux K, De Muynck S, Lada O, Martinot-Peignoux M, Bièche I, Valla D, Bedossa P, Marcellin P, Vidaud M, Asselah T.

J Virol. 2014 Jun;88(11):6394-402. doi: 10.1128/JVI.00016-14. Epub 2014 Mar 26.

35.

The activation of the WNT signaling pathway is a Hallmark in neurofibromatosis type 1 tumorigenesis.

Luscan A, Shackleford G, Masliah-Planchon J, Laurendeau I, Ortonne N, Varin J, Lallemand F, Leroy K, Dumaine V, Hivelin M, Borderie D, De Raedt T, Valeyrie-Allanore L, Larousserie F, Terris B, Lantieri L, Vidaud M, Vidaud D, Wolkenstein P, Parfait B, Bièche I, Massaad C, Pasmant E.

Clin Cancer Res. 2014 Jan 15;20(2):358-71. doi: 10.1158/1078-0432.CCR-13-0780. Epub 2013 Nov 11.

36.

IFNL3 (IL28B) polymorphism does not predict long-term response to interferon therapy in HBeAg-positive chronic hepatitis B patients.

Zhang Q, Lapalus M, Asselah T, Laouénan C, Moucari R, Martinot-Peignoux M, Bieche I, Estrabaud E, De Muynck S, Boyer N, Bedossa P, Vidaud M, Marcellin P, Lada O.

J Viral Hepat. 2014 Jul;21(7):525-32. doi: 10.1111/jvh.12177. Epub 2013 Oct 10.

PMID:
24118626
37.

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P.

Hum Mutat. 2013 Nov;34(11):1510-8. doi: 10.1002/humu.22392. Epub 2013 Aug 26.

PMID:
23913538
38.

MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis.

Masliah-Planchon J, Pasmant E, Luscan A, Laurendeau I, Ortonne N, Hivelin M, Varin J, Valeyrie-Allanore L, Dumaine V, Lantieri L, Leroy K, Parfait B, Wolkenstein P, Vidaud M, Vidaud D, Bièche I.

BMC Genomics. 2013 Jul 13;14:473. doi: 10.1186/1471-2164-14-473.

39.

Neurofibromatosis type 1: from genotype to phenotype.

Pasmant E, Vidaud M, Vidaud D, Wolkenstein P.

J Med Genet. 2012 Aug;49(8):483-9. doi: 10.1136/jmedgenet-2012-100978. Review.

PMID:
22889851
40.

Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family.

Pasmant E, Amiel J, Rodriguez D, Vidaud M, Vidaud D, Parfait B.

Am J Med Genet A. 2012 Sep;158A(9):2290-1. doi: 10.1002/ajmg.a.35496. Epub 2012 Jul 27.

PMID:
22847776
41.

Genomics and HCV infection: progression of fibrosis and treatment response.

Estrabaud E, Vidaud M, Marcellin P, Asselah T.

J Hepatol. 2012 Nov;57(5):1110-25. doi: 10.1016/j.jhep.2012.05.016. Epub 2012 May 30. Review.

42.

Molecular profiling of pancreatic neuroendocrine tumors in sporadic and Von Hippel-Lindau patients.

Speisky D, Duces A, Bièche I, Rebours V, Hammel P, Sauvanet A, Richard S, Bedossa P, Vidaud M, Murat A, Niccoli P, Scoazec JY, Ruszniewski P, Couvelard A; GTE Group, Groupe d'Etude des Tumeurs Endocrines.

Clin Cancer Res. 2012 May 15;18(10):2838-49. doi: 10.1158/1078-0432.CCR-11-2759. Epub 2012 Mar 29.

43.

CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy.

Barbier M, Sabbagh A, Kasper E, Asheuer M, Ahouansou O, Pribill I, Forss-Petter S, Vidaud M, Berger J, Aubourg P.

PLoS One. 2012;7(1):e29872. doi: 10.1371/journal.pone.0029872. Epub 2012 Jan 12.

44.

Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.

Pasmant E, Sabbagh A, Masliah-Planchon J, Ortonne N, Laurendeau I, Melin L, Ferkal S, Hernandez L, Leroy K, Valeyrie-Allanore L, Parfait B, Vidaud D, Bièche I, Lantieri L, Wolkenstein P, Vidaud M; NF France Network.

J Natl Cancer Inst. 2011 Nov 16;103(22):1713-22. doi: 10.1093/jnci/djr416. Epub 2011 Oct 27.

PMID:
22034633
45.

First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.

Pasmant E, Goussard P, Baranes L, Laurendeau I, Quentin S, Ponsot P, Consigny Y, Farges O, Condat B, Vidaud D, Vidaud M, Chen JM, Parfait B.

Eur J Hum Genet. 2012 Mar;20(3):277-82. doi: 10.1038/ejhg.2011.186. Epub 2011 Oct 12.

46.

IL28B polymorphism is associated with treatment response in patients with genotype 4 chronic hepatitis C.

Asselah T, De Muynck S, Broët P, Masliah-Planchon J, Blanluet M, Bièche I, Lapalus M, Martinot-Peignoux M, Lada O, Estrabaud E, Zhang Q, El Ray A, Vidaud D, Ripault MP, Boyer N, Bedossa P, Valla D, Vidaud M, Marcellin P.

J Hepatol. 2012 Mar;56(3):527-32. doi: 10.1016/j.jhep.2011.09.008. Epub 2011 Sep 25.

PMID:
21951981
47.

Single agent and combination studies of pralatrexate and molecular correlates of sensitivity.

Serova M, Bieche I, Sablin MP, Pronk GJ, Vidaud M, Cvitkovic E, Faivre S, Raymond E.

Br J Cancer. 2011 Jan 18;104(2):272-80. doi: 10.1038/sj.bjc.6606063. Epub 2010 Dec 21.

48.

ANRIL, a long, noncoding RNA, is an unexpected major hotspot in GWAS.

Pasmant E, Sabbagh A, Vidaud M, Bièche I.

FASEB J. 2011 Feb;25(2):444-8. doi: 10.1096/fj.10-172452. Epub 2010 Oct 18. Review.

PMID:
20956613
49.

Bleeding in patients with Budd-Chiari syndrome.

Rautou PE, Douarin L, Denninger MH, Escolano S, Lebrec D, Moreau R, Vidaud M, Itzykson R, Moucari R, Bezeaud A, Valla D, Plessier A.

J Hepatol. 2011 Jan;54(1):56-63. doi: 10.1016/j.jhep.2010.06.019. Epub 2010 Aug 20.

PMID:
20889223
50.

Danoprevir, an HCV NS3/4A protease inhibitor, improves insulin sensitivity in patients with genotype 1 chronic hepatitis C.

Moucari R, Forestier N, Larrey D, Guyader D, Couzigou P, Benhamou Y, Voitot H, Vidaud M, Seiwert S, Bradford B, Zeuzem S, Marcellin P.

Gut. 2010 Dec;59(12):1694-8. doi: 10.1136/gut.2010.219089. Epub 2010 Sep 21.

PMID:
20861007

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