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Items: 1 to 20 of 46

1.

Telomerase activation and ATRX mutations are independent risk factors for metastatic pheochromocytoma and paraganglioma.

Job S, Draskovic I, Burnichon N, Buffet A, Cros J, Lépine C, Venisse A, Robidel E, Verkarre V, Meatchi T, Sibony M, Amar L, Bertherat J, de Reyniès A, Londoño-Vallejo A, Favier J, Castro-Vega LJ, Gimenez-Roqueplo AP.

Clin Cancer Res. 2018 Oct 9. pii: clincanres.0139.2018. doi: 10.1158/1078-0432.CCR-18-0139. [Epub ahead of print]

PMID:
30301828
2.

Pheochromocytoma: When to search a germline defect?

Buffet A, Burnichon N, Amar L, Gimenez-Roqueplo AP.

Presse Med. 2018 Jul - Aug;47(7-8 Pt 2):e109-e118. doi: 10.1016/j.lpm.2018.07.003. Epub 2018 Aug 9. Review.

PMID:
30100270
3.

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations.

Pujol P, Vande Perre P, Faivre L, Sanlaville D, Corsini C, Baertschi B, Anahory M, Vaur D, Olschwang S, Soufir N, Bastide N, Amar S, Vintraud M, Ingster O, Richard S, Le Coz P, Spano JP, Caron O, Hammel P, Luporsi E, Toledano A, Rebillard X, Cambon-Thomsen A, Putois O, Rey JM, Hervé C, Zorn C, Baudry K, Galibert V, Gligorov J, Azria D, Bressac-de Paillerets B, Burnichon N, Spielmann M, Zarca D, Coupier I, Cussenot O, Gimenez-Roqueplo AP, Giraud S, Lapointe AS, Niccoli P, Raingeard I, Le Bidan M, Frebourg T, Rafii A, Geneviève D.

Eur J Hum Genet. 2018 Aug 8. doi: 10.1038/s41431-018-0224-1. [Epub ahead of print]

PMID:
30089825
4.

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

Lenglet M, Robriquet F, Schwarz K, Camps C, Couturier A, Hoogewijs D, Buffet A, Knight SJL, Gad S, Couvé S, Chesnel F, Pacault M, Lindenbaum P, Job S, Dumont S, Besnard T, Cornec M, Dreau H, Pentony M, Kvikstad E, Deveaux S, Burnichon N, Ferlicot S, Vilaine M, Mazzella JM, Airaud F, Garrec C, Heidet L, Irtan S, Mantadakis E, Bouchireb K, Debatin KM, Redon R, Bezieau S, Bressac-de Paillerets B, Teh BT, Girodon F, Randi ML, Putti MC, Bours V, Van Wijk R, Göthert JR, Kattamis A, Janin N, Bento C, Taylor JC, Arlot-Bonnemains Y, Richard S, Gimenez-Roqueplo AP, Cario H, Gardie B.

Blood. 2018 Aug 2;132(5):469-483. doi: 10.1182/blood-2018-03-838235. Epub 2018 Jun 11.

PMID:
29891534
5.

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 Apr 12. doi: 10.1038/gim.2018.47. [Epub ahead of print]

PMID:
29790873
6.

Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas.

Buffet A, Morin A, Castro-Vega LJ, Habarou F, Lussey-Lepoutre C, Letouzé E, Lefebvre H, Guilhem I, Haissaguerre M, Raingeard I, Padilla-Girola M, Tran T, Tchara L, Bertherat J, Amar L, Ottolenghi C, Burnichon N, Gimenez-Roqueplo AP, Favier J.

Cancer Res. 2018 Apr 15;78(8):1914-1922. doi: 10.1158/0008-5472.CAN-17-2463. Epub 2018 Feb 5.

PMID:
29431636
7.

Long-Term Control of Hypercortisolism by Vandetanib in a Case of Medullary Thyroid Carcinoma with a Somatic RET Mutation.

Paepegaey AC, Cochand-Priollet B, Louiset E, Sarfati PO, Alifano M, Burnichon N, Bienvenu-Perrard M, Lahlou N, Bricaire L, Groussin L.

Thyroid. 2017 Apr;27(4):587-590. doi: 10.1089/thy.2016.0334. Epub 2017 Mar 13.

PMID:
28068878
8.

Successful response to pegylated interferon alpha in a patient with recurrent paraganglioma.

Bahougne T, Imperiale A, Averous G, Chabrier G, Burnichon N, Gimenez-Roqueplo AP, Dali-Youcef N, Libe R, Baudin E, Roy C, Lang H, Kessler L.

Endocr Relat Cancer. 2017 Feb;24(2):L7-L11. doi: 10.1530/ERC-16-0431. Epub 2016 Nov 28. No abstract available.

PMID:
27895137
9.

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.

NGS in PPGL (NGSnPPGL) Study Group, Toledo RA, Burnichon N, Cascon A, Benn DE, Bayley JP, Welander J, Tops CM, Firth H, Dwight T, Ercolino T, Mannelli M, Opocher G, Clifton-Bligh R, Gimm O, Maher ER, Robledo M, Gimenez-Roqueplo AP, Dahia PL.

Nat Rev Endocrinol. 2017 Apr;13(4):233-247. doi: 10.1038/nrendo.2016.185. Epub 2016 Nov 18. Review.

10.

Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma.

Burnichon N, Mazzella JM, Drui D, Amar L, Bertherat J, Coupier I, Delemer B, Guilhem I, Herman P, Kerlan V, Tabarin A, Wion N, Lahlou-Laforet K, Favier J, Gimenez-Roqueplo AP.

J Med Genet. 2017 Feb;54(2):125-133. doi: 10.1136/jmedgenet-2016-104297. Epub 2016 Nov 17.

PMID:
27856506
11.

Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1.

Moramarco J, El Ghorayeb N, Dumas N, Nolet S, Boulanger L, Burnichon N, Lacroix A, Elhaffaf Z, Gimenez Roqueplo AP, Hamet P, Bourdeau I.

Clin Endocrinol (Oxf). 2017 Mar;86(3):332-339. doi: 10.1111/cen.13265. Epub 2016 Dec 5.

PMID:
27787920
12.

A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL.

Bourdeau I, Grunenwald S, Burnichon N, Khalifa E, Dumas N, Binet MC, Nolet S, Gimenez-Roqueplo AP.

J Clin Endocrinol Metab. 2016 Dec;101(12):4710-4718. Epub 2016 Oct 4.

13.

The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.

Castro-Vega LJ, Kiando SR, Burnichon N, Buffet A, Amar L, Simian C, Berdelou A, Galan P, Schlumberger M, Bouatia-Naji N, Favier J, Bressac-de Paillerets B, Gimenez-Roqueplo AP.

J Clin Endocrinol Metab. 2016 Dec;101(12):4764-4768. Epub 2016 Sep 28.

PMID:
27680874
14.

Pheochromocytoma and paraganglioma: molecular testing and personalized medicine.

Burnichon N, Buffet A, Gimenez-Roqueplo AP.

Curr Opin Oncol. 2016 Jan;28(1):5-10. doi: 10.1097/CCO.0000000000000249. Review.

15.

In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma.

Lussey-Lepoutre C, Bellucci A, Morin A, Buffet A, Amar L, Janin M, Ottolenghi C, Zinzindohoué F, Autret G, Burnichon N, Robidel E, Banting B, Fontaine S, Cuenod CA, Benit P, Rustin P, Halimi P, Fournier L, Gimenez-Roqueplo AP, Favier J, Tavitian B.

Clin Cancer Res. 2016 Mar 1;22(5):1120-9. doi: 10.1158/1078-0432.CCR-15-1576. Epub 2015 Oct 21.

16.

Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.

Castro-Vega LJ, Letouzé E, Burnichon N, Buffet A, Disderot PH, Khalifa E, Loriot C, Elarouci N, Morin A, Menara M, Lepoutre-Lussey C, Badoual C, Sibony M, Dousset B, Libé R, Zinzindohoue F, Plouin PF, Bertherat J, Amar L, de Reyniès A, Favier J, Gimenez-Roqueplo AP.

Nat Commun. 2015 Jan 27;6:6044. doi: 10.1038/ncomms7044.

17.

Unsuspected task for an old team: succinate, fumarate and other Krebs cycle acids in metabolic remodeling.

Bénit P, Letouzé E, Rak M, Aubry L, Burnichon N, Favier J, Gimenez-Roqueplo AP, Rustin P.

Biochim Biophys Acta. 2014 Aug;1837(8):1330-7. doi: 10.1016/j.bbabio.2014.03.013. Epub 2014 Mar 31. Review.

18.

SDH mutations establish a hypermethylator phenotype in paraganglioma.

Letouzé E, Martinelli C, Loriot C, Burnichon N, Abermil N, Ottolenghi C, Janin M, Menara M, Nguyen AT, Benit P, Buffet A, Marcaillou C, Bertherat J, Amar L, Rustin P, De Reyniès A, Gimenez-Roqueplo AP, Favier J.

Cancer Cell. 2013 Jun 10;23(6):739-52. doi: 10.1016/j.ccr.2013.04.018. Epub 2013 May 23.

19.

The genetics of paragangliomas.

Burnichon N, Abermil N, Buffet A, Favier J, Gimenez-Roqueplo AP.

Eur Ann Otorhinolaryngol Head Neck Dis. 2012 Dec;129(6):315-8. doi: 10.1016/j.anorl.2012.04.007. Epub 2012 Oct 15. Review.

20.

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.

Burnichon N, Buffet A, Parfait B, Letouzé E, Laurendeau I, Loriot C, Pasmant E, Abermil N, Valeyrie-Allanore L, Bertherat J, Amar L, Vidaud D, Favier J, Gimenez-Roqueplo AP.

Hum Mol Genet. 2012 Dec 15;21(26):5397-405. doi: 10.1093/hmg/dds374. Epub 2012 Sep 6.

PMID:
22962301

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