| Year |
Citation |
Score |
| 2024 |
Mancini M, Buffet A, Porte B, Amar L, Lussey-Lepoutre C, Crinière L, Baudin E, Meatchi T, Gimenez-Roqueplo AP, Favier J, Burnichon N. EPAS1-mutated paragangliomas associated with haemoglobin disorders. British Journal of Haematology. PMID 38195958 DOI: 10.1111/bjh.19278 |
0.651 |
|
| 2023 |
Mougel G, Mohamed A, Burnichon N, Giraud S, Pigny P, Bressac-de Paillerets B, Mirebeau-Prunier D, Buffet A, Savagner F, Romanet P, Arlot Y, Gardie B, Gimenez-Roqueplo AP, Beroud C, Richard S, et al. Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries. Journal of Medical Genetics. PMID 37979962 DOI: 10.1136/jmg-2023-109550 |
0.659 |
|
| 2023 |
Karaghiannis V, Maric D, Garrec C, Maaziz N, Buffet A, Schmitt L, Antunes V, Airaud F, Aral B, Le Roy A, Corbineau S, Mansour-Hendili L, Lesieur V, Rimbert A, Laporte F, ... ... Burnichon N, et al. Comprehensive and functional studies for classification of genetic variants identified in patients with erythrocytosis. Haematologica. PMID 36700397 DOI: 10.3324/haematol.2022.281698 |
0.693 |
|
| 2022 |
Branzoli F, Salgues B, Marjańska M, Laloi-Michelin M, Herman P, Le Collen L, Delemer B, Riancho J, Kuhn E, Jublanc C, Burnichon N, Amar L, Favier J, Gimenez-Roqueplo AP, Buffet A, et al. SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link? Endocrine-Related Cancer. PMID 36449569 DOI: 10.1530/ERC-22-0198 |
0.642 |
|
| 2022 |
Vibert R, Lahlou-Laforêt K, Samadi M, Krivosic V, Blanc T, Amar L, Burnichon N, Abadie C, Richard S, Gimenez-Roqueplo AP. Minors at risk of von Hippel-Lindau disease: 10 years' experience of predictive genetic testing and follow-up adherence. European Journal of Human Genetics : Ejhg. PMID 35918537 DOI: 10.1038/s41431-022-01157-z |
0.514 |
|
| 2021 |
Garrett A, Loveday C, King L, Butler S, Robinson R, Horton C, Yussuf A, Choi S, Torr B, Durkie M, Burghel GJ, Drummond J, Berry I, Wallace A, Callaway A, ... ... Burnichon N, et al. Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34906457 DOI: 10.1016/j.gim.2021.08.004 |
0.613 |
|
| 2021 |
Parisien-La Salle S, Dumas N, Bédard K, Jolin J, Moramarco J, Lacroix A, Lévesque I, Burnichon N, Gimenez-Roqueplo AP, Bourdeau I. Genetic spectrum in a Canadian cohort of apparently sporadic pheochromocytomas and paragangliomas: New data on multigene panel retesting over time. Clinical Endocrinology. PMID 34750850 DOI: 10.1111/cen.14618 |
0.653 |
|
| 2021 |
Morini A, Drossart T, Timsit MO, Sibony M, Vasiliu V, Gimenez-Roqueplo AP, Favier J, Badoual C, Mejean A, Burnichon N, Verkarre V. Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1. Modern Pathology : An Official Journal of the United States and Canadian Academy of Pathology, Inc. PMID 34531523 DOI: 10.1038/s41379-021-00906-7 |
0.594 |
|
| 2021 |
Ben Aim L, Maher ER, Cascon A, Barlier A, Giraud S, Ercolino T, Pigny P, Clifton-Bligh RJ, Mirebeau-Prunier D, Mohamed A, Favier J, Gimenez-Roqueplo AP, Schiavi F, Toledo RA, Dahia PL, ... ... Burnichon N, et al. International initiative for a curated variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma. Journal of Medical Genetics. PMID 34452955 DOI: 10.1136/jmedgenet-2020-107652 |
0.571 |
|
| 2021 |
Amar L, Pacak K, Steichen O, Akker SA, Aylwin SJB, Baudin E, Buffet A, Burnichon N, Clifton-Bligh RJ, Dahia PLM, Fassnacht M, Grossman AB, Herman P, Hicks RJ, Januszewicz A, et al. International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers. Nature Reviews. Endocrinology. PMID 34021277 DOI: 10.1038/s41574-021-00492-3 |
0.663 |
|
| 2020 |
Castro-Vega LJ, Calsina B, Burnichon N, Drossart T, Martínez-Montes ÁM, Verkarre V, Amar L, Bertherat J, Rodríguez-Antona C, Favier J, Robledo M, Gimenez-Roqueplo AP. Overexpression of miR-483-5p is confined to metastases and linked to high circulating levels in patients with metastatic pheochromocytoma/paraganglioma. Clinical and Translational Medicine. 10: e260. PMID 33377638 DOI: 10.1002/ctm2.260 |
0.461 |
|
| 2020 |
Saie C, Buffet A, Abeillon J, Drui D, Leboulleux S, Bertherat J, Zenaty D, Storey C, Borson-Chazot F, Burnichon N, Vincent M, Favier J, Baudin E, Giraud S, Gimenez-Roqueplo AP, et al. Screening of a large cohort of asymptomatic SDHx mutation carriers in routine practice. The Journal of Clinical Endocrinology and Metabolism. PMID 33247927 DOI: 10.1210/clinem/dgaa888 |
0.662 |
|
| 2020 |
Armaiz-Pena G, Flores SK, Cheng ZM, Zhang X, Esquivel E, Poullard N, Vaidyanathan A, Liu Q, Michalek J, Santillan-Gomez AA, Liss M, Ahmadi S, Katselnik D, Maldonado E, Agosto Salgado S, ... ... Burnichon N, et al. Genotype-phenotype features of germline variants of the TMEM127 pheochromocytoma susceptibility gene: a ten-year update. The Journal of Clinical Endocrinology and Metabolism. PMID 33051659 DOI: 10.1210/clinem/dgaa741 |
0.601 |
|
| 2020 |
Denize T, Just PA, Sibony M, Blons H, Timsit MO, Drossart T, Jakubowicz D, Broudin C, Morini A, Molina T, Vano Y, Auvray-Kuentz M, Richard S, Mejean A, Gimenez Roqueplo AP, ... Burnichon N, et al. MET alterations in biphasic squamoid alveolar papillary renal cell carcinomas and clinicopathological features. Modern Pathology : An Official Journal of the United States and Canadian Academy of Pathology, Inc. PMID 32770124 DOI: 10.1038/S41379-020-0645-6 |
0.391 |
|
| 2020 |
Jiang J, Zhang J, Pang Y, Bechmann N, Li M, Monteagudo M, Calsina B, Gimenez-Roqueplo AP, Nölting S, Beuschlein F, Fassnacht M, Deutschbein T, Timmers HJLM, Åkerström T, Crona J, ... ... Burnichon N, et al. Sino-European differences in the genetic landscape and clinical presentation of pheochromocytoma and paraganglioma. The Journal of Clinical Endocrinology and Metabolism. PMID 32750708 DOI: 10.1210/Clinem/Dgaa502 |
0.567 |
|
| 2020 |
Flores SK, Deng Y, Cheng Z, Zhang X, Tao S, Saliba A, Chu I, Burnichon N, Gimenez-Roqueplo AP, Wang E, Aguiar RCT, Dahia PLM. Functional characterization of TMEM127 variants reveals novel insights into its membrane topology and trafficking. The Journal of Clinical Endocrinology and Metabolism. PMID 32575117 DOI: 10.1210/Clinem/Dgaa396 |
0.6 |
|
| 2020 |
Buffet A, Burnichon N, Favier J, Gimenez-Roqueplo AP. An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma. Best Practice & Research. Clinical Endocrinology & Metabolism. 101416. PMID 32295730 DOI: 10.1016/J.Beem.2020.101416 |
0.729 |
|
| 2020 |
Buffet A, Calsina B, Flores S, Giraud S, Lenglet M, Romanet P, Deflorenne E, Aller J, Bourdeau I, Bressac-de Paillerets B, Calatayud M, Dehais C, De Mones Del Pujol E, Elenkova A, Herman P, ... ... Burnichon N, et al. Germline mutations in the new E1' cryptic exon of the gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma. Journal of Medical Genetics. PMID 31996412 DOI: 10.1136/Jmedgenet-2019-106519 |
0.698 |
|
| 2020 |
Salle SP, Dumas N, Jolin J, Nolet S, Lacroix A, Lévesque I, Burnichon N, Gimenez-Roqueplo A, Bourdeau I. MON-212 Genetic Spectrum Of A Canadian Cohort Of Sporadic Pheochromocytomas And Paragangliomas: Higher Prevalence Of Germline Mutations In PGL And NGS Assay With A Multigene Panel Increases The Mutation Rate Journal of the Endocrine Society. 4. DOI: 10.1210/Jendso/Bvaa046.453 |
0.734 |
|
| 2019 |
Lussey-Lepoutre C, Bellucci A, Burnichon N, Amar L, Buffet A, Drossart T, Fontaine S, Clement O, Benit P, Rustin P, Groussin L, Meatchi T, Gimenez-Roqueplo AP, Tavitian B, Favier J. Succinate detection using in vivo H-MR spectroscopy identifies germline and somatic SDHx mutations in paragangliomas. European Journal of Nuclear Medicine and Molecular Imaging. PMID 31834447 DOI: 10.1007/S00259-019-04633-9 |
0.677 |
|
| 2019 |
Job S, Georges A, Burnichon N, Buffet A, Amar L, Bertherat J, Bouatia-Naji N, de Reyniès A, Drui D, Lussey-Lepoutre C, Favier J, Gimenez-Roqueplo AP, Castro-Vega LJ. Transcriptome analysis of lncRNAs in pheochromocytomas and paragangliomas. The Journal of Clinical Endocrinology and Metabolism. PMID 31678991 DOI: 10.1210/Clinem/Dgz168 |
0.696 |
|
| 2019 |
Cornu E, Belmihoub I, Burnichon N, Grataloup C, Zinzindohoué F, Baron S, Billaud E, Azizi M, Gimenez-Roqueplo AP, Amar L. [Phaeochromocytoma and paraganglioma]. La Revue De Medecine Interne. PMID 31493938 DOI: 10.1016/J.Revmed.2019.07.008 |
0.381 |
|
| 2019 |
Calsina B, Castro-Vega LJ, Torres-Pérez R, Inglada-Pérez L, Currás-Freixes M, Roldán-Romero JM, Mancikova V, Letón R, Remacha L, Santos M, Burnichon N, Lussey-Lepoutre C, Rapizzi E, Graña O, Álvarez-Escolá C, et al. Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma. Theranostics. 9: 4946-4958. PMID 31410193 DOI: 10.7150/Thno.35458 |
0.519 |
|
| 2019 |
Favier J, Meatchi T, Robidel E, Badoual C, Sibony M, Nguyen AT, Gimenez-Roqueplo AP, Burnichon N. Carbonic anhydrase 9 immunohistochemistry as a tool to predict or validate germline and somatic VHL mutations in pheochromocytoma and paraganglioma-a retrospective and prospective study. Modern Pathology : An Official Journal of the United States and Canadian Academy of Pathology, Inc. PMID 31383958 DOI: 10.1038/S41379-019-0343-4 |
0.705 |
|
| 2019 |
Cardot-Bauters C, Carnaille B, Aubert S, Crépin M, Boury S, Burnichon N, Pigny P. A full phenotype of paraganglioma linked to a germline SDHB mosaic mutation. The Journal of Clinical Endocrinology and Metabolism. PMID 31046099 DOI: 10.1210/Jc.2019-00175 |
0.563 |
|
| 2019 |
Ben Aim L, Pigny P, Castro-Vega LJ, Buffet A, Amar L, Bertherat J, Drui D, Guilhem I, Baudin E, Lussey-Lepoutre C, Corsini C, Chabrier G, Briet C, Faivre L, Cardot-Bauters C, ... ... Burnichon N, et al. Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma. Journal of Medical Genetics. PMID 30877234 DOI: 10.1136/Jmedgenet-2018-105714 |
0.57 |
|
| 2018 |
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, et al. Telomerase activation and ATRX mutations are independent risk factors for metastatic pheochromocytoma and paraganglioma. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. PMID 30301828 DOI: 10.1158/1078-0432.Ccr-18-0139 |
0.688 |
|
| 2018 |
Buffet A, Burnichon N, Amar L, Gimenez-Roqueplo AP. Pheochromocytoma: When to search a germline defect? Presse Medicale (Paris, France : 1983). PMID 30100270 DOI: 10.1016/J.Lpm.2018.07.003 |
0.68 |
|
| 2018 |
Pujol P, Perre PV, 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, ... ... Burnichon N, et al. Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations. European Journal of Human Genetics : Ejhg. PMID 30089825 DOI: 10.1038/S41431-018-0224-1 |
0.6 |
|
| 2018 |
Lenglet M, Robriquet F, Schwarz K, Camps C, Couturier A, Hoogewijs D, Buffet A, Knight SJ, Gad S, Couvé S, Chesnel F, Pacault M, Lindenbaum P, Job S, Dumont S, ... ... Burnichon N, et al. New lessons from an old gene: complex splicing and a novel cryptic exon in VHL gene cause erythrocytosis and VHL disease. Blood. PMID 29891534 DOI: 10.1182/Blood-2018-03-838235 |
0.711 |
|
| 2018 |
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, et al. Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29790873 DOI: 10.1038/Gim.2018.47 |
0.419 |
|
| 2018 |
Buffet A, Morin A, Castro-Vega LJ, Habarou F, Lussey-Lepoutre C, Letouzé E, Lefebvre H, Guilhem I, Magalie H, Raingeard I, Padilla-Girola M, Tran T, Tchara L, Bertherat J, Amar L, ... ... Burnichon N, et al. Germline mutations in the mitochondrial 2-oxoglutarate/malate carrier SLC25A11 gene confer a predisposition to metastatic paragangliomas. Cancer Research. PMID 29431636 DOI: 10.1158/0008-5472.Can-17-2463 |
0.768 |
|
| 2017 |
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. Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma. Journal of Medical Genetics. 54: 125-133. PMID 27856506 DOI: 10.1136/Jmedgenet-2016-104297 |
0.694 |
|
| 2017 |
Buffet A, Burnichon N, Aim LB, Favier J, Gimenez-Roqueplo AP. Épimutation SDHC : un nouveau mécanisme mutationnel à l’origine des paragangliomes et tumeurs gastro-intestinales stromales SDHx-dépendants Annales D Endocrinologie. 78: 249. DOI: 10.1016/J.Ando.2017.07.094 |
0.352 |
|
| 2016 |
Bahougne T, Imperiale A, Averous G, Chabrier G, Burnichon N, Gimenez-Roqueplo AP, Dali-Youcef N, Libé R, Baudin E, Roy C, Lang H, Kessler L. Successful response to pegylated interferon alpha in a recurrent paraganglioma. Endocrine-Related Cancer. PMID 27895137 DOI: 10.1530/Erc-16-0431 |
0.524 |
|
| 2016 |
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, et al. Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas. Nature Reviews. Endocrinology. PMID 27857127 DOI: 10.1038/Nrendo.2016.185 |
0.642 |
|
| 2016 |
Moramarco J, El Ghorayeb N, Dumas N, Nolet S, Boulanger L, Burnichon N, Lacroix A, Elhaffaf Z, Gimenez Roqueplo AP, Hamet P, Bourdeau I. Phaeochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1. Clinical Endocrinology. PMID 27787920 DOI: 10.1111/Cen.13265 |
0.302 |
|
| 2016 |
Bourdeau I, Grunenwald S, Burnichon N, Khalifa E, Dumas N, Binet MC, Nolet S, Gimenez-Roqueplo AP. A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL. The Journal of Clinical Endocrinology and Metabolism. 101: 4710-4718. PMID 27700540 DOI: 10.1210/Jc.2016-1665 |
0.736 |
|
| 2016 |
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. The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma. The Journal of Clinical Endocrinology and Metabolism. 101: 4764-4768. PMID 27680874 DOI: 10.1210/Jc.2016-2103 |
0.566 |
|
| 2016 |
Burnichon N, Buffet A, Gimenez-Roqueplo AP. Pheochromocytoma and paraganglioma: molecular testing and personalized medicine. Current Opinion in Oncology. 28: 5-10. PMID 26599293 DOI: 10.1097/Cco.0000000000000249 |
0.679 |
|
| 2015 |
Lussey-Lepoutre C, Bellucci A, Morin A, Buffet A, Amar L, Janin M, Ottolenghi C, Zinzindohoue F, Autret G, Burnichon N, Robidel E, Banting B, Fontaine S, Cuenod CA, Benit P, et al. In vivo detection of succinate by magnetic resonance spectroscopy as a hallmark of SDHx mutations in paraganglioma. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. PMID 26490314 DOI: 10.1158/1078-0432.Ccr-15-1576 |
0.683 |
|
| 2015 |
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, et al. Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas. Nature Communications. 6: 6044. PMID 25625332 DOI: 10.1038/Ncomms7044 |
0.787 |
|
| 2014 |
Bénit P, Letouzé E, Rak M, Aubry L, Burnichon N, Favier J, Gimenez-Roqueplo AP, Rustin P. Unsuspected task for an old team: succinate, fumarate and other Krebs cycle acids in metabolic remodeling. Biochimica Et Biophysica Acta. 1837: 1330-7. PMID 24699309 DOI: 10.1016/J.Bbabio.2014.03.013 |
0.52 |
|
| 2013 |
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, et al. SDH mutations establish a hypermethylator phenotype in paraganglioma. Cancer Cell. 23: 739-52. PMID 23707781 DOI: 10.1016/J.Ccr.2013.04.018 |
0.828 |
|
| 2012 |
Burnichon N, Abermil N, Buffet A, Favier J, Gimenez-Roqueplo AP. The genetics of paragangliomas. European Annals of Otorhinolaryngology, Head and Neck Diseases. 129: 315-8. PMID 23078982 DOI: 10.1016/j.anorl.2012.04.007 |
0.418 |
|
| 2012 |
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. Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma. Human Molecular Genetics. 21: 5397-405. PMID 22962301 DOI: 10.1093/Hmg/Dds374 |
0.808 |
|
| 2012 |
Letouzé E, Sow A, Petel F, Rosati R, Figueiredo BC, Burnichon N, Gimenez-Roqueplo AP, Lalli E, de Reyniès A. Identity by descent mapping of founder mutations in cancer using high-resolution tumor SNP data. Plos One. 7: e35897. PMID 22567117 DOI: 10.1371/Journal.Pone.0035897 |
0.711 |
|
| 2012 |
Buffet A, Venisse A, Nau V, Roncellin I, Boccio V, Le Pottier N, Boussion M, Travers C, Simian C, Burnichon N, Abermil N, Favier J, Jeunemaitre X, Gimenez-Roqueplo AP. A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma. Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme. 44: 359-66. PMID 22517557 DOI: 10.1055/S-0032-1304594 |
0.495 |
|
| 2012 |
Loriot C, Burnichon N, Gadessaud N, Vescovo L, Amar L, Libé R, Bertherat J, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP, Favier J. Epithelial to mesenchymal transition is activated in metastatic pheochromocytomas and paragangliomas caused by SDHB gene mutations. The Journal of Clinical Endocrinology and Metabolism. 97: E954-62. PMID 22492777 DOI: 10.1210/Jc.2011-3437 |
0.826 |
|
| 2012 |
Burnichon N, Cascón A, Schiavi F, Morales NP, Comino-Méndez I, Abermil N, Inglada-Pérez L, de Cubas AA, Amar L, Barontini M, de Quirós SB, Bertherat J, Bignon YJ, Blok MJ, Bobisse S, et al. MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 18: 2828-37. PMID 22452945 DOI: 10.1158/1078-0432.Ccr-12-0160 |
0.744 |
|
| 2012 |
Abermil N, Guillaud-Bataille M, Burnichon N, Venisse A, Manivet P, Guignat L, Drui D, Chupin M, Josseaume C, Affres H, Plouin PF, Bertherat J, Jeunemaître X, Gimenez-Roqueplo AP. TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma. The Journal of Clinical Endocrinology and Metabolism. 97: E805-9. PMID 22419703 DOI: 10.1210/Jc.2011-3360 |
0.604 |
|
| 2012 |
Favier J, Igaz P, Burnichon N, Amar L, Libé R, Badoual C, Tissier F, Bertherat J, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP. Rationale for anti-angiogenic therapy in pheochromocytoma and paraganglioma. Endocrine Pathology. 23: 34-42. PMID 22183643 DOI: 10.1007/S12022-011-9189-0 |
0.633 |
|
| 2011 |
Burnichon N, Vescovo L, Amar L, Libé R, de Reynies A, Venisse A, Jouanno E, Laurendeau I, Parfait B, Bertherat J, Plouin PF, Jeunemaitre X, Favier J, Gimenez-Roqueplo AP. Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Human Molecular Genetics. 20: 3974-85. PMID 21784903 DOI: 10.1093/Hmg/Ddr324 |
0.751 |
|
| 2011 |
Korpershoek E, Favier J, Gaal J, Burnichon N, van Gessel B, Oudijk L, Badoual C, Gadessaud N, Venisse A, Bayley JP, van Dooren MF, de Herder WW, Tissier F, Plouin PF, van Nederveen FH, et al. SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. The Journal of Clinical Endocrinology and Metabolism. 96: E1472-6. PMID 21752896 DOI: 10.1210/Jc.2011-1043 |
0.731 |
|
| 2011 |
Burnichon N, Lepoutre-Lussey C, Laffaire J, Gadessaud N, Molinié V, Hernigou A, Plouin PF, Jeunemaitre X, Favier J, Gimenez-Roqueplo AP. A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma. European Journal of Endocrinology. 164: 141-5. PMID 20923864 DOI: 10.1530/Eje-10-0758 |
0.695 |
|
| 2010 |
Burnichon N, Brière JJ, Libé R, Vescovo L, Rivière J, Tissier F, Jouanno E, Jeunemaitre X, Bénit P, Tzagoloff A, Rustin P, Bertherat J, Favier J, Gimenez-Roqueplo AP. SDHA is a tumor suppressor gene causing paraganglioma Human Molecular Genetics. 19: 3011-3020. PMID 20484225 DOI: 10.1093/Hmg/Ddq206 |
0.745 |
|
| 2010 |
Gaal J, Burnichon N, Korpershoek E, Roncelin I, Bertherat J, Plouin PF, de Krijger RR, Gimenez-Roqueplo AP, Dinjens WN. Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. The Journal of Clinical Endocrinology and Metabolism. 95: 1274-8. PMID 19915015 DOI: 10.1210/Jc.2009-2170 |
0.734 |
|
| 2009 |
Richalet JP, Gimenez-Roqueplo AP, Peyrard S, Vénisse A, Marelle L, Burnichon N, Bouzamondo A, Jeunemaitre X, Azizi M, Elghozi JL. A role for succinate dehydrogenase genes in low chemoresponsiveness to hypoxia? Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society. 19: 335-42. PMID 19768395 DOI: 10.1007/S10286-009-0028-Z |
0.619 |
|
| 2009 |
Favier J, Brière JJ, Burnichon N, Rivière J, Vescovo L, Benit P, Giscos-Douriez I, De Reyniès A, Bertherat J, Badoual C, Tissier F, Amar L, Libé R, Plouin PF, Jeunemaitre X, et al. The Warburg effect is genetically determined in inherited pheochromocytomas. Plos One. 4: e7094. PMID 19763184 DOI: 10.1371/Journal.Pone.0007094 |
0.703 |
|
| 2009 |
Burnichon N, Rohmer V, Amar L, Herman P, Leboulleux S, Darrouzet V, Niccoli P, Gaillard D, Chabrier G, Chabolle F, Coupier I, Thieblot P, Lecomte P, Bertherat J, Wion-Barbot N, et al. The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. The Journal of Clinical Endocrinology and Metabolism. 94: 2817-27. PMID 19454582 DOI: 10.1210/Jc.2008-2504 |
0.726 |
|
| 2009 |
Solis DC, Burnichon N, Timmers HJLM, Raygada MJ, Kozupa A, Merino MJ, Makey D, Adams KT, Venisse A, Gimenez-Roqueplo AP, Pacak K. Penetrance and clinical consequences of a gross SDHB deletion in a large family Clinical Genetics. 75: 354-363. PMID 19389109 DOI: 10.1111/j.1399-0004.2009.01157.x |
0.478 |
|
| 2009 |
Boedeker CC, Erlic Z, Richard S, Kontny U, Gimenez-Roqueplo AP, Cascon A, Robledo M, de Campos JM, van Nederveen FH, de Krijger RR, Burnichon N, Gaal J, Walter MA, Reschke K, Wiech T, et al. Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. The Journal of Clinical Endocrinology and Metabolism. 94: 1938-44. PMID 19336503 DOI: 10.1210/Jc.2009-0354 |
0.663 |
|
| 2009 |
Cascón A, Pita G, Burnichon N, Landa I, López-Jiménez E, Montero-Conde C, Leskelä S, Leandro-García LJ, Letón R, Rodríguez-Antona C, Díaz JA, López-Vidriero E, González-Neira A, Velasco A, Matias-Guiu X, et al. Genetics of pheochromocytoma and paraganglioma in Spanish patients. The Journal of Clinical Endocrinology and Metabolism. 94: 1701-5. PMID 19258401 DOI: 10.1210/Jc.2008-2756 |
0.718 |
|
| 2008 |
Gimenez-Roqueplo AP, Burnichon N, Amar L, Favier J, Jeunemaitre X, Plouin PF. [Achievements of the COMETE program in the genetics of pheochromocytoma]. Bulletin De L'Academie Nationale De Medecine. 192: 105-15; discussion 1. PMID 18663985 |
0.616 |
|
| 2008 |
Gimenez-Roqueplo AP, Burnichon N, Amar L, Favier J, Jeunemaitre X, Plouin PF. Recent advances in the genetics of phaeochromocytoma and functional paraganglioma. Clinical and Experimental Pharmacology & Physiology. 35: 376-9. PMID 18307724 DOI: 10.1111/J.1440-1681.2008.04881.X |
0.604 |
|
| 2008 |
Timmers HJLM, Pacak K, Bertherat J, Lenders JWM, Duet M, Eisenhofer G, Stratakis CA, Niccoli-Sire P, Huy PTB, Burnichon N, Gimenez-Roqueplo AP. Mutations associated with succinate dehydrogenase d-related malignant paragangliomas Clinical Endocrinology. 68: 561-566. PMID 17973943 DOI: 10.1111/J.1365-2265.2007.03086.X |
0.707 |
|
| 2008 |
Gimenez-Roqueplo A, Burnichon N, Amar L, Favier J, Jeunemaitre X, Plouin P. Apports de COMETE à la génétique du phéochromocytome Bulletin De L Academie Nationale De Medecine. 192: 105-116. DOI: 10.1016/S0001-4079(19)32851-1 |
0.528 |
|
| 2007 |
Amar L, Baudin E, Burnichon N, Peyrard S, Silvera S, Bertherat J, Bertagna X, Schlumberger M, Jeunemaitre X, Gimenez-Roqueplo AP, Plouin PF. Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. The Journal of Clinical Endocrinology and Metabolism. 92: 3822-8. PMID 17652212 DOI: 10.1210/Jc.2007-0709 |
0.688 |
|
| 2007 |
Cazabat L, Libè R, Perlemoine K, René-Corail F, Burnichon N, Gimenez-Roqueplo AP, Dupasquier-Fediaevsky L, Bertagna X, Clauser E, Chanson P, Bertherat J, Raffin-Sanson ML. Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas. European Journal of Endocrinology. 157: 1-8. PMID 17609395 DOI: 10.1530/Eje-07-0181 |
0.722 |
|
| 2007 |
Lesca G, Olivieri C, Burnichon N, Pagella F, Carette MF, Gilbert-Dussardier B, Goizet C, Roume J, Rabilloud M, Saurin JC, Cottin V, Honnorat J, Coulet F, Giraud S, Calender A, et al. Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 14-22. PMID 17224686 DOI: 10.1097/Gim.0B013E31802D8373 |
0.425 |
|
| 2006 |
Lesca G, Burnichon N, Raux G, Tosi M, Pinson S, Marion MJ, Babin E, Gilbert-Dussardier B, Rivière S, Goizet C, Faivre L, Plauchu H, Frébourg T, Calender A, Giraud S, et al. Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. Human Mutation. 27: 598. PMID 16705692 DOI: 10.1002/Humu.9421 |
0.589 |
|
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