| 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 |
0.712 |
|
| 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 |
0.715 |
|
| 2023 |
Gimenez-Roqueplo AP, Robledo M, Dahia PLM. Update on the genetics of paragangliomas. Endocrine-Related Cancer. 30. PMID 36748842 DOI: 10.1530/ERC-22-0373 |
0.388 |
|
| 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, ... ... Gimenez-Roqueplo AP, 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 |
0.743 |
|
| 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 |
0.701 |
|
| 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 |
0.606 |
|
| 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, ... ... Gimenez-Roqueplo AP, 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 |
0.677 |
|
| 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 |
0.71 |
|
| 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 |
0.665 |
|
| 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, 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 |
0.651 |
|
| 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, ... ... Gimenez-Roqueplo AP, 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 |
0.718 |
|
| 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 |
0.566 |
|
| 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 |
0.714 |
|
| 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, ... ... Gimenez-Roqueplo AP, 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 |
0.668 |
|
| 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, 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 |
0.642 |
|
| 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 |
0.664 |
|
| 2020 |
Lenders JWM, Kerstens MN, Amar L, Prejbisz A, Robledo M, Taieb D, Pacak K, Crona J, Zelinka T, Mannelli M, Deutschbein T, Timmers HJLM, Castinetti F, Dralle H, Widimský J, ... Gimenez-Roqueplo AP, et al. Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working Group on endocrine hypertension of the European society of hypertension. Journal of Hypertension. PMID 32412940 DOI: 10.1097/Hjh.0000000000002438 |
0.348 |
|
| 2020 |
Larsen LV, Mirebeau-Prunier D, Imai T, Alvarez-Escola C, Hasse-Lazar K, Censi S, Castroneves LA, Sakurai A, Kihara M, Horiuchi K, Barbu VD, Borson-Chazot F, Gimenez-Roqueplo AP, Pigny P, Pinson S, et al. Primary hyperparathyroidism as first manifestation in MEN 2A: an international multicenter study. Endocrine Connections. PMID 32375120 DOI: 10.1530/Ec-20-0163 |
0.314 |
|
| 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 |
0.765 |
|
| 2020 |
Morin A, Goncalves J, Moog S, Castro-Vega LJ, Job S, Buffet A, Fontenille MJ, Woszczyk J, Gimenez-Roqueplo AP, Letouzé E, Favier J. TET-Mediated Hypermethylation Primes SDH-Deficient Cells for HIF2α-Driven Mesenchymal Transition. Cell Reports. 30: 4551-4566.e7. PMID 32234487 DOI: 10.1016/J.Celrep.2020.03.022 |
0.42 |
|
| 2020 |
Dahia P, Clifton-Bligh R, Gimenez-Roqueplo AP, Robledo M, Jimenez C. Metastatic pheochromocytoma and paraganglioma: proceedings of the MEN2019 workshop. Endocrine-Related Cancer. PMID 32069214 DOI: 10.1530/Erc-19-0435 |
0.463 |
|
| 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, ... ... Gimenez-Roqueplo AP, 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 |
0.72 |
|
| 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 |
0.769 |
|
| 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 |
0.725 |
|
| 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 |
0.737 |
|
| 2019 |
Elenkova A, Robeva R, Gimenez-Roqueplo AP, Zacharieva S. A 40-YEAR FOLLOW-UP OF A PATIENT WITH MULTIPLE PARAGANGLIOMAS AND A SDHD MUTATION. Acta Endocrinologica (Bucharest, Romania : 2005). 15: 254-260. PMID 31508186 DOI: 10.4183/aeb.2019.254 |
0.424 |
|
| 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, ... ... Gimenez-Roqueplo AP, 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 |
0.602 |
|
| 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 |
0.744 |
|
| 2019 |
Goncalves J, Lussey-Lepoutre C, Favier J, Gimenez-Roqueplo AP, Castro-Vega LJ. Emerging molecular markers of metastatic pheochromocytomas and paragangliomas. Annales D'Endocrinologie. PMID 31053249 DOI: 10.1016/J.Ando.2019.04.003 |
0.339 |
|
| 2019 |
Gimenez-Roqueplo AP. Adrenal tumors: when to search for a germline abnormality? Current Opinion in Oncology. 31: 230-235. PMID 30985498 DOI: 10.1097/Cco.0000000000000525 |
0.409 |
|
| 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, ... ... Gimenez-Roqueplo AP, 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 |
0.644 |
|
| 2019 |
Buffet A, Ben Aim L, Leboulleux S, Drui D, Vezzosi D, Libé R, Ajzenberg C, Bernardeschi D, Cariou B, Chabolle F, Chabre O, Darrouzet V, Delemer B, Desailloud R, Goichot B, ... ... Gimenez-Roqueplo AP, et al. Positive impact of genetic test on the management and outcome of patients with paraganglioma and/or pheochromocytoma. The Journal of Clinical Endocrinology and Metabolism. PMID 30698717 DOI: 10.1210/Jc.2018-02411 |
0.456 |
|
| 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, ... ... Gimenez-Roqueplo AP, 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 |
0.731 |
|
| 2018 |
Touat M, Gratieux J, Condette Auliac S, Sejean K, Aldea S, Savatovsky J, Perkins G, Blons H, Ligon KL, Idbaih A, Hollebecque A, Gimenez-Roqueplo AP, Laurent-Puig P, Sanson M, Villa C, et al. Vemurafenib and cobimetinib overcome resistance to vemurafenib in -mutant ganglioglioma. Neurology. PMID 30120137 DOI: 10.1212/Wnl.0000000000006171 |
0.436 |
|
| 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 |
0.728 |
|
| 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, ... ... Gimenez-Roqueplo AP, 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 |
0.664 |
|
| 2018 |
Calsina B, Currás-Freixes M, Buffet A, Pons T, Contreras L, Letón R, Comino-Méndez I, Remacha L, Calatayud M, Obispo B, Martin A, Cohen R, Richter S, Balmaña J, Korpershoek E, ... ... Gimenez-Roqueplo AP, et al. Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30008476 DOI: 10.1038/S41436-018-0068-7 |
0.393 |
|
| 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, ... ... Gimenez-Roqueplo AP, 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 |
0.77 |
|
| 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, ... ... Gimenez-Roqueplo AP, 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 |
0.793 |
|
| 2017 |
Lussey-Lepoutre C, Buffet A, Gimenez-Roqueplo AP, Favier J. Mitochondrial Deficiencies in the Predisposition to Paraganglioma. Metabolites. 7. PMID 28471419 DOI: 10.3390/Metabo7020017 |
0.477 |
|
| 2017 |
Mathiesen JS, Habra MA, Bassett JH, Choudhury SM, Balasubramanian SP, Howlett TA, Robinson BG, Gimenez-Roqueplo AP, Castinetti F, Vestergaard P, Frank-Raue K. Risk profile of the RET A883F germline mutation: an international collaborative study. The Journal of Clinical Endocrinology and Metabolism. PMID 28323957 DOI: 10.1210/jc.2016-3640 |
0.36 |
|
| 2017 |
Fishbein L, Leshchiner I, Walter V, Danilova L, Robertson AG, Johnson AR, Lichtenberg TM, Murray BA, Ghayee HK, Else T, Ling S, Jefferys SR, de Cubas AA, Wenz B, Korpershoek E, ... ... Gimenez-Roqueplo AP, et al. Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma. Cancer Cell. PMID 28162975 DOI: 10.1016/J.Ccell.2017.01.001 |
0.419 |
|
| 2017 |
Oudijk L, Papathomas T, de Krijger R, Korpershoek E, Gimenez-Roqueplo AP, Favier J, Canu L, Mannelli M, Rapa I, Currás-Freixes M, Robledo M, Smid M, Papotti M, Volante M. mTORC1 Complex is Significantly Over-Activated in SDHX-Mutated Paragangliomas. Neuroendocrinology. PMID 28122379 DOI: 10.1159/000455864 |
0.34 |
|
| 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 |
0.736 |
|
| 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 |
0.577 |
|
| 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, ... ... Gimenez-Roqueplo AP, 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 |
0.699 |
|
| 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 |
0.767 |
|
| 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 |
0.639 |
|
| 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 |
0.73 |
|
| 2016 |
Fishbein L, Leshchiner I, Walter V, Danilova L, Robertson AG, Johnson A, Lichtenberg T, Murray BA, Ghayee HK, Else T, Ling S, Jefferys SR, Cubas AAd, Wenz B, Korpershoek E, ... ... Gimenez-Roqueplo A, et al. Abstract 4371: Integrated molecular characterization of pheochromocytoma and paraganglioma including a novel, recurrent and prognostic fusion gene Cancer Research. 76: 4371-4371. DOI: 10.1158/1538-7445.Am2016-4371 |
0.585 |
|
| 2015 |
Plouin PF, Amar L, Gimenez-Roqueplo AP. [Hypertension, catecholamine hypersecretion and potential for metastasis: recent progress in the pathophysiology and genetics of pheochromocytoma and paraganglioma]. Bulletin De L'Academie Nationale De Medecine. 199: 313-9. PMID 27476312 |
0.408 |
|
| 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, ... ... Gimenez-Roqueplo AP, 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 |
0.729 |
|
| 2015 |
Loriot C, Domingues M, Berger A, Menara M, Ruel M, Morin A, Castro-Vega LJ, Letouzé É, Martinelli C, Bemelmans AP, Larue L, Gimenez-Roqueplo AP, Favier J. Deciphering the molecular basis of invasiveness in Sdhb-deficient cells. Oncotarget. PMID 26460615 DOI: 10.18632/Oncotarget.5106 |
0.799 |
|
| 2015 |
Gravel G, Niccoli P, Rohmer V, Moulin G, Borson-Chazot F, Rousset P, Pasco-Papon A, Marcus C, Dubrulle F, Gouya H, Bidault F, Dupas B, Gabrillargues J, Caumont-Prim A, Hernigou A, ... Gimenez-Roqueplo AP, et al. The value of a rapid contrast-enhanced angio-MRI protocol in the detection of head and neck paragangliomas in SDHx mutations carriers: a retrospective study on behalf of the PGL.EVA investigators. European Radiology. PMID 26427697 DOI: 10.1007/S00330-015-4024-5 |
0.398 |
|
| 2015 |
Lepoutre-Lussey C, Thibault C, Buffet A, Morin A, Badoual C, Bénit P, Rustin P, Ottolenghi C, Janin M, Castro-Vega LJ, Trapman J, Gimenez-Roqueplo AP, Favier J. From Nf1 to Sdhb knockout: Successes and failures in the quest for animal models of pheochromocytoma. Molecular and Cellular Endocrinology. PMID 26123588 DOI: 10.1016/J.Mce.2015.06.027 |
0.412 |
|
| 2015 |
Benusiglio PR, Couvé S, Gilbert-Dussardier B, Deveaux S, Le Jeune H, Da Costa M, Fromont G, Memeteau F, Yacoub M, Coupier I, Leroux D, Méjean A, Escudier B, Giraud S, Gimenez-Roqueplo AP, et al. A germline mutation in PBRM1 predisposes to renal cell carcinoma. Journal of Medical Genetics. 52: 426-30. PMID 25911086 DOI: 10.1136/Jmedgenet-2014-102912 |
0.478 |
|
| 2015 |
Papathomas TG, Oudijk L, Persu A, Gill AJ, van Nederveen F, Tischler AS, Tissier F, Volante M, Matias-Guiu X, Smid M, Favier J, Rapizzi E, Libe R, Currás-Freixes M, Aydin S, ... ... Gimenez-Roqueplo AP, et al. SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T). Modern Pathology : An Official Journal of the United States and Canadian Academy of Pathology, Inc. 28: 807-21. PMID 25720320 DOI: 10.1038/modpathol.2015.41 |
0.497 |
|
| 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, ... ... Gimenez-Roqueplo AP, et al. Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas. Nature Communications. 6: 6044. PMID 25625332 DOI: 10.1038/Ncomms7044 |
0.799 |
|
| 2015 |
Menara M, Oudijk L, Badoual C, Bertherat J, Lepoutre-Lussey C, Amar L, Iturrioz X, Sibony M, Zinzindohoué F, de Krijger R, Gimenez-Roqueplo AP, Favier J. SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma. The Journal of Clinical Endocrinology and Metabolism. 100: E287-91. PMID 25405498 DOI: 10.1210/jc.2014-1870 |
0.495 |
|
| 2015 |
Favier J, Amar L, Gimenez-Roqueplo AP. Paraganglioma and phaeochromocytoma: from genetics to personalized medicine. Nature Reviews. Endocrinology. 11: 101-11. PMID 25385035 DOI: 10.1038/Nrendo.2014.188 |
0.483 |
|
| 2014 |
Couvé S, Ladroue C, Laine E, Mahtouk K, Guégan J, Gad S, Le Jeune H, Le Gentil M, Nuel G, Kim WY, Lecomte B, Pagès JC, Collin C, Lasne F, Benusiglio PR, ... ... Gimenez-Roqueplo AP, et al. Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. Cancer Research. 74: 6554-64. PMID 25371412 DOI: 10.1158/0008-5472.Can-14-1161 |
0.482 |
|
| 2014 |
Rafat C, Zinzindohoue F, Hernigou A, Hignette C, Favier J, Tenenbaum F, Gimenez-Roqueplo AP, Plouin PF, Amar L. Peritoneal implantation of pheochromocytoma following tumor capsule rupture during surgery. The Journal of Clinical Endocrinology and Metabolism. 99: E2681-5. PMID 25188716 DOI: 10.1210/Jc.2014-1975 |
0.35 |
|
| 2014 |
Morin A, Letouzé E, Gimenez-Roqueplo AP, Favier J. Oncometabolites-driven tumorigenesis: From genetics to targeted therapy. International Journal of Cancer. Journal International Du Cancer. 135: 2237-48. PMID 25124653 DOI: 10.1002/Ijc.29080 |
0.447 |
|
| 2014 |
Nozières C, Zhang CX, Buffet A, Dupasquier S, Vargas-Poussou R, Guillaud-Bataille M, Cordier-Bussat M, Ruszniewski P, Christin-Maitre S, Murat A, Groussin L, Vezzosi D, Cardot-Bauters C, Hervieu V, Joly MO, ... ... Gimenez-Roqueplo AP, et al. p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation? Annales D'Endocrinologie. 75: 133-40. PMID 24997771 DOI: 10.1016/J.Ando.2014.05.003 |
0.459 |
|
| 2014 |
Hadoux J, Favier J, Scoazec JY, Leboulleux S, Al Ghuzlan A, Caramella C, Déandreis D, Borget I, Loriot C, Chougnet C, Letouzé E, Young J, Amar L, Bertherat J, Libé R, ... ... Gimenez-Roqueplo AP, et al. SDHB mutations are associated with response to temozolomide in patients with metastatic pheochromocytoma or paraganglioma. International Journal of Cancer. 135: 2711-20. PMID 24752622 DOI: 10.1002/Ijc.28913 |
0.817 |
|
| 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 |
0.608 |
|
| 2014 |
Castro-Vega LJ, Buffet A, De Cubas AA, Cascón A, Menara M, Khalifa E, Amar L, Azriel S, Bourdeau I, Chabre O, Currás-Freixes M, Franco-Vidal V, Guillaud-Bataille M, Simian C, Morin A, ... ... Gimenez-Roqueplo AP, et al. Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. Human Molecular Genetics. 23: 2440-6. PMID 24334767 DOI: 10.1093/Hmg/Ddt639 |
0.603 |
|
| 2014 |
Buffet A, Smati S, Mansuy L, Ménara M, Lebras M, Heymann MF, Simian C, Favier J, Murat A, Cariou B, Gimenez-Roqueplo AP. Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome. The Journal of Clinical Endocrinology and Metabolism. 99: E369-73. PMID 24276449 DOI: 10.1210/Jc.2013-2600 |
0.539 |
|
| 2014 |
Bento C, Percy MJ, Gardie B, Maia TM, van Wijk R, Perrotta S, Della Ragione F, Almeida H, Rossi C, Girodon F, Aström M, Neumann D, Schnittger S, Landin B, Minkov M, ... ... Gimenez-Roqueplo AP, et al. Genetic basis of congenital erythrocytosis: mutation update and online databases. Human Mutation. 35: 15-26. PMID 24115288 DOI: 10.1002/Humu.22448 |
0.558 |
|
| 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, ... ... Gimenez-Roqueplo AP, 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 |
0.839 |
|
| 2013 |
Gimenez-Roqueplo AP, Caumont-Prim A, Houzard C, Hignette C, Hernigou A, Halimi P, Niccoli P, Leboulleux S, Amar L, Borson-Chazot F, Cardot-Bauters C, Delemer B, Chabolle F, Coupier I, Libé R, et al. Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators. The Journal of Clinical Endocrinology and Metabolism. 98: E162-73. PMID 23162105 DOI: 10.1210/Jc.2012-2975 |
0.418 |
|
| 2012 |
Favier J, Buffet A, Gimenez-Roqueplo AP. HIF2A mutations in paraganglioma with polycythemia. The New England Journal of Medicine. 367: 2161; author reply 2. PMID 23190243 DOI: 10.1056/Nejmc1211953 |
0.516 |
|
| 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 |
0.818 |
|
| 2012 |
Favier J, Gimenez-Roqueplo AP. [Genetics of paragangliomas and pheochromocytomas]. Medecine Sciences : M/S. 28: 625-32. PMID 22805139 DOI: 10.1051/Medsci/2012286016 |
0.505 |
|
| 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 |
0.749 |
|
| 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 |
0.837 |
|
| 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, ... ... Gimenez-Roqueplo AP, 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 |
0.775 |
|
| 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 |
0.669 |
|
| 2012 |
Gimenez-Roqueplo AP, Dahia PL, Robledo M. An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme. 44: 328-33. PMID 22328163 DOI: 10.1055/s-0031-1301302 |
0.505 |
|
| 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 |
0.663 |
|
| 2012 |
Ladroue C, Hoogewijs D, Gad S, Carcenac R, Storti F, Barrois M, Gimenez-Roqueplo AP, Leporrier M, Casadevall N, Hermine O, Kiladjian JJ, Baruchel A, Fakhoury F, Bressac-de Paillerets B, Feunteun J, et al. Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia. Haematologica. 97: 9-14. PMID 21933857 DOI: 10.3324/Haematol.2011.044644 |
0.516 |
|
| 2011 |
King KS, Prodanov T, Kantorovich V, Fojo T, Hewitt JK, Zacharin M, Wesley R, Lodish M, Raygada M, Gimenez-Roqueplo AP, McCormack S, Eisenhofer G, Milosevic D, Kebebew E, Stratakis CA, et al. Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. 29: 4137-42. PMID 21969497 DOI: 10.1200/Jco.2011.34.6353 |
0.358 |
|
| 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 |
0.778 |
|
| 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, ... ... Gimenez-Roqueplo AP, 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 |
0.765 |
|
| 2011 |
Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, Debaix H, Grisart B, Bridoux F, Unwin R, Moulin B, Haymann JP, Vantyghem MC, Rigothier C, Dussol B, Godin M, ... ... Gimenez-Roqueplo AP, et al. Spectrum of mutations in Gitelman syndrome. Journal of the American Society of Nephrology : Jasn. 22: 693-703. PMID 21415153 DOI: 10.1681/Asn.2010090907 |
0.549 |
|
| 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 |
0.739 |
|
| 2010 |
Favier J, Gimenez-Roqueplo AP. Pheochromocytomas: the (pseudo)-hypoxia hypothesis. Best Practice & Research. Clinical Endocrinology & Metabolism. 24: 957-68. PMID 21115164 DOI: 10.1016/J.Beem.2010.10.004 |
0.422 |
|
| 2010 |
Gaujoux S, Pinson S, Gimenez-Roqueplo AP, Amar L, Ragazzon B, Launay P, Meatchi T, Libé R, Bertagna X, Audebourg A, Zucman-Rossi J, Tissier F, Bertherat J. Inactivation of the APC gene is constant in adrenocortical tumors from patients with familial adenomatous polyposis but not frequent in sporadic adrenocortical cancers. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 16: 5133-41. PMID 20978149 DOI: 10.1158/1078-0432.Ccr-10-1497 |
0.494 |
|
| 2010 |
Daly AF, Tichomirowa MA, Petrossians P, Heliövaara E, Jaffrain-Rea ML, Barlier A, Naves LA, Ebeling T, Karhu A, Raappana A, Cazabat L, De Menis E, Montañana CF, Raverot G, Weil RJ, ... ... Gimenez-Roqueplo AP, et al. Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. The Journal of Clinical Endocrinology and Metabolism. 95: E373-83. PMID 20685857 DOI: 10.1210/Jc.2009-2556 |
0.473 |
|
| 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 |
0.775 |
|
| 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 |
0.767 |
|
| 2009 |
Gimenez-Roqueplo AP. Genetics of chromaffin tumors. Expert Review of Endocrinology & Metabolism. 4: 143-151. PMID 30780860 DOI: 10.1586/17446651.4.2.143 |
0.477 |
|
| 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 |
0.679 |
|
| 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, ... ... Gimenez-Roqueplo AP, et al. The Warburg effect is genetically determined in inherited pheochromocytomas. Plos One. 4: e7094. PMID 19763184 DOI: 10.1371/Journal.Pone.0007094 |
0.744 |
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| 2009 |
van Nederveen FH, Gaal J, Favier J, Korpershoek E, Oldenburg RA, de Bruyn EM, Sleddens HF, Derkx P, Rivière J, Dannenberg H, Petri BJ, Komminoth P, Pacak K, Hop WC, Pollard PJ, ... ... Gimenez-Roqueplo AP, et al. An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. The Lancet. Oncology. 10: 764-71. PMID 19576851 DOI: 10.1016/S1470-2045(09)70164-0 |
0.534 |
|
| 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, ... ... Gimenez-Roqueplo AP, 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 |
0.762 |
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| 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 |
0.687 |
|
| 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, ... Gimenez-Roqueplo AP, 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 |
0.757 |
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| 2009 |
Timmers HJLM, Gimenez-Roqueplo AP, Mannelli M, Pacak K. Clinical aspects of SDHx-related pheochromocytoma and paraganglioma Endocrine-Related Cancer. 16: 391-400. PMID 19190077 DOI: 10.1677/Erc-08-0284 |
0.509 |
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| 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 |
0.683 |
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| 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 |
0.701 |
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| 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 |
0.748 |
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| 2008 |
Pasini B, McWhinney SR, Bei T, Matyakhina L, Stergiopoulos S, Muchow M, Boikos SA, Ferrando B, Pacak K, Assie G, Baudin E, Chompret A, Ellison JW, Briere JJ, Rustin P, ... Gimenez-Roqueplo AP, et al. Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. European Journal of Human Genetics : Ejhg. 16: 79-88. PMID 17667967 DOI: 10.1038/Sj.Ejhg.5201904 |
0.481 |
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| 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 |
0.606 |
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| 2007 |
Thouënnon E, Elkahloun AG, Guillemot J, Gimenez-Roqueplo AP, Bertherat J, Pierre A, Ghzili H, Grumolato L, Muresan M, Klein M, Lefebvre H, Ouafik L, Vaudry H, Plouin PF, Yon L, et al. Identification of potential gene markers and insights into the pathophysiology of pheochromocytoma malignancy. The Journal of Clinical Endocrinology and Metabolism. 92: 4865-72. PMID 17878247 DOI: 10.1210/Jc.2007-1253 |
0.364 |
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| 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 |
0.734 |
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| 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 |
0.759 |
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| 2007 |
Daly AF, Vanbellinghen JF, Khoo SK, Jaffrain-Rea ML, Naves LA, Guitelman MA, Murat A, Emy P, Gimenez-Roqueplo AP, Tamburrano G, Raverot G, Barlier A, De Herder W, Penfornis A, Ciccarelli E, et al. Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. The Journal of Clinical Endocrinology and Metabolism. 92: 1891-6. PMID 17244780 DOI: 10.1210/Jc.2006-2513 |
0.488 |
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| 2007 |
Pacak K, Eisenhofer G, Ahlman H, Bornstein SR, Gimenez-Roqueplo AP, Grossman AB, Kimura N, Mannelli M, McNicol AM, Tischler AS. Pheochromocytoma: recommendations for clinical practice from the First International Symposium. October 2005. Nature Clinical Practice. Endocrinology & Metabolism. 3: 92-102. PMID 17237836 DOI: 10.1038/Ncpendmet0396 |
0.464 |
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| 2007 |
Burnichon N, Strompf L, Venisse A, Drouot N, Frebourg T, Plouin P, Jeunemaitre X, Gimenez-Roqueplo A. Detection of large rearrangements in the pheochromocytomas genes using QMPSF (quantitative multiplex PCR of short fluorescent fragments): improvement of genetic testing Journal of Hypertension. 25. DOI: 10.1097/01.Hjh.0000298978.26032.A7 |
0.322 |
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| 2006 |
Gimenez-Roqueplo AP. [Hereditary paragangliomas and pheochromocytomas]. Nephrologie & Therapeutique. 2: S137-42. PMID 17373214 |
0.327 |
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| 2006 |
Perdu J, Boutouyrie P, Lahlou-Laforêt K, Khau Van Kien P, Denarié N, Mousseaux E, Sapoval M, Julia P, Zinzindohoué F, Touraine P, Dumez Y, Trystram D, Vignal-Clermont C, Gimenez-Roqueplo AP, Jeunemaitre X, et al. [Vascular Ehlers-Danlos syndrome]. Presse Medicale (Paris, France : 1983). 35: 1864-75. PMID 17159712 DOI: 10.1016/S0755-4982(06)74919-3 |
0.338 |
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| 2006 |
Plouin PF, Gimenez-Roqueplo AP. Pheochromocytomas and secreting paragangliomas. Orphanet Journal of Rare Diseases. 1: 49. PMID 17156452 DOI: 10.1186/1750-1172-1-49 |
0.381 |
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| 2006 |
Gimenez-Roqueplo AP, Lehnert H, Mannelli M, Neumann H, Opocher G, Maher ER, Plouin PF. Phaeochromocytoma, new genes and screening strategies. Clinical Endocrinology. 65: 699-705. PMID 17121518 DOI: 10.1111/j.1365-2265.2006.02714.x |
0.344 |
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| 2006 |
Gimenez-Roqueplo AP. New advances in the genetics of pheochromocytoma and paraganglioma syndromes. Annals of the New York Academy of Sciences. 1073: 112-21. PMID 17102078 DOI: 10.1196/annals.1353.012 |
0.401 |
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| 2006 |
Bornstein SR, Gimenez-Roqueplo AP. Genetic testing in pheochromocytoma: increasing importance for clinical decision making. Annals of the New York Academy of Sciences. 1073: 94-103. PMID 17102076 DOI: 10.1196/annals.1353.010 |
0.499 |
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| 2006 |
Plouin PF, Gimenez-Roqueplo AP. Initial work-up and long-term follow-up in patients with phaeochromocytomas and paragangliomas. Best Practice & Research. Clinical Endocrinology & Metabolism. 20: 421-34. PMID 16980203 DOI: 10.1016/J.Beem.2006.07.004 |
0.363 |
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| 2006 |
Plouin PF, Gimenez-Roqueplo AP. The genetic basis of pheochromocytoma: who to screen and how? Nature Clinical Practice. Endocrinology & Metabolism. 2: 60-1. PMID 16932255 DOI: 10.1038/Ncpendmet0097 |
0.435 |
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| 2006 |
Brière JJ, Favier J, Gimenez-Roqueplo AP, Rustin P. Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation. American Journal of Physiology. Cell Physiology. 291: C1114-20. PMID 16760265 DOI: 10.1152/Ajpcell.00216.2006 |
0.417 |
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| 2006 |
Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PLM, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, et al. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes Journal of Clinical Endocrinology and Metabolism. 91: 827-836. PMID 16317055 DOI: 10.1210/Jc.2005-1862 |
0.353 |
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| 2005 |
Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac-de Paillerets B, Chabre O, Chamontin B, Delemer B, Giraud S, Murat A, Niccoli-Sire P, Richard S, Rohmer V, Sadoul JL, Strompf L, ... ... Gimenez-Roqueplo AP, et al. Genetic testing in pheochromocytoma or functional paraganglioma. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. 23: 8812-8. PMID 16314641 DOI: 10.1200/Jco.2005.03.1484 |
0.357 |
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| 2005 |
Gimenez-Roqueplo AP, Lahlou-Laforêt K. [Psychological aspects of genetic diagnosis of endocrine tumors]. Annales D'Endocrinologie. 66: 284-8. PMID 15988392 DOI: 10.1016/S0003-4266(05)81763-9 |
0.358 |
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| 2005 |
Favier J, Brière JJ, Strompf L, Amar L, Filali M, Jeunemaitre X, Rustin P, Gimenez-Roqueplo AP. Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency. Hormone Research. 63: 171-9. PMID 15795514 DOI: 10.1159/000084685 |
0.492 |
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| 2005 |
Amar L, Servais A, Gimenez-Roqueplo AP, Zinzindohoue F, Chatellier G, Plouin PF. Year of diagnosis, features at presentation, and risk of recurrence in patients with pheochromocytoma or secreting paraganglioma. The Journal of Clinical Endocrinology and Metabolism. 90: 2110-6. PMID 15644401 DOI: 10.1210/Jc.2004-1398 |
0.373 |
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| 2004 |
Zantour B, Guilhaume B, Tissier F, Louvel A, Jeunemaitre X, Gimenez-Roqueplo AP, Bertagna X. A thyroid nodule revealing a paraganglioma in a patient with a new germline mutation in the succinate dehydrogenase B gene. European Journal of Endocrinology. 151: 433-8. PMID 15476441 DOI: 10.1530/Eje.0.1510433 |
0.464 |
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| 2004 |
Filali M, Le Jeunne C, Durand E, Grinda JM, Roetto A, Daraio F, Bruneval P, Jeunemaitre X, Gimenez-Roqueplo AP. Juvenile hemochromatosis HJV-related revealed by cardiogenic shock. Blood Cells, Molecules & Diseases. 33: 120-4. PMID 15315789 DOI: 10.1016/J.Bcmd.2004.05.001 |
0.462 |
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| 2004 |
Lanzara C, Roetto A, Daraio F, Rivard S, Ficarella R, Simard H, Cox TM, Cazzola M, Piperno A, Gimenez-Roqueplo AP, Grammatico P, Volinia S, Gasparini P, Camaschella C. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood. 103: 4317-21. PMID 14982873 DOI: 10.1182/Blood-2004-01-0192 |
0.404 |
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| 2003 |
Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, Khau Van Kien P, Corvol P, Plouin PF, Jeunemaitre X. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Research. 63: 5615-21. PMID 14500403 |
0.535 |
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| 2002 |
Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Kerlan V, Plouin PF, Rötig A, Jeunemaitre X. Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. The Journal of Clinical Endocrinology and Metabolism. 87: 4771-4. PMID 12364472 DOI: 10.1210/Jc.2002-020525 |
0.463 |
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| 2001 |
Gimenez-Roqueplo AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, Rötig A, Jeunemaitre X. The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. American Journal of Human Genetics. 69: 1186-97. PMID 11605159 DOI: 10.1086/324413 |
0.419 |
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| 2000 |
Le Hir H, Charlet-Berguerand N, Gimenez-Roqueplo A, Mannelli M, Plouin P, de Franciscis V, Thermes C. Relative expression of the RET9 and RET51 isoforms in human pheochromocytomas. Oncology. 58: 311-8. PMID 10838497 DOI: 10.1159/000012118 |
0.415 |
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| 1999 |
Jeunemaitre X, Gimenez-Roqueplo A, Célérier J, Corvol P. Angiotensinogen variants and human hypertension. Current Hypertension Reports. 1: 31-41. PMID 10981040 DOI: 10.1007/S11906-999-0071-0 |
0.371 |
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| 1999 |
Corvol P, Persu A, Gimenez-Roqueplo AP, Jeunemaitre X. Seven lessons from two candidate genes in human essential hypertension: angiotensinogen and epithelial sodium channel. Hypertension (Dallas, Tex. : 1979). 33: 1324-31. PMID 10373210 DOI: 10.1161/01.Hyp.33.6.1324 |
0.393 |
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| 1997 |
Jeunemaitre X, Inoue I, Williams C, Charru A, Tichet J, Powers M, Sharma AM, Gimenez-Roqueplo AP, Hata A, Corvol P, Lalouel JM. Haplotypes of angiotensinogen in essential hypertension. American Journal of Human Genetics. 60: 1448-60. PMID 9199566 DOI: 10.1086/515452 |
0.304 |
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| 1996 |
Gimenez-Roqueplo AP, Leconte I, Cohen P, Simon D, Guyene TT, Célerier J, Pau B, Corvol P, Clauser E, Jeunemaitre X. The natural mutation Y248C of human angiotensinogen leads to abnormal glycosylation and altered immunological recognition of the protein. The Journal of Biological Chemistry. 271: 9838-44. PMID 8621667 DOI: 10.1074/Jbc.271.16.9838 |
0.338 |
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