Resultados de procura - Alexandre Buffet

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  1. 1
    Pheochromocytoma and paraganglioma

    Pheochromocytoma and paraganglioma por Nelly Burnichon, Alexandre Buffet, Anne‐Paule Gimenez‐Roqueplo

    Publicado 2015
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  2. 2
    An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma

    An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma por Alexandre Buffet, Nelly Burnichon, Judith Favier, Anne‐Paule Gimenez‐Roqueplo

    Publicado 2020
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  3. 3
    Mosaicism in<i>HIF2A</i>-Related Polycythemia-Paraganglioma Syndrome

    Mosaicism in<i>HIF2A</i>-Related Polycythemia-Paraganglioma Syndrome por Alexandre Buffet, Sarra Smati, L Mansuy, Mélanie Menara, M. Lebras, Marie‐Françoise Heymann, Christophe Simian, Judith Favier, Arnaud Murat, Bertrand Cariou, Anne‐Paule Gimenez‐Roqueplo

    Publicado 2013
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  4. 4
    Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

    Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome por Éric Bieth, Sanaa Eddiry, Véronique Gaston, F. Lorenzini, Alexandre Buffet, Françoise Auriol, Catherine Molinas, Dorothée Cailley, Caroline Rooryck, Benoı̂t Arveiler, Jérôme Cavaillé, Jean‐Pierre Salles, Maïthé Tauber

    Publicado 2014
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  5. 5
    TET-Mediated Hypermethylation Primes SDH-Deficient Cells for HIF2α-Driven Mesenchymal Transition

    TET-Mediated Hypermethylation Primes SDH-Deficient Cells for HIF2α-Driven Mesenchymal Transition por Aurélie Morin, Judith Goncalves, Sophie Moog, Luis-Jaime Castro-Vega, Sylvie Job, Alexandre Buffet, Marie‐Joséphine Fontenille, J Woszczyk, Anne‐Paule Gimenez‐Roqueplo, Éric Letouzé, Judith Favier

    Publicado 2020
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  6. 6
    Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

    Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma por Nelly Burnichon, Alexandre Buffet, Béatrice Parfait, Éric Letouzé, Ingrid Laurendeau, Céline Loriot, Éric Pasmant, Nasséra Abermil, L. Valeyrie‐Allanore, Jérôme Bertherat, Laurence Amar, Dominique Vidaud, Judith Favier, Anne‐Paule Gimenez‐Roqueplo

    Publicado 2012
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  7. 7
    SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma

    SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma por Éric Letouzé, Cosimo Martinelli, Céline Loriot, Nelly Burnichon, Nasséra Abermil, Chris Ottolenghi, Maxime Janin, Mélanie Menara, An Thach Nguyen, Paule Bénit, Alexandre Buffet, Charles Marcaillou, Jérôme Bertherat, Laurence Amar, Pierre Rustin, Aurélien de Reyniès, Anne‐Paule Gimenez‐Roqueplo, Judith Favier

    Publicado 2013
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  8. 8
    Telomerase Activation and ATRX Mutations Are Independent Risk Factors for Metastatic Pheochromocytoma and Paraganglioma

    Telomerase Activation and ATRX Mutations Are Independent Risk Factors for Metastatic Pheochromocytoma and Paraganglioma por Sylvie Job, Irena Drašković, Nelly Burnichon, Alexandre Buffet, Jérôme Cros, Charles Lépine, Annabelle Vénisse, Estelle Robidel, Virginie Verkarre, Tchao Méatchi, Mathilde Sibony, Laurence Amar, Jérôme Bertherat, Aurélien de Reyniès, Arturo Londoño‐Vallejo, Judith Favier, Luis Jaime Castro‐Vega, Anne‐Paule Gimenez‐Roqueplo

    Publicado 2018
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  9. 9
    Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma

    Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma por Laurène Ben Aim, Pascal Pigny, Luis Jaime Castro‐Vega, Alexandre Buffet, Laurence Amar, Jérôme Bertherat, D. Drui, Isabelle Guilhem, Éric Baudin, Charlotte Lussey‐Lepoutre, Carole Corsini, G. Chabrier, Claire Briet, Laurence Faivre, Catherine Cardot-Bauters, Judith Favier, Anne‐Paule Gimenez‐Roqueplo, Nelly Burnichon

    Publicado 2019
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  10. 10
    <i>In Vivo</i> Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of <i>SDH</i>x Mutations in Paraganglioma

    <i>In Vivo</i> Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of <i>SDH</i>x Mutations in Paraganglioma por Charlotte Lussey‐Lepoutre, Alexandre Bellucci, Aurélie Morin, Alexandre Buffet, Laurence Amar, Maxime Janin, Chris Ottolenghi, Franck Zinzindohoué, Gwennhaël Autret, Nelly Burnichon, Estelle Robidel, Benjamin Banting, Sébastien Fontaine, C.A. Cuénod, Paule Bénit, Pierre Rustin, P. Halimi, Laure Fournier, Anne‐Paule Gimenez‐Roqueplo, Judith Favier, Bertrand Tavitian

    Publicado 2015
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  11. 11
    Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier <i>SLC25A11</i> Gene Confer a Predisposition to Metastatic Paragangliomas

    Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier <i>SLC25A11</i> Gene Confer a Predisposition to Metastatic Paragangliomas por Alexandre Buffet, Aurélie Morin, Luis-Jaime Castro-Vega, Florence Habarou, Charlotte Lussey‐Lepoutre, Éric Letouzé, Hervé Lefèbvre, Isabelle Guilhem, Magalie Haissaguerre, I. Raingeard, Mathilde Padilla-Girola, Thi Ngoc Anh Tran, Lucien Tchara, Jérôme Bertherat, Laurence Amar, Chris Ottolenghi, Nelly Burnichon, Anne‐Paule Gimenez‐Roqueplo, Judith Favier

    Publicado 2018
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  12. 12
    Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas

    Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas por Luis Jaime Castro‐Vega, Éric Letouzé, Nelly Burnichon, Alexandre Buffet, Pierre-Hélie Disderot, Emmanuel Khalifa, Céline Loriot, Nabila Elarouci, Aurélie Morin, Mélanie Menara, Charlotte Lussey‐Lepoutre, Cécile Badoual, Mathilde Sibony, B. Dousset, Rossella Libé, Franck Zinzindohoué, P.-F. Plouin, Jérôme Bertherat, Laurence Amar, Aurélien de Reyniès, Judith Favier, Anne‐Paule Gimenez‐Roqueplo

    Publicado 2015
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  13. 13
    Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas

    Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas por Luis Jaime Castro‐Vega, Alexandre Buffet, Aguirre A. de Cubas, Alberto Cascón, Mélanie Menara, Emmanuel Khalifa, Laurence Amar, Sharona Azriel, Isabelle Bourdeau, Olivier Chabre, María Currás-Freixes, V. Franco‐Vidal, Marine Guillaud-Bataille, Christophe Simian, Aurélie Morin, Rocío Letón, Álvaro Gómez-Graña, Patrick J. Pollard, Pierre Rustin, Mercedes Robledo, Judith Favier, Anne‐Paule Gimenez‐Roqueplo

    Publicado 2013
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  14. 14
    Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma

    Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma por Alexandre Buffet, Laurène Ben Aim, Sophie Leboulleux, D. Drui, Delphine Vezzosi, Rossella Libé, Christiane Ajzenberg, Danièle Bernardeschi, Bertrand Cariou, Frédéric Chabolle, Olivier Chabre, Vincent Darrouzet, Brigitte Delemer, Rachel Desailloud, B. Goichot, Annabelle Esvant, Lucile Offredo, Philippe Herman, Sandrine Laboureau, Hervé Lefèbvre, P. Pierre, I. Raingeard, Yves Reznik, Jean‐Louis Sadoul, Julien Hadoux, Antoine Tabarin, Igor Tauveron, Delphine Zénaty, Judith Favier, Jérôme Bertherat, Éric Baudin, Laurence Amar, Anne‐Paule Gimenez‐Roqueplo

    Publicado 2019
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  15. 15
    Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

    Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients por Bruna Calsina, María Currás-Freixes, Alexandre Buffet, Tirso Pons, Laura Contreras, Rocío Letón, Iñaki Comino‐Méndez, Laura Remacha, María Calatayud, Berta Obispo, Antoine Martin, R. Cohen, Susan Richter, Judith Balmañà, Esther Korpershoek, Elena Rapizzi, Timo Deutschbein, Laurent Vroonen, Judith Favier, Ronald R. de Krijger, Martin Faßnacht, Felix Beuschlein, Henri Timmers, Graeme Eisenhofer, Massimo Mannelli, Karel Pacák, Jorgina Satrústegui, Cristina Rodríguez‐Antona, Laurence Amar, Alberto Cascón, Nicole Dölker, Anne‐Paule Gimenez‐Roqueplo, Mercedes Robledo

    Publicado 2018
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  16. 16
    International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers

    International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers por Laurence Amar, Karel Pacák, O. Steichen, Scott Akker, Simon Aylwin, Éric Baudin, Alexandre Buffet, Nelly Burnichon, Roderick Clifton‐Bligh, Patricia L. M. Dahia, Martin Faßnacht, Ashley Grossman, Philippe Herman, Rodney J. Hicks, Andrzej Januszewicz, Camilo Jiménez, Henricus P. M. Kunst, Dylan Lewis, Massimo Mannelli, Mitsuhide Naruse, Mercedes Robledo, David Taïeb, David R. Taylor, Henri Timmers, Giorgio Treglia, Nicola Tufton, William F. Young, Jacques W.M. Lenders, Anne‐Paule Gimenez‐Roqueplo, Charlotte Lussey‐Lepoutre

    Publicado 2021
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  17. 17
    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease por Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, David Hoogewijs, Alexandre Buffet, Samantha J.L. Knight, Sophie Gad, Sophie Couvé, Franck Chesnel, Mathilde Pacault, Pierre Lindenbaum, Sylvie Job, Solenne Dumont, Thomas Besnard, Marine Cornec, Hélène Dreau, Melissa M. Pentony, Erika Kvikstad, Sophie Deveaux, Nelly Burnichon, Sophie Ferlicot, Mathias Vilaine, Jean‐Michaël Mazzella, Fabrice Airaud, Céline Garrec, Laurence Heidet, Sabine Irtan, Elpis Mantadakis, Karim Bouchireb, Klaus‐Michael Debatin, Richard Redon, Stéphane Bézieau, Brigitte Bressac–de Paillerets, Bin Tean Teh, François Girodon, Maria-Luigia Randi, Maria Caterina Putti, Vincent Bours, Richard van Wijk, Joachim R. Göthert, Antonis Kattamis, Nicolas Janin, Celeste Bento, Jenny C. Taylor, Yannick Arlot‐Bonnemains, Richard J. Kahnoski, Anne‐Paule Gimenez‐Roqueplo, Holger Cario, Betty Gardie

    Publicado 2018
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  18. 18
    Convergent genetic adaptation in human tumors developed under systemic hypoxia and in populations living at high altitudes

    Convergent genetic adaptation in human tumors developed under systemic hypoxia and in populations living at high altitudes por Carlota Arenillas, José Ruiz-Cantador, Lucía Celada, Bruna Calsina, Eduardo García‐Galea, Debayan Datta, Roberta Fasani, Ana Belén Moreno-Cárdenas, Juan José Alba‐Linares, Berta Miranda, Ángel M. Martínez‐Montes, Cristina Álvarez‐Escolá, Beatriz Lecumberri, Elvira Ana González García, Shahida K. Flores, Emmanuel Esquivel, Yanli Ding, Rita Maria Regojo Zapata, José Juan Pozo‐Kreilinger, Carmela Iglesias, Trisha Dwight, Christopher A. Muir, Amelia Oleaga Alday, Maria Elvira Garrido-Lestache Rodríguez-Monte, María Jesús del Cerro, Isaac Martínez-Bendayán, Delmar Muniz Lourenço, Maria Adelaide A. Pereira, Nelly Burnichon, Alexandre Buffet, Craig S. Broberg, Paxton V. Dickson, Mario F. Fraga, José Luís Llorente, Joaquín Rueda Soriano, Francisco Buendía Fuentes, S. P. A. Toledo, Roderick Clifton‐Bligh, Rodrigo Dienstmann, Jaume Capdevila, Anne‐Paule Gimenez‐Roqueplo, Judith Favier, Donate Weghorn, Paolo Nucíforo, William Young, Alexander R. Opotowsky, Anand Vaidya, Irina Bancos, Mercedes Robledo, Anna Casteràs, Laura Dos, María‐Dolores Chiara, Igor Adameyko, Patricia L. M. Dahia, Rodrigo A. Toledo

    Publicado 2024
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  19. 19
    Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes

    Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes por Carlota Arenillas, Lucía Celada, José Ruiz-Cantador, Bruna Calsina, Debayan Datta, Eduardo García‐Galea, Roberta Fasani, Ana Belén Moreno-Cárdenas, Juan José Alba‐Linares, Berta Miranda, Ángel M. Martínez‐Montes, Cristina Álvarez-Escolá, Beatriz Lecumberri, Ana González García, Shahida K. Flores, Emmanuel Esquivel, Yanli Ding, Mirko Peitzsch, José-Ángel Robles-Guirado, Rita Maria Regojo Zapata, José Juan Pozo‐Kreilinger, Carmela Iglesias, Trisha Dwight, Christopher A. Muir, Amelia Oleaga, Elvira Garrido‐Lestache, María Jesús del Cerro Marín, Isaac Martínez-Bendayán, Enol Álvarez-González, Tamara Cubiella, Delmar Muniz Lourenço, Maria Adelaide Albergaria Pereira, Nelly Burnichon, Alexandre Buffet, Craig S. Broberg, Paxton V. Dickson, Mario F. Fraga, José Luís Llorente, Joaquín Rueda Soriano, Francisco Buendía Fuentes, S. P. A. Toledo, Roderick Clifton‐Bligh, Rodrigo Dienstmann, Josep Villanueva, Jaume Capdevila, Anne‐Paule Gimenez‐Roqueplo, Judith Favier, Paolo Nucíforo, William F. Young, Nicole Bechmann, Alexander R. Opotowsky, Anand Vaidya, Irina Bancos, Donate Weghorn, Mercedes Robledo, Anna Casteràs, Laura Dos, Igor Adameyko, María‐Dolores Chiara, Patricia L. M. Dahia, Rodrigo A. Toledo

    Publicado 2025
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