Canlyniadau Chwilio - Nelly Burnichon

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  1. 1
    Pheochromocytoma and paraganglioma

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

    Cyhoeddwyd 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 gan Alexandre Buffet, Nelly Burnichon, Judith Favier, Anne‐Paule Gimenez‐Roqueplo

    Cyhoeddwyd 2020
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  3. 3
    Unsuspected task for an old team: Succinate, fumarate and other Krebs cycle acids in metabolic remodeling

    Unsuspected task for an old team: Succinate, fumarate and other Krebs cycle acids in metabolic remodeling gan Paule Bénit, Éric Letouzé, Malgorzata Rak, Laëtitia Aubry, Nelly Burnichon, Judith Favier, Anne‐Paule Gimenez‐Roqueplo, Pierre Rustin

    Cyhoeddwyd 2014
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  4. 4
    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

    Carbonic anhydrase 9 immunohistochemistry as a tool to predict or validate germline and somatic VHL mutations in pheochromocytoma and paraganglioma—a retrospective and prospective... gan Judith Favier, Tchao Méatchi, Estelle Robidel, Cécile Badoual, Mathilde Sibony, An Thach Nguyen, Anne‐Paule Gimenez‐Roqueplo, Nelly Burnichon

    Cyhoeddwyd 2019
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  5. 5
    Identity by Descent Mapping of Founder Mutations in Cancer Using High-Resolution Tumor SNP Data

    Identity by Descent Mapping of Founder Mutations in Cancer Using High-Resolution Tumor SNP Data gan Éric Letouzé, Aliou Sow, Fabien Petel, Roberto Rosati, Bonald C. Figueiredo, Nelly Burnichon, Anne‐Paule Gimenez‐Roqueplo, Enzo Lalli, Aurélien de Reyniès

    Cyhoeddwyd 2012
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  6. 6
    Epithelial to Mesenchymal Transition Is Activated in Metastatic Pheochromocytomas and Paragangliomas Caused by SDHB Gene Mutations

    Epithelial to Mesenchymal Transition Is Activated in Metastatic Pheochromocytomas and Paragangliomas Caused by SDHB Gene Mutations gan Céline Loriot, Nelly Burnichon, Noémie Gadessaud, Laure Vescovo, Laurence Amar, Rossella Libé, Jérôme Bertherat, Pierre‐François Plouin, Xavier Jeunemaı̂tre, Anne‐Paule Gimenez‐Roqueplo, Judith Favier

    Cyhoeddwyd 2012
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  7. 7
    Isocitrate Dehydrogenase Mutations Are Rare in Pheochromocytomas and Paragangliomas

    Isocitrate Dehydrogenase Mutations Are Rare in Pheochromocytomas and Paragangliomas gan José Gaal, Nelly Burnichon, Esther Korpershoek, Isabelle Roncelin, Jérôme Bertherat, Pierre‐François Plouin, Ronald R. de Krijger, Anne‐Paule Gimenez‐Roqueplo, Winand N.M. Dinjens

    Cyhoeddwyd 2009
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  8. 8
    Penetrance and clinical consequences of a gross <i>SDHB </i>deletion in a large family

    Penetrance and clinical consequences of a gross <i>SDHB </i>deletion in a large family gan D. Solis, Nelly Burnichon, Henri Timmers, Margarita Raygada, Anna Kozupa, Maria J. Merino, Dayanand Makey, Karen T. Adams, Annabelle Vénisse, Anne‐Paule Gimenez‐Roqueplo, Karel Pacák

    Cyhoeddwyd 2009
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  9. 9
    Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1

    Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1 gan Aurélien Morini, Tom Drossart, Marc‐Olivier Timsit, Mathilde Sibony, Viorel Vasiliu, Anne‐Paule Gimenez‐Roqueplo, Judith Favier, Cécile Badoual, Arnaud Méjean, Nelly Burnichon, Virginie Verkarre

    Cyhoeddwyd 2021
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  10. 10
    [The pituitary and hormonal calcium regulation system].

    [The pituitary and hormonal calcium regulation system]. gan Laure Cazabat, Rossella Libé, Karine Perlemoine, Fernande René-Corail, Nelly Burnichon, Anne‐Paule Gimenez‐Roqueplo, Laurence Dupasquier-Fediaevsky, Xavier Bertagna, Éric Clauser, Philippe Chanson, Jérôme Bertherat, Marie‐Laure Raffin‐Sanson

    Cyhoeddwyd 1971
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  11. 11
    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

    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 patient... gan Laure Cazabat, Rossella Libé, Karine Perlemoine, Fernande René-Corail, Nelly Burnichon, Anne‐Paule Gimenez‐Roqueplo, Laurence Dupasquier-Fediaevsky, Xavier Bertagna, Éric Clauser, Philippe Chanson, Jérôme Bertherat, Marie‐Laure Raffin‐Sanson

    Cyhoeddwyd 2007
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  12. 12
    Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

    Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma gan 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

    Cyhoeddwyd 2012
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  13. 13
    SDHA is a tumor suppressor gene causing paraganglioma

    SDHA is a tumor suppressor gene causing paraganglioma gan Nelly Burnichon, Jean-Jacques Brière, Rossella Libé, Laure Vescovo, Julie Rivière, Frédérique Tissier, Elodie Jouanno, Xavier Jeunemaı̂tre, Paule Bénit, Alexander Tzagoloff, Pierre Rustin, Jérôme Bertherat, Judith Favier, Anne‐Paule Gimenez‐Roqueplo

    Cyhoeddwyd 2010
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  14. 14
    Distribution ofENG andACVRL1 (ALK1) mutations in French HHT patients

    Distribution ofENG andACVRL1 (ALK1) mutations in French HHT patients gan Gaëtan Lesca, Nelly Burnichon, Grégory Raux, Mario Tosi, S. Pinson, Marie‐Jeanne Marion, E. Babin, Brigitte Gilbert‐Dussardier, Sophie Rivière, Cyril Goizet, Laurence Faivre, Henri Plauchu, Thierry Frébourg, Alain Calender, Sophie Giraud

    Cyhoeddwyd 2006
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  15. 15
    <i>TMEM127</i>Screening in a Large Cohort of Patients with Pheochromocytoma and/or Paraganglioma

    <i>TMEM127</i>Screening in a Large Cohort of Patients with Pheochromocytoma and/or Paraganglioma gan Nasséra Abermil, Marine Guillaud-Bataille, Nelly Burnichon, Annabelle Vénisse, Philippe Manivet, Laurence Guignat, D. Drui, M Chupin, C. Josseaume, Hélène Affres, Pierre‐François Plouin, Jérôme Bertherat, Xavier Jeunemaı̂tre, Anne‐Paule Gimenez‐Roqueplo

    Cyhoeddwyd 2012
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  16. 16
    Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma

    Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma gan Nelly Burnichon, Laure Vescovo, Laurence Amar, Rossella Libé, Aurélien de Reyniès, Annabelle Vénisse, Elodie Jouanno, Ingrid Laurendeau, Béatrice Parfait, Jérôme Bertherat, Pierre‐François Plouin, Xavier Jeunemaı̂tre, Judith Favier, Anne‐Paule Gimenez‐Roqueplo

    Cyhoeddwyd 2011
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  17. 17
    SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma

    SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma gan 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

    Cyhoeddwyd 2013
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  18. 18
    Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network

    Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network gan Gaëtan Lesca, Carla Olivieri, Nelly Burnichon, Fabio Pagella, Marie‐France Carette, Brigitte Gilbert‐Dussardier, Cyril Goizet, J. Roume, Muriel Rabilloud, Jean‐Christophe Saurin, Vincent Cottin, Jérôme Honnorat, Florence Coulet, Sophie Giraud, Alain Calender, Cesare Danesino, Elisabetta Buscarini, Henri Plauchu

    Cyhoeddwyd 2007
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  19. 19
    The Warburg Effect Is Genetically Determined in Inherited Pheochromocytomas

    The Warburg Effect Is Genetically Determined in Inherited Pheochromocytomas gan Judith Favier, Jean-Jacques Brière, Nelly Burnichon, Julie Rivière, Laure Vescovo, Paule Bénit, Isabelle Giscos-Douriez, Aurélien de Reyniès, Jérôme Bertherat, Cécile Badoual, Frédérique Tissier, Laurence Amar, Rossella Libé, Pierre‐François Plouin, Xavier Jeunemaı̂tre, Pierre Rustin, Anne‐Paule Gimenez‐Roqueplo

    Cyhoeddwyd 2009
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    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 gan 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

    Cyhoeddwyd 2018
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