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	101.	Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia. [electronic resource] by Ladroue, Charline Hoogewijs, David Gad, Sophie Carcenac, Romain Storti, Federica Barrois, Michel Gimenez-Roqueplo, Anne-Paule Leporrier, Michel Casadevall, Nicole Hermine, Olivier Kiladjian, Jean-Jacques Baruchel, André Fakhoury, Fadi Bressac-de Paillerets, Brigitte Feunteun, Jean Mazure, Nathalie Pouysségur, Jacques Wenger, Roland H Richard, Stéphane Gardie, Betty Producer: 20120501 In: Haematologica vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	102.	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. [electronic resource] by Pasini, Barbara McWhinney, Sarah R Bei, Thalia Matyakhina, Ludmila Stergiopoulos, Sotirios Muchow, Michael Boikos, Sosipatros A Ferrando, Barbara Pacak, Karel Assie, Guillaume Baudin, Eric Chompret, Agnes Ellison, Jay W Briere, Jean-Jacques Rustin, Pierre Gimenez-Roqueplo, Anne-Paule Eng, Charis Carney, J Aidan Stratakis, Constantine A Producer: 20080212 In: European journal of human genetics : EJHG vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	103.	Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas. [electronic resource] by Toledo, Rodrigo A Burnichon, Nelly Cascon, Alberto Benn, Diana E Bayley, Jean-Pierre Welander, Jenny Tops, Carli M Firth, Helen Dwight, Trish Ercolino, Tonino Mannelli, Massimo Opocher, Giuseppe Clifton-Bligh, Roderick Gimm, Oliver Maher, Eamonn R Robledo, Mercedes Gimenez-Roqueplo, Anne-Paule Dahia, Patricia L M Producer: 20170703 In: Nature reviews. Endocrinology vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	104.	Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators. [electronic resource] by Gimenez-Roqueplo, Anne-Paule Caumont-Prim, Aurore Houzard, Claire Hignette, Chantal Hernigou, Anne Halimi, Philippe Niccoli, Patricia Leboulleux, Sophie Amar, Laurence Borson-Chazot, Françoise Cardot-Bauters, Catherine Delemer, Brigitte Chabolle, Frédéric Coupier, Isabelle Libé, Rossella Peitzsch, Mirko Peyrard, Séverine Tenenbaum, Florence Plouin, Pierre-François Chatellier, Gilles Rohmer, Vincent Producer: 20130307 In: The Journal of clinical endocrinology and metabolism vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	105.	A call to action and a lifecourse strategy to address the global burden of raised blood pressure on current and future generations: the Lancet Commission on hypertension. [electronic resource] by Olsen, Michael H Angell, Sonia Y Asma, Samira Boutouyrie, Pierre Burger, Dylan Chirinos, Julio A Damasceno, Albertino Delles, Christian Gimenez-Roqueplo, Anne-Paule Hering, Dagmara López-Jaramillo, Patricio Martinez, Fernando Perkovic, Vlado Rietzschel, Ernst R Schillaci, Giuseppe Schutte, Aletta E Scuteri, Angelo Sharman, James E Wachtell, Kristian Wang, Ji Guang Producer: 20170620 In: Lancet (London, England) vol. 388 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	106.	Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers. [electronic resource] by Lebeault, Maylis Pinson, Stéphane Guillaud-Bataille, Marine Gimenez-Roqueplo, Anne-Paule Carrie, Alain Barbu, Véronique Pigny, Pascal Bezieau, Stéphane Rey, Jean-Marc Delvincourt, Chantal Giraud, Sophie Veyrat-Durebex, Charlotte Saulnier, Patrick Bouzamondo, Nathalie Chabbert, Marie Blin, Julien Mohamed, Amira Romanet, Pauline Borson-Chazot, Francoise Rohmer, Vincent Barlier, Anne Mirebeau-Prunier, Delphine Producer: 20180723 In: Thyroid : official journal of the American Thyroid Association vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	107.	SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. [electronic resource] by Korpershoek, Esther Favier, Judith Gaal, José Burnichon, Nelly van Gessel, Bram Oudijk, Lindsey Badoual, Cécile Gadessaud, Noémie Venisse, Annabelle Bayley, Jean-Pierre van Dooren, Marieke F de Herder, Wouter W Tissier, Frédérique Plouin, Pierre-François van Nederveen, Francien H Dinjens, Winand N M Gimenez-Roqueplo, Anne-Paule de Krijger, Ronald R Producer: 20111123 In: The Journal of clinical endocrinology and metabolism vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	108.	A germline mutation in PBRM1 predisposes to renal cell carcinoma. [electronic resource] by Benusiglio, Patrick R Couvé, Sophie Gilbert-Dussardier, Brigitte Deveaux, Sophie Le Jeune, Hélène Da Costa, Mélanie Fromont, Gaëlle Memeteau, Françoise Yacoub, Mokrane Coupier, Isabelle Leroux, Dominique Méjean, Arnaud Escudier, Bernard Giraud, Sophie Gimenez-Roqueplo, Anne-Paule Blondel, Christophe Frouin, Eric Teh, Bin T Ferlicot, Sophie Bressac-de Paillerets, Brigitte Richard, Stéphane Gad, Sophie Producer: 20160224 In: Journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	109.	Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. [electronic resource] by Benn, Diana E Gimenez-Roqueplo, Anne-Paule Reilly, Jennifer R Bertherat, Jérôme Burgess, John Byth, Karen Croxson, Michael Dahia, Patricia L M Elston, Marianne Gimm, Oliver Henley, David Herman, Philippe Murday, Victoria Niccoli-Sire, Patricia Pasieka, Janice L Rohmer, Vincent Tucker, Kathy Jeunemaitre, Xavier Marsh, Deborah J Plouin, Pierre-François Robinson, Bruce G Producer: 20060607 In: The Journal of clinical endocrinology and metabolism vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	110.	Spectrum of mutations in Gitelman syndrome. [electronic resource] by Vargas-Poussou, Rosa Dahan, Karin Kahila, Diana Venisse, Annabelle Riveira-Munoz, Eva Debaix, Huguette Grisart, Bernard Bridoux, Franck Unwin, Robert Moulin, Bruno Haymann, Jean-Philippe Vantyghem, Marie-Christine Rigothier, Claire Dussol, Bertrand Godin, Michel Nivet, Hubert Dubourg, Laurence Tack, Ivan Gimenez-Roqueplo, Anne-Paule Houillier, Pascal Blanchard, Anne Devuyst, Olivier Jeunemaitre, Xavier Producer: 20110526 In: Journal of the American Society of Nephrology : JASN vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	111.	p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation? [electronic resource] by Nozières, Cecile Zhang, Chang-Xian Buffet, Alexandre Dupasquier, Stéphanie Vargas-Poussou, Rosa Guillaud-Bataille, Marine Cordier-Bussat, Martine Ruszniewski, Philippe Christin-Maitre, Sophie Murat, Arnaud Groussin, Lionel Vezzosi, Delphine Cardot-Bauters, Catherine Hervieu, Valérie Joly, Marie-Odile Giraud, Sophie Odou, Marie-Françoise Gimenez-Roqueplo, Anne-Paule Goudet, Pierre Borson-Chazot, Françoise Calender, Alain Producer: 20150410 In: Annales d'endocrinologie vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	112.	DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers. [electronic resource] by de Cubas, Aguirre A Korpershoek, Esther Inglada-Pérez, Lucia Letouzé, Eric Currás-Freixes, Maria Fernández, Agustin F Comino-Méndez, Iñaki Schiavi, Francesca Mancikova, Veronika Eisenhofer, Graeme Mannelli, Massimo Opocher, Guiseppe Timmers, Henri Beuschlein, Felix de Krijger, Ronald Cascon, Alberto Rodríguez-Antona, Cristina Fraga, Mario F Favier, Judith Gimenez-Roqueplo, Anne-Paule Robledo, Mercedes Producer: 20160419 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	113.	Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas. [electronic resource] by Castro-Vega, Luis Jaime Letouzé, Eric Burnichon, Nelly Buffet, Alexandre Disderot, Pierre-Hélie Khalifa, Emmanuel Loriot, Céline Elarouci, Nabila Morin, Aurélie Menara, Mélanie Lepoutre-Lussey, Charlotte Badoual, Cécile Sibony, Mathilde Dousset, Bertrand Libé, Rossella Zinzindohoue, Franck Plouin, Pierre François Bertherat, Jérôme Amar, Laurence de Reyniès, Aurélien Favier, Judith Gimenez-Roqueplo, Anne-Paule Producer: 20160202 In: Nature communications vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	114.	One-year progression-free survival of therapy-naive patients with malignant pheochromocytoma and paraganglioma. [electronic resource] by Hescot, Ségolène Leboulleux, Sophie Amar, Laurence Vezzosi, Delphine Borget, Isabelle Bournaud-Salinas, Claire de la Fouchardiere, Christelle Libé, Rossella Do Cao, Christine Niccoli, Patricia Tabarin, Antoine Raingeard, Isabelle Chougnet, Cécile Giraud, Sophie Gimenez-Roqueplo, Anne-Paule Young, Jacques Borson-Chazot, Francoise Bertherat, Jérôme Wemeau, Jean-Louis Bertagna, Xavier Plouin, Pierre-Francois Schlumberger, Martin Baudin, Eric Producer: 20131210 In: The Journal of clinical endocrinology and metabolism vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	115.	Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. [electronic resource] by Castro-Vega, Luis Jaime Buffet, Alexandre De Cubas, Aguirre A Cascón, Alberto Menara, Mélanie Khalifa, Emmanuel Amar, Laurence Azriel, Sharona Bourdeau, Isabelle Chabre, Olivier Currás-Freixes, Maria Franco-Vidal, Valérie Guillaud-Bataille, Marine Simian, Christophe Morin, Aurélie Letón, Rocío Gómez-Graña, Alvaro Pollard, Patrick J Rustin, Pierre Robledo, Mercedes Favier, Judith Gimenez-Roqueplo, Anne-Paule Producer: 20141217 In: Human molecular genetics vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	116.	Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. [electronic resource] by Boedeker, Carsten C Erlic, Zoran Richard, Stéphane Kontny, Udo Gimenez-Roqueplo, Anne-Paule Cascon, Alberto Robledo, Mercedes de Campos, José M van Nederveen, Francien H de Krijger, Ronald R Burnichon, Nelly Gaal, José Walter, Martin A Reschke, Kirsten Wiech, Thorsten Weber, Johannes Rückauer, Klaus Plouin, Pierre Francois Darrouzet, Vincent Giraud, Sophie Eng, Charis Neumann, Hartmut P H Producer: 20090702 In: The Journal of clinical endocrinology and metabolism vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	117.	Germline mutations in the new E1' cryptic exon of the [electronic resource] by Buffet, Alexandre Calsina, Bruna Flores, Shahida Giraud, Sophie Lenglet, Marion Romanet, Pauline Deflorenne, Elisa Aller, Javier Bourdeau, Isabelle Bressac-de Paillerets, Brigitte Calatayud, María Dehais, Caroline De Mones Del Pujol, Erwan Elenkova, Atanaska Herman, Philippe Kamenický, Peter Lejeune, Sophie Sadoul, Jean Louis Barlier, Anne Richard, Stephane Favier, Judith Burnichon, Nelly Gardie, Betty Dahia, Patricia L Robledo, Mercedes Gimenez-Roqueplo, Anne-Paule Producer: 20210708 In: Journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	118.	Functional and in silico assessment of MAX variants of unknown significance. [electronic resource] by Comino-Méndez, Iñaki Leandro-García, Luis J Montoya, Guillermo Inglada-Pérez, Lucía de Cubas, Aguirre A Currás-Freixes, María Tysoe, Carolyn Izatt, Louise Letón, Rocío Gómez-Graña, Álvaro Mancikova, Veronika Apellániz-Ruiz, María Mannelli, Massimo Schiavi, Francesca Favier, Judith Gimenez-Roqueplo, Anne-Paule Timmers, Henri J L M Roncador, Giovanna Garcia, Juan F Rodríguez-Antona, Cristina Robledo, Mercedes Cascón, Alberto Producer: 20160826 In: Journal of molecular medicine (Berlin, Germany) vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	119.	Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. [electronic resource] by Couvé, Sophie Ladroue, Charline Laine, Elodie Mahtouk, Karène Guégan, Justine Gad, Sophie Le Jeune, Hélène Le Gentil, Marion Nuel, Gregory Kim, William Y Lecomte, Bernard Pagès, Jean-Christophe Collin, Christine Lasne, Françoise Benusiglio, Patrick R Bressac-de Paillerets, Brigitte Feunteun, Jean Lazar, Vladimir Gimenez-Roqueplo, Anne-Paule Mazure, Nathalie M Dessen, Philippe Tchertanov, Luba Mole, David R Kaelin, William Ratcliffe, Peter Richard, Stéphane Gardie, Betty Producer: 20150708 In: Cancer research vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	120.	Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma. [electronic resource] by Fishbein, Lauren Leshchiner, Ignaty Walter, Vonn Danilova, Ludmila Robertson, A Gordon Johnson, Amy R Lichtenberg, Tara M Murray, Bradley A Ghayee, Hans K Else, Tobias Ling, Shiyun Jefferys, Stuart R de Cubas, Aguirre A Wenz, Brandon Korpershoek, Esther Amelio, Antonio L Makowski, Liza Rathmell, W Kimryn Gimenez-Roqueplo, Anne-Paule Giordano, Thomas J Asa, Sylvia L Tischler, Arthur S Pacak, Karel Nathanson, Katherine L Wilkerson, Matthew D Producer: 20170608 In: Cancer cell vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 133 results.