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Anne-Paule Gimenez-Roqueplo

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Anne-Paule Gimenez-Roqueplo; Philippe Halimi; Anne Hernigou; Chantal Hignette; Claire Houzard; sophie leboulleux; Rossella Libé; P Niccoli; Mirko Peitzsch; Séverine Peyrard; Pierre-François Plouin; Laurence Amar; Françoise Borson-Chazot; Catherine Cardot-Bauters; Aurore Caumont-Prim; Frédéric Chabolle; Gilles Chatellier; Isabelle Coupier; Brigitte Delemer; Florence Tenenbaum; Vincent Rohmer
Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators.
Nelly Burnichon; Judith Favier; Nasséra Abermil; Laurence Amar; Jérôme Bertherat; Alexandre Buffet; Ingrid Laurendeau; Eric Letouzé; Céline Loriot; Béatrice Parfait; Eric Pasmant; Laurence Valeyrie-Allanore; Dominique Vidaud; Anne-Paule Gimenez-Roqueplo
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.
Judith Favier; Alexandre Buffet; Anne-Paule Gimenez-Roqueplo
HIF2A mutations in paraganglioma with polycythemia.

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2013: Anne-Paule Gimenez-Roqueplo; Philippe Halimi; Anne Hernigou; Chantal Hignette; Claire Houzard; sophie leboulleux; Rossella Libé; P Niccoli; Mirko Peitzsch; Séverine Peyrard; Pierre-François Plouin; Laurence Amar; Françoise Borson-Chazot; Catherine Cardot-Bauters; Aurore Caumont-Prim; Frédéric Chabolle; Gilles Chatellier; Isabelle Coupier; Brigitte Delemer; Florence Tenenbaum; Vincent Rohmer
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 2013;98(1):E162-73.
2012: Nelly Burnichon; Judith Favier; Nasséra Abermil; Laurence Amar; Jérôme Bertherat; Alexandre Buffet; Ingrid Laurendeau; Eric Letouzé; Céline Loriot; Béatrice Parfait; Eric Pasmant; Laurence Valeyrie-Allanore; Dominique Vidaud; Anne-Paule Gimenez-Roqueplo
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.
Human molecular genetics 2012;21(26):5397-405.
2012: Judith Favier; Alexandre Buffet; Anne-Paule Gimenez-Roqueplo
HIF2A mutations in paraganglioma with polycythemia.
The New England journal of medicine 2012;367(22):2161; author reply 2161-2.
2012: Judith Favier; Anne-Paule Gimenez-Roqueplo
[Genetics of paragangliomas and pheochromocytomas].
Médecine sciences : M/S 2012;28(6-7):625-32.
2012: Céline Loriot; Pierre-François Plouin; Laure Vescovo; Laurence Amar; Jérôme Bertherat; Nelly Burnichon; Noémie Gadessaud; Anne-Paule Gimenez-Roqueplo; Xavier Jeunemaitre; Rossella Libé; Judith Favier
Epithelial to mesenchymal transition is activated in metastatic pheochromocytomas and paragangliomas caused by SDHB gene mutations.
The Journal of clinical endocrinology and metabolism 2012;97(6):E954-62.
2012: A Buffet; Nelly Burnichon; Judith Favier; Xavier Jeunemaitre; N Le Pottier; V Nau; I Roncellin; C Simian; C Travers; A Venisse; N Abermil; V Boccio; M Boussion; Anne-Paule Gimenez-Roqueplo
A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 2012;44(5):359-66.
2012: Khadija Lahlou-Laforêt; Xavier Jeunemaitre; S M Consoli; Anne-Paule Gimenez-Roqueplo
Presymptomatic genetic testing in minors at risk of paraganglioma and pheochromocytoma: our experience of oncogenetic multidisciplinary consultation.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 2012;44(5):354-8.
2012: Nassera Abermil; Hélène Affres; Jérôme Bertherat; Nelly Burnichon; Maurice Chupin; Delphine Drui; Laurence Guignat; Marine Guillaud-Bataille; Xavier Jeunemaître; Claire Josseaume; Philippe Manivet; Pierre-François Plouin; Annabelle Venisse; Anne-Paule Gimenez-Roqueplo
TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma.
The Journal of clinical endocrinology and metabolism 2012;97(5):E805-9.
2012: Anne-Paule Gimenez-Roqueplo; Patricia Dahia; M Robledo
An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 2012;44(5):328-33.
2012: Anne-Paule Gimenez-Roqueplo; Arthur S Tischler
Pheochromocytoma and Paraganglioma: progress on all fronts.
Endocrine pathology 2012;23(1):1-3.
2012: Judith Favier; Laurence Amar; Cécile Badoual; Jérôme Bertherat; Nelly Burnichon; Peter Igaz; Xavier Jeunemaitre; Rossella Libé; Pierre-François Plouin; Frédérique Tissier; Anne-Paule Gimenez-Roqueplo
Rationale for anti-angiogenic therapy in pheochromocytoma and paraganglioma.
Endocrine pathology 2012;23(1):34-42.
2012: Eric Letouzé; Fabien Petel; Roberto Rosati; Aliou Sow; Nelly Burnichon; Bonald C Figueiredo; Anne-Paule Gimenez-Roqueplo; Enzo Lalli; Aurélien de Reyniès
Identity by descent mapping of founder mutations in cancer using high-resolution tumor SNP data.
PloS one 2012;7(5):e35897.
2011: Kathryn S King; Maya Lodish; Shana McCormack; Dragana Milosevic; Graeme Eisenhofer; Tito Fojo; Anne-Paule Gimenez-Roqueplo; Jacqueline K Hewitt; Vitaly Kantorovich; Electron Kebebew; Tamara Prodanov; Margarita Raygada; Constantine A Stratakis; Robert Wesley; Margaret Zacharin; Karel Pacak
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 2011;29(31):4137-42.
2011: Nelly Burnichon; Aurélien de Reynies; Judith Favier; Laurence Amar; Jérôme Bertherat; Xavier Jeunemaitre; Elodie Jouanno; Ingrid Laurendeau; Rossella Libé; Béatrice Parfait; Pierre-François Plouin; Annabelle Venisse; Laure Vescovo; Anne-Paule Gimenez-Roqueplo
Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma.
Human molecular genetics 2011;20(20):3974-85.
2011: Esther Korpershoek; Lindsey Oudijk; Pierre-François Plouin; Frédérique Tissier; Marieke F van Dooren; Bram van Gessel; Francien H van Nederveen; Annabelle Venisse; Cécile Badoual; Jean-Pierre Bayley; Nelly Burnichon; Wouter W de Herder; Winand N M Dinjens; Judith Favier; José Gaal; Noémie Gadessaud; Anne-Paule Gimenez-Roqueplo; Ronald R de Krijger
SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.
The Journal of clinical endocrinology and metabolism 2011;96(9):E1472-6.
2011: Rosa Vargas-Poussou; Karin Dahan; DIANA DESIR-PARSEILLE; Annabelle Venisse; Eva Riveira-Munoz; Huguette Debaix; Bernard Grisart; Franck Bridoux; Robert Unwin; Bruno Moulin; Jean-Philippe Haymann; Marie-Christine Vantyghem; Claire Rigothier; Bertrand Dussol; Michel Godin; Hubert Nivet; Laurence Dubourg; Ivan Tack; Anne-Paule Gimenez-Roqueplo; Pascal Houillier; Anne BLANCHARD; Olivier Devuyst; Xavier Jeunemaitre
Spectrum of mutations in Gitelman syndrome.
Journal of the American Society of Nephrology : JASN 2011;22(4):693-703.
2010: Judith Favier; Anne-Paule Gimenez-Roqueplo
Pheochromocytomas: the (pseudo)-hypoxia hypothesis.
Best practice & research. Clinical endocrinology & metabolism 2010;24(6):957-68.
2010: Sébastien Gaujoux; Stéphane Pinson; Anne-Paule Gimenez-Roqueplo; Laurence Amar; Bruno Ragazzon; Pierre Launay; Tchao Meatchi; Rossella Libé; Xavier Bertagna; Anne Audebourg; Jessica Zucman-Rossi; Frédérique Tissier; Jérôme Bertherat
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 2010;16(21):5133-41.
2010: Nelly Burnichon; Jean-Jacques Brière; Rossella Libé; Laure Vescovo; Julie Rivière; Frédérique Tissier; Elodie Jouanno; Xavier Jeunemaitre; Paule Bénit; Alexander Tzagoloff; Pierre Rustin; Jérôme Bertherat; Judith Favier; Anne-Paule Gimenez-Roqueplo
SDHA is a tumor suppressor gene causing paraganglioma.
Human molecular genetics 2010;19(15):3011-20.
2010: 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
Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas.
The Journal of clinical endocrinology and metabolism 2010;95(3):1274-8.
2010: Sergio Goncalves; Vincent Paupe; Emmanuel P Dassa; Jean-Jacques Brière; Judith Favier; Anne-Paule Gimenez-Roqueplo; Paule Bénit; Pierre Rustin
Rapid determination of tricarboxylic acid cycle enzyme activities in biological samples.
BMC biochemistry 2010;11():5.
2009: Jean-Paul Richalet; Anne-Paule Gimenez-Roqueplo; Séverine Peyrard; Annabelle Vénisse; Laure Marelle; Nelly Burnichon; Anissa Bouzamondo; Xavier Jeunemaitre; Michel Azizi; Jean-Luc Elghozi
A role for succinate dehydrogenase genes in low chemoresponsiveness to hypoxia?
Clinical autonomic research : official journal of the Clinical Autonomic Research Society 2009;19(6):335-42.
2009: Nelly Burnichon; Vincent Rohmer; Laurence Amar; Philippe Herman; sophie leboulleux; Vincent Darrouzet; Patricia Niccoli; Dominique Gaillard; Gérard Chabrier; Frédéric Chabolle; Isabelle Coupier; Philippe Thieblot; Pierre Lecomte; Jérôme Bertherat; Nelly Wion-Barbot; Arnaud Murat; Annabelle Venisse; Pierre-François Plouin; Xavier Jeunemaitre; Anne-Paule Gimenez-Roqueplo
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.
The Journal of clinical endocrinology and metabolism 2009;94(8):2817-27.
2009: Carsten Christof Boedeker; Zoran Erlic; Stéphane Richard; Udo Kontny; Anne-Paule Gimenez-Roqueplo; Alberto Cascon; Mercedes Robledo; José M de Campos; Francien H van Nederveen; Ronald R de Krijger; Nelly Burnichon; José Gaal; Martin A Walter; Kirsten Reschke; Thorsten Wiech; Johannes Weber; Klaus Dieter Rückauer; Pierre Francois Plouin; Vincent Darrouzet; Sophie Giraud; Charis Eng; Hartmut P H Neumann
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.
The Journal of clinical endocrinology and metabolism 2009;94(6):1938-44.
2009: Henri J L M Timmers; Anne-Paule Gimenez-Roqueplo; Massimo Mannelli; Karel Pacak
Clinical aspects of SDHx-related pheochromocytoma and paraganglioma.
Endocrine-related cancer 2009;16(2):391-400.
2009: Alberto Cascón; Guillermo Pita; Nelly Burnichon; Iñigo Landa; Elena López-Jiménez; Cristina Montero-Conde; Susanna Leskelä; Luis Javier Leandro-García; Rocío Letón; Cristina Rodríguez-Antona; José Angel Díaz; Emilio López-Vidriero; Anna González-Neira; ANA VELASCO; Xavier Matias-Guiu; Anne-Paule Gimenez-Roqueplo; Mercedes Robledo
Genetics of pheochromocytoma and paraganglioma in Spanish patients.
The Journal of clinical endocrinology and metabolism 2009;94(5):1701-5.
2009: Judith Favier; Jean-Jacques Brière; Nelly Burnichon; Julie Rivière; Laure Vescovo; Paule Benit; Isabelle Giscos-Douriez; Aurélien de Reyniès; Jérôme Bertherat; Cécile Badoual; Frédérique Tissier; Laurence Amar; Rosella Libé; Pierre-François Plouin; Xavier Jeunemaitre; Pierre Rustin; Anne-Paule Gimenez-Roqueplo
The Warburg effect is genetically determined in inherited pheochromocytomas.
PloS one 2009;4(9):e7094.
2008: Anne-Paule Gimenez-Roqueplo; Nelly Burnichon; Laurence Amar; Judith Favier; Xavier Jeunemaitre; Pierre-François Plouin
Recent advances in the genetics of phaeochromocytoma and functional paraganglioma.
Clinical and experimental pharmacology & physiology 2008;35(4):376-9.
2008: Henri J L M Timmers; Karel Pacak; Jérôme Bertherat; Jacques W M Lenders; Michèle Duet; Graeme Eisenhofer; Constantine Straturis; Patricia Niccoli-Sire; Ba Huy Patrice Tran; Nelly Burnichon; Anne-Paule Gimenez-Roqueplo
Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.
Clinical endocrinology 2008;68(4):561-6.
2008: Anne-Paule Gimenez-Roqueplo; Nelly Burnichon; Laurence Amar; Judith Favier; Xavier Jeunemaitre; Pierre-François Plouin
[Achievements of the COMETE program in the genetics of pheochromocytoma].
Bulletin de l'Académie nationale de médecine 2008;192(1):105-15; discussion 115-6.
2008: Pierre-François Plouin; Anne-Paule Gimenez-Roqueplo; Xavier Bertagna
[COMETE, a network for the study and management of hypersecreting adrenal tumors].
Bulletin de l'Académie nationale de médecine 2008;192(1):73-82; discussion 83-5.
2008: Barbara Pasini; Sarah R McWhinney; Thalia Bei; Ludmila Matyakhina; Sotirios Stergiopoulos; michael muchow; Sosipatros Boikos; Barbara Ferrando; Karel Pacak; Guillaume Assie; Eric Baudin; Agnès Chompret; Jay W Ellison; Jean-Jacques Briere; Pierre Rustin; Anne-Paule Gimenez-Roqueplo; Charis Eng; J Aidan Carney; Constantine Straturis
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 2008;16(1):79-88.
2007: Erwan Thouennon; Abdel G Elkahloun; Johann Guillemot; Anne-Paule Gimenez-Roqueplo; Jérôme Bertherat; Alice Pierre; Hafida Ghzili; Luca Grumolato; Mihaela Muresan; Marc Klein; Hervé Lefebvre; L'Houcine Ouafik; Hubert Vaudry; Pierre-François Plouin; Laurent Yon; Youssef Anouar
Identification of potential gene markers and insights into the pathophysiology of pheochromocytoma malignancy.
The Journal of clinical endocrinology and metabolism 2007;92(12):4865-72.
2007: Laurence Amar; Eric Baudin; Nelly Burnichon; Séverine Peyrard; Stéphane Silvera; Jérôme Bertherat; Xavier Bertagna; Martin Schlumberger; Xavier Jeunemaitre; Anne-Paule Gimenez-Roqueplo; Pierre-François Plouin
Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas.
The Journal of clinical endocrinology and metabolism 2007;92(10):3822-8.
2007: Laure Cazabat; Rossella Libè; Karine Perlemoine; Fernande René-Corail; Nelly Burnichon; Anne-Paule Gimenez-Roqueplo; Laurence Dupasquier-Fediaevsky; Xavier Bertagna; Eric Clauser; Philippe Chanson; Jérôme Bertherat; Marie-Laure Raffin-Sanson
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 / European Federation of Endocrine Societies 2007;157(1):1-8.
2007: Jérôme Perdu; Pierre Boutouyrie; C Bourgain; N Stern; Brigitte Laloux; Erwan Bozec; Michel Azizi; C Bonaiti-Pellié; Pierre-François Plouin; Stéphane Laurent; Anne-Paule Gimenez-Roqueplo; Xavier Jeunemaitre
Inheritance of arterial lesions in renal fibromuscular dysplasia.
Journal of human hypertension 2007;21(5):393-400.
2007: Karel Pacak; Graeme Eisenhofer; Håkan Ahlman; Stefan R Bornstein; Anne-Paule Gimenez-Roqueplo; Ashley B Grossman; Noriko Kimura; Massimo Mannelli; Anne McNicol; Arthur S Tischler
Pheochromocytoma: recommendations for clinical practice from the First International Symposium. October 2005.
Nature clinical practice. Endocrinology & metabolism 2007;3(2):92-102.
2007: Pierre-François Plouin; Jérôme Perdu; Agnès La Batide-Alanore; Pierre Boutouyrie; Anne-Paule Gimenez-Roqueplo; Xavier Jeunemaitre
Fibromuscular dysplasia.
Orphanet journal of rare diseases 2007;2():28.
2006: Jérôme Perdu; Pierre Boutouyrie; Khadija Lahlou-Laforêt; Philippe Khau van Kien; Nicolas Denarié; Elie Mousseaux; Marc Sapoval; Pierre Julia; Frank Zinzindohoué; Philippe Touraine; Yves Dumez; Denis Trystram; Catherine Vignal-Clermont; Anne-Paule Gimenez-Roqueplo; Xavier Jeunemaitre; Jean-Noël Fiessinger
[Vascular Ehlers-Danlos syndrome].
Presse médicale (Paris, France : 1983) 2006;35(12 Pt 2):1864-75.
2006: Anne-Paule Gimenez-Roqueplo; Hendrik Lehnert; Massimo Mannelli; Hartmut Neumann; Giuseppe Opocher; Eamonn R Maher; Pierre-François Plouin
Phaeochromocytoma, new genes and screening strategies.
Clinical endocrinology 2006;65(6):699-705.
2006: Jean-Jacques Briere; Judith Favier; Anne-Paule Gimenez-Roqueplo; Pierre Rustin
Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation.
American journal of physiology. Cell physiology 2006;291(6):C1114-20.
2006: Pierre-François Plouin; Anne-Paule Gimenez-Roqueplo
Initial work-up and long-term follow-up in patients with phaeochromocytomas and paragangliomas.
Best practice & research. Clinical endocrinology & metabolism 2006;20(3):421-34.
2006: Youssef Anouar; Laurent Yon; Johann Guillemot; Erwan Thouennon; Laure Barbier; Anne-Paule Gimenez-Roqueplo; Jérôme Bertherat; Hervé Lefebvre; Marc Klein; Mihaela Muresan; Eric Grouzmann; Pierre-François Plouin; Hubert Vaudry; Abdel G Elkahloun
Development of novel tools for the diagnosis and prognosis of pheochromocytoma using peptide marker immunoassay and gene expression profiling approaches.
Annals of the New York Academy of Sciences 2006;1073():533-40.
2006: Laurence Amar; Séverine Peyrard; Patrick Rossignol; Franck Zinzindohoue; Anne-Paule Gimenez-Roqueplo; Pierre-François Plouin
Changes in urinary total metanephrine excretion in recurrent and malignant pheochromocytomas and secreting paragangliomas.
Annals of the New York Academy of Sciences 2006;1073():383-91.
2006: Anne-Paule Gimenez-Roqueplo
New advances in the genetics of pheochromocytoma and paraganglioma syndromes.
Annals of the New York Academy of Sciences 2006;1073():112-21.
2006: Stefan R Bornstein; Anne-Paule Gimenez-Roqueplo
Genetic testing in pheochromocytoma: increasing importance for clinical decision making.
Annals of the New York Academy of Sciences 2006;1073():94-103.
2006: Jérôme Perdu; Anne-Paule Gimenez-Roqueplo; Pierre Boutouyrie; Sandrine Beaujour; Brigitte Laloux; Valérie Nau; Béatrice Fiquet-Kempf; Joseph Emmerich; Jean Tichet; Pierre-François Plouin; Stéphane Laurent; Xavier Jeunemaitre
Alpha1-antitrypsin gene polymorphisms are not associated with renal arterial fibromuscular dysplasia.
Journal of hypertension 2006;24(4):705-10.
2006: Diana E Benn; Anne-Paule Gimenez-Roqueplo; Jennifer R Reilly; Jérôme Bertherat; John Burgess; Karen Byth; Michael Croxson; Patricia Dahia; Marianne S Elston; Oliver Gimm; David Henley; Philippe Herman; Victoria Murday; Patricia Niccoli-Sire; Janice L Pasieka; Vincent Rohmer; Kathy Tucker; Xavier Jeunemaitre; Deborah J Marsh; Pierre-François Plouin; Bruce G Robinson
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
The Journal of clinical endocrinology and metabolism 2006;91(3):827-36.
2006: Pierre-François Plouin; Anne-Paule Gimenez-Roqueplo
The genetic basis of pheochromocytoma: who to screen and how?
Nature clinical practice. Endocrinology & metabolism 2006;2(2):60-1.
2006: Anne-Paule Gimenez-Roqueplo
[Hereditary paragangliomas and pheochromocytomas].
Néphrologie & thérapeutique 2006;2 Suppl 2():S137-42.
2006: Pierre-François Plouin; Anne-Paule Gimenez-Roqueplo
Pheochromocytomas and secreting paragangliomas.
Orphanet journal of rare diseases 2006;1():49.
2005: Laurence Amar; Jérôme Bertherat; Eric Baudin; Christiane Ajzenberg; Brigitte Bressac De-Paillerets; Olivier Chabre; Bernard Chamontin; Brigitte Delemer; Sophie Giraud; Arnaud Murat; Patricia Niccoli-Sire; Stéphane Richard; Vincent Rohmer; Jean-Louis Sadoul; Laurence Strompf; Martin Schlumberger; Xavier Bertagna; Pierre-François Plouin; Xavier Jeunemaitre; Anne-Paule Gimenez-Roqueplo
Genetic testing in pheochromocytoma or functional paraganglioma.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2005;23(34):8812-8.
2005: Jean-Jacques Briere; Judith Favier; Paule Bénit; Vincent El Ghouzzi; Annalisa Lorenzato; Daniel Rabier; Maria Flavia Di Renzo; Anne-Paule Gimenez-Roqueplo; Pierre Rustin
Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.
Human molecular genetics 2005;14(21):3263-9.
2005: Anne-Paule Gimenez-Roqueplo; Khadija Lahlou-Laforêt
[Psychological aspects of genetic diagnosis of endocrine tumors].
Annales d'endocrinologie 2005;66(3):284-8.
2005: Laurence Amar; Aude Servais; Anne-Paule Gimenez-Roqueplo; Franck Zinzindohoue; Gilles Chatellier; Pierre-François Plouin
Year of diagnosis, features at presentation, and risk of recurrence in patients with pheochromocytoma or secreting paraganglioma.
The Journal of clinical endocrinology and metabolism 2005;90(4):2110-6.
2005: Judith Favier; Jean-Jacques Briere; Laurence Strompf; Laurence Amar; Mounir Filali; Xavier Jeunemaitre; Pierre Rustin; Anne-Paule Gimenez-Roqueplo
Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.
Hormone research 2005;63(4):171-9.
2004: Baha Zantour; Brigitte Guilhaume; Frédérique Tissier; Albert Louvel; Xavier Jeunemaitre; Anne-Paule Gimenez-Roqueplo; Xavier Bertagna
A thyroid nodule revealing a paraganglioma in a patient with a new germline mutation in the succinate dehydrogenase B gene.
European journal of endocrinology / European Federation of Endocrine Societies 2004;151(4):433-8.
2004: Mounir Filali; Claire Le Jeunne; Eric Durand; Jean-Michel Grinda; Antonella Roetto; Filomena Daraio; Patrick Bruneval; Xavier Jeunemaitre; Anne-Paule Gimenez-Roqueplo
Juvenile hemochromatosis HJV-related revealed by cardiogenic shock.
Blood cells, molecules & diseases 2004;33(2):120-4.
2004: Carmela Lanzara; Antonella Roetto; Filomena Daraio; Sylvain R Rivard; Romina Ficarella; Hervey Simard; Timothy M Cox; Mario Cazzola; Alberto Piperno; Anne-Paule Gimenez-Roqueplo; Paola Grammatico; Stefano Volinia; Paolo Gasparini; Clara Camaschella
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.
Blood 2004;103(11):4317-21.
2003: Pierre Boutouyrie; Anne-Paule Gimenez-Roqueplo; Erika Fine; Brigitte Laloux; Béatrice Fiquet-Kempf; Pierre-François Plouin; Xavier Jeunemaitre; Stéphane Laurent
Evidence for carotid and radial artery wall subclinical lesions in renal fibromuscular dysplasia.
Journal of hypertension 2003;21(12):2287-95.
2003: Anne-Paule Gimenez-Roqueplo; Judith Favier; Pierre Rustin; Claudine Rieubland; Malvina Crespin; Valérie Nau; Philippe Khau van Kien; Pierre Corvol; Pierre-François Plouin; Xavier Jeunemaitre
Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.
Cancer research 2003;63(17):5615-21.
2002: Maxime Lamarre-Cliche; Anne-Paule Gimenez-Roqueplo; Eliane Billaud; Eric Baudin; Jean-Pierre Luton; Pierre-François Plouin
Effects of slow-release octreotide on urinary metanephrine excretion and plasma chromogranin A and catecholamine levels in patients with malignant or recurrent phaeochromocytoma.
Clinical endocrinology 2002;57(5):629-34.
2002: Anne-Paule Gimenez-Roqueplo; Judith Favier; Pierre Rustin; Claudine Rieubland; Véronique Kerlan; Pierre-François Plouin; Agnès Rötig; Xavier Jeunemaitre
Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.
The Journal of clinical endocrinology and metabolism 2002;87(10):4771-4.
2002: Xavier Jeunemaitre; Anne-Paule Gimenez-Roqueplo
[Genetics and arterial hypertension: 3 approaches to decode a complex disease].
Bulletin de l'Académie nationale de médecine 2002;186(9):1595-606; discussion 1606-9.
2001: Anne-Paule Gimenez-Roqueplo; Judith Favier; Pierre Rustin; J J Mourad; Pierre-François Plouin; Pierre Corvol; Agnès Rötig; Xavier Jeunemaitre
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 2001;69(6):1186-97.
2000: Pierre-François Plouin; Anne-Paule Gimenez-Roqueplo; Agnès La Batide-Alanore; S Salenave; J M Duclos
[Recent progress in the diagnosis, prognostic evaluation and treatment of pheochromocytomas].
La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne 2000;21(12):1075-85.
2000: Hervé Le Hir; Nicolas Charlet-Berguerand; Anne-Paule Gimenez-Roqueplo; M Mannelli; P Plouin; Vittorio de Franciscis; Claude Thermes
Relative expression of the RET9 and RET51 isoforms in human pheochromocytomas.
Oncology 2000;58(4):311-8.
2000: Jérôme Célérier; G Schmid; J P Le Caer; Anne-Paule Gimenez-Roqueplo; D Bur; Arno Friedlein; Hanno Langen; Pierre Corvol; Xavier Jeunemaitre
Characterization of a human angiotensinogen cleaved in its reactive center loop by a proteolytic activity from Chinese hamster ovary cells.
The Journal of biological chemistry 2000;275(14):10648-54.
2000: Anne-Paule Gimenez-Roqueplo; E Tomkiewicz; Agnès La Batide-Alanore; I Moreau; J F Paul; A Raynaud; Pierre-François Plouin
Stent treatment for pseudocoarctation and refractory hypertension in an elderly patient with Takayasu's arteritis.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2000;15(4):536-8.
1999: Pierre Corvol; A Persu; Anne-Paule Gimenez-Roqueplo; Xavier Jeunemaitre
Seven lessons from two candidate genes in human essential hypertension: angiotensinogen and epithelial sodium channel.
Hypertension 1999;33(6):1324-31.
1999: Xavier Jeunemaitre; Anne-Paule Gimenez-Roqueplo; Jérôme Célérier; Pierre Corvol
Angiotensinogen variants and human hypertension.
Current hypertension reports 1999;1(1):31-41.
1998: Anne-Paule Gimenez-Roqueplo; Jérôme Célérier; G Schmid; Pierre Corvol; Xavier Jeunemaitre
Role of cysteine residues in human angiotensinogen. Cys232 is required for angiotensinogen-pro major basic protein complex formation.
The Journal of biological chemistry 1998;273(51):34480-7.
1998: Anne-Paule Gimenez-Roqueplo; Jérôme Célérier; G Lucarelli; Pierre Corvol; Xavier Jeunemaitre
Role of N-glycosylation in human angiotensinogen.
The Journal of biological chemistry 1998;273(33):21232-8.
1997: X Jeunemaitre; I Inoue; Christopher Williams; A Charru; Jean Tichet; M Powers; Arya Sharma; Anne-Paule Gimenez-Roqueplo; A Hata; P Corvol; Jean-Marc Lalouel
Haplotypes of angiotensinogen in essential hypertension.
American journal of human genetics 1997;60(6):1448-60.
1996: P Cohen; G Badouaille; Anne-Paule Gimenez-Roqueplo; J C Mani; T T Guyene; Xavier Jeunemaitre; J Menard; Pierre Corvol; Bernard Pau; D Simon
Selective recognition of M235T angiotensinogen variants and their determination in human plasma by monoclonal antibody-based immunoanalysis.
The Journal of clinical endocrinology and metabolism 1996;81(10):3505-12.
1996: Anne-Paule Gimenez-Roqueplo; I Leconte; P Cohen; D Simon; T T Guyene; J Célerier; Bernard Pau; Pierre Corvol; Eric Clauser; Xavier Jeunemaitre
The natural mutation Y248C of human angiotensinogen leads to abnormal glycosylation and altered immunological recognition of the protein.
The Journal of biological chemistry 1996;271(16):9838-44.