Anne Paule Gimenez-Roqueplo

Summary

Country: France

Publications

  1. ncbi request reprint Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma
    Anne Paule Gimenez-Roqueplo
    Département de Génétique Moléculaire, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, Paris, France
    J Clin Endocrinol Metab 87:4771-4. 2002
  2. doi request reprint Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators
    Anne Paule Gimenez-Roqueplo
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Service de Genetique, Paris, France
    J Clin Endocrinol Metab 98:E162-73. 2013
  3. doi request reprint An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes
    A P Gimenez-Roqueplo
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Service de Genetique, 20 rue Leblanc, Paris, France
    Horm Metab Res 44:328-33. 2012
  4. pmc Rapid determination of tricarboxylic acid cycle enzyme activities in biological samples
    Sergio Goncalves
    INSERM, U676, Paris, 75019 France
    BMC Biochem 11:5. 2010
  5. ncbi request reprint Recent advances in the genetics of phaeochromocytoma and functional paraganglioma
    Anne Paule Gimenez-Roqueplo
    Paris Descartes University, Paris, France
    Clin Exp Pharmacol Physiol 35:376-9. 2008
  6. pmc SDHA is a tumor suppressor gene causing paraganglioma
    Nelly Burnichon
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Service de Genetique, 20 40 rue Leblanc, F 75015 Paris, France
    Hum Mol Genet 19:3011-20. 2010
  7. doi request reprint Rationale for anti-angiogenic therapy in pheochromocytoma and paraganglioma
    Judith Favier
    INSERM, UMR970, Paris Cardiovascular Research Center, Paris, France
    Endocr Pathol 23:34-42. 2012
  8. doi request reprint Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma
    Nelly Burnichon
    INSERM, UMR970, Paris Cardiovascular Research Center, F 75015 Paris, France
    Hum Mol Genet 20:3974-85. 2011
  9. ncbi request reprint Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas
    Laurence Amar
    Hypertension Unit, Hopital Europeen Georges Pompidou, 20 rue Leblanc, 75908 Paris Cedex 15, France
    J Clin Endocrinol Metab 92:3822-8. 2007
  10. ncbi request reprint [Achievements of the COMETE program in the genetics of pheochromocytoma]
    Anne Paule Gimenez-Roqueplo
    Département de génétique, Hopital Europeen Georges Pompidou, Paris
    Bull Acad Natl Med 192:105-15; discussion 115-6. 2008

Detail Information

Publications55

  1. ncbi request reprint Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma
    Anne Paule Gimenez-Roqueplo
    Département de Génétique Moléculaire, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, Paris, France
    J Clin Endocrinol Metab 87:4771-4. 2002
    ..This observation highlights the role of the complex II mitochondrial genes in the oxygen-sensing pathway and in the regulation of angiogenesis of neural crest-derived tumors...
  2. doi request reprint Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators
    Anne Paule Gimenez-Roqueplo
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Service de Genetique, Paris, France
    J Clin Endocrinol Metab 98:E162-73. 2013
    ..Recommendations have not been established concerning imaging to screen SDHx mutation carriers for paraganglioma and pheochromocytoma...
  3. doi request reprint An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes
    A P Gimenez-Roqueplo
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Service de Genetique, 20 rue Leblanc, Paris, France
    Horm Metab Res 44:328-33. 2012
    ....
  4. pmc Rapid determination of tricarboxylic acid cycle enzyme activities in biological samples
    Sergio Goncalves
    INSERM, U676, Paris, 75019 France
    BMC Biochem 11:5. 2010
    ..A prerequisite to the identification of disease-causing TCAC enzyme deficiencies is the availability of effective enzyme assays...
  5. ncbi request reprint Recent advances in the genetics of phaeochromocytoma and functional paraganglioma
    Anne Paule Gimenez-Roqueplo
    Paris Descartes University, Paris, France
    Clin Exp Pharmacol Physiol 35:376-9. 2008
    ..They have also improved our understanding of the molecular mechanisms involved in PH tumorigenesis...
  6. pmc SDHA is a tumor suppressor gene causing paraganglioma
    Nelly Burnichon
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Service de Genetique, 20 40 rue Leblanc, F 75015 Paris, France
    Hum Mol Genet 19:3011-20. 2010
    ..The SDHA gene should be added to the list of genes encoding tricarboxylic acid cycle proteins that act as tumor suppressor genes and can now be considered as a new paraganglioma/pheochromocytoma susceptibility gene...
  7. doi request reprint Rationale for anti-angiogenic therapy in pheochromocytoma and paraganglioma
    Judith Favier
    INSERM, UMR970, Paris Cardiovascular Research Center, Paris, France
    Endocr Pathol 23:34-42. 2012
    ..Our results suggest that there is a strong rationale for anti-VEGF-based therapeutic strategies in malignant pheochromocytomas and paragangliomas, in particular in those associated with mutations in the SDHB gene...
  8. doi request reprint Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma
    Nelly Burnichon
    INSERM, UMR970, Paris Cardiovascular Research Center, F 75015 Paris, France
    Hum Mol Genet 20:3974-85. 2011
    ..Altogether, these new findings suggest that somatic mutation analysis is likely to yield important clues for personalizing molecular targeted therapies...
  9. ncbi request reprint Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas
    Laurence Amar
    Hypertension Unit, Hopital Europeen Georges Pompidou, 20 rue Leblanc, 75908 Paris Cedex 15, France
    J Clin Endocrinol Metab 92:3822-8. 2007
    ..Pheochromocytomas and paragangliomas may be malignant either at presentation or during recurrence, but the clinical course of malignant tumors is unpredictable...
  10. ncbi request reprint [Achievements of the COMETE program in the genetics of pheochromocytoma]
    Anne Paule Gimenez-Roqueplo
    Département de génétique, Hopital Europeen Georges Pompidou, Paris
    Bull Acad Natl Med 192:105-15; discussion 115-6. 2008
    ..Finally, it has identified new molecular mechanisms involved in PH-related tumorigenesis...
  11. ncbi request reprint Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency
    Judith Favier
    Département de génétique, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, Université Paris V and INSERM U36, College de France, France
    Horm Res 63:171-9. 2005
    ....
  12. ncbi request reprint Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas
    Anne Paule Gimenez-Roqueplo
    AP HP, Hopital Europeen Georges Pompidou, Département de Génétique Moléculaire, Paris
    Cancer Res 63:5615-21. 2003
    ..These data strongly suggest that SDHB gene is a tumor suppressor gene and that the identification of germ-line mutations in SDHB gene in patients with ASPs should be considered as a high-risk factor for malignancy or recurrence...
  13. doi request reprint Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma
    Nelly Burnichon
    INSERM, UMR970, Paris Cardiovascular Research Center, Paris, France
    Hum Mol Genet 21:5397-405. 2012
    ..These new findings suggest that NF1 loss of function is a frequent event in the tumorigenesis of sporadic pheochromocytoma and strengthen the new concept of molecular-based targeted therapy for pheochromocytoma or paraganglioma...
  14. doi request reprint A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma
    Nelly Burnichon
    Assistance Publique Hopitaux de Paris, Département de génétique, Hopital Europeen Georges Pompidou, Service de Genetique, 20 40 rue Leblanc, F 75015 Paris, France
    Eur J Endocrinol 164:141-5. 2011
    ..Following the recent description of TMEM127 as a new pheochromocytoma susceptibility gene, the aim of this study was to test the hypothesis of a causative TMEM127 gene mutation in this patient...
  15. ncbi request reprint Phaeochromocytoma, new genes and screening strategies
    Anne Paule Gimenez-Roqueplo
    Department of Genetics, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, France
    Clin Endocrinol (Oxf) 65:699-705. 2006
    ..The ENS@T Phaeochromocytoma Working Group recommends the genetic testing of all patients with PH and FPGL and suggests a practice algorithm for the management of their exploration...
  16. ncbi request reprint A thyroid nodule revealing a paraganglioma in a patient with a new germline mutation in the succinate dehydrogenase B gene
    Baha Zantour
    Service des Maladies Endocriniennes et Metaboliques, Paris, France
    Eur J Endocrinol 151:433-8. 2004
    ..This report highlights the difficulties of this unexpected diagnosis of hereditary thyroid paraganglioma. It also discusses the clinical involvements in terms of familial screening and the necessary follow-up of the patient...
  17. ncbi request reprint Alpha1-antitrypsin gene polymorphisms are not associated with renal arterial fibromuscular dysplasia
    Jérôme Perdu
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Department of Medical Genetics, Paris, France
    J Hypertens 24:705-10. 2006
    ..Case reports have associated alpha1-antitrypsin deficiency and FMD. The aim of this study was to test the implication of the alpha1-antitrypsin (AAT) gene in a large cohort of patients with renal FMD...
  18. pmc The Warburg effect is genetically determined in inherited pheochromocytomas
    Judith Favier
    INSERM, Unit 970, Paris, France
    PLoS ONE 4:e7094. 2009
    ..Our data suggest an unexpected association between pseudohypoxia and loss of p53, which leads to a distinct Warburg effect in VHL-related pheochromocytomas...
  19. ncbi request reprint New advances in the genetics of pheochromocytoma and paraganglioma syndromes
    Anne Paule Gimenez-Roqueplo
    Département de génétique, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, and Université de Paris, Faculte de Medecine, INSERM U772, College de France, France
    Ann N Y Acad Sci 1073:112-21. 2006
    ..We discuss here these recent findings and their clinical consequences for the management of PHEO/PGL families and the future of research in this field...
  20. doi request reprint TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma
    Nassera Abermil
    Département de génétique, Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, 75015 Paris, France
    J Clin Endocrinol Metab 97:E805-9. 2012
    ..TMEM127 is a novel pheochromocytoma (PCC) susceptibility gene...
  21. ncbi request reprint Year of diagnosis, features at presentation, and risk of recurrence in patients with pheochromocytoma or secreting paraganglioma
    Laurence Amar
    Hypertension Unit, Hopital Europeen Georges Pompidou, 20 rue Leblanc, 75908 Paris Cedex 15, France
    J Clin Endocrinol Metab 90:2110-6. 2005
    ..In conclusion, pheochromocytomas/paragangliomas can now be diagnosed earlier, with smaller tumors, and more frequently as incidentalomas. Familial, right adrenal, and extraadrenal tumors recur more frequently than left adrenal tumors...
  22. ncbi request reprint Changes in urinary total metanephrine excretion in recurrent and malignant pheochromocytomas and secreting paragangliomas
    Laurence Amar
    Hypertension Unit, Université Paris Descares, Faculte de Medecine, and Hôpital Européen Georges Pompidou, 20 rue Leblanc, 75908 Paris Cedex 15, France
    Ann N Y Acad Sci 1073:383-91. 2006
    ..Urinary metanephrine excretion is a marker of tumor activity and a surrogate of tumor burden in patients with pheochromocytoma or secreting paraganglioma. UETM excretion could be used to assess treatment response in malignant cases...
  23. pmc Fibromuscular dysplasia
    Pierre Francois Plouin
    Hopital Europeen Georges Pompidou, AP HP, Universite Paris Descartes, Faculte de Medecine, INSERM Unit 772, College de France, Paris, France
    Orphanet J Rare Dis 2:28. 2007
    ..The therapeutic options for securing ruptured intracerebral aneurysms are microvascular neurosurgical clipping and endovascular coiling. Stenosis progression in renal artery FMD is slow and rarely leads to ischemic renal failure...
  24. ncbi request reprint Initial work-up and long-term follow-up in patients with phaeochromocytomas and paragangliomas
    Pierre Francois Plouin
    Hypertension Unit, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, France
    Best Pract Res Clin Endocrinol Metab 20:421-34. 2006
    ..Patients should be followed up indefinitely, particularly if they have familial or extra-adrenal tumours...
  25. ncbi request reprint The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas
    Nelly Burnichon
    Département de génétique, Hopital Europeen Georges Pompidou, 20 40 rue Leblanc, Paris, France
    J Clin Endocrinol Metab 94:2817-27. 2009
    ..Germline mutations in SDHx genes cause hereditary paraganglioma...
  26. doi request reprint [Genetics of paragangliomas and pheochromocytomas]
    Judith Favier
    Centre de recherche cardiovasculaire de l Hôpital Européen Georges Pompidou, Paris, France
    Med Sci (Paris) 28:625-32. 2012
    ..From nowadays to a close future, these advances will have important consequences on the monitoring of patients, from genetic counseling to a personalized clinical management...
  27. ncbi request reprint MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma
    Nelly Burnichon
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Paris, France
    Clin Cancer Res 18:2828-37. 2012
    ..How MAX mutations contribute to PCC/PGL and associated phenotypes remain unclear. This study aimed to examine the prevalence and associated phenotypic features of germline and somatic MAX mutations in PCC/PGL...
  28. ncbi request reprint Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline
    Jacques W M Lenders
    Radboud University Medical Center J W M L, 6500 HB Nijmegen, The Netherlands VA Medical Center and University of California, San Francisco Q Y D, San Francisco, California 94121 University Hospital Dresden G E, 01307 Dresden, Germany Assistance Publique Hôpitaux de Paris, Hopital Europeen Georges Pompidou, Service de Genetique, A P G R, F 75015 Paris, France Université Paris Descartes A P G R, F 75006 Paris, France Mayo Clinic S K G G, M H M, Rochester, Minnesota 55905 National Hospital Organisation Kyoto Medical Center M N, Kyoto 612 8555 Japan Eunice Kennedy Shriver National Institute of Child Health and Human Development K P, Bethesda, Maryland 20892 and Mayo Clinic W F Y, Rochester, Minnesota 55905
    J Clin Endocrinol Metab 99:1915-42. 2014
    ..The aim was to formulate clinical practice guidelines for pheochromocytoma and paraganglioma (PPGL)...
  29. pmc Pheochromocytomas and secreting paragangliomas
    Pierre Francois Plouin
    Hypertension Unit, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, Universite Rene Descartes Paris 5, France
    Orphanet J Rare Dis 1:49. 2006
    ..Recurrences and malignancy are more frequent in cases with large or extraadrenal tumors. Patients, especially those with familial or extraadrenal tumors, should be followed-up indefinitely...
  30. doi request reprint Pheochromocytomas: the (pseudo)-hypoxia hypothesis
    Judith Favier
    INSERM, U970, Paris Cardiovascular Research Center PARCC, Paris, France
    Best Pract Res Clin Endocrinol Metab 24:957-68. 2010
    ..Altogether, physiological, genetic, cellular and molecular data collected over years all point to a central role of the hypoxic or pseudohypoxic pathway in pheochromocytoma and paraganglioma tumorigenesis...
  31. ncbi request reprint [COMETE, a network for the study and management of hypersecreting adrenal tumors]
    Pierre Francois Plouin
    Département de génétique, Hopital Europeen Georges Pompidou, Paris
    Bull Acad Natl Med 192:73-82; discussion 83-5. 2008
    ....
  32. ncbi request reprint Evidence for carotid and radial artery wall subclinical lesions in renal fibromuscular dysplasia
    Pierre Boutouyrie
    Department of Pharmacology and INSERM EMI U 0107, Hopital Europeen Georges Pompidou, Paris, France
    J Hypertens 21:2287-95. 2003
    ....
  33. ncbi request reprint The genetic basis of pheochromocytoma: who to screen and how?
    Pierre Francois Plouin
    Universite Paris Descartes, Faculte de Medecine, AP HP, Hôpital Européen Georges Pompidou and INSERM U772, College de France, Paris, France
    Nat Clin Pract Endocrinol Metab 2:60-1. 2006
  34. pmc Identity by descent mapping of founder mutations in cancer using high-resolution tumor SNP data
    Eric Letouze
    Programme Cartes d Identité des Tumeurs, Ligue Nationale Contre le Cancer, Paris, France
    PLoS ONE 7:e35897. 2012
    ..FounderTracker is thus a powerful tool for discovering unknown founder mutations that may explain part of the "missing" heritability in cancer. This method is freely available and can be used online at the FounderTracker website...
  35. doi request reprint Inactivation of the APC gene is constant in adrenocortical tumors from patients with familial adenomatous polyposis but not frequent in sporadic adrenocortical cancers
    Sebastien Gaujoux
    Institut Cochin, Université Paris Descartes Faculté de Médecine, CNRS UMR 8104, Paris, France
    Clin Cancer Res 16:5133-41. 2010
    ..Both APC and WTX are involved in Wnt/β-catenin pathway regulation and may play a role in ACT tumorigenesis. The aim of this study was to report if APC and WTX may be associated with FAP-associated and sporadic ACT...
  36. ncbi request reprint Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas
    Luis Jaime Castro-Vega
    INSERM, UMR970, Paris Cardiovascular Research Center, F 75015, Paris, France
    Hum Mol Genet 23:2440-6. 2014
    ..Therefore, we propose that mutation screening for FH should be included in PCC/PGL genetic testing, at least for tumors with malignant behavior. ..
  37. ncbi request reprint Development of novel tools for the diagnosis and prognosis of pheochromocytoma using peptide marker immunoassay and gene expression profiling approaches
    Youssef Anouar
    INSERM U413, Laboratory of Cellular and Molecular Neuroendocrinology, European Institute for Peptide Research IFRMP23, University of Rouen, and Department of Genetics, Hopital Europeen Georges Pompidou, Paris, France
    Ann N Y Acad Sci 1073:533-40. 2006
    ..Altogether, these studies provide novel tools for the management of PHEO, and new insights for the understanding of tumorigenesis in chromaffin cells, which may offer potential therapeutic strategies...
  38. ncbi request reprint [Psychological aspects of genetic diagnosis of endocrine tumors]
    Anne Paule Gimenez-Roqueplo
    Département de génétique, Hopital Europeen Georges Pompidou, Paris
    Ann Endocrinol (Paris) 66:284-8. 2005
  39. ncbi request reprint Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions
    Jean Jacques Briere
    INSERM U676, Hopital Robert Debre, Paris, France
    Hum Mol Genet 14:3263-9. 2005
    ..In SDH deficiency, organic acids thus appear instrumental in the HIF1alpha-dependent cascade suggesting a direct link between SDH and tumourigenesis...
  40. ncbi request reprint [Hereditary paragangliomas and pheochromocytomas]
    Anne Paule Gimenez-Roqueplo
    Département de génétique, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, 20 40, rue Leblanc, 75015 Paris, France
    Nephrol Ther 2:S137-42. 2006
    ....
  41. ncbi request reprint [Vascular Ehlers-Danlos syndrome]
    Jérôme Perdu
    Groupe Multidisciplinaire de Prise en Charge du Syndrome d Ehlers Danlos Vasculaire, Hopital Europeen Georges Pompidou, Paris
    Presse Med 35:1864-75. 2006
    ....
  42. ncbi request reprint Effects of slow-release octreotide on urinary metanephrine excretion and plasma chromogranin A and catecholamine levels in patients with malignant or recurrent phaeochromocytoma
    Maxime Lamarre-Cliche
    Clinical Investigation Center 9201, Assistance Publique des Hôpitaux de Paris INSERM, Paris, France
    Clin Endocrinol (Oxf) 57:629-34. 2002
    ..We carried out a prospective study on 10 patients with malignant or recurrent phaeochromocytomas to examine the clinical and hormonal effects of three monthly intramuscular injections of 20 mg slow-release octreotide...
  43. pmc Spectrum of mutations in Gitelman syndrome
    Rosa Vargas-Poussou
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Service de Genetique, Paris, France
    J Am Soc Nephrol 22:693-703. 2011
    ....
  44. ncbi request reprint Juvenile hemochromatosis HJV-related revealed by cardiogenic shock
    Mounir Filali
    Département de Génétique Moléculaire, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, Paris, France
    Blood Cells Mol Dis 33:120-4. 2004
    ..This observation underlines the importance of HJV genetic testing, by complete screening of the gene, in young patients with abnormal iron parameters and hypogonadism and/or cardiac symptoms to prevent death from cardiac complications...
  45. ncbi request reprint Identification of potential gene markers and insights into the pathophysiology of pheochromocytoma malignancy
    Erwan Thouennon
    Institut National de la Santé et de la Recherche Médicale U413, Laboratory of Cellular and Molecular Neuroendocrinology, Institut Fédératif de Recherche Multidisciplinaires sur les Peptides 23, University of Rouen, 76821 Mont Saint Aignan, France
    J Clin Endocrinol Metab 92:4865-72. 2007
    ..Pheochromocytomas are catecholamine-producing tumors that are generally benign but that can also present as or develop into malignancy. Occurrence of malignant pheochromocytomas can only be asserted by imaging of metastatic lesions...
  46. ncbi request reprint 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
    Barbara Pasini
    Department of Genetics, Biology and Biochemistry, University of Torino, Turin, Italy
    Eur J Hum Genet 16:79-88. 2008
    ..We conclude that succinate dehydrogenase deficiency may be the cause of a subgroup of GISTs and this offers a therapeutic target for GISTs that may not respond to STI571 and its analogs...
  47. ncbi request reprint Genetic testing in pheochromocytoma or functional paraganglioma
    Laurence Amar
    Universite Paris Descartes, Faculte de Medecine, France
    J Clin Oncol 23:8812-8. 2005
    ..To assess the yield and the clinical value of systematic screening of susceptibility genes for patients with pheochromocytoma (pheo) or functional paraganglioma (pgl)...
  48. ncbi request reprint Pheochromocytoma: recommendations for clinical practice from the First International Symposium. October 2005
    Karel Pacak
    National Institute of Child Health and Development, NIH, Bethesda, MD, USA
    Nat Clin Pract Endocrinol Metab 3:92-102. 2007
    ..Inadequate methods to distinguish malignant from benign tumors and a lack of effective treatments for malignancy are important problems requiring further resolution...
  49. ncbi request reprint Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes
    Diana E Benn
    Department of Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital, St Leonards, NSW 2065, Australia
    J Clin Endocrinol Metab 91:827-36. 2006
    ..The identification of mutations in genes encoding peptides of succinate dehydrogenase (SDH) in pheochromocytoma/paraganglioma syndromes has necessitated clear elucidation of genotype-phenotype associations...
  50. ncbi request reprint Genetic testing in pheochromocytoma: increasing importance for clinical decision making
    Stefan R Bornstein
    Department of Medicine, Carl Gustav Carus University Hospital, Dresden, Germany
    Ann N Y Acad Sci 1073:94-103. 2006
    ..This algorithm will need to be validated by further genetic analysis, multicenter studies, and long-term observations...
  51. ncbi request reprint Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation
    Jean Jacques Briere
    Institut National de la Santé et de la Recherche Médicale INSERM Unité 676, Hopital Robert Debre, Paris
    Am J Physiol Cell Physiol 291:C1114-20. 2006
    ....
  52. ncbi request reprint 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
    Laure Cazabat
    INSERM, U567, 75 Paris, France
    Eur J Endocrinol 157:1-8. 2007
    ..The aim of the study was to determine the prevalence of AIP mutations in a large cohort of patients with apparently sporadic GH-secreting tumors...
  53. ncbi request reprint Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families
    Adrian F Daly
    Department of Endocrinology, Centre Hospitalier Universitaire de Liege, University of Liege, Domaine Universitaire du Sart Tilman, 4000 Liege, Belgium
    J Clin Endocrinol Metab 92:1891-6. 2007
    ..An association between germline aryl hydrocarbon receptor-interacting protein (AIP) gene mutations and pituitary adenomas was recently shown...
  54. ncbi request reprint Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis
    Carmela Lanzara
    Dipartimento di Patologia Generale, II Universita di Napoli, Italy
    Blood 103:4317-21. 2004
    ..Mutations either generate premature termination codons or were missense substitutions, affecting highly conserved residues, relevant to the protein structure and/or function...
  55. ncbi request reprint [Genetics and arterial hypertension: 3 approaches to decode a complex disease]
    Xavier Jeunemaitre
    Département de génétique, Hopital Europeen Georges Pompidou, 20 rue Leblanc 75908 Paris
    Bull Acad Natl Med 186:1595-606; discussion 1606-9. 2002
    ....