{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T00:52:49Z","timestamp":1770511969768,"version":"3.49.0"},"reference-count":94,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,7]]},"DOI":"10.1097\/ppo.0b013e3182609458","type":"journal-article","created":{"date-parts":[[2012,7,27]],"date-time":"2012-07-27T21:05:47Z","timestamp":1343423147000},"page":"364-371","source":"Crossref","is-referenced-by-count":13,"title":["Genetic Testing by Cancer Site"],"prefix":"10.1097","volume":"18","author":[{"given":"Robert","family":"Pilarski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Nagy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R2-13-20210203","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1001\/archsurg.137.6.641","article-title":". Genotype-phenotype analysis in multiple endocrine neoplasia type 1.","volume":"137","author":"Kouvaraki","year":"2002","journal-title":"Arch Surg"},{"key":"R3-13-20210203","doi-asserted-by":"crossref","first-page":"5658","DOI":"10.1210\/jcem.86.12.8070","article-title":". Consensus guidelines for diagnosis and therapy of MEN type 1 and type 2.","volume":"86","author":"Brandi","year":"2001","journal-title":"J Clin Endrocrinol Metab"},{"key":"R4-13-20210203","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1126\/science.276.5311.404","article-title":". Positional cloning of the gene for multiple endocrine neoplasia type 1 (MEN 1) gene.","volume":"276","author":"Chandrasekharappa","year":"1997","journal-title":"Science"},{"key":"R5-13-20210203","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1093\/qjmed\/89.9.653","article-title":". Clinical studies of multiple endocrine neoplasia type 1 (MEN1).","volume":"89","author":"Trump","year":"1996","journal-title":"Q J Med"},{"key":"R6-13-20210203","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1067\/msy.1998.93107","article-title":". The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1.","volume":"124","author":"Carty","year":"1998","journal-title":"Surgery"},{"key":"R7-13-20210203","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1111\/j.1365-2265.2007.02934.x","article-title":". Age-related penetrance of endocrine tumours in multiple endocrine neoplasia type 1 (MEN1): a multicentre study of 258 gene carriers.","volume":"67","author":"Machens","year":"2007","journal-title":"Clin Endocrinol (Oxf)"},{"key":"R9-13-20210203","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1210\/edrv-8-4-391","article-title":". Familial multiple endocrine neoplasia type 1. A new look at pathophysiology.","volume":"8","author":"Brandi","year":"1987","journal-title":"Endocrinol Rev"},{"key":"R10-13-20210203","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/0002-9343(87)90008-8","article-title":". Hyperparathyroidism presenting as the first lesion in multiple endocrine neoplasia type 1.","volume":"82","author":"Benson","year":"1987","journal-title":"Am J Med"},{"key":"R11-13-20210203","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/BF03347413","article-title":". Parathyroid carcinoma in multiple endocrine neoplasia type 1 (MEN1) syndrome: two case reports of an unrecognised entity.","volume":"30","author":"Agha","year":"2007","journal-title":"J Endocrinol Invest"},{"key":"R12-13-20210203","doi-asserted-by":"crossref","first-page":"567","DOI":"10.4158\/EP09045.CRR1","article-title":". Parathyroid carcinoma in multiple endocrine neoplasia type 1 with a classic germline mutation.","volume":"15","author":"Shih","year":"2009","journal-title":"Endocr Pract"},{"key":"R13-13-20210203","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1385\/ENDO:12:3:223","article-title":". A newly recognized germline mutation of MEN1 gene identified in a patient with parathyroid adenoma and carcinoma.","volume":"12","author":"Sato","year":"2000","journal-title":"Endocrine"},{"key":"R14-13-20210203","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1056\/NEJM199003153221103","article-title":". Gastrinomas in the duodenums of patients with multiple endocrine neoplasia type 1 and the Zollinger-Ellison syndrome.","volume":"322","author":"Pipeleers-Marichal","year":"1990","journal-title":"N Engl J Med"},{"key":"R15-13-20210203","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1056\/NEJM199908263410902","article-title":". Surgery to cure the Zollinger-Ellison syndrome.","volume":"341","author":"Norton","year":"1999","journal-title":"N Engl J Med"},{"key":"R16-13-20210203","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1016\/0016-5085(95)90124-8","article-title":". Determinants of metastatic rate and survival in patients with Zollinger-Ellison syndrome: a prospective long-term study.","volume":"108","author":"Weber","year":"1995","journal-title":"Gastroenterology"},{"key":"R17-13-20210203","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0889-8529(18)30112-9","article-title":"Multiple endocrine neoplasia type 1. Clinical features and screening.","volume":"23","author":"Skosgeid","year":"1994","journal-title":"Endocrinol Metab Clin N Am"},{"key":"R19-13-20210203","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1111\/j.1572-0241.2006.00367.x","article-title":". Propective endoscopic ultrasonographic evaluation of the frequncy of nonfunctioning pancreaticoduodenal endocrine tumors in patients with multiple endocriine neoplasia type 1.","volume":"101","author":"Thomas-Marques","year":"2006","journal-title":"Am J Gastroenterol"},{"key":"R20-13-20210203","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1046\/j.1365-2265.1997.3311122.x","article-title":". Multiple endocrine neoplasia type 1 in patients with recognized pituitary tumours of different types.","volume":"47","author":"Corbetta","year":"1997","journal-title":"Clin Endocrinol (Oxf)"},{"key":"R21-13-20210203","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1111\/j.1365-2265.2008.03324.x","article-title":". Multiple endocrine neoplasia type 1 (MEN1): its manifestations and effect of genetic screening on clinical outcome.","volume":"70","author":"Pieterman","year":"2009","journal-title":"Clin Endocrinol (Oxf)"},{"key":"R22-13-20210203","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1097\/01.md.0000112297.72510.32","article-title":". Multiple endocrine neoplasia type 1 and Zollinger-Ellison syndrome: a prospective study of 107 cases and comparison with 1009 cases from the literature.","volume":"83","author":"Gibril","year":"2004","journal-title":"Medicine (Baltimore)"},{"key":"R23-13-20210203","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/332085a0","article-title":". Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma.","volume":"332","author":"Larsson","year":"1988","journal-title":"Nature"},{"key":"R24-13-20210203","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/humu.20605","article-title":"Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene.","volume":"29","author":"Lemos","year":"2008","journal-title":"Hum Mutat"},{"key":"R25-13-20210203","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1086\/301953","article-title":". Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.","volume":"63","author":"Giraud","year":"1998","journal-title":"Am J Hum Genet"},{"key":"R26-13-20210203","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/humu.10092","article-title":". Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.","volume":"20","author":"Wautot","year":"2002","journal-title":"Hum Mutat"},{"key":"R27-13-20210203","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1097\/00005792-200011000-00004","article-title":". Zollinger-Ellison syndrome. Clinical presentation in 261 patients.","volume":"79","author":"Roy","year":"2000","journal-title":"Medicine (Baltimore)"},{"key":"R28-13-20210203","doi-asserted-by":"crossref","first-page":"233","DOI":"10.3109\/00365528509089663","article-title":"Frequency of endocrine disorders in patients with the Zollinger-Ellison syndrome.","volume":"20","author":"Bardram","year":"1985","journal-title":"Scand J Gastroenterology"},{"key":"R29-13-20210203","first-page":"5553","article-title":". Screening of the MEN1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumors.","volume":"60","author":"Uchino","year":"2000","journal-title":"Cancer Res"},{"key":"R30-13-20210203","first-page":"205","article-title":". Pituitary adenomas of the multiple endocrine neoplasia type 1 syndrome.","volume":"4","author":"Scheithauer","year":"1987","journal-title":"Semin Diagn Pathol"},{"issue":"suppl 3","key":"R31-13-20210203","doi-asserted-by":"crossref","first-page":"8","DOI":"10.4158\/EP10379.RA","article-title":"Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practice.","volume":"17","author":"Newey","year":"2011","journal-title":"Endocr Pract"},{"key":"R35-13-20210203","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1089\/thy.2008.0403","article-title":". Medullary thyroid cancer: management guidelines of the American Thyroid Association.","volume":"19","author":"Kloos","year":"2009","journal-title":"Thyroid"},{"key":"R36-13-20210203","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/BF02303768","article-title":". Medullary carcinoma of the thyroid: prognostic factors and treatment recommendations.","volume":"5","author":"Fuchshuber","year":"1998","journal-title":"Ann Surg Oncol"},{"key":"R37-13-20210203","doi-asserted-by":"crossref","first-page":"1556","DOI":"10.1002\/(SICI)1097-0142(19960415)77:8<1556::AID-CNCR20>3.0.CO;2-Y","article-title":". Multivariate analysis of patients with medullary thyroid carcinoma. Prognostic significance and impact on treatment of clinical and pathologic variables.","volume":"77","author":"Dottorini","year":"1996","journal-title":"Cancer"},{"key":"R38-13-20210203","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1002\/(SICI)1097-0142(20000301)88:5<1139::AID-CNCR26>3.0.CO;2-Z","article-title":". Medullary thyroid carcinoma: clinical characteristics, treatment, prognostic factors, and a comparison of staging systems.","volume":"88","author":"Kebebew","year":"2000","journal-title":"Cancer"},{"key":"R40-13-20210203","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1111\/j.1365-2265.1995.tb01903.x","article-title":". Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma.","volume":"43","author":"Eng","year":"1995","journal-title":"Clin Endocrinol (Oxf)"},{"key":"R41-13-20210203","first-page":"3740","article-title":". Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma.","volume":"81","author":"Wohllk","year":"1996","journal-title":"J Clin Endocrinol Metab"},{"key":"R43-13-20210203","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1001\/jama.1996.03540190047028","article-title":". The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.","volume":"2776","author":"Eng","year":"1996","journal-title":"JAMA"},{"key":"R44-13-20210203","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1136\/jmg.33.9.779","article-title":"Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome).","volume":"33","author":"Morrison","year":"1996","journal-title":"J Med Genet"},{"key":"R45-13-20210203","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1007\/s00268-004-7637-4","article-title":". Multiple endocrine neoplasia 2B syndrome due to codon 918 mutation: clinical manifestation and course in early and late onset disease.","volume":"28","author":"Brauckhoff","year":"2004","journal-title":"World J Surg"},{"key":"R46-13-20210203","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1093\/hmg\/2.3.247","article-title":". Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2.","volume":"2","author":"Mole","year":"1993","journal-title":"Hum Mol Genet"},{"key":"R47-13-20210203","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1093\/hmg\/2.3.241","article-title":". Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2.","volume":"2","author":"Gardner","year":"1993","journal-title":"Hum Mol Genet"},{"key":"R48-13-20210203","first-page":"509","article-title":". Molecular mechanisms of development of multiple endocrine neoplasia 2 by RET mutations.","volume":"243","author":"Takahashi","year":"1998","journal-title":"J Intern Med"},{"key":"R49-13-20210203","first-page":"1427","article-title":"Walther MM, et al..","volume":"287","author":"Lenders","year":"2002","journal-title":"Biochemical diagnosis of pheochromocytoma: which test is best JAMA"},{"key":"R50-13-20210203","doi-asserted-by":"crossref","first-page":"4602","DOI":"10.1210\/jc.2005-2668","article-title":". Comparison of diagnostic accuracy of urinary free metanephrines, vanillyl mandelic acid, and catecholamines and plasma catecholamines for diagnosis of pheochromocytoma.","volume":"92","author":"Boyle","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"R51-13-20210203","doi-asserted-by":"crossref","first-page":"4069","DOI":"10.1210\/jc.2007-1720","article-title":"Preoperative management of the pheochromocytoma patient.","volume":"92","author":"Pacak","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"R52-13-20210203","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/ncpendmet0396","article-title":". Pheochromocytoma: recommendations for clinical practice from the First International Symposium. October 2005.","volume":"3","author":"Pacak","year":"2007","journal-title":"Nat Clin Pract Endocrinol Metab"},{"key":"R53-13-20210203","first-page":"685","article-title":". (123)Imetaiodobenzylguanidine and (111)Inoctreotide uptake in benign and malignant pheochromocytomas.","volume":"86","author":"van der Harst","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"R55-13-20210203","doi-asserted-by":"crossref","first-page":"2331","DOI":"10.1097\/01.hjh.0000251887.01885.54","article-title":". Pheochromocytoma: presentation, diagnosis and treatment.","volume":"24","author":"Reisch","year":"2006","journal-title":"J Hypertens"},{"key":"R58-13-20210203","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s10897-008-9187-7","article-title":"Cowden syndrome: a critical review of the clinical literature.","volume":"18","author":"Pilarski","year":"2009","journal-title":"J Genet Couns"},{"key":"R59-13-20210203","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1038\/sj.ejhg.5200289","article-title":". Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.","volume":"7","author":"Nelen","year":"1999","journal-title":"Eur J Hum Genet"},{"key":"R60-13-20210203","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1038\/ng0596-114","article-title":". Localization of the gene for Cowden disease to 10q22-23.","volume":"13","author":"Nelen","year":"1996","journal-title":"Nature Genetics"},{"key":"R61-13-20210203","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1136\/jmg.37.11.828","article-title":"Will the real Cowden syndrome please stand up: revised diagnostic criteria.","volume":"37","author":"Eng","year":"2000","journal-title":"J Med Genet"},{"key":"R62-13-20210203","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1136\/jmg.2004.018036","article-title":"Will the real Cowden syndrome please stand up (again) Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome.","volume":"41","author":"Pilarski","year":"2004","journal-title":"J Med Genet"},{"key":"R64-13-20210203","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1111\/j.1399-0004.1986.tb00816.x","article-title":". The Cowden syndrome: a clinical and genetic study in 21 patients.","volume":"29","author":"Starink","year":"1986","journal-title":"Clin Genet"},{"key":"R65-13-20210203","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1016\/S0190-9622(84)70270-2","article-title":"Cowdens disease: analysis of fourteen new cases.","volume":"11","author":"Starink","year":"1984","journal-title":"J Am Acad Dermatol"},{"key":"R66-13-20210203","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1016\/S0190-9622(83)70081-2","article-title":"Cowdens disease (multiple hamartoma and neoplasia syndrome). A case report and review of the English literature.","volume":"8","author":"Salem","year":"1983","journal-title":"J Am Acad Dermatol"},{"key":"R67-13-20210203","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1053\/j.gastro.2010.06.061","article-title":". Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.","volume":"139","author":"Heald","year":"2010","journal-title":"Gastroenterology"},{"key":"R68-13-20210203","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1136\/jmg.2011.088807","article-title":". Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.","volume":"48","author":"Pilarski","year":"2011","journal-title":"J Med Genet"},{"key":"R69-13-20210203","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1158\/1078-0432.CCR-11-2283","article-title":". Lifetime cancer risks in individuals with germline PTEN mutations.","volume":"18","author":"Tan","year":"2012","journal-title":"Clin Cancer Res"},{"key":"R70-13-20210203","doi-asserted-by":"crossref","first-page":"4071","DOI":"10.1242\/jcs.015230","article-title":"New insights into PTEN.","volume":"120","author":"Tamguney","year":"2007","journal-title":"J Cell Sci"},{"key":"R71-13-20210203","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1093\/hmg\/6.8.1383","article-title":". Germline mutations in the PTENMMAC1 gene in patients with Cowden disease.","volume":"6","author":"Nelen","year":"1997","journal-title":"Hum Mol Genet"},{"key":"R72-13-20210203","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/ng0597-64","article-title":". Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.","volume":"16","author":"Liaw","year":"1997","journal-title":"Nat Genet"},{"key":"R73-13-20210203","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1093\/hmg\/7.3.507","article-title":". Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.","volume":"7","author":"Marsh","year":"1998","journal-title":"Hum Mol Genet"},{"key":"R74-13-20210203","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1086\/377109","article-title":". Germline PTEN promoter mutations and deletions in CowdenBannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinaseAkt pathway.","volume":"73","author":"Zhou","year":"2003","journal-title":"Am J Hum Genet"},{"key":"R77-13-20210203","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.ajhg.2008.07.011","article-title":". Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.","volume":"83","author":"Ni","year":"2008","journal-title":"Am J Hum Genet"},{"key":"R79-13-20210203","doi-asserted-by":"crossref","first-page":"2724","DOI":"10.1001\/jama.2010.1877","article-title":"Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.","volume":"304","author":"Bennett","year":"2011","journal-title":"JAMA"},{"key":"R80-13-20210203","first-page":"5615","article-title":". Mutations in the SDHB gene are associated with extra-adrenal andor malignant phaeochromocytomas.","volume":"63","author":"Gimenez-Roqueplo","year":"2003","journal-title":"Cancer Res"},{"key":"R81-13-20210203","doi-asserted-by":"crossref","first-page":"R253","DOI":"10.1530\/ERC-11-0170","article-title":"Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.","volume":"18","author":"Welander","year":"2011","journal-title":"Endocr Relat Cancer"},{"key":"R82-13-20210203","doi-asserted-by":"crossref","first-page":"4137","DOI":"10.1200\/JCO.2011.34.6353","article-title":". Metastatic pheochromocytomaparaganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations.","volume":"29","author":"King","year":"2011","journal-title":"J Clin Oncol"},{"key":"R83-13-20210203","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1001\/jama.292.8.943","article-title":". Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.","volume":"292","author":"Neumann","year":"2004","journal-title":"JAMA"},{"key":"R84-13-20210203","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1093\/jnci\/djn254","article-title":". Germline SDHB mutations and familial renal cell carcinoma.","volume":"100","author":"Ricketts","year":"2008","journal-title":"J Natl Cancer Inst"},{"key":"R85-13-20210203","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1007\/s10689-009-9234-z","article-title":". SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis.","volume":"8","author":"Henderson","year":"2009","journal-title":"Fam Cancer"},{"key":"R86-13-20210203","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1002\/humu.21136","article-title":". Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.","volume":"31","author":"Ricketts","year":"2010","journal-title":"Hum Mutat"},{"key":"R87-13-20210203","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1016\/S0140-6736(89)91908-9","article-title":". Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory.","volume":"2","author":"van der Mey","year":"1989","journal-title":"Lancet"},{"key":"R88-13-20210203","doi-asserted-by":"crossref","first-page":"1609","DOI":"10.1210\/jc.2007-1989","article-title":". Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.","volume":"93","author":"Pigny","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"R89-13-20210203","doi-asserted-by":"crossref","first-page":"E2009","DOI":"10.1210\/jc.2011-1244","article-title":". Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.","volume":"96","author":"Yeap","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"R90-13-20210203","doi-asserted-by":"crossref","first-page":"2057","DOI":"10.1001\/jama.294.16.2057","article-title":". Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.","volume":"294","author":"Schiavi","year":"2005","journal-title":"JAMA"},{"key":"R91-13-20210203","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1126\/science.1175689","article-title":". SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.","volume":"325","author":"Hao","year":"2009","journal-title":"Science"},{"key":"R92-13-20210203","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1016\/S1470-2045(10)70007-3","article-title":". SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.","volume":"11","author":"Bayley","year":"2010","journal-title":"Lancet Oncol"},{"key":"R93-13-20210203","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1136\/jnnp.2005.067041","article-title":". Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA).","volume":"77","author":"Horvath","year":"2006","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"R94-13-20210203","doi-asserted-by":"crossref","first-page":"3011","DOI":"10.1093\/hmg\/ddq206","article-title":". SDHA is a tumor suppressor gene causing paraganglioma.","volume":"19","author":"Burnichon","year":"2010","journal-title":"Hum Mol Genet"},{"key":"R95-13-20210203","doi-asserted-by":"crossref","first-page":"E1472","DOI":"10.1210\/jc.2011-1043","article-title":". SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.","volume":"96","author":"Korpershoek","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"R96-13-20210203","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1038\/ng.533","article-title":". Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.","volume":"42","author":"Qin","year":"2010","journal-title":"Nat Genet"},{"key":"R97-13-20210203","doi-asserted-by":"crossref","first-page":"2611","DOI":"10.1001\/jama.2010.1830","article-title":". Spectrum and prevalence of FPTMEM127 gene mutations in pheochromocytomas and paragangliomas.","volume":"304","author":"Yao","year":"2010","journal-title":"JAMA"},{"key":"R98-13-20210203","doi-asserted-by":"crossref","first-page":"E1279","DOI":"10.1210\/jc.2011-0114","article-title":". Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites.","volume":"96","author":"Neumann","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"R100-13-20210203","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/ng.861","article-title":". Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.","volume":"43","author":"Comino-Mendez","year":"2011","journal-title":"Nat Genet"},{"key":"R101-13-20210203","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1056\/NEJMoa020152","article-title":". Germ-line mutations in nonsyndromic pheochromocytoma.","volume":"346","author":"Neumann","year":"2002","journal-title":"N Engl J Med"},{"key":"R102-13-20210203","doi-asserted-by":"crossref","first-page":"2817","DOI":"10.1210\/jc.2008-2504","article-title":". The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.","volume":"94","author":"Burnichon","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"R103-13-20210203","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1530\/EJE-11-0497","article-title":"The genetics of phaeochromocytoma: using clinical features to guide genetic testing.","volume":"166","author":"Jafri","year":"2012","journal-title":"Eur J Endocrinol"},{"key":"R104-13-20210203","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1016\/j.hoc.2010.06.008","article-title":"Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer.","volume":"24","author":"Rubinstein","year":"2010","journal-title":"Hematol Oncol Clin North Am"},{"key":"R105-13-20210203","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1136\/jmg.28.7.443","article-title":". von Hippel-Lindau disease: a genetic study.","volume":"28","author":"Maher","year":"1991","journal-title":"J Med Genet"},{"key":"R106-13-20210203","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1016\/0140-6736(91)91705-Y","article-title":"Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus.","volume":"337","author":"Neumann","year":"1991","journal-title":"Lancet"},{"key":"R107-13-20210203","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1038\/ejhg.2010.175","article-title":"von Hippel-Lindau disease: a clinical and scientific review.","volume":"19","author":"Maher","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"R108-13-20210203","doi-asserted-by":"crossref","first-page":"2347","DOI":"10.1093\/hmg\/11.20.2347","article-title":"The pressure rises: update on the genetics of phaeochromocytoma.","volume":"11","author":"Maher","year":"2002","journal-title":"Hum Mol Genet"},{"key":"R109-13-20210203","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1111\/j.1365-2265.2006.02714.x","article-title":". Phaeochromocytoma, new genes and screening strategies.","volume":"65","author":"Gimenez-Roqueplo","year":"2006","journal-title":"Clin Endocrinol (Oxf)"},{"key":"R110-13-20210203","doi-asserted-by":"crossref","first-page":"6378","DOI":"10.1158\/1078-0432.CCR-09-1237","article-title":". Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.","volume":"15","author":"Erlic","year":"2009","journal-title":"Clin Cancer Res"}],"container-title":["The Cancer Journal"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/journals.lww.com\/00130404-201207000-00013","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,27]],"date-time":"2024-04-27T14:42:47Z","timestamp":1714228967000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00130404-201207000-00013"}},"subtitle":["Endocrine System"],"short-title":[],"issued":{"date-parts":[[2012,7]]},"references-count":94,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012]]}},"URL":"https:\/\/doi.org\/10.1097\/ppo.0b013e3182609458","relation":{},"ISSN":["1528-9117"],"issn-type":[{"value":"1528-9117","type":"print"}],"subject":[],"published":{"date-parts":[[2012,7]]}}}