{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:18:20Z","timestamp":1787062700554,"version":"build-2736575974"},"reference-count":92,"publisher":"Public Library of Science (PLoS)","issue":"10","license":[{"start":{"date-parts":[[2017,10,16]],"date-time":"2017-10-16T00:00:00Z","timestamp":1508112000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0186485","type":"journal-article","created":{"date-parts":[[2017,10,16]],"date-time":"2017-10-16T13:38:31Z","timestamp":1508161111000},"page":"e0186485","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":39,"title":["Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features"],"prefix":"10.1371","volume":"12","author":[{"given":"Elena","family":"Pardi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Borsari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Saponaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fausto","family":"Bogazzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Urbani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Mariotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Pigliaru","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Satta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiana","family":"Pani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Materazzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Miccoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"Grantaliano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Marcocci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2558-9547","authenticated-orcid":true,"given":"Filomena","family":"Cetani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2017,10,16]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","DOI":"10.1155\/2012\/705036","article-title":"Genetic and clinical features of multiple endocrine neoplasia types 1 and 2","volume":"2012","author":"C Romei","year":"2012","journal-title":"J Oncol"},{"key":"ref2","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":"MC Lemos","year":"2008","journal-title":"Hum Mutat"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.cancergen.2015.12.002","article-title":"Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years","volume":"209","author":"P Concolino","year":"2016","journal-title":"Cancer Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1507\/endocrj.46.811","article-title":"No evidence of germline mutation or somatic deletion of the MEN1 gene in a case of familial multiple endocrine neoplasia type 1 (MEN1)","volume":"46","author":"H Namihira","year":"1999","journal-title":"Endocr J"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1111\/j.1365-2265.2007.03045.x","article-title":"Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1","volume":"68","author":"M Owens","year":"2008","journal-title":"Clin Endocrinol"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1677\/joe.0.1660001","article-title":"Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region","volume":"166","author":"W Karges","year":"2000","journal-title":"J Endocrinol"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.jmb.2003.08.001","article-title":"Functional characterization of a promoter region in the human MEN1 tumor suppressor gene","volume":"333","author":"M Fromaget","year":"2003","journal-title":"J Mol Biol"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1136\/jmg.2003.017319","article-title":"A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing","volume":"42","author":"JW Cardinal","year":"2005","journal-title":"J Med Genet"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1677\/JOE-09-0124","article-title":"Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers","volume":"203","author":"MC Lemos","year":"2009","journal-title":"J Endocrinol"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1016\/j.ajhg.2016.08.018","article-title":"GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism","volume":"99","author":"B Guan","year":"2016","journal-title":"Am J Hum Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"15558","DOI":"10.1073\/pnas.0603877103","article-title":"Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans","volume":"103","author":"NS Pellegata","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1210\/jc.2008-2083","article-title":"Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states","volume":"94","author":"SK Agarwal","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1111\/j.1365-2265.2011.04269.x","article-title":"Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain","volume":"76","author":"O Belar","year":"2012","journal-title":"Clin Endocrinol"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.ecl.2014.10.002","article-title":"Familial Isolated Pituitary Adenomas (FIPA) and Mutations in the Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene","volume":"44","author":"AF Daly","year":"2015","journal-title":"Endocrinol Metab Clin North Am"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1530\/EC-14-0116","article-title":"Functional characterization of a CDKN1B mutation in a Sardinian kindred with multiple endocrine neoplasia type 4 (MEN4)","volume":"4","author":"E Pardi","year":"2014","journal-title":"Endocr Connect"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1046\/j.1365-2265.2002.01502.x","article-title":"Genetic analysis of the MEN1 gene and HPRT2 locus in two Italian kindreds with familial isolated hyperparathyroidism","volume":"56","author":"F Cetani","year":"2002","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"5583","DOI":"10.1210\/jc.2004-0294","article-title":"Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: Germline and somatic mutations in familial and sporadic parathyroid tumors","volume":"89","author":"F Cetani","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1111\/j.1365-2265.2006.02438.x","article-title":"Genetic analyses in familial isolated hyperparathyroidism: Implication for clinical assessment and surgical management","volume":"64","author":"F Cetani","year":"2006","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"2990","DOI":"10.1210\/jc.2012-1230","article-title":"Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1)","volume":"97","author":"V Thakker R","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"ref20","article-title":"WHO Classification of Tumours of the Digestive System","author":"F Bosman","year":"2010"},{"key":"ref21","article-title":"Pathology and Genetics of Tumours of the Lung, Pleu- ra, Thymus and Heart","author":"W Travis","year":"2015"},{"key":"ref22","article-title":"Pathology and genetics. Tumors of Endocrine organs. WHO Classification of Tumours","author":"R DeLellis","year":"2004"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"2800","DOI":"10.1210\/jc.2012-4029","article-title":"Aryl hydrocarbon receptor interacting protein (AIP) mutations occur rarely in sporadic parathyroid adenomas","volume":"98","author":"E Pardi","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1126\/science.1126100","article-title":"Pituitary Adenoma Predisposition Caused by Germline Mutations in the AIP Gene","volume":"312","author":"O Vierimaa","year":"2006","journal-title":"Science"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"1891","DOI":"10.1210\/jc.2006-2513","article-title":"Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: Analysis in 73 families","volume":"92","author":"AF Daly","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"4101","DOI":"10.1073\/pnas.0700004104","article-title":"Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations","volume":"104","author":"M Georgitsi","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1111\/j.1752-8062.2010.00254.x","article-title":"Familial isolated pituitary adenomas: From genetics to therapy","volume":"4","author":"F Guaraldi","year":"2011","journal-title":"Clin Transl Sci"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1210\/jc.2011-2291","article-title":"Germline AIP mutations in apparently sporadic pituitary adenomas: Prevalence in a prospective single-center cohort of 443 patients","volume":"97","author":"L Cazabat","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1007\/s11102-012-0409-5","article-title":"Should aip gene screening be recommended in family members of FIPA patients with R16H variant?","volume":"16","author":"MC Zatelli","year":"2013","journal-title":"Pituitary"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1530\/EJE-12-0457","article-title":"Germline mutations of AIP gene in somatotropinomas resistant to somatostatin analogues","volume":"168","author":"J Oriola","year":"2013","journal-title":"Eur J Endocrinol"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"140105","DOI":"10.1530\/EDM-14-0105","article-title":"An unusual case of an ACTH-secreting macroadenoma with a germline variant in the aryl hydrocarbon receptor-interacting protein (AIP) gene","volume":"2015","author":"PT Dinesen","year":"2015","journal-title":"Endocrinol Diabetes Metab Case Reports"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1530\/eje.0.1420131","article-title":"MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1","volume":"142","author":"A Morelli","year":"2000","journal-title":"Eur J Endocrinol"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"2603","DOI":"10.1210\/jc.2004-1155","article-title":"Thymic neuroendocrine carcinoma (carcinoid) in multiple endocrine neoplasia type 1 syndrome: The Italian series","volume":"90","author":"P Ferolla","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1159\/000326164","article-title":"Presentation and outcome of pancreaticoduodenal endocrine tumors in multiple endocrine neoplasia type 1 syndrome","volume":"94","author":"MV Dav\u00ec","year":"2011","journal-title":"Neuroendocrinology"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1007\/BF03345419","article-title":"A novel menin gene deletional mutation in a little series of Italian patients affected by apparently sporadic multiple endocrine neoplasia type 1 syndrome","volume":"35","author":"M Giacch\u00e9","year":"2012","journal-title":"J Endocrinol Invest"},{"key":"ref36","first-page":"1","article-title":"Multiple Endocrine Neoplasia Syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database","volume":"28","author":"F Giusti","year":"2017","journal-title":"Endocrine"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"3288","DOI":"10.1210\/JC.2015-2015","article-title":"Long-term natural course of pituitary tumors in patients with MEN1: Results from the Dutch MEN1 study group (DMSG)","volume":"100","author":"JM De Laat","year":"2015","journal-title":"J Clin Endocrinol Metab"},{"key":"ref38","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":"A Machens","year":"2007","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"1940","DOI":"10.1093\/hmg\/ddt039","article-title":"Higher risk of death among MEN1 patients with mutations in the JUND interacting domain: A groupe d\u2019etude des tumeurs endocrines (GTE) cohort study","volume":"22","author":"J Thevenon","year":"2013","journal-title":"Hum Mol Genet"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"E2387","DOI":"10.1210\/jc.2013-4432","article-title":"Higher risk of aggressive pancreatic neuroendocrine tumors in MEN1 patients with men1 mutations affecting the CHES1 interacting MENIN domain","volume":"99","author":"DK Bartsch","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/S0304-3835(99)00156-1","article-title":"A novel splicing mutation (894\u20139 G &gt; A) of the MEN1 gene responsible for multiple endocrine neoplasia type 1","volume":"142","author":"M Kishi","year":"1999","journal-title":"Cancer Lett"},{"key":"ref42","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":"MA Kouvaraki","year":"2002","journal-title":"Arch Surg"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1111\/j.1365-2265.2005.02190.x","article-title":"Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing","volume":"62","author":"S Ellard","year":"2005","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/S0003-4266(06)73010-4","article-title":"Contribution of genetic analysis in screening for MEN1 among patients with sporadic disease and one or more typical manifestation","volume":"67","author":"M-F Odou","year":"2006","journal-title":"Ann Endocrinol (Paris)"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1097\/01.sla.0000124383.98416.8d","article-title":"Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1)","volume":"239","author":"TC Lairmore","year":"2004","journal-title":"Ann Surg"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1111\/j.1365-2265.2011.04134.x","article-title":"A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype","volume":"75","author":"H Raef","year":"2011","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/j.cancergen.2011.03.006","article-title":"Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletion","volume":"204","author":"D Rusconi","year":"2011","journal-title":"Cancer Genet"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1186\/s12916-016-0708-1","article-title":"MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients","volume":"14","author":"JM de Laat","year":"2016","journal-title":"BMC Med"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1136\/jmg.40.5.e72","article-title":"Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients","volume":"40","author":"A Cebrian","year":"2003","journal-title":"J Med Genet"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1111\/j.1365-2265.2007.02953.x","article-title":"MEN1 gene mutations in Hungarian patients with multiple endocrine neoplasia type 1","volume":"67","author":"K Balogh","year":"2007","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/s12672-015-0228-z","article-title":"Thymic and Bronchial Carcinoid Tumors in Multiple Endocrine Neoplasia Type 1: The Mayo Clinic Experience from 1977 to 2013","volume":"6","author":"NS Ospina","year":"2015","journal-title":"Horm Cancer"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"14659","DOI":"10.1073\/pnas.0503484102","article-title":"Menin regulates pancreatic islet growth by promoting histone methylation and expression of genes encoding p27Kip1 and p18INK4c","volume":"102","author":"SK Karnik","year":"2005","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref53","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1073\/pnas.0408836102","article-title":"Menin and MLL cooperatively regulate expression of cyclin-dependent kinase inhibitors","volume":"102","author":"TA Milne","year":"2005","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref54","first-page":"781","article-title":"Multiple endocrine neoplasia syndromes associated with mutation of p27","volume":"36","author":"M Lee","year":"2013","journal-title":"J Endocrinol Invest"},{"key":"ref55","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2015\/510985","article-title":"Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in <italic>CDKN1B<\/italic>","volume":"2015","author":"MS Elston","year":"2015","journal-title":"Case Rep Endocrinol"},{"key":"ref56","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1007\/s12020-015-0540-y","article-title":"Early onset acromegaly associated with a novel deletion in CDKN1B 5\u2019UTR region","volume":"49","author":"S Sambugaro","year":"2015","journal-title":"Endocrine"},{"key":"ref57","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1530\/EC-13-0046","article-title":"CDC73 mutational status and loss of parafibromin in the outcome of parathyroid cancer","volume":"2","author":"F Cetani","year":"2013","journal-title":"Endocr Connect"},{"key":"ref58","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1111\/j.1365-2265.2012.04445.x","article-title":"Familial pituitary adenomas\u2014Who should be tested for AIP mutations?","volume":"77","author":"M Korbonits","year":"2012","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref59","article-title":"Aryl Hydrocarbon Receptor\u2013Interacting Protein (AIP) N-Terminus Gene Mutations Identified in Pituitary Adenoma Patients Alter Protein Stability and Function","author":"R Formosa","year":"2017","journal-title":"Horm Cancer"},{"key":"ref60","first-page":"97","article-title":"The p.R16H (C.47G&gt;A) AIP gene variant in a case with invasive non-functioning pituitary macroadenoma and Screening of a Control Cohort","volume":"9","author":"I Baciu","year":"2013","journal-title":"Acta Endocrinol (Copenh)"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1038\/sj.bjc.6603573","article-title":"Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers","volume":"96","author":"M Georgitsi","year":"2007","journal-title":"Br J Cancer"},{"key":"ref62","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1097\/00000658-193612000-00002","article-title":"Hyperparathyroidism in siblings","volume":"104","author":"L Goldman","year":"1936","journal-title":"Ann Surg"},{"key":"ref63","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1016\/0002-9343(67)90114-3","article-title":"The relationship of hereditary hyperparathyroidism to endocrine adenomatosis","volume":"43","author":"C Jackson","year":"1967","journal-title":"Am J Med"},{"key":"ref64","first-page":"542","article-title":"Hyperparathyroidism","volume":"204","author":"AL Graber","year":"1968","journal-title":"JAMA"},{"key":"ref65","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1016\/S0002-9343(70)80004-3","article-title":"Myopathy in primary familial hyperparathyroidism: Clinical and morphologic studies","volume":"48","author":"EJ Cholod","year":"1970","journal-title":"Am J Med"},{"key":"ref66","first-page":"1","article-title":"Familial hyperparathyroidism (report of three cases)","volume":"1966","author":"FE Medford","year":"1970","journal-title":"W V Med J"},{"key":"ref67","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1136\/bmj.3.5766.87","article-title":"Familial Hyperparathyroidism","author":"P Marsden","year":"1971","journal-title":"Br Med J"},{"key":"ref68","doi-asserted-by":"crossref","first-page":"109","DOI":"10.3109\/03009737409178978","article-title":"Familial hyperparathyroidism","volume":"79","author":"S Grevsten","year":"1974","journal-title":"Upsala J Med Sci"},{"key":"ref69","doi-asserted-by":"crossref","first-page":"36","DOI":"10.7326\/0003-4819-84-1-36","article-title":"Familial hyperparathyroidism. Description of a large kindred with physiologic observations and a review of the literature","volume":"84","author":"R Goldsmith","year":"1976","journal-title":"Ann Intern Med"},{"key":"ref70","doi-asserted-by":"crossref","first-page":"614","DOI":"10.7326\/0003-4819-85-5-614","article-title":"Familial Hyperparathyroidism","volume":"85","author":"T Christensson","year":"1976","journal-title":"Ann Intern Med"},{"key":"ref71","first-page":"792","article-title":"Primary hyperparathyroidism with multiple parathyroid gland enlargement: review of 53 cases","volume":"53","author":"D Scholz","year":"1978","journal-title":"Mayo Clin Proc"},{"key":"ref72","first-page":"486","article-title":"Familial hyperparathyroidism caused by solitary adenomas","volume":"92","author":"M Allo","year":"1982","journal-title":"Surgery"},{"key":"ref73","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1056\/NEJM198309153091107","article-title":"Autosomal recessive inheritance of familial hyperparathyroidism","volume":"309","author":"W Law","year":"1983","journal-title":"N Engl J Med"},{"key":"ref74","first-page":"3427","article-title":"Recurrent familial hyperparathyroidism. A propos of 7 adenomas in 3 members of the same family. Review of the literature","volume":"59","author":"P Doury","year":"1983","journal-title":"Sem Hop"},{"key":"ref75","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1002\/1097-0142(19870801)60:3<429::AID-CNCR2820600325>3.0.CO;2-3","article-title":"Familial Hyperparathyroidism in Association With Colonic Carcinoma","volume":"60","author":"D Feig","year":"1987","journal-title":"Cancer"},{"key":"ref76","doi-asserted-by":"crossref","first-page":"712","DOI":"10.2169\/internalmedicine.31.712","article-title":"Familial Primary Hyperparathyroidism: Study of the pedigree in three generations","volume":"31","author":"M Todaka","year":"1992","journal-title":"Intern Med"},{"key":"ref77","first-page":"1485","article-title":"Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer","volume":"77","author":"WS Wassif","year":"1993","journal-title":"J Clin Endocrinol Metab"},{"key":"ref78","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1007\/s00774-013-0551-9","article-title":"Genetic basis of familial isolated hyperparathyroidism: A case series and a narrative review of the literature","volume":"32","author":"N Pontikides","year":"2014","journal-title":"J Bone Miner Metab"},{"key":"ref79","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1017\/S0016672313000141","article-title":"Missense mutation in the MEN1 gene discovered through whole exome sequencing co-segregates with familial hyperparathyroidism","volume":"95","author":"O Isakov","year":"2013","journal-title":"Genet Res (Camb)"},{"key":"ref80","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1007\/BF03401311","article-title":"Familial isolated primary hyperparathyroidism due to HRPT2 mutation","volume":"12","author":"A Ghemigian","year":"2013","journal-title":"Hormones"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1111\/cen.12461","article-title":"Familial isolated primary hyperparathyroidism\/hyperparathyroidism-jaw tumour syndrome caused by germline gross deletion or point mutations of CDC73 gene in Chinese","volume":"81","author":"J Kong","year":"2014","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref82","doi-asserted-by":"crossref","first-page":"3044","DOI":"10.1210\/jc.2014-1481","article-title":"CDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinoma","volume":"99","author":"E Korpi-Hy\u00f6v\u00e4lti","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"ref83","first-page":"185","article-title":"Case Report An adolescent case of familial hyperparathyroidism with a germline frameshift mutation of the CDC73 gene","volume":"24","author":"T Takeuchi","year":"2015"},{"key":"ref84","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1349-7006.1998.tb00470.x","article-title":"A large germline deletion of the MEN1 gene in a family with multiple endocrine neoplasia type 1","volume":"89","author":"M Kishi","year":"1998","journal-title":"Japanese J cancer Res"},{"key":"ref85","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.canlet.2003.10.011","article-title":"Gene dose mapping delineated boundaries of a large germline deletion responsible for multiple endocrine neoplasia type 1","volume":"208","author":"M Kikuchi","year":"2004","journal-title":"Cancer Lett"},{"key":"ref86","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1054\/bjoc.2000.1380","article-title":"Identification of MEN1 gene mutations in families with MEN 1 and related disorders","volume":"83","author":"L Bergman","year":"2000","journal-title":"Br J Cancer"},{"key":"ref87","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1046\/j.1365-2265.2002.01505.x","article-title":"Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions","volume":"56","author":"BM Cavaco","year":"2002","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref88","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1093\/jjco\/hyl089","article-title":"A whole MEN1 gene deletion flanked by alu repeats in a family with multiple endocrine neoplasia type 1","volume":"36","author":"A Fukuuchi","year":"2006","journal-title":"Jpn J Clin Oncol"},{"key":"ref89","doi-asserted-by":"crossref","first-page":"3389","DOI":"10.1210\/jc.2007-0476","article-title":"Clinical testing for mutations in the MEN1 gene in Sweden: A report on 200 unrelated cases","volume":"92","author":"E Tham","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"ref90","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1016\/S0210-5705(08)75811-4","article-title":"Caracteristicas clinicas y moleculares de una familia con sindrome de neoplasia endocrina multiple tipo 1","volume":"31","author":"A Cosme","year":"2008","journal-title":"Gastroenterol Hepatol"},{"key":"ref91","first-page":"273","article-title":"Deletion of exons 1\u20133 of the MEN1 gene in a large Italian family causes the loss of menin expression","volume":"13","author":"MC Zatelli","year":"2014","journal-title":"Fam Cancer"},{"key":"ref92","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1530\/EDM-16-0011","article-title":"An unusual phenotype of MEN1 syndrome with a SI-NEN associated with a deletion of the MEN1 gene","volume":"2016","author":"J Manoharan","year":"2016","journal-title":"Endocrinol Diabetes Metab Case Reports"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0186485","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,27]],"date-time":"2024-06-27T16:23:25Z","timestamp":1719505405000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0186485"}},"subtitle":[],"editor":[{"given":"Klaus","family":"Brusgaard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2017,10,16]]},"references-count":92,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2017,10,16]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0186485","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,10,16]]}}}