{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T17:39:22Z","timestamp":1783618762864,"version":"3.55.0"},"reference-count":0,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2002,8,1]],"date-time":"2002-08-01T00:00:00Z","timestamp":1028160000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["World j. surg."],"published-print":{"date-parts":[[2002,8]]},"abstract":"<jats:p>\nA large number of families with familial isolated hyperparathyroidism (FIHP) have been reported. We wanted to determine if some of these families represent early manifestations of full\u2010blown syndromes such as multiple endocrine neoplasia type 1\n(MEN\u20101), as early identification may alter surgical and medical management. Four small families with a family history of hyperparathyroidism without clear\u2010cut MEN\u20101 features were screened for a MEN1\u00a0mutation. The 10 exons of the MEN1 gene were amplified and analyzed by single\u2010strand conformation analysis\n(SSCA). Abnormal SSCA shifts were then sequenced using an automated sequencer. Two germline mutations were found: R527X and P277H. The former was detected in three members of a family consisting of two children and a mother. At the time of testing the youngest son was normocalcemic and clinically normal but subsequently developed hyperparathyroidism (HPT). Since the initial testing, the family has been confirmed to be a MEN\u20101 family as the mother has developed abdominal pain and an elevated serum pancreatic polypeptide and the younger brother an anterior pituitary tumor and recurrent HPT. The latter P277H mutation was identified in two of three members tested from another family. Manifestations of MEN\u20101 syndrome have also developed. The father now has developed diarrhea and elevated serum gastrin; and the daughter has developed recurrent HPT. Genetic screening of families who clinically have FIHP is important and may influence the type of medical and surgical treatment and follow\u2010up, as some have MEN\u20101 syndrome. Long\u2010term screening for MEN syndromes should be included in this set of patients. Positive screening may predict disease and allow early detection and appropriate treatment before initiation of symptoms.\n<\/jats:p>","DOI":"10.1007\/s00268-002-6617-9","type":"journal-article","created":{"date-parts":[[2002,10,14]],"date-time":"2002-10-14T16:45:16Z","timestamp":1034613916000},"page":"907-913","source":"Crossref","is-referenced-by-count":18,"title":["Genetic Screening for MEN1\u00a0Mutations in Families Presenting with Familial Primary Hyperparathyroidism"],"prefix":"10.1002","volume":"26","author":[{"given":"Nancy D.","family":"Perrier","sequence":"first","affiliation":[{"name":"Department of Surgery University of California at San Francisco\/Mt. Zion Medical Center 1600 Divisadero Street San Francisco California 94143 USA<!--<country1>USA<\/country1>-->"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Villablanca","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine Karolinska Hospital CMM L8:01 Stockholm SE\u2010171 76 Sweden<!--<country1>SWEDEN<\/country1>-->"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catharina","family":"Larsson","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine Karolinska Hospital CMM L8:01 Stockholm SE\u2010171 76 Sweden<!--<country1>SWEDEN<\/country1>-->"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariwil","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Surgery Division of Surgical Oncology Wake Forest University Medical Center Medical Center Boulevard Winston\u2010Salem North Carolina 27157 USA<!--<country1>USA<\/country1>-->"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Ituarte","sequence":"additional","affiliation":[{"name":"Department of Surgery Division of Surgical Oncology Wake Forest University Medical Center Medical Center Boulevard Winston\u2010Salem North Carolina 27157 USA<!--<country1>USA<\/country1>-->"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin Tean","family":"Teh","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine Karolinska Hospital CMM L8:01 Stockholm SE\u2010171 76 Sweden<!--<country1>SWEDEN<\/country1>-->"},{"name":"Laboratory of Cancer Genetics Van Andel Research Institute 333 Bostic NE Grand Rapids Michigan 49503 USA<!--<country1>USA<\/country1>-->"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orlo H.","family":"Clark","sequence":"additional","affiliation":[{"name":"Department of Surgery Division of Surgical Oncology Wake Forest University Medical Center Medical Center Boulevard Winston\u2010Salem North Carolina 27157 USA<!--<country1>USA<\/country1>-->"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,8]]},"container-title":["World Journal of Surgery"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00268-002-6617-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00268-002-6617-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s00268-002-6617-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,27]],"date-time":"2023-12-27T20:18:26Z","timestamp":1703708306000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s00268-002-6617-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,8]]},"references-count":0,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2002,8]]}},"alternative-id":["10.1007\/s00268-002-6617-9"],"URL":"https:\/\/doi.org\/10.1007\/s00268-002-6617-9","archive":["Portico"],"relation":{},"ISSN":["0364-2313","1432-2323"],"issn-type":[{"value":"0364-2313","type":"print"},{"value":"1432-2323","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,8]]}}}