Literature DB >> 9792884

A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.

B T Teh, C T Esapa, R Houlston, U Grandell, F Farnebo, M Nordenskjöld, C J Pearce, D Carmichael, C Larsson, P E Harris.   

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Year:  1998        PMID： 9792884      PMCID： PMC1377566          DOI： 10.1086/302097

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  18 in total

1.  A novel germline mutation of MEN 1 gene in a patient with acromegaly and multiple endocrine tumors.

Authors:  G Pinna; G Orgiana; C Carcassi; F Alba; F Cetani; E Pardi; C Marcocci; S Mariotti
Journal:  J Endocrinol Invest       Date:  2004-06       Impact factor: 4.256

2.  [Prophylactic parathyroidectomy for familial parathyroid carcinoma].

Authors:  O Gimm; K Lorenz; P Nguyen Thanh; U Schneyer; M Bloching; V M Howell; D J Marsh; B T Teh; U Krause; H Dralle
Journal:  Chirurg       Date:  2006-01       Impact factor: 0.955

Review 3.  Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature.

Authors:  Nikolaos Pontikides; Spyridon Karras; Athina Kaprara; Panagiotis Anagnostis; Gesthimani Mintziori; Dimitrios G Goulis; Eleni Memi; Gerasimos Krassas
Journal:  J Bone Miner Metab       Date:  2014-01-19       Impact factor: 2.626

4.  New Concepts About Familial Isolated Hyperparathyroidism.

Authors:  Stephen J Marx
Journal:  J Clin Endocrinol Metab       Date:  2019-03-08       Impact factor: 5.958

Review 5.  The MEN1 gene and associated diseases: an update.

Authors:  T Tsukada; K Yamaguchi; T Kameya
Journal:  Endocr Pathol       Date:  2001       Impact factor: 3.943

6.  Hyperparathyroidism in multiple endocrine neoplasia type I: surgical trends and results of a 256-patient series from Groupe D'etude des Néoplasies Endocriniennes Multiples Study Group.

Authors:  P Goudet; P Cougard; B Vergès; A Murat; B Carnaille; A Calender; J Faivre; C Proye
Journal:  World J Surg       Date:  2001-07       Impact factor: 3.352

Review 7.  Detecting low penetrance genes in cancer: the way ahead.

Authors:  R S Houlston; I P Tomlinson
Journal:  J Med Genet       Date:  2000-03       Impact factor: 6.318

8.  Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway.

Authors:  Hiroko Yaguchi; Naganari Ohkura; Maho Takahashi; Yuko Nagamura; Issay Kitabayashi; Toshihiko Tsukada
Journal:  Mol Cell Biol       Date:  2004-08       Impact factor: 4.272

9.  MEN1 gene alterations do not correlate with the phenotype of sporadic primary hyperparathyroidism.

Authors:  F Cetani; E Pardi; E Vignali; S Borsari; A Picone; L Cianferotti; E Ambrogini; P Miccoli; A Pinchera; C Marcocci
Journal:  J Endocrinol Invest       Date:  2002-06       Impact factor: 4.256

10.  Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.

Authors:  O Vierimaa; A Villablanca; A Alimov; M Georgitsi; A Raitila; P Vahteristo; C Larsson; A Ruokonen; E Eloranta; T M L Ebeling; J Ignatius; L A Aaltonen; J Leisti; P I Salmela
Journal:  J Endocrinol Invest       Date:  2009-03-26       Impact factor: 4.256
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