Literature DB >> 14985403

Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP).

A Villablanca1, A Calender, L Forsberg, A Höög, J-D Cheng, D Petillo, C Bauters, K Kahnoski, T Ebeling, P Salmela, A-L Richardson, L Delbridge, A Meyrier, C Proye, J D Carpten, B T Teh, B G Robinson, C Larsson.   

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Year:  2004        PMID： 14985403      PMCID： PMC1735713          DOI： 10.1136/jmg.2003.012369

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  25 in total

1.  [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 2.  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

3.  Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.

Authors:  Viive M Howell; John W Cardinal; Anne-Louise Richardson; Oliver Gimm; Bruce G Robinson; Deborah J Marsh
Journal:  J Mol Diagn       Date:  2006-11       Impact factor: 5.568

4.  The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II.

Authors:  Armelle Yart; Matthias Gstaiger; Christiane Wirbelauer; Maria Pecnik; Dimitrios Anastasiou; Daniel Hess; Wilhelm Krek
Journal:  Mol Cell Biol       Date:  2005-06       Impact factor: 4.272

Review 5.  Clinical and molecular genetics of parathyroid neoplasms.

Authors:  John M Sharretts; William F Simonds
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2010-06       Impact factor: 4.690

Review 6.  Parathyroid cancer.

Authors:  John M Sharretts; Electron Kebebew; William F Simonds
Journal:  Semin Oncol       Date:  2010-12       Impact factor: 4.929

7.  Hyperparathyroidism-jaw tumor syndrome: Results of operative management.

Authors:  Amit Mehta; Dhaval Patel; Avi Rosenberg; Myriem Boufraqech; Ryan J Ellis; Naris Nilubol; Martha M Quezado; Stephen J Marx; William F Simonds; Electron Kebebew
Journal:  Surgery       Date:  2014-10-16       Impact factor: 3.982

8.  Cystic parathyroid glands in MEN1: A rare entity?

Authors:  Tiziana Cavalli; Francesco Giudici; Gabriella Nesi; Andrea Amorosi; Raffaella Santi; Maria Luisa Brandi; Francesco Tonelli
Journal:  Fam Cancer       Date:  2017-04       Impact factor: 2.375

9.  Should routine analysis of the MEN1 gene be performed in all patients with primary hyperparathyroidism under 40 years of age?

Authors:  Anita Skandarajah; Anne Barlier; Nathalie Morlet-Barlat; Frederic Sebag; Alain Enjalbert; Bernard Conte-Devolx; Jean-François Henry
Journal:  World J Surg       Date:  2010-06       Impact factor: 3.352

10.  The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene.

Authors:  Ling Lin; Jian-Hua Zhang; Leelamma M Panicker; William F Simonds
Journal:  Proc Natl Acad Sci U S A       Date:  2008-11-05       Impact factor: 11.205
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