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HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J, Simonds WF, Gillanders EM, Kennedy AM, Chen JD, Agarwal SK, Sood R, Jones MP, Moses TY, Haven C, Petillo D, Leotlela PD, Harding B, Cameron D, Pannett AA, Höög A, Heath H 3rd, James-Newton LA, Robinson B, Zarbo RJ, Cavaco BM, Wassif W, Perrier ND, Rosen IB, Kristoffersson U, Turnpenny PD, Farnebo LO, Besser GM, Jackson CE, Morreau H, Trent JM, Thakker RV, Marx SJ, Teh BT, Larsson C, Hobbs MR. Carpten JD, et al. Among authors: wassif w. Nat Genet. 2002 Dec;32(4):676-80. doi: 10.1038/ng1048. Epub 2002 Nov 18. Nat Genet. 2002. PMID: 12434154
Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism.
Villablanca A, Wassif WS, Smith T, Höög A, Vierimaa O, Kassem M, Dwight T, Forsberg L, Du Q, Learoyd D, Jones K, Stranks S, Juhlin C, Teh BT, Carling T, Robinson B, Larsson C. Villablanca A, et al. Eur J Endocrinol. 2002 Sep;147(3):313-22. doi: 10.1530/eje.0.1470313. Eur J Endocrinol. 2002. PMID: 12213668
Alternative genetic pathways in parathyroid tumorigenesis.
Farnebo F, Kytölä S, Teh BT, Dwight T, Wong FK, Höög A, Elvius M, Wassif WS, Thompson NW, Farnebo LO, Sandelin K, Larsson C. Farnebo F, et al. Among authors: wassif ws. J Clin Endocrinol Metab. 1999 Oct;84(10):3775-80. doi: 10.1210/jcem.84.10.6057. J Clin Endocrinol Metab. 1999. PMID: 10523029
Acute intermittent porphyria: diagnostic conundrums.
Wassif WS, Deacon AC, Floderus Y, Thunell S, Peters TJ. Wassif WS, et al. Eur J Clin Chem Clin Biochem. 1994 Dec;32(12):915-21. doi: 10.1515/cclm.1994.32.12.915. Eur J Clin Chem Clin Biochem. 1994. PMID: 7696440
49 results