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Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.
Teh BT, Howell VM, Haven CJ, Kahnoski K, Khoo SK, Petillo D, Chen J, Fleuren GJ, Robinson BG, Delbridge LW, Philips J, Nelson AE, Krause U, Hammje K, Dralle H, Hoang-Vu C, Gimm O, Marsh DJ, Morreau H. Teh BT, et al. Among authors: petillo d. Hum Genet. 2004 Jan;114(2):222. doi: 10.1007/s00439-003-1060-z. Hum Genet. 2004. PMID: 15046094 No abstract available.
HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours.
Howell VM, Haven CJ, Kahnoski K, Khoo SK, Petillo D, Chen J, Fleuren GJ, Robinson BG, Delbridge LW, Philips J, Nelson AE, Krause U, Hammje K, Dralle H, Hoang-Vu C, Gimm O, Marsh DJ, Morreau H, Teh BT. Howell VM, et al. Among authors: petillo d. J Med Genet. 2003 Sep;40(9):657-63. doi: 10.1136/jmg.40.9.657. J Med Genet. 2003. PMID: 12960210 Free PMC article.
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.
Teh BT, Howell VM, Haven CJ, Kahnoski K, Khoo SK, Petillo D, Chen J, Fleuren GJ, Robinson BG, Delbridge LW, Philips J, Nelson AE, Krause U, Hammje K, Dralle H, Hoang-Vu C, Gimm O, Marsh DJ, Morreau H. Teh BT, et al. Among authors: petillo d. Hum Genet. 2004 Jan;114(2):221. doi: 10.1007/s00439-003-1060-z. Hum Genet. 2004. PMID: 15046050 No abstract available.
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.
Teh BT, Howell VM, Haven CJ, Kahnoski K, Khoo SK, Petillo D, Chen J, Fleuren GJ, Robinson BG, Delbridge LW, Philips J, Nelson AE, Krause U, Hammje K, Dralle H, Hoang-Vu C, Gimm O, Marsh DJ, Morreau H. Teh BT, et al. Among authors: petillo d. Hum Genet. 2004 Jan;114(2):222. doi: 10.1007/s00439-003-1060-z. Hum Genet. 2004. PMID: 15046098 No abstract available.
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.
Teh BT, Howell VM, Haven CJ, Kahnoski K, Khoo SK, Petillo D, Chen J, Fleuren GJ, Robinson BG, Delbridge LW, Philips J, Nelson AE, Krause U, Hammje K, Dralle H, Hoang-Vu C, Gimm O, Marsh DJ, Morreau H. Teh BT, et al. Among authors: petillo d. Hum Genet. 2004 Jan;114(2):223. doi: 10.1007/s00439-003-1060-z. Hum Genet. 2004. PMID: 15046102 No abstract available.
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.
Teh BT, Howell VM, Haven CJ, Kahnoski K, Khoo SK, Petillo D, Chen J, Fleuren GJ, Robinson BG, Delbridge LW, Philips J, Nelson AE, Krause U, Hammje K, Dralle H, Hoang-Vu C, Gimm O, Marsh DJ, Morreau H. Teh BT, et al. Among authors: petillo d. Hum Genet. 2004 Jan;114(2):223. doi: 10.1007/s00439-003-1060-z. Hum Genet. 2004. PMID: 15046105 No abstract available.
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.
Teh BT, Howell VM, Haven CJ, Kahnoski K, Khoo SK, Petillo D, Chen J, Fleuren GJ, Robinson BG, Delbridge LW, Philips J, Nelson AE, Krause U, Hammje K, Dralle H, Hoang-Vu C, Gimm O, Marsh DJ, Morreau H. Teh BT, et al. Among authors: petillo d. Hum Genet. 2004 Jan;114(2):223. doi: 10.1007/s00439-003-1060-z. Hum Genet. 2004. PMID: 15046107 No abstract available.
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.
Teh BT, Howell VM, Haven CJ, Kahnoski K, Khoo SK, Petillo D, Chen J, Fleuren GJ, Robinson BG, Delbridge LW, Philips J, Nelson AE, Krause U, Hammje K, Dralle H, Hoang-Vu C, Gimm O, Marsh DJ, Morreau H. Teh BT, et al. Among authors: petillo d. Hum Genet. 2004 Jan;114(2):224. doi: 10.1007/s00439-003-1060-z. Hum Genet. 2004. PMID: 15046109 No abstract available.
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: petillo d. Nat Genet. 2002 Dec;32(4):676-80. doi: 10.1038/ng1048. Epub 2002 Nov 18. Nat Genet. 2002. PMID: 12434154
Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP).
Villablanca A, Calender A, Forsberg L, Höög A, Cheng JD, Petillo D, Bauters C, Kahnoski K, Ebeling T, Salmela P, Richardson AL, Delbridge L, Meyrier A, Proye C, Carpten JD, Teh BT, Robinson BG, Larsson C. Villablanca A, et al. Among authors: petillo d. J Med Genet. 2004 Mar;41(3):e32. doi: 10.1136/jmg.2003.012369. J Med Genet. 2004. PMID: 14985403 Free PMC article. No abstract available.
49 results