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Results: 1 to 20 of 138

Similar articles for PubMed (Select 7717405)

1.

Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31.

Szabó J, Heath B, Hill VM, Jackson CE, Zarbo RJ, Mallette LE, Chew SL, Besser GM, Thakker RV, Huff V, et al.

Am J Hum Genet. 1995 Apr;56(4):944-50.

2.

Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q.

Hobbs MR, Pole AR, Pidwirny GN, Rosen IB, Zarbo RJ, Coon H, Heath H 3rd, Leppert M, Jackson CE.

Am J Hum Genet. 1999 Feb;64(2):518-25.

3.

Genetic studies of a family with hereditary hyperparathyroidism-jaw tumour syndrome.

Wassif WS, Farnebo F, Teh BT, Moniz CF, Li FY, Harrison JD, Peters TJ, Larsson C, Harris P.

Clin Endocrinol (Oxf). 1999 Feb;50(2):191-6.

PMID:
10396361
4.

The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred.

Cavaco BM, Barros L, Pannett AA, Ruas L, Carvalheiro M, Ruas MM, Krausz T, Santos MA, Sobrinho LG, Leite V, Thakker RV.

QJM. 2001 Apr;94(4):213-22.

5.

Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas.

Teh BT, Farnebo F, Kristoffersson U, Sundelin B, Cardinal J, Axelson R, Yap A, Epstein M, Heath H 3rd, Cameron D, Larsson C.

J Clin Endocrinol Metab. 1996 Dec;81(12):4204-11.

PMID:
8954016
6.

Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome.

Mizusawa N, Uchino S, Iwata T, Tsuyuguchi M, Suzuki Y, Mizukoshi T, Yamashita Y, Sakurai A, Suzuki S, Beniko M, Tahara H, Fujisawa M, Kamata N, Fujisawa K, Yashiro T, Nagao D, Golam HM, Sano T, Noguchi S, Yoshimoto K.

Clin Endocrinol (Oxf). 2006 Jul;65(1):9-16.

PMID:
16817812
7.

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.

Nat Genet. 2002 Dec;32(4):676-80. Epub 2002 Nov 18.

PMID:
12434154
8.

Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families.

Teh BT, Farnebo F, Twigg S, Höög A, Kytölä S, Korpi-Hyövälti E, Wong FK, Nordenström J, Grimelius L, Sandelin K, Robinson B, Farnebo LO, Larsson C.

J Clin Endocrinol Metab. 1998 Jun;83(6):2114-20.

PMID:
9626148
9.

Genetic analysis of the MEN1 gene and HPRT2 locus in two Italian kindreds with familial isolated hyperparathyroidism.

Cetani F, Pardi E, Giovannetti A, Vignali E, Borsari S, Golia F, Cianferotti L, Viacava P, Miccoli P, Gasperi M, Pinchera A, Marcocci C.

Clin Endocrinol (Oxf). 2002 Apr;56(4):457-64.

PMID:
11966738
10.

Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred.

Iacobone M, Masi G, Barzon L, Porzionato A, Macchi V, Ciarleglio FA, Palù G, De Caro R, Viel G, Favia G.

Langenbecks Arch Surg. 2009 Sep;394(5):817-25. doi: 10.1007/s00423-009-0511-y. Epub 2009 Jun 16.

PMID:
19529956
11.

A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome.

Haven CJ, Wong FK, van Dam EW, van der Juijt R, van Asperen C, Jansen J, Rosenberg C, de Wit M, Roijers J, Hoppener J, Lips CJ, Larsson C, Teh BT, Morreau H.

J Clin Endocrinol Metab. 2000 Apr;85(4):1449-54.

PMID:
10770180
12.

Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome.

Jackson CE, Norum RA, Boyd SB, Talpos GB, Wilson SD, Taggart RT, Mallette LE.

Surgery. 1990 Dec;108(6):1006-12; discussion 1012-3.

PMID:
2123361
13.

Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31.

Williamson C, Cavaco BM, Jauch A, Dixon PH, Forbes S, Harding B, Holtgreve-Grez H, Schoell B, Pereira MC, Font AP, Loureiro MM, Sobrinho LG, Santos MA, Thakker RV.

J Bone Miner Res. 1999 Feb;14(2):230-9. Erratum in: J Bone Miner Res 1999 Aug;14(8):1472. Jausch A [corrected to Jauch A].

PMID:
9933477
14.
15.

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

Bradley KJ, Cavaco BM, Bowl MR, Harding B, Cranston T, Fratter C, Besser GM, Conceição Pereira M, Davie MW, Dudley N, Leite V, Sadler GP, Seller A, Thakker RV.

Clin Endocrinol (Oxf). 2006 Mar;64(3):299-306.

PMID:
16487440
16.

Tumor suppressor gene mutation in a patient with a history of hyperparathyroidism-jaw tumor syndrome and healed generalized osteitis fibrosa cystica: a case report and genetic pathophysiology review.

Parfitt J, Harris M, Wright JM, Kalamchi S.

J Oral Maxillofac Surg. 2015 Jan;73(1):194.e1-9. doi: 10.1016/j.joms.2014.09.008. Epub 2014 Sep 28. Review.

PMID:
25511968
17.

Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.

Shattuck TM, Välimäki S, Obara T, Gaz RD, Clark OH, Shoback D, Wierman ME, Tojo K, Robbins CM, Carpten JD, Farnebo LO, Larsson C, Arnold A.

N Engl J Med. 2003 Oct 30;349(18):1722-9.

18.

Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.

Cavaco BM, Guerra L, Bradley KJ, Carvalho D, Harding B, Oliveira A, Santos MA, Sobrinho LG, Thakker RV, Leite V.

J Clin Endocrinol Metab. 2004 Apr;89(4):1747-52.

PMID:
15070940
19.

Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome.

Bradley KJ, Hobbs MR, Buley ID, Carpten JD, Cavaco BM, Fares JE, Laidler P, Manek S, Robbins CM, Salti IS, Thompson NW, Jackson CE, Thakker RV.

J Intern Med. 2005 Jan;257(1):18-26.

PMID:
15606373
20.

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.

J Med Genet. 2003 Sep;40(9):657-63. Erratum in: J Med Genet. 2004 Jan;41(1):20.

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