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Results: 1 to 20 of 93

1.

[Hereditary variants of primary hyperparathyroidism--MEN1, MEN2, HPT-JT, FHH, FIHPT].

Frank-Raue K, Leidig-Bruckner G, Lorenz A, Rondot S, Haag C, Schulze E, Büchler M, Raue F.

Dtsch Med Wochenschr. 2011 Sep;136(38):1889-94. doi: 10.1055/s-0031-1286358. Epub 2011 Sep 13. German.

PMID:
21915802
[PubMed - in process]
2.

Hyperparathyroidism in hereditary syndromes: special expressions and special managements.

Marx SJ, Simonds WF, Agarwal SK, Burns AL, Weinstein LS, Cochran C, Skarulis MC, Spiegel AM, Libutti SK, Alexander HR Jr, Chen CC, Chang R, Chandrasekharappa SC, Collins FS.

J Bone Miner Res. 2002 Nov;17 Suppl 2:N37-43. Review.

PMID:
12412776
[PubMed - indexed for MEDLINE]
3.

Genetic defects associated with familial and sporadic hyperparathyroidism.

Hendy GN, Cole DE.

Front Horm Res. 2013;41:149-65. doi: 10.1159/000345675. Epub 2013 Mar 19.

PMID:
23652676
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

CDC73-Related Disorders.

Rich TA, Hu MI, Martin JW, Perrier ND, Waguespack SG.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2008 Dec 31 [updated 2012 May 24].

PMID:
20301744
[PubMed]
Books & Documents
7.

Molecular genetics of primary and secondary hyperparathyroidism.

Dotzenrath C, Goretzki PE, Farnebo F, Teh BT, Weber G, Röher HD, Larsson C.

Exp Clin Endocrinol Diabetes. 1996;104 Suppl 4:105-7. Review.

PMID:
8981014
[PubMed - indexed for MEDLINE]
8.

Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management.

Cetani F, Pardi E, Ambrogini E, Lemmi M, Borsari S, Cianferotti L, Vignali E, Viacava P, Berti P, Mariotti S, Pinchera A, Marcocci C.

Clin Endocrinol (Oxf). 2006 Feb;64(2):146-52.

PMID:
16430712
[PubMed - indexed for MEDLINE]
9.

Molecular pathogenesis of primary hyperparathyroidism.

Cetani F, Pardi E, Borsari S, Marcocci C.

J Endocrinol Invest. 2011 Jul;34(7 Suppl):35-9. Review.

PMID:
21985978
[PubMed - indexed for MEDLINE]
10.

Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1).

Turner JJ, Christie PT, Pearce SH, Turnpenny PD, Thakker RV.

Hum Mutat. 2010 Jan;31(1):E1089-101. doi: 10.1002/humu.21170.

PMID:
19953642
[PubMed - indexed for MEDLINE]
11.

Familial isolated hyperparathyroidism caused by single adenoma: a distinct entity different from multiple endocrine neoplasia.

Watanabe T, Tsukamoto F, Shimizu T, Sugimoto T, Taguchi T, Nishisho I, Nakazawa H, Shiba E, Shishiba Y, Takai S.

Endocr J. 1998 Oct;45(5):637-46. Review.

PMID:
10395244
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.

Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, Hill P, Perry-Keene D, Learoyd D, Robinson B, Birdsey P, Mackenzie E, Teh BT, Prins JB, Cardinal J.

J Med Genet. 2004 Mar;41(3):155-60.

PMID:
14985373
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.

Simonds WF, Robbins CM, Agarwal SK, Hendy GN, Carpten JD, Marx SJ.

J Clin Endocrinol Metab. 2004 Jan;89(1):96-102.

PMID:
14715834
[PubMed - indexed for MEDLINE]
15.

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene.

Hannan FM, Nesbit MA, Christie PT, Fratter C, Dudley NE, Sadler GP, Thakker RV.

Nat Clin Pract Endocrinol Metab. 2008 Jan;4(1):53-8.

PMID:
18084346
[PubMed - indexed for MEDLINE]
16.

Parathyroid surgery in familial hyperparathyroid disorders.

Carling T, Udelsman R.

J Intern Med. 2005 Jan;257(1):27-37. Review.

PMID:
15606374
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias.

Gill AJ, Clarkson A, Gimm O, Keil J, Dralle H, Howell VM, Marsh DJ.

Am J Surg Pathol. 2006 Sep;30(9):1140-9.

PMID:
16931959
[PubMed - indexed for MEDLINE]
19.

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

Skandarajah A, Barlier A, Morlet-Barlat N, Sebag F, Enjalbert A, Conte-Devolx B, Henry JF.

World J Surg. 2010 Jun;34(6):1294-8. doi: 10.1007/s00268-009-0388-5.

PMID:
20058152
[PubMed - indexed for MEDLINE]
20.

Prospective study of surgery for primary hyperparathyroidism (HPT) in multiple endocrine neoplasia-type 1 and Zollinger-Ellison syndrome: long-term outcome of a more virulent form of HPT.

Norton JA, Venzon DJ, Berna MJ, Alexander HR, Fraker DL, Libutti SK, Marx SJ, Gibril F, Jensen RT.

Ann Surg. 2008 Mar;247(3):501-10. doi: 10.1097/SLA.0b013e31815efda5.

PMID:
18376196
[PubMed - indexed for MEDLINE]
Free PMC Article

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