回复：家族性甲状旁腺功能亢进症：三个携带种系HRPT2突变的家族经过30年随访后的手术结果 - Suppr

Re: Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations.

作者信息

Guarnieri Vito, Bisceglia Michele, Bonfitto Nazzario, Cetani Filomena, Marcocci Claudio, Minisola Salvatore, Battista Claudia, Chiodini Iacopo, Cole David E C, Scillitani Alfredo

出版信息

Surgery. 2008 Nov;144(5):839-40. doi: 10.1016/j.surg.2008.08.008.

DOI:10.1016/j.surg.2008.08.008

PMID:19081034

Abstract

摘要

相似文献

Re: Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations.回复：家族性甲状旁腺功能亢进症：三个携带种系HRPT2突变的家族经过30年随访后的手术结果

Surgery. 2008 Nov;144(5):839-40. doi: 10.1016/j.surg.2008.08.008.

Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation.侵袭性甲状旁腺疾病早期检测的监测：与种系HRPT2突变相关的家族性孤立性甲状旁腺功能亢进症中的癌和非典型腺瘤。

J Bone Miner Res. 2006 Oct;21(10):1666-71. doi: 10.1359/jbmr.060702.

Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations.家族性甲状旁腺功能亢进症：三个携带种系HRPT2突变的家族经过30年随访后的手术结果

Surgery. 2008 May;143(5):630-40. doi: 10.1016/j.surg.2007.12.012. Epub 2008 Mar 17.

Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome.家族性孤立性甲状旁腺功能亢进症和甲状旁腺功能亢进-颌骨肿瘤综合征患者的基因分析。

Clin Endocrinol (Oxf). 2006 Jul;65(1):9-16. doi: 10.1111/j.1365-2265.2006.02534.x.

Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.散发性甲状旁腺癌中HRPT2基因的体细胞和生殖系突变。

N Engl J Med. 2003 Oct 30;349(18):1722-9. doi: 10.1056/NEJMoa031237.

Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism.家族性孤立性甲状旁腺功能亢进症中的副纤维蛋白表达、单腺受累及局限性甲状旁腺切除术

Surgery. 2007 Dec;142(6):984-91; discussion 984-91. doi: 10.1016/j.surg.2007.09.029.

Parathyroid carcinoma.甲状旁腺癌

J Surg Oncol. 2005 Mar 1;89(3):136-42. doi: 10.1002/jso.20182.

[Hyperparathyroidism-jaw tumor syndrome. A hereditary form of primary hyperparathyroidism with parathyroid carcinoma].[甲状旁腺功能亢进-颌骨肿瘤综合征。一种伴有甲状旁腺癌的原发性甲状旁腺功能亢进的遗传形式]

Dtsch Med Wochenschr. 2007 Jul 29;132(27):1459-62. doi: 10.1055/s-2007-982052.

Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance.伴有HRPT2突变的家族性孤立性甲状旁腺功能亢进症中甲状旁腺肿瘤的诊断：对癌症监测的意义

J Clin Endocrinol Metab. 2006 Aug;91(8):2827-32. doi: 10.1210/jc.2005-1239. Epub 2006 May 23.

Hyperparathyroidism-jaw tumor syndrome: Results of operative management.甲状旁腺功能亢进-颌骨肿瘤综合征：手术治疗结果

Surgery. 2014 Dec;156(6):1315-24; discussion 1324-5. doi: 10.1016/j.surg.2014.08.004. Epub 2014 Oct 16.

引用本文的文献

The Unforeseen Diagnosis: Hyperparathyroidism-Jaw Tumour Syndrome Case Report and Review of the Literature.意外诊断：甲状旁腺功能亢进-颌骨肿瘤综合征病例报告及文献综述

Case Rep Endocrinol. 2021 May 20;2021:5551203. doi: 10.1155/2021/5551203. eCollection 2021.

Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature.甲状旁腺功能亢进-颌骨肿瘤综合征的临床特征、治疗及监测：文献综述与最新进展

Int J Endocrinol. 2019 Dec 18;2019:1761030. doi: 10.1155/2019/1761030. eCollection 2019.

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.甲状旁腺癌的综合征型和非综合征型的分子遗传学。

Hum Mutat. 2017 Dec;38(12):1621-1648. doi: 10.1002/humu.23337. Epub 2017 Sep 25.

Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.一个三代甲状旁腺功能亢进-颌骨肿瘤（HPT-JT）综合征家系中 CDC73（exon4-10）大片段基因内缺失。

BMC Med Genet. 2017 Aug 3;18(1):83. doi: 10.1186/s12881-017-0445-0.

Hereditary hyperparathyroidism--a consensus report of the European Society of Endocrine Surgeons (ESES).遗传性甲状旁腺功能亢进症——欧洲内分泌外科医生协会（ESES）共识报告

Langenbecks Arch Surg. 2015 Dec;400(8):867-86. doi: 10.1007/s00423-015-1342-7. Epub 2015 Oct 8.

Hyperparathyroidism-jaw tumor syndrome: Results of operative management.甲状旁腺功能亢进-颌骨肿瘤综合征：手术治疗结果

Surgery. 2014 Dec;156(6):1315-24; discussion 1324-5. doi: 10.1016/j.surg.2014.08.004. Epub 2014 Oct 16.

Two cases of multiple ossifying fibromas in the jaws.两例颌骨多发性骨化性纤维瘤。

Diagn Pathol. 2014 Mar 28;9:75. doi: 10.1186/1746-1596-9-75.

Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.CDC73基因三个核仁定位信号（NoLS）突变的鉴定及功能表征

PLoS One. 2013 Dec 5;8(12):e82292. doi: 10.1371/journal.pone.0082292. eCollection 2013.

CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort.在甲状旁腺肿瘤中检测 CDC73 突变和甲状旁腺素免疫组化：单中心患者队列的临床相关性。

Cell Oncol (Dordr). 2012 Dec;35(6):411-22. doi: 10.1007/s13402-012-0100-x. Epub 2012 Sep 18.

Identification of de novo germline mutations in the HRPT2 gene in two apparently sporadic cases with challenging parathyroid tumor diagnoses.在两个具有挑战性的甲状旁腺肿瘤诊断的疑似散发性病例中，鉴定 HRPT2 基因中的从头种系突变。

Endocr Pathol. 2011 Mar;22(1):44-52. doi: 10.1007/s12022-011-9151-1.

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Re: Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations.

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