HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours (Q24676397)

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C J Haven

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K Kahnoski

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S K Khoo

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D Petillo

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J Chen

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G J Fleuren

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B G Robinson

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L W Delbridge

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J Philips

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A E Nelson

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U Krause

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K Hammje

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H Dralle

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C Hoang-Vu

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O Gimm

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D J Marsh

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H Morreau

Journal of Medical Genetics

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language of work or name

English

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publication date

September 2003

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published in

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volume

40

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page(s)

657-63

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issue

9

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cites work

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

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Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus

7 April 2017

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Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1

7 April 2017

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Positional cloning of the gene for multiple endocrine neoplasia-type 1

7 April 2017

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A high-resolution recombination map of the human genome

7 April 2017

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HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome

7 April 2017

1 reference

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Hyperparathyroid and hypoparathyroid disorders

28 September 2017

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Patterns of chromosomal imbalances in parathyroid carcinomas

28 September 2017

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Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders

28 September 2017

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Cyclin D1/PRAD1 expression in parathyroid adenomas: an immunohistochemical study

28 September 2017

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Molecular cloning and chromosomal mapping of DNA rearranged with the parathyroid hormone gene in a parathyroid adenoma

28 November 2018

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Somatic mutation of the MEN1 gene in parathyroid tumours.

28 September 2017

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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.

30 May 2018

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Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism

30 May 2018

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

28 November 2018

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12 December 2020

The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred

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12 December 2020

Immunohistochemical Analysis of the Cell Cycle-Associated Antigens Ki-67 and Retinoblastoma Protein in Parathyroid Carcinomas and Adenomas

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12 December 2020

Loss of heterozygosity in sporadic parathyroid tumours: involvement of chromosome 1 and the MEN1 gene locus in 11q13

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12 December 2020

Alterations of the MEN1 gene in sporadic parathyroid tumors

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12 December 2020

Loss of the retinoblastoma tumor-suppressor gene in parathyroid carcinoma

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12 December 2020

Differential loss of heterozygosity in familial, sporadic, and uremic hyperparathyroidism

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12 December 2020

Expression of cyclin D1 in parathyroid carcinomas, adenomas, and hyperplasias: a paraffin immunohistochemical study

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12 December 2020

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

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12 December 2020

Inactivation of retinoblastoma gene in malignant parathyroid growths: a candidate genetic trigger?

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12 December 2020

Hypothyroidism and hyperparathyroidism associated with lithium

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12 December 2020

Allelic loss of the retinoblastoma tumor suppressor gene: a marker for aggressive parathyroid tumors?

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12 December 2020

Comparative genomic hybridization analysis of human parathyroid tumors

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12 December 2020

Evaluation of retinoblastoma and Ki-67 immunostaining as diagnostic markers of benign and malignant parathyroid disease

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12 December 2020

Genetic and clinical characterization of sporadic cystic parathyroid tumours

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12 December 2020

Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism

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12 December 2020

Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism

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12 December 2020

Familial cystic parathyroid adenomatosis

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12 December 2020

Genetic analysis of lithium-associated parathyroid tumors

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12 December 2020

Identifiers

DOI

10.1136/JMG.40.9.657

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1309756

1309756

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1 reference

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