(Q36237134)

12 August 2017

An adolescent case of familial hyperparathyroidism with a germline frameshift mutation of the CDC73 gene (English)

1 reference

12 August 2017

1 reference

1 reference

Takako Takeuchi

1

1 reference

12 August 2017

Yuko Yoto

2

1 reference

12 August 2017

Takeshi Tsugawa

3

1 reference

12 August 2017

Hotaka Kamasaki

4

1 reference

12 August 2017

Atsushi Kondo

5

1 reference

12 August 2017

Jiro Ogino

6

1 reference

12 August 2017

Tadashi Hasegawa

7

1 reference

12 August 2017

Naoya Yama

8

1 reference

12 August 2017

Sawa Anan

9

1 reference

12 August 2017

Shinya Uchino

10

1 reference

12 August 2017

Aki Ishikawa

11

1 reference

12 August 2017

Akihiro Sakurai

12

1 reference

12 August 2017

Hiroyuki Tsutsumi

13

1 reference

12 August 2017

24 October 2015

1 reference

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

12 August 2017

1 reference

12 August 2017

24

1 reference

12 August 2017

185-189

1 reference

12 August 2017

4

1 reference

The surgical management of asymptomatic primary hyperparathyroidism: proceedings of the Fourth International Workshop.

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4628953

Clinical and molecular genetics of parathyroid neoplasms

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4628953

The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4628953

Primary hyperparathyroidism in pediatric patients

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4628953

Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4628953

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4628953

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4628953

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4628953

Expression of parafibromin in major renal cell tumors

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4628953

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.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4628953

Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4628953

A case of hyperparathyroidism-jaw tumour syndrome found in the treatment of an ossifying fibroma in the maxillary bone.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4628953

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4628953

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

22 September 2018

1 reference

12 December 2020

Hyperparathyroidism-jaw tumor syndrome: a case report

1 reference

12 December 2020

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

1 reference

12 December 2020

Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation

1 reference

12 December 2020

Hyperparathyroidism-jaw tumor syndrome

1 reference

12 December 2020

Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors

1 reference

12 December 2020

Identifiers

DOI

10.1297/CPE.24.185

1 reference

12 August 2017

1 reference

12 August 2017

1 reference