(Q24675796)

1

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M Epstein

2

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A Sweet

3

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D Singh

4

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J Burgess

5

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S Stranks

6

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P Hill

7

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D Perry-Keene

8

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D Learoyd

9

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B Robinson

10

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P Birdsey

11

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E Mackenzie

12

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J B Prins

14

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J Cardinal

Journal of Medical Genetics

15

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language of work or name

English

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publication date

March 2004

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published in

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volume

41

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issue

3

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page(s)

155-60

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cites work

Non-coding RNAs: the architects of eukaryotic complexity

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Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

7 April 2017

1 reference

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Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia

7 April 2017

1 reference

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A simple salting out procedure for extracting DNA from human nucleated cells

7 April 2017

1 reference

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

7 April 2017

1 reference

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Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains

7 April 2017

1 reference

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Parathyroid adenomas and cardiovascular risk

7 April 2017

1 reference

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

28 September 2017

1 reference

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Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds

28 September 2017

1 reference

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Guidelines for diagnosis and therapy of MEN type 1 and type 2.

28 September 2017

1 reference

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Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia

28 September 2017

1 reference

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Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor

28 September 2017

1 reference

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

28 September 2017

1 reference

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The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis

28 September 2017

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Clinical manifestations of genetic defects affecting gonadotrophins and their receptors

28 September 2017

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Urine calcium and serum ionized calcium, total calcium and parathyroid hormone concentrations in the diagnosis of primary hyperparathyroidism and familial benign hypercalcaemia

28 September 2017

1 reference

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Urinary saturation and risk factors for calcium oxalate stone disease based on spot and 24-hour urine specimens.

30 May 2018

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Nomenclature for the description of human sequence variations

28 November 2018

1 reference

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Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region.

28 November 2018

1 reference

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Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree.

28 November 2018

1 reference

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Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients

28 November 2018

1 reference

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A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735699

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

28 November 2018

1 reference

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Novel Chromosomal Abnormalities Identified by Comparative Genomic Hybridization in Parathyroid Adenomas1

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735699

Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia type 2A: results of long-term follow-up.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735699

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735699

Familial benign hypercalcaemia: hypercalciuria and hypocalciuria in affected members of a small kindred

28 November 2018

1 reference

12 December 2020

Use of random urine samples to estimate total urinary calcium and phosphate excretion

1 reference

12 December 2020

Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer

1 reference

12 December 2020

Genomic localization of novel candidate tumor suppressor gene loci in human parathyroid adenomas

1 reference

12 December 2020

Familial isolated primary hyperparathyroidism with parathyroid carcinomas: clinical and molecular features

1 reference

12 December 2020

Nephrolithiasis and bone involvement in primary hyperparathyroidism

1 reference

12 December 2020

[Familial isolated hyperparathyroidism: a report of two cases]

1 reference

12 December 2020

The prevalence of familial hypocalciuric hypercalcemia

1 reference

12 December 2020

Allelic loss in clinically and screening-detected primary hyperparathyroidism

1 reference

12 December 2020

Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism

1 reference

12 December 2020

Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome

1 reference

12 December 2020

Summary statement from a workshop on asymptomatic primary hyperparathyroidism: a perspective for the 21st century

1 reference

12 December 2020

Marked hypercalcemia in a patient with hypocalciuric hypercalcemia without a mutation in the calcium-sensing receptor gene

1 reference

12 December 2020

The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds

1 reference

12 December 2020

Parathyroid glands in familial benign hypercalcemia (familial hypocalciuric hypercalcemia)

1 reference

12 December 2020