(Q24671771)

3

object named as

M L Brandi

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author name string

Y H Chou

1

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M R Pollak

2

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G Toss

4

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H Arnqvist

5

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A B Atkinson

6

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S E Papapoulos

7

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S Marx

8

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E M Brown

American Journal of Human Genetics

9

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language of work or name

English

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publication date

May 1995

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published in

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volume

56

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issue

5

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page(s)

1075-9

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

Sequence and expression of a metabotropic glutamate receptor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

Urinary calcium excretion in familial hypocalciuric hypercalcemia. Persistence of relative hypocalciuria after induction of hypoparathyroidism.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

A second-generation linkage map of the human genome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

Relationship of the genes for Chediak-Higashi syndrome (beige) and the T-cell receptor gamma chain in mouse and man.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

Familial benign hypercalcaemia. Study of a large family

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

Detection of point mutations associated with genetic diseases by an exon scanning technique

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

Family studies in patients with primary parathyroid hyperplasia

30 May 2018

1 reference

12 December 2020

An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds

1 reference

12 December 2020

Familial benign hypercalcemia (hypocalciuric hypercalcemia). Clinical and pathogenetic studies in 21 families

1 reference

12 December 2020

Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia

1 reference

12 December 2020

An evaluation of ribonuclease protection assays for the detection of beta-cardiac myosin heavy chain gene mutations

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