(Q35643358)

English

Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

scientific article published on April 1995

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

hyperparathyroidism

1 reference

based on heuristic

inferred from title

familial hypocalciuric hypercalcemia

1 reference

based on heuristic

inferred from title

author name string

Janicic N

1

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Pausova Z

2

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Cole DE

3

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Hendy GN

4

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

language of work or name

0 references

publication date

1 April 1995

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

56

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

880-886

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

Alu sequences in the coding regions of mRNA: a source of protein variability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

Repetitive sequences in eukaryotic DNA and their expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

Familial benign hypercalcemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

A fundamental division in the Alu family of repeated sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

A human rel proto-oncogene cDNA containing an Alu fragment as a potential coding exon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

Isolation and sequence analysis of a cDNA clone encoding the fifth complement component

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

Cloning of decay-accelerating factor suggests novel use of splicing to generate two proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

A transpositionally and transcriptionally competent Alu subfamily

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

A human-specific subfamily of Alu sequences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

Evolution of the master Alu gene(s)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

A de novo Alu insertion results in neurofibromatosis type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

Reconstruction and analysis of human alu genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

27 July 2018

Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

25 September 2018

Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

25 September 2018

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=1801194

25 September 2018

Nonviral retroposons: genes, pseudogenes, and transposable elements generated by the reverse flow of genetic information

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801194

25 September 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717399

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717399

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717399

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Secretory dysfunction in parathyroid cells from a neonate with severe primary hyperparathyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717399

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Report and abstracts of the Fourth International Workshop on Human Chromosome 3 Mapping

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717399

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13

1 reference

https://pubmed.ncbi.nlm.nih.gov/7717399

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

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