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Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.
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Europe PubMed Central
PMC publication ID
209530
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
title
Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
209530
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
main subject
hypoparathyroidism
1 reference
based on heuristic
inferred from title
hypoparathyroidism, familial isolated
1 reference
based on heuristic
inferred from title
author
Michael A. Levine
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
209530
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
author name string
C Ding
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
209530
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
B Buckingham
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
209530
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
language of work or name
English
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publication date
1 October 2001
1 reference
stated in
Europe PubMed Central
PMC publication ID
209530
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
published in
Journal of Clinical Investigation
1 reference
stated in
Europe PubMed Central
PMC publication ID
209530
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
volume
108
1 reference
stated in
Europe PubMed Central
PMC publication ID
209530
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
issue
8
1 reference
stated in
Europe PubMed Central
PMC publication ID
209530
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
page(s)
1215-1220
1 reference
stated in
Europe PubMed Central
PMC publication ID
209530
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
cites work
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
GATA3 haplo-insufficiency causes human HDR syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
Genetic ablation of parathyroid glands reveals another source of parathyroid hormone
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
Placental failure in mice lacking the mammalian homolog of glial cells missing, GCMa
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
The size distribution of homozygous segments in the human genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
GCMB, a second human homolog of the fly glide/gcm gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
Isolation and expression analysis of a novel human homologue of the Drosophila glial cells missing (gcm) gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
Isolation and characterization of mammalian homologs of the Drosophila gene glial cells missing
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
The gcm-motif: a novel DNA-binding motif conserved in Drosophila and mammals
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
The calcium-sensing receptor: a window into the physiology and pathophysiology of mineral ion metabolism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
The extracellular calcium receptor
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
1 October 2017
Alteration of cell fate by ectopic expression of Drosophila glial cells missing in non-neural cells.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
2 July 2018
glial cells missing: a genetic switch that controls glial versus neuronal fate
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
2 July 2018
Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
2 July 2018
DiGeorge anomaly associated with 10p deletion
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
2 July 2018
Importance of a fifth parathyroid gland in the surgical treatment of hyperparathyroidism.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
2 July 2018
Molecular genetic analysis of the DiGeorge syndrome among Korean patients with congenital heart disease.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
23 September 2018
Gcm1, a mammalian homolog of Drosophila glial cells missing
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
23 September 2018
glial cells missing: a binary switch between neuronal and glial determination in Drosophila.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
23 September 2018
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530
retrieved
5 December 2018
Surgical significance of supernumerary parathyroid glands in renal hyperparathyroidism
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/11602629
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Autoimmune polyglandular syndromes
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/11602629
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/11602629
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Autoimmune polyendocrinopathy--candidosis--ectodermal dystrophy (APECED): autosomal recessive inheritance
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/11602629
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A thymoma as a cause of true ectopic hyperparathyroidism
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/11602629
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Nonadenomatous thymic unencapsulated parathyroid tissue as a cause of persistent primary hyperparathyroidism
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/11602629
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Transient congenital hypoparathyroidism: resolution and recurrence in chromosome 22q11 deletion
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/11602629
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1172/JCI200113180
1 reference
stated in
Europe PubMed Central
PMC publication ID
209530
retrieved
12 August 2017
10.1172/JCI13180
1 reference
stated in
Europe PubMed Central
PMC publication ID
209530
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
PMC publication ID
209530
1 reference
stated in
Europe PubMed Central
PMC publication ID
209530
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
PubMed publication ID
11602629
1 reference
stated in
Europe PubMed Central
PMC publication ID
209530
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
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