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22q11 deletion syndrome: current perspective
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scholarly article
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stated in
PubMed
review article
1 reference
stated in
Europe PubMed Central
title
22q11 deletion syndrome: current perspective
(English)
1 reference
stated in
PubMed
main subject
22q11 deletion syndrome
1 reference
based on heuristic
inferred from title
author
Kenan Delil
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
4445702
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26056486%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 June 2020
author name string
Bülent Hacıhamdioğlu
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
4445702
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26056486%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 June 2020
Duygu Hacıhamdioğlu
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
4445702
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26056486%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 June 2020
publication date
18 May 2015
1 reference
stated in
PubMed
published in
The Application of Clinical Genetics
2 references
stated in
Crossref
stated in
Europe PubMed Central
PMCID
4445702
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26056486%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 June 2020
volume
8
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMCID
4445702
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26056486%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 June 2020
page(s)
123-132
1 reference
stated in
Europe PubMed Central
PMCID
4445702
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26056486%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 June 2020
copyright license
Creative Commons Attribution-NonCommercial 3.0 Unported
start time
1 May 2015
1 reference
stated in
April 2022 Public Data File from Crossref
copyright status
copyrighted
0 references
cites work
Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications
1 reference
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PubMed Central
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Practical guidelines for managing patients with 22q11.2 deletion syndrome
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20 March 2017
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
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PubMed Central
reference URL
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20 March 2017
Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes
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PubMed Central
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20 March 2017
Mammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeat
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PubMed Central
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20 March 2017
TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome
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PubMed Central
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29 September 2017
Loss of Wnt5a disrupts second heart field cell deployment and may contribute to OFT malformations in DiGeorge syndrome
1 reference
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PubMed Central
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29 September 2017
Screening newborn blood spots for 22q11.2 deletion syndrome using multiplex droplet digital PCR.
1 reference
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PubMed Central
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retrieved
29 September 2017
Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study.
1 reference
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PubMed Central
reference URL
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29 September 2017
22q11.2 Deletion syndrome and obstructive sleep apnea
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4445702
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29 September 2017
Perioperative risk factors in patients with 22q11.2 deletion syndrome requiring surgery for velopharyngeal dysfunction
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4445702
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29 September 2017
Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome
1 reference
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PubMed Central
reference URL
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29 September 2017
Surgical considerations in 22Q11.2 deletion syndrome
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4445702
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29 September 2017
Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4445702
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29 September 2017
The diverse clinical features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome).
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4445702
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29 September 2017
Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4445702
retrieved
29 September 2017
Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4445702
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29 September 2017
Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4445702
retrieved
29 September 2017
Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4445702
retrieved
29 September 2017
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge 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=4445702
retrieved
29 September 2017
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
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=4445702
retrieved
29 September 2017
Hematological abnormalities and 22q11.2 deletion 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=4445702
retrieved
29 September 2017
Genomic disorders on chromosome 22.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4445702
retrieved
29 September 2017
Inverted low-copy repeats and genome instability--a genome-wide analysis
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4445702
retrieved
29 September 2017
A review of the evaluation and management of velopharyngeal insufficiency in children
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4445702
retrieved
29 September 2017
Is there a core neuropsychiatric phenotype in 22q11.2 deletion 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=4445702
retrieved
29 September 2017
Laryngeal abnormalities are frequent in the 22q11 deletion 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=4445702
retrieved
29 September 2017
Immunological aspects of 22q11.2 deletion 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=4445702
retrieved
29 September 2017
Head and neck manifestations of 22q11.2 deletion 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=4445702
retrieved
29 September 2017
Induction of tolerance to parental parathyroid grafts using allogeneic thymus tissue in patients with DiGeorge anomaly
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=4445702
retrieved
29 September 2017
Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: patterning, proliferation, and mitochondrial functions of 22q11 genes
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=4445702
retrieved
29 September 2017
Cardiovascular anomalies associated with chromosome 22q11.2 deletion 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=4445702
retrieved
29 September 2017
Spinal deformity in patients with DiGeorge 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=4445702
retrieved
29 September 2017
22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development
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=4445702
retrieved
29 September 2017
Mechanisms for human genomic rearrangements
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=4445702
retrieved
29 September 2017
Cardiac defects and results of cardiac surgery in 22q11.2 deletion 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=4445702
retrieved
29 September 2017
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
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=4445702
retrieved
29 September 2017
Finishing the finished human chromosome 22 sequence
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=4445702
retrieved
29 September 2017
Extracardiac features predicting 22q11.2 deletion syndrome in adult 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=4445702
retrieved
29 September 2017
Molecular and genetic aspects of DiGeorge/velocardiofacial 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=4445702
retrieved
29 September 2017
Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge 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=4445702
retrieved
29 September 2017
How homologous recombination generates a mutable 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=4445702
retrieved
29 September 2017
A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population
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=4445702
retrieved
29 September 2017
Endocrine aspects of the 22q11.2 deletion 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=4445702
retrieved
29 September 2017
The 22q11 deletion 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=4445702
retrieved
29 September 2017
Prevalence of 22q11 microdeletion
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=4445702
retrieved
29 September 2017
Clinical features and follow-up in patients with 22q11.2 deletion 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=4445702
retrieved
2 June 2018
Case report: two patients with partial DiGeorge syndrome presenting with attention disorder and learning difficulties
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=4445702
retrieved
2 June 2018
The annual incidence of DiGeorge/velocardiofacial 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=4445702
retrieved
2 June 2018
Tbx1 coordinates addition of posterior second heart field progenitor cells to the arterial and venous poles of the heart.
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=4445702
retrieved
27 November 2018
Presenting symptoms in adults with the 22q11 deletion 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=4445702
retrieved
27 November 2018
Speech and hearing in adults with 22q11.2 deletion 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=4445702
retrieved
27 November 2018
Hypoparathyroidism and autoimmunity in the 22q11.2 deletion 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=4445702
retrieved
27 November 2018
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)).
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=4445702
retrieved
27 November 2018
Hypoparathyroidism: is it time for replacement therapy?
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=4445702
retrieved
27 November 2018
Facial features in children with the 22q11 deletion 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=4445702
retrieved
27 November 2018
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion 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=4445702
retrieved
27 November 2018
Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features.
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=4445702
retrieved
27 November 2018
Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial 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=4445702
retrieved
27 November 2018
[Di George syndrome: not always a pediatric diagnosis]
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/26056486
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Teriparatide (rhPTH) treatment in children with syndromic hypoparathyroidism
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/26056486
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Fetal phenotype associated with the 22q11 deletion
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/26056486
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/26056486
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Live vaccine use and safety in DiGeorge syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/26056486
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Antibody deficiency in adults with 22q11.2 deletion syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/26056486
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Growth charts for 22q11 deletion syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/26056486
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Lack of Correlation between Impaired T Cell Production, Immunodeficiency, and Other Phenotypic Features in Chromosome 22q11.2 Deletion Syndromes (DiGeorge Syndrome/Velocardiofacial Syndrome)
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/26056486
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.2147/TACG.S82105
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMCID
4445702
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26056486%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 June 2020
PMCID
4445702
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMCID
4445702
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26056486%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 June 2020
PubMed ID
26056486
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMCID
4445702
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26056486%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 June 2020
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