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Down Syndrome: Current Status, Challenges and Future Perspectives
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scholarly article
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PubMed
review article
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Europe PubMed Central
title
Down Syndrome: Current Status, Challenges and Future Perspectives
(English)
1 reference
stated in
PubMed
main subject
Down syndrome
1 reference
based on heuristic
inferred from title
author name string
Kazemi M
series ordinal
1
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stated in
PubMed
Salehi M
series ordinal
2
1 reference
stated in
PubMed
Kheirollahi M
series ordinal
3
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stated in
PubMed
language of work or name
English
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stated in
PubMed
publication date
2016
0 references
published in
International journal of molecular and cellular medicine
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stated in
PubMed
volume
5
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stated in
PubMed
issue
3
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stated in
PubMed
page(s)
125-133
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PubMed
cites work
Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis
1 reference
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PubMed Central
reference URL
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retrieved
20 March 2017
A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome
1 reference
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PubMed Central
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retrieved
20 March 2017
Helse og sykdom hos voksne med Downs syndrom
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=5125364
retrieved
20 March 2017
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci
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=5125364
retrieved
20 March 2017
An angel with Down syndrome in a sixteenth century Flemish Nativity painting
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=5125364
retrieved
20 March 2017
The DNA sequence of human chromosome 21
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=5125364
retrieved
20 March 2017
Olig1 and Olig2 triplication causes developmental brain defects in Down 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=5125364
retrieved
20 March 2017
Chromosome 21 and down syndrome: from genomics to pathophysiology
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=5125364
retrieved
20 March 2017
Single Nucleotide Polymorphism-Based Analysis of Cell-Free Fetal DNA in 3000 Cases from Germany and Austria
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=5125364
retrieved
29 September 2017
Cell free fetal DNA testing in maternal blood of Romanian pregnant women
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=5125364
retrieved
29 September 2017
Nuchal translucency distributions for different chromosomal anomalies in a large unselected population cohort.
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=5125364
retrieved
29 September 2017
Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma
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=5125364
retrieved
29 September 2017
Risk of Major Cardiovascular Events in People with Down 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=5125364
retrieved
29 September 2017
Cytogenetic profile in 1,921 cases of trisomy 21 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=5125364
retrieved
29 September 2017
"Down syndrome: an insight of the 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=5125364
retrieved
29 September 2017
Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis
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=5125364
retrieved
29 September 2017
Use of cell-free fetal DNA in maternal plasma for noninvasive prenatal screening
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=5125364
retrieved
29 September 2017
Imaging findings in Down 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=5125364
retrieved
29 September 2017
Sonographic markers for early diagnosis of fetal malformations.
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=5125364
retrieved
29 September 2017
Current estimate of Down Syndrome population prevalence in the United States
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=5125364
retrieved
29 September 2017
Translating dosage compensation to trisomy 21
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=5125364
retrieved
29 September 2017
ACMG statement on noninvasive prenatal screening for fetal aneuploidy.
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=5125364
retrieved
29 September 2017
Reliability of fetal nasal bone length measurement at 11-14 weeks of gestation
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=5125364
retrieved
29 September 2017
Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening
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=5125364
retrieved
29 September 2017
Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18.
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=5125364
retrieved
29 September 2017
Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
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=5125364
retrieved
29 September 2017
Mechanistic insights into chromosome-wide silencing in X inactivation.
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=5125364
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29 September 2017
Molecular basis of pharmacotherapies for cognition in Down 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=5125364
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29 September 2017
Upregulation of three Drosophila homologs of human chromosome 21 genes alters synaptic function: implications for Down 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=5125364
retrieved
29 September 2017
The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome
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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=5125364
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29 September 2017
Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects
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=5125364
retrieved
29 September 2017
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
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=5125364
retrieved
29 September 2017
New insights into human nondisjunction of chromosome 21 in oocytes
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=5125364
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29 September 2017
Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-Ecuador.
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=5125364
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29 September 2017
First-Trimester Sonographic Screening for Down Syndrome*1
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=5125364
retrieved
29 September 2017
The epidemiology of mental retardation: challenges and opportunities in the new millennium
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=5125364
retrieved
29 September 2017
Down syndrome: genetic recombination and the origin of the extra chromosome 21.
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=5125364
retrieved
29 September 2017
Human chromosome 21: genome mapping and exploration, circa 1993.
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=5125364
retrieved
29 September 2017
Fetal pyelectasis and Down syndrome: is genetic amniocentesis warranted?
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=5125364
retrieved
29 September 2017
The Link between Alzheimer's Disease and Down Syndrome. A Historical Perspective
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=5125364
retrieved
2 June 2018
Molecule of the month: miRNA and Down's 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=5125364
retrieved
2 June 2018
Can sonographers reliably identify anatomic features associated with Down syndrome in fetuses?
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=5125364
retrieved
2 June 2018
Current controversies in prenatal diagnosis 3: is there still a value in a nuchal translucency screening ultrasound in conjunction with maternal plasma non-invasive cell-free DNA testing?
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=5125364
retrieved
27 November 2018
The type of feto-placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure
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=5125364
retrieved
27 November 2018
Maternal cfDNA screening for Down syndrome--a cost sensitivity analysis
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=5125364
retrieved
27 November 2018
Assessment of the value of reporting partial screening results in prenatal screening for Down syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27942498
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational study
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27942498
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Fetal nose bone length: a marker for Down syndrome in the second trimester
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27942498
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Integrated ultrasound and biochemical screening for trisomy 21 using fetal nuchal translucency, absent fetal nasal bone, free beta-hCG and PAPP-A at 11 to 14 weeks
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27942498
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The somatic chromosomes in mongolism
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27942498
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The incidence patterns of Down syndrome in Qatar
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27942498
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Incidence of Down syndrome in Dubai, UAE
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27942498
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Fetal pyelectasis: a possible association with Down syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27942498
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27942498
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
First trimester screening for Down syndrome using nuchal translucency, maternal serum pregnancy-associated plasma protein A, free-β human chorionic gonadotrophin, placental growth factor, and α-fetoprotein
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27942498
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Cell-free DNA Analysis for Noninvasive Examination of Trisomy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27942498
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Ancient Down syndrome: An osteological case from Saint-Jean-des-Vignes, northeastern France, from the 5-6th century AD
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27942498
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Soft tissue nuchal fold in the second-trimester fetus: standards for normal measurements compared with those in Down syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27942498
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A sonographic sign for the detection in the second trimester of the fetus with Down's syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27942498
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
PMC publication ID
5125364
1 reference
stated in
PubMed
PubMed publication ID
27942498
1 reference
stated in
PubMed
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