Down Syndrome: Current Status, Challenges and Future Perspectives (Q28079334)

Salehi M

series ordinal

2

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Kheirollahi M

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3

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International journal of molecular and cellular medicine

language of work or name

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2016

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published in

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volume

5

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issue

3

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page(s)

125-133

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Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis

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1 reference

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A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome

20 March 2017

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Helse og sykdom hos voksne med Downs syndrom

20 March 2017

1 reference

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Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci

20 March 2017

1 reference

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An angel with Down syndrome in a sixteenth century Flemish Nativity painting

20 March 2017

1 reference

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The DNA sequence of human chromosome 21

20 March 2017

1 reference

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Olig1 and Olig2 triplication causes developmental brain defects in Down syndrome

20 March 2017

1 reference

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Chromosome 21 and down syndrome: from genomics to pathophysiology

20 March 2017

1 reference

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Single Nucleotide Polymorphism-Based Analysis of Cell-Free Fetal DNA in 3000 Cases from Germany and Austria

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Cell free fetal DNA testing in maternal blood of Romanian pregnant women

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Nuchal translucency distributions for different chromosomal anomalies in a large unselected population cohort.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Risk of Major Cardiovascular Events in People with Down Syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Cytogenetic profile in 1,921 cases of trisomy 21 syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

"Down syndrome: an insight of the disease"

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis

29 September 2017

1 reference

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Use of cell-free fetal DNA in maternal plasma for noninvasive prenatal screening

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Imaging findings in Down syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Sonographic markers for early diagnosis of fetal malformations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Current estimate of Down Syndrome population prevalence in the United States

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Translating dosage compensation to trisomy 21

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

ACMG statement on noninvasive prenatal screening for fetal aneuploidy.

29 September 2017

1 reference

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Reliability of fetal nasal bone length measurement at 11-14 weeks of gestation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Mechanistic insights into chromosome-wide silencing in X inactivation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Molecular basis of pharmacotherapies for cognition in Down syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Upregulation of three Drosophila homologs of human chromosome 21 genes alters synaptic function: implications for Down syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

New insights into human nondisjunction of chromosome 21 in oocytes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-Ecuador.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

First-Trimester Sonographic Screening for Down Syndrome*1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

The epidemiology of mental retardation: challenges and opportunities in the new millennium

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Down syndrome: genetic recombination and the origin of the extra chromosome 21.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Human chromosome 21: genome mapping and exploration, circa 1993.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Fetal pyelectasis and Down syndrome: is genetic amniocentesis warranted?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

The Link between Alzheimer's Disease and Down Syndrome. A Historical Perspective

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Molecule of the month: miRNA and Down's syndrome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Can sonographers reliably identify anatomic features associated with Down syndrome in fetuses?

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

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?

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

The type of feto-placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Maternal cfDNA screening for Down syndrome--a cost sensitivity analysis

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125364

Assessment of the value of reporting partial screening results in prenatal screening for Down syndrome

27 November 2018

1 reference

12 December 2020

Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational study

1 reference

12 December 2020

Fetal nose bone length: a marker for Down syndrome in the second trimester

1 reference

12 December 2020

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

12 December 2020

The somatic chromosomes in mongolism

1 reference

12 December 2020

The incidence patterns of Down syndrome in Qatar

1 reference

12 December 2020

Incidence of Down syndrome in Dubai, UAE

1 reference

12 December 2020

Fetal pyelectasis: a possible association with Down syndrome

1 reference

12 December 2020

Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings

1 reference

12 December 2020

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

12 December 2020

Cell-free DNA Analysis for Noninvasive Examination of Trisomy

1 reference

12 December 2020

Ancient Down syndrome: An osteological case from Saint-Jean-des-Vignes, northeastern France, from the 5-6th century AD

1 reference

12 December 2020

Soft tissue nuchal fold in the second-trimester fetus: standards for normal measurements compared with those in Down syndrome

1 reference

12 December 2020

A sonographic sign for the detection in the second trimester of the fetus with Down's syndrome

1 reference

12 December 2020

Identifiers

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PubMed publication ID

27942498

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