(Q35730155)

9 August 2017

3 references

22 April 2019

25 April 2019

6 July 2020

"Down syndrome: an insight of the disease" (English)

1 reference

9 August 2017

3 references

22 April 2019

25 April 2019

6 July 2020

Ambreen Asim

1

1 reference

9 August 2017

Ashok Kumar

2

1 reference

9 August 2017

Srinivasan Muthuswamy

3

1 reference

9 August 2017

Shalu Jain

4

1 reference

9 August 2017

Sarita Agarwal

5

1 reference

9 August 2017

language of work or name

1 reference

11 June 2015

4 references

Journal of Biomedical Science

9 August 2017

22 April 2019

25 April 2019

6 July 2020

4 references

9 August 2017

22 April 2019

25 April 2019

6 July 2020

22

1 reference

9 August 2017

page(s)

41

1 reference

Creative Commons Attribution

9 August 2017

copyright license

3 references

22 April 2019

25 April 2019

6 July 2020

0 references

on focus list of Wikimedia project

ScienceSource

0 references

cites work

Sonographic markers for early diagnosis of fetal malformations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Evidence that PICALM affects age at onset of Alzheimer's dementia in Down syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Meta-analysis of second-trimester markers for trisomy 21.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

An Intron 7 Polymorphism in APP Affects the Age of Onset of Dementia in Down Syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Update on Procedure-Related Risks for Prenatal Diagnosis Techniques

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Molecular basis of pharmacotherapies for cognition in Down syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Next-generation sequencing: from basic research to diagnostics

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

The impact of next-generation sequencing technology on genetics

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Hirschsprung disease, associated syndromes and genetics: a review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Genetic mechanisms involved in the phenotype of Down syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Atrioventricular septal defect: from fetus to adult

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

RCAN1 (DSCR1 or Adapt78) stimulates expression of GSK-3beta.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Chromosome 21 and down syndrome: from genomics to pathophysiology

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

First-Trimester Sonographic Screening for Down Syndrome*1

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Assembly of microarrays for genome-wide measurement of DNA copy number

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Detailed mapping of a congenital heart disease gene in chromosome 3p25

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Risks of leukaemia and solid tumours in individuals with Down's syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

The "gene dosage effect" hypothesis versus the "amplified developmental instability" hypothesis in Down syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Measurement of locus copy number by hybridisation with amplifiable probes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

International variation in reported livebirth prevalence rates of Down syndrome, adjusted for maternal age.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Population-based study of the prevalence and presentation of dementia in adults with Down's syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

A lineage-selective knockout establishes the critical role of transcription factor GATA-1 in megakaryocyte growth and platelet development

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

A 1.6-Mb P1-based physical map of the Down syndrome region on chromosome 21.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Molecular mapping of twenty-four features of Down syndrome on chromosome 21.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Down syndrome—a disruption of homeostasis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

A prospective study of Alzheimer disease in Down syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Detection of aneuploidy involving chromosomes 13, 18, or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Multiplex quantitative fluorescent polymerase chain reaction for detection of aneuploidies.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

The prevalence of Down syndrome in County Galway.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degeneration.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Chromosome 21 BACE2 haplotype associates with Alzheimer's disease: a two-stage study

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA).

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Differences in cardiovascular disease risk between nondiabetic adults with mental retardation with and without Down syndrome

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Prevalence of dementia and impact on intellectual disability services.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Incidence and course of dementia in people with Down's syndrome: findings from a population-based study.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Congenital anomalies of the small intestine, colon, and rectum.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Fetal loss in Down syndrome pregnancies

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Anomalies in Down syndrome individuals in a large population-based registry

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Low blood pressure in Down's syndrome, A link with Alzheimer's disease?

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Mapping of the Down syndrome phenotype on chromosome 21 at the molecular level.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464633

Presence of fetal DNA in maternal plasma and serum

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS12929-015-0138-Y

The changing survival profile of people with Down's syndrome: implications for genetic counselling

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS12929-015-0138-Y

Systematic Search for Placental DNA-Methylation Markers on Chromosome 21: Toward a Maternal Plasma-Based Epigenetic Test for Fetal Trisomy 21

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS12929-015-0138-Y

Incidence of Down syndrome in Dubai, UAE

21 January 2018

1 reference

12 December 2020

The prevalence of dementia in Down syndrome

1 reference

12 December 2020

Simultaneous occurrence of mongolism and leukemia; report of a nationwide survey

1 reference

12 December 2020

Diagnosis of Down syndrome and detection of origin of nondisjunction by short tandem repeat analysis

1 reference

12 December 2020

The incidence patterns of Down syndrome in Qatar

1 reference

12 December 2020

A tiling resolution DNA microarray with complete coverage of the human genome

1 reference

12 December 2020

Practical and theoretical implications of fetal-maternal lymphocyte transfer

1 reference

12 December 2020

New strategy for prenatal diagnosis of X-linked disorders

1 reference

12 December 2020

10.1186/S12929-015-0138-Y

Identifiers

DOI

1 reference

Dimensions Publication ID

9 August 2017

0 references

1 reference

9 August 2017

1 reference