(Q35506547)

8 August 2017

Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18. (English)

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8 August 2017

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Diana W Bianchi

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8 August 2017

Keiko Koide

1

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8 August 2017

Donna K Slonim

2

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8 August 2017

Kirby L Johnson

3

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8 August 2017

Umadevi Tantravahi

4

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8 August 2017

Janet M Cowan

5

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8 August 2017

9 December 2010

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8 August 2017

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8 August 2017

129

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8 August 2017

3

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8 August 2017

295-305

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https://scigraph.springernature.com/pub.10.1007/s00439-010-0923-3

8 August 2017

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cites work

Cell-free fetal nucleic acids in amniotic fluid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

Lack of nAChR activity depresses cochlear maturation and up-regulates GABA system components: temporal profiling of gene expression in alpha9 null mice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

Functional genomic analysis of amniotic fluid cell-free mRNA suggests that oxidative stress is significant in Down syndrome fetuses

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

Adrenal gland development and 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=3206603

Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

12 July 2018

A new trisomic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

PANTHER: a library of protein families and subfamilies indexed by function

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

DAVID: Database for Annotation, Visualization, and Integrated Discovery

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

Development and function of the human fetal adrenal cortex.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

InterPro--an integrated documentation resource for protein families, domains and functional sites

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

Gene ontology: tool for the unification of biology

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

The protein information resource (PIR)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

KEGG: kyoto encyclopedia of genes and genomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

Natural history of trisomy 18.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

Rho-associated kinase, a novel serine/threonine kinase, as a putative target for small GTP binding protein Rho

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

The small GTP-binding protein Rho binds to and activates a 160 kDa Ser/Thr protein kinase homologous to myotonic dystrophy kinase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

A novel serine/threonine kinase binding the Ras-related RhoA GTPase which translocates the kinase to peripheral membranes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

Trisomy 18q. A case report and review of karyotype-phenotype correlations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

Clinical management considerations in long-term survivors with trisomy 18.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk.

12 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0923-3

Natural history of trisomy 18 and trisomy 13: II. Psychomotor development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0923-3

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0923-3

Decreased cholesterol synthesis as a possible aetiological factor in malformations of trisomy 18.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0923-3

Population-based analyses of mortality in trisomy 13 and trisomy 18.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0923-3

ROCK1 expression is regulated by TGFbeta3 and ALK2 during valvuloseptal endocardial cushion formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0923-3

Rho-associated kinases play a role in endocardial cell differentiation and migration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0923-3

Interaction of reactive oxygen species with ion transport mechanisms.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3206603

The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18

26 September 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0923-3

Trisomy 18 mosaicism in a woman with normal intelligence

21 January 2018

1 reference

12 December 2020

Trisomy 18qter and trisomy mapping of chromosome 18

1 reference

12 December 2020

Trisomy 18 mosaicism in an adult with normal intelligence

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12 December 2020

Abnormal immunological development in fetuses with trisomy 18

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12 December 2020

Whither Down syndrome critical regions?

1 reference

12 December 2020

A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome

1 reference

12 December 2020

Rho kinases regulate endothelial invasion and migration during valvuloseptal endocardial cushion tissue formation

1 reference

12 December 2020

Specific transcriptional changes in human fetuses with autosomal trisomies

1 reference

12 December 2020

10.1007/S00439-010-0923-3

Identifiers

DOI

1 reference

8 August 2017

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8 August 2017

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