Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma--case report.

Prenatal diagnosis - 1 Nov 2004

Li Y, Holzgreve W, Page-Christiaens G C M L, Gille J J P, Hahn S

Abstract excerpt

INTRODUCTION: The efficacious analysis of fetal loci involving point mutations from circulatory fetal DNA in maternal plasma is hindered by the preponderance of maternal DNA. It has recently been shown that the size difference between fetal and maternal DNA species can be used for the selective e...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Achondroplasia
Share to Amniocentesis
Share to Fetus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pregnancy Trimester, Third

Share to Prenatal Diagnosis

Share to Protein-Tyrosine Kinases

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Receptors, Fibroblast Growth Factor

Source

Identifiers

PMID: 15565648
DOI: 10.1002/pd.1030

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15565648-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma--case report.PMID 15565648Read ↗

Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay.Semantic proximity Read ↗

Size Separation of Circulatory DNA in Maternal Plasma Permits Ready Detection of Fetal DNA PolymorphismsSemantic proximity Read ↗

Genotyping fetal paternally inherited SNPs by MALDI-TOF MS using cell-free fetal DNA in maternal plasma: influence of size fractionation.Semantic proximity Read ↗

New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma.Semantic proximity Read ↗

Detection of Paternally Inherited Fetal Point Mutations for β-Thalassemia Using Size-Fractionated Cell-Free DNA in Maternal PlasmaSemantic proximity Read ↗

Optimal non‐invasive diagnosis of fetal achondroplasia combining ultrasonography with circulating cell‐free fetal DNA analysisSemantic proximity Read ↗

Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma.Semantic proximity Read ↗

Size fractionation of cell-free DNA in maternal plasma and its application in noninvasive detection of fetal single gene point mutations.Semantic proximity Read ↗

Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia.Semantic proximity Read ↗

Size fractionation of cell-free DNA in maternal plasma improves the detection of a paternally inherited beta-thalassemia point mutation by MALDI-TOF mass spectrometry.Semantic proximity Read ↗

Detection of SNPs in the plasma of pregnant women and in the urine of kidney transplant recipients by mass spectrometry.Semantic proximity Read ↗

Prenatal diagnosis of achondroplasia using the nested polymerase chain reaction with modified primer sets.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.