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

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

Prenatal diagnosis - 1 Jan 2007

Li Ying, Page-Christiaens Godelieve C M L, Gille Johan J P, Holzgreve Wolfgang, Hahn Sinuhe

Abstract excerpt

Achondroplasia is the most common form of short-limbed dwarfism in humans and is caused by mutations in the FGFR3 gene. Currently, prenatal diagnosis of this disorder relies on invasive procedures. Recent studies have shown that fetal single gene point mutations could be detected in cell-free DNA...

Read the complete abstract on PubMed

Topics

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

Share to Achondroplasia
Share to Cell-Free System
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymerase Chain Reaction

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

Source

Identifiers

PMID: 17154237
DOI: 10.1002/pd.1608

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17154237-2026-09-02.1. 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

Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay.PMID 17154237Read ↗

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

Non-invasive prenatal diagnosis using cell-free fetal DNA in maternal plasma from PGD pregnancies.Semantic proximity Read ↗

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

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

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

Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testingSemantic 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 ↗

Analysis of the Size Distributions of Fetal and Maternal Cell-Free DNA by Paired-End SequencingSemantic 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 ↗

MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis.Semantic proximity Read ↗

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

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