Discover Community Create You

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

[Rapid genetic prenatal diagnosis for achondroplasia].

Zhonghua fu chan ke za zhi - 1 Nov 2008

Zhu Hai-Yan, Yang Ying, Li Jie, Ru Tong, Hu Ya-Li

Abstract excerpt

OBJECTIVE: To explore the genetic prenatal diagnosis method for achondroplasia (ACH). METHODS: During May to November 2007, three ACH pedigrees were diagnosed at the Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital of Medical College, Nanjing University. In family 1, there was a 6-month-old male ACH infant. In family 2, the expectant mother, with 18 weeks of...

Read the complete abstract on PubMed

Topics

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

Share to Achondroplasia
Share to Chromatography, High Pressure Liquid
Share to Fetal Diseases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Restriction Mapping

Source

Identifiers

PMID: 19087561

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Rapid genetic prenatal diagnosis for achondroplasia].PMID 19087561Read ↗

Non-Invasive Prenatal Detecting of Achondroplasia In Earlier Stage of Pregnancy By Droplet-Digital PCRSemantic proximity Read ↗

[Diagnosing achondroplasia by single cell nested-PCR].Semantic proximity Read ↗

[Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis].Semantic proximity Read ↗

[Mutations of the fibroblast growth factor receptor 3 gene in achondroplasia].Semantic proximity Read ↗

[Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family].Semantic proximity Read ↗

[DNA diagnosis for short limb dwarfism, possibility of prenatal diagnosis for achondroplasia].Semantic proximity Read ↗

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

[Prenatal molecular diagnosis of four fetuses at high risk for X-linked adrenoleukodystrophy].Semantic proximity Read ↗

[Achondroplasia: molecular study of 28 patients].Semantic proximity Read ↗

[Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation].Semantic proximity Read ↗

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

[The power of linkage analysis on PAH gene in prenatal gene diagnosis is improved with three additional short tandem repeat markers].Semantic proximity Read ↗

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