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

Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene.

Prenatal diagnosis - 1 Apr 2006

Aerts Marijke, Van Holsbeke Caroline, de Ravel Thomy, Devlieger Roland

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type I
Share to Collagen Type I, alpha 1 Chain
Share to Gestational Age
Share to Karyotyping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Osteogenesis Imperfecta

Share to Pregnancy

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 16566045
DOI: 10.1002/pd.1428

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene.PMID 16566045Read ↗

Caution with noninvasive prenatal screening for single gene disorders: A case report of a COL1A1 variant in osteogenesis imperfecta.Semantic proximity Read ↗

A novel COL1A1 mutation causing a variant of osteogenesis imperfecta.Semantic proximity Read ↗

Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges.Semantic proximity Read ↗

Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2Semantic proximity Read ↗

Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2.Semantic proximity Read ↗

Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta.Semantic proximity Read ↗

Favourable outcome in a pregnancy with concomitant maternal and fetal osteogenesis imperfecta associated with a novel COL1A2 mutation.Semantic proximity Read ↗

A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II.Semantic proximity Read ↗

Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing.Semantic proximity Read ↗

[Update on prenatal diagnosis of osteogenesis imperfecta type II : an index case report diagnosed by ultrasonography in the first trimester].Semantic proximity Read ↗

Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.Semantic proximity Read ↗

Novel COL1A Gene Mutation Leading to Infantile Osteogenesis Imperfecta Type IV: A Case ReportSemantic proximity Read ↗

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