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

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

Prenatal diagnosis - 1 Apr 2024

Chafitz Olivia B, Feigenblum Nicole S, Haddad Andrew S, Abdelhak Yaakov E, Oladipo Antonia F

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 Mutation
Share to Osteogenesis Imperfecta
Share to Pregnancy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 38459741
DOI: 10.1002/pd.6549

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Caution with noninvasive prenatal screening for single gene disorders: A case report of a COL1A1 variant in osteogenesis imperfecta.PMID 38459741Read ↗

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

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 ↗

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

Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.Semantic proximity Read ↗

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

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

[Prenatal gene diagnosis of 200 fetuses at high risk of osteogenesis imperfect].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 ↗

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