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

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

Journal of musculoskeletal & neuronal interactions - 1 Jun 2016

Papamerkouriou Y M, Doulgeraki A, Gyftodimou Y, Athanasopoulou H, Tsiridis E, Anastasopoulos J

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 Infant
Share to Mutation
Share to Osteogenesis Imperfecta

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 27282461
PMCID: PMC5114360

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges.PMID 27282461Read ↗

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

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 ↗

Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes.Semantic proximity Read ↗

Osteogenesis imperfecta: clinical, biochemical and molecular findings.Semantic proximity Read ↗

[Comprehensive considerations for the diagnosis, treatment, and management of osteogenesis imperfecta].Semantic proximity Read ↗

COL1A1 and COL1A2 Gene Variants Causing Osteogenesis Imperfecta in a Major Referral Center of India.Semantic proximity Read ↗

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.Semantic proximity Read ↗

A novel pathogenic variant at the C-terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability.Semantic proximity Read ↗

Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring systemSemantic proximity Read ↗

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