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

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

European journal of human genetics : EJHG - 1 Jan 2012

van Dijk Fleur S, Byers Peter H, Dalgleish Raymond, Malfait Fransiska, Maugeri Alessandra, Rohrbach Marianne, Symoens Sofie, Sistermans Erik A, Pals Gerard

Abstract excerpt

Osteogenesis imperfecta (OI) comprises a group of inherited disorders characterized by bone fragility and increased susceptibility to fractures. Historically, the laboratory confirmation of the diagnosis OI rested on cultured dermal fibroblasts to identify decreased or abnormal production of abnormal type I (pro)collagen molecules, measured by gel electrophoresis. With the discovery of COL1A1 and COL1A2 gene...

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Counseling

Share to Genetic Diseases, Inborn

Share to Inheritance Patterns

Share to Osteogenesis Imperfecta

Share to Preimplantation Diagnosis

Share to Prenatal Diagnosis

Source

Open in PubMed Open full text

Identifiers

PMID: 21829228
DOI: 10.1038/ejhg.2011.141
PMCID: PMC3234509

Genes

CRTAP
FKBP10
PLOD2
PPIB
SERPINF1
SERPINH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.PMID 21829228Read ↗

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

The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.Semantic proximity Read ↗

Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.Semantic proximity Read ↗

Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta.Semantic proximity Read ↗

What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse casesSemantic proximity Read ↗

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaSemantic proximity Read ↗

Update on the Genetics of Osteogenesis Imperfecta.Semantic proximity Read ↗

DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.Semantic proximity Read ↗

Osteogenesis imperfecta.Semantic proximity Read ↗

Osteogenesis imperfecta in Brazilian patientsSemantic proximity Read ↗

Osteogenesis imperfecta—pathophysiology and therapeutic optionsSemantic proximity Read ↗

Genotype–Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta DiseaseSemantic proximity Read ↗

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