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

What is new in genetics and osteogenesis imperfecta classification?

Jornal de pediatria - 1 Jan 2000

Valadares Eugênia R, Carneiro Túlio B, Santos Paula M, Oliveira Ana Cristina, Zabel Bernhard

Abstract excerpt

OBJECTIVE: Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification. SOURCES: Literature review in the PubMed and OMIM databases, followed by selection of relevant references. SUMMARY OF THE FINDINGS: In 1979, Sillence et al. developed a classification of OI subtypes based on clinical features and disease severity: OI type I, mild, common, with blue sclera; OI type...

Read the complete abstract on PubMed

Topics

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

Share to Bone and Dental Protein Studies
Share to Collagen Type I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connective tissue disorders research

Share to Dermatological and Skeletal Disorders

Share to Mutation

Share to Osteogenesis Imperfecta

Source

Identifiers

PMID: 25046257
DOI: 10.1016/j.jped.2014.05.003

Genes

BMP1
CRTAP
FKBP10
IFITM5
PLOD2
PLS3
PPIB
SERPINF1
SERPINH1
WNT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

What is new in genetics and osteogenesis imperfecta classification?PMID 25046257Read ↗

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

Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counselingSemantic proximity Read ↗

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

[Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities].Semantic proximity Read ↗

New Genes in Bone Development: What's New in Osteogenesis ImperfectaSemantic proximity Read ↗

Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis ImperfectaSemantic proximity Read ↗

Classification of osteogenesis imperfecta.Semantic proximity Read ↗

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

Osteogenesis imperfecta in Brazilian patientsSemantic proximity Read ↗

Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants.Semantic proximity Read ↗

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

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

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