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

Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta.

The Journal of molecular diagnostics : JMD - 1 Sept 2024

Aliyeva Lamiya, Ongen Yasemin Denkboy, Eren Erdal, Sarisozen Mehmet B, Alemdar Adem, Temel Sehime G, Sag Sebnem Ozemri

Abstract excerpt

Osteogenesis imperfecta (OI) is the most common inherited connective tissue disease of the bone, characterized by recurrent fractures and deformities. In patients displaying the OI phenotype, genotype-phenotype correlation is used to screen multiple genes swiftly, identify new variants, and distinguish between differential diagnoses and mild subtypes. This study evaluated variants identified through...

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 Association Studies

Share to High-Throughput Nucleotide Sequencing

Share to Membrane Glycoproteins

Share to Membrane Proteins

Share to Osteogenesis Imperfecta

Share to Tacrolimus Binding Proteins

Source

Identifiers

PMID: 39025364
DOI: 10.1016/j.jmoldx.2024.05.014

Genes

COL1A1
COL1A2
FKBP10
IFITM5
P3H1
PLS3
SERPINH1

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

Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta.PMID 39025364Read ↗

Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype CorrelationSemantic proximity Read ↗

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.Semantic proximity Read ↗

Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.Semantic proximity Read ↗

Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.Semantic proximity Read ↗

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

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.Semantic proximity Read ↗

Molecular and Clinical Landscape of Osteogenesis Imperfecta: Unraveling Autosomal Recessive Forms, Therapeutic Outcomes, and Bone Mineral Density in Carriers.Semantic proximity Read ↗

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

Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes.Semantic proximity Read ↗

Non-COL1A1/2 genetic burden and osteoporosis-overlap in patients referred with osteogenesis imperfecta phenotype.Semantic proximity Read ↗

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

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