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

Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice.

Scientific reports - 23 Jun 2016

Árvai Kristóf, Horváth Péter, Balla Bernadett, Tobiás Bálint, Kató Karina, Kirschner Gyöngyi, Klujber Valéria, Lakatos Péter, Kósa János P

Abstract excerpt

Next generation sequencing (NGS) is a rapidly developing area in genetics. Utilizing this technology in the management of disorders with complex genetic background and not recurrent mutation hot spots can be extremely useful. In this study, we applied NGS, namely semiconductor sequencing to determine the most significant osteogenesis imperfecta-related genetic variants in the clinical practice. We selected genes...

Read the complete abstract on PubMed

Topics

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

Share to Bone Density
Share to Collagen Type I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type I, alpha 1 Chain

Share to Extracellular Matrix Proteins

Share to Membrane Glycoproteins

Share to Molecular Chaperones

Share to Osteogenesis Imperfecta

Share to Proteoglycans

Source

Open in PubMed Open full text

Identifiers

PMID: 27335225
DOI: 10.1038/srep28417
PMCID: PMC4917842

Genes

CRTAP

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

Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice.PMID 27335225Read ↗

New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II CollagenopathiesSemantic proximity Read ↗

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

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.Semantic proximity Read ↗

Development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta.Semantic proximity Read ↗

Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfectaSemantic proximity Read ↗

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

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

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

Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.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 ↗

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

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