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

A novel mutation in COL1A1 causing osteogenesis imperfecta/hearing loss.

Brazilian journal of otorhinolaryngology - 1 Jan 2000

Pan Ti-Ti, Han Lin, Zheng Hong-Wei, Xing Zhi-Min, Yu Li-Sheng, Liu Yuan-Jun

Abstract excerpt

OBJECTIVES: To screen the COL1A1 and COL1A2 gene mutation sites in a family with type I osteogenesis imperfecta (OI)/hearing loss and analyze the characteristics and recovery of hearing loss in patients with osteogenesis imperfecta. METHODS: The basic clinical data of OI proband and her parents were collected, and the COL1A1 and COL1A2 genes were detected in peripheral blood by PCR amplification and generation...

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type I, alpha 1 Chain
Share to Deafness
Share to Hearing Loss

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Osteogenesis Imperfecta

Source

Open in PubMed Open full text

Identifiers

PMID: 37678008
DOI: 10.1016/j.bjorl.2023.101312
PMCID: PMC10495631

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in COL1A1 causing osteogenesis imperfecta/hearing loss.PMID 37678008Read ↗

Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.Semantic proximity Read ↗

Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.Semantic proximity Read ↗

A novel de novo mutation in COL1A1 leading to osteogenesis imperfecta confirmed by zebrafish model.Semantic proximity Read ↗

Type III Osteogenesis Imperfecta and COL1A1 Pathological Variants Are Associated With Higher Incidence and Progression of Hearing Loss.Semantic proximity Read ↗

Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta.Semantic proximity Read ↗

Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.Semantic proximity Read ↗

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

Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfectaSemantic 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 ↗

Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta.Semantic proximity Read ↗

A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.Semantic proximity Read ↗

A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.Semantic proximity Read ↗

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