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

Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.

Genes - 9 Nov 2021

Ravasi Giulia, Pelucchi Sara, Bertola Francesca, Capelletti Martina Maria, Mariani Raffaella, Piperno Alberto

Abstract excerpt

BACKGROUND: Several inherited diseases cause hyperferritinemia with or without iron overload. Differential diagnosis is complex and requires an extensive work-up. Currently, a clinical-guided approach to genetic tests is performed based on gene-by-gene sequencing. Although reasonable, this approach is expensive and time-consuming and Next Generation Sequencing (NGS) technology may provide cheaper and quicker...

Read the complete abstract on PubMed

Topics

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

Share to Cation Transport Proteins
Share to Ferroportin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene-Environment Interaction

Share to GPI-Linked Proteins

Share to Hemochromatosis Protein

Share to Hepcidins

Share to Receptors, Transferrin

Share to Tertiary Care Centers

Source

Open in PubMed Open full text

Identifiers

PMID: 34828384
DOI: 10.3390/genes12111778
PMCID: PMC8623017

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.PMID 34828384Read ↗

Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.Semantic proximity Read ↗

Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.Semantic proximity Read ↗

Clinical Exome Sequencing in Unexplained Hyperferritinemia Reveals Digenic and Oligogenic Inheritance Beyond Iron Homeostasis.Semantic proximity Read ↗

Next-generation sequencing: Application of a novel platform to analyze atypical iron disorders.Semantic proximity Read ↗

The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.Semantic proximity Read ↗

Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.Semantic proximity Read ↗

MRI-Based Iron Phenotyping and Patient Selection for Next-Generation Sequencing of Non-Homeostatic Iron Regulator Hemochromatosis Genes.Semantic proximity Read ↗

The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease)Semantic proximity Read ↗

Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.Semantic proximity Read ↗

A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.Semantic proximity Read ↗

Global sequencing approach for characterizing the molecular background of hereditary iron disorders.Semantic proximity Read ↗

Iron disorders of genetic origin: a changing world.Semantic proximity Read ↗

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