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

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1

17 Apr 2018

Abstract excerpt

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases. It is caused by mutations in the NF1 gene encoding for the large protein, neurofibromin. Genetic testing of NF1 is cumbersome because 50% of cases are sporadic, and there are no mutation hot spots. In addition, the most recognizable NF1 clinical features—café-au-lait (CALs) spots and axillary and/or inguinal...

Read the complete abstract on PubMed

Topics

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

Share to Meningioma and schwannoma management
Share to Neurofibromatosis and Schwannoma Cases
Share to Sarcoma Diagnosis and Treatment

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 29673180
DOI: 10.3390/genes9040216

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1PMID 29673180Read ↗

Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.Semantic proximity Read ↗

Toward More Accurate Diagnosis in Neurofibromatosis Type 1: A Dual-Level Analysis of Clinical and Molecular Data with Exploratory Genotype-Phenotype Correlations in a Romanian Cohort.Semantic proximity Read ↗

A Case Report of Neurofibromatosis Type 1 Caused by NF1 Gene MutationSemantic proximity Read ↗

Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants.Semantic proximity Read ↗

Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective StudySemantic proximity Read ↗

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.Semantic proximity Read ↗

Diagnostic difficulties and possibilities of NF1-like syndromes in childhood.Semantic proximity Read ↗

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.Semantic proximity Read ↗

Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.Semantic proximity Read ↗

Unraveling novel variants in the NF1 gene and investigating potential therapeutic strategiesSemantic proximity Read ↗

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.Semantic proximity Read ↗

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort StudySemantic proximity Read ↗

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