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

Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.

Human genetics - 1 Jun 2024

Tritto Viviana, Bettinaglio Paola, Mangano Eleonora, Cesaretti Claudia, Marasca Federica, Castronovo Chiara, Bordoni Roberta, Battaglia Cristina, Saletti Veronica, Ranzani Valeria, Bodega Beatrice, Eoli Marica, Natacci Federica, Riva Paola

Abstract excerpt

NF1 microdeletion syndrome, accounting for 5-11% of NF1 patients, is caused by a deletion in the NF1 region and it is generally characterized by a severe phenotype. Although 70% of NF1 microdeletion patients presents the same 1.4 Mb type-I deletion, some patients may show additional clinical features. Therefore, the contribution of several pathogenic mechanisms, besides haploinsufficiency of some genes within the...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 17

Share to Epigenesis, Genetic

Share to Haploinsufficiency

Share to Neurofibromatosis 1

Share to Neurofibromin 1

Share to Promoter Regions, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 38874808
DOI: 10.1007/s00439-024-02683-0
PMCID: PMC11186880

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.PMID 38874808Read ↗

Emerging genotype-phenotype relationships in patients with large NF1 deletions.Semantic proximity Read ↗

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.Semantic proximity Read ↗

Elevated Risk for MPNST in NF1 Microdeletion PatientsSemantic proximity Read ↗

NF1 microdeletion syndrome: case report of two new patientsSemantic proximity Read ↗

Genomic organization and evolution of the NF1 microdeletion region☆Semantic proximity Read ↗

NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?Semantic proximity Read ↗

Non-coding structural variants identify a commonly affected regulatory region steering<i>FOXG1</i>transcription in early neurodevelopmentSemantic proximity Read ↗

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review.Semantic proximity Read ↗

Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions.Semantic proximity Read ↗

[Neurofibromatosis-1 microdeletion syndrome.]Semantic proximity Read ↗

Characterization of 22q12 Microdeletions Causing Position Effect in Rare NF2 Patients with Complex Phenotypes.Semantic proximity Read ↗

Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.Semantic proximity Read ↗

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