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

Breakpoint characterization of a novel NF1 multiexonic deletion: a case showing expression of the mutated allele.

Neurogenetics - 1 May 2008

Orzan Francesca, Stroppi Michela, Venturin Marco, Valero M Carmen, Hernández Concepcion, Riva Paola

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a common genetic disease caused by haploinsufficiency of the NF1 tumor-suppressor gene. Different pathogenetic mechanisms have been identified, with the majority (95%) causing intragenic lesions. Single or multiexon NF1 copy number changes occur in about 2% of patients, but little is known about the molecular mechanisms behind these intragenic deletions. We report here on the...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 17
Share to DNA Breaks

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Expression

Share to Genes, Neurofibromatosis 1

Share to In Situ Hybridization, Fluorescence

Share to Neurofibromatosis 1

Share to Sequence Deletion

Source

Identifiers

PMID: 18196300
DOI: 10.1007/s10048-007-0115-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Breakpoint characterization of a novel NF1 multiexonic deletion: a case showing expression of the mutated allele.PMID 18196300Read ↗

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.Semantic proximity Read ↗

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?Semantic proximity Read ↗

Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients.Semantic proximity Read ↗

Whole‐exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1Semantic proximity Read ↗

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.Semantic proximity Read ↗

Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1.Semantic proximity Read ↗

Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouseSemantic proximity Read ↗

NF1 single and multi-exons copy number variations in neurofibromatosis type 1.Semantic proximity Read ↗

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

Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysisSemantic proximity Read ↗

Clinical and molecular characterization of neurofibromatosis in southern Brazil.Semantic proximity Read ↗

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

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