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

Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?

Human mutation - 1 Jan 1997

Cnossen M H, van der Est M N, Breuning M H, van Asperen C J, Breslau-Siderius E J, van der Ploeg A T, de Goede-Bolder A, van den Ouweland A M, Halley D J, Niermeijer M F

Abstract excerpt

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by abnormalities of tissues predominantly derived from the neural crest. Symptoms are highly variable and severity cannot be predicted, even within families. DNA of 84 unrelated patients with NF1, unselected for clinic...

Topics

Adolescent
Adult
Blotting, Southern
Child
DNA, Satellite
Female
Gene Deletion
Genes, Neurofibromatosis 1
Genomic Imprinting
Genotype
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Source

Identifiers

PMID: 9143927
DOI: 10.1002/(SICI)1098-1004(1997)9:5<458::AID-HUMU13>3.0.CO;2-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9143927-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?PMID 9143927Read ↗

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.Semantic proximity Read ↗

Do NF1 gene deletions result in a characteristic phenotype?Semantic proximity Read ↗

Screening 500 unselected neurofibromatosis 1 patients for deletions of the <i>NF1</i> geneSemantic proximity Read ↗

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delaySemantic proximity Read ↗

Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients.Semantic proximity Read ↗

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.Semantic proximity Read ↗

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

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

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.Semantic proximity Read ↗

Severe Phenotype in Patients with Large Deletions of NF1Semantic proximity Read ↗

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

Genetics of neurofibromatosis 1 and the NF1 gene.Semantic proximity Read ↗

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