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

Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father.

The New England journal of medicine - 24 Nov 1994

Lázaro C, Ravella A, Gaona A, Volpini V, Estivill X

Abstract excerpt

BACKGROUND: The mutation rate of the neurofibromatosis type 1 (NF1) gene is one of the highest in the human genome, with about 50 percent of cases being due to new mutations. We describe a family in which neurofibromatosis type 1 occurred in two siblings with clinically normal parents, and we demonstrate germ-line mosaicism in the father. METHODS: We studied lymphocyte DNA from each member of the family and the...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to DNA
Share to Gene Deletion

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

Share to Germ-Line Mutation

Share to Mosaicism

Share to Neurofibromatosis 1

Share to Polymerase Chain Reaction

Share to Spermatozoa

Source

Identifiers

PMID: 7969279
DOI: 10.1056/NEJM199411243312102

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

Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father.PMID 7969279Read ↗

Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion.Semantic proximity Read ↗

Clinical presentations of 23 half‐siblings from a mosaic neurofibromatosis type 1 sperm donorSemantic proximity Read ↗

Somatic mosaicism in a patient with neurofibromatosis type 1.Semantic proximity Read ↗

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes.Semantic proximity Read ↗

[Identification of a mosaic mutation of NF1 gene in a sporadic case of neurofibromatosis type 1].Semantic proximity Read ↗

Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son.Semantic proximity Read ↗

Monozygotic twins discordant for neurofibromatosis 1.Semantic proximity Read ↗

Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndromeSemantic proximity Read ↗

Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia.Semantic proximity Read ↗

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

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

Mosaicism in sporadic neurofibromatosis 2 patients.Semantic proximity Read ↗

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