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

Genome-wide association study of café-au-lait macule number in neurofibromatosis type 1.

Molecular genetics & genomic medicine - 1 Oct 2020

Sung Heejong, Hyland Paula L, Pemov Alexander, Sabourin Jeremy A, Baldwin Andrea M, Bass Sara, Teshome Kedest, Luo Wen, Widemann Brigitte C, Stewart Douglas R, Wilson Alexander F

Abstract excerpt

BACKGROUND: Neurofibromatosis type 1 (NF1) is a tumor-predisposition disorder that arises due to pathogenic variants in tumor suppressor NF1. NF1 has variable expressivity that may be due, at least in part, from heritable elements such as modifier genes; however, few genetic modifiers have been identified to date. METHODS: In this study, we performed a genome-wide association analysis of the number of...

Read the complete abstract on PubMed

Topics

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

Share to Cafe-au-Lait Spots
Share to NF1 gene

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

Share to Neurofibromatosis 1

Share to Polymorphism, Single Nucleotide

Share to Ribosomal Protein S6 Kinases, 90-kDa

Source

Open in PubMed Open full text

Identifiers

PMID: 32869517
DOI: 10.1002/mgg3.1400
PMCID: PMC7549607

Genes

NF1
RPS6KA2
CALM1
CALM2

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genome-wide association study of café-au-lait macule number in neurofibromatosis type 1.PMID 32869517Read ↗

Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis.Semantic proximity Read ↗

Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1Semantic proximity Read ↗

Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).Semantic proximity Read ↗

Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas.Semantic proximity Read ↗

Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.Semantic proximity Read ↗

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

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

Somatic Mutation Analysis in NF1 Café au lait Spots Reveals Two NF1 Hits in the MelanocytesSemantic proximity Read ↗

A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality.Semantic proximity Read ↗

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous DisordersSemantic proximity Read ↗

Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.Semantic proximity Read ↗

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.Semantic proximity Read ↗

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