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

Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.

American journal of medical genetics. Part A - 1 Mar 2017

Sites Emily R, Smolarek Teresa A, Martin Lisa J, Viskochil David H, Stevenson David A, Ullrich Nicole J, Messiaen Ludwine M, Schorry Elizabeth K

Abstract excerpt

Phenotypic variability among individuals with neurofibromatosis type 1 (NF1) has long been a challenge for clinicians and an enigma for researchers. Members of the same family and even identical twins with NF1 often demonstrate variable disease expression. Many mechanisms for this variability have been proposed. We have performed an exploratory study of copy number variants (CNVs) as a possible source of...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Chromosome Mapping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Genetic Association Studies

Share to Genome-Wide Association Study

Share to Neurofibromatosis 1

Share to Twins, Monozygotic

Share to Young Adult

Source

Identifiers

PMID: 27862945
DOI: 10.1002/ajmg.a.38058

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.PMID 27862945Read ↗

Variable expression of neurofibromatosis 1 in monozygotic twinsSemantic proximity Read ↗

Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.Semantic proximity Read ↗

Monozygotic Twins With Neurofibromatosis Type 1 (NF1) Display Differences in Methylation of<i>NF1</i>Gene Promoter Elements, 5' Untranslated region, Exon and Intron 1Semantic proximity Read ↗

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

One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins.Semantic proximity Read ↗

CNV Concordance in 1,097 MZ Twin Pairs.Semantic proximity Read ↗

Genotypic Variability in Neurofibromin Domains to Predict Phenotypic Outcomes of Neurofibromatosis type 1: Evidence from a Prospective Clinical-Genetic CohortSemantic proximity Read ↗

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental DisordersSemantic proximity Read ↗

Large Autosomal Copy-Number Differences within Unselected Monozygotic Twin Pairs are Rare.Semantic proximity Read ↗

A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family.Semantic proximity Read ↗

Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis.Semantic proximity Read ↗

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

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