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

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.

Human reproduction (Oxford, England) - 1 Feb 2026

Vernimmen V, De Rycke M, Moutou C, Dreesen J, Blok M J, van Minkelen R, Lauer-Zillhardt J, Verdyck P, Keymolen K, van Uum C, Homminga I, Brandts L, Stumpel C T R M, Coonen E, Heijligers M, van Zelst-Stams W, Zamani Esteki M, van den Wijngaard A, de Die-Smulders C E M, Paulussen A D C

Abstract excerpt

STUDY QUESTION: How do the genetic complexities of neurofibromatosis type 1 (NF1) impact reproductive counseling, preimplantation genetic testing (PGT) design, and PGT treatment? SUMMARY ANSWER: We established association between both incidence and tissue mosaicism with multiple exon deletions and specific single-nucleotide variants (SNVs) in neurofibromin 1 (NF1), a clinical actionable finding that we structured...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Counseling
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mosaicism

Share to Neurofibromatosis 1

Share to Neurofibromin 1

Share to Polymorphism, Single Nucleotide

Share to Pregnancy

Share to Preimplantation Diagnosis

Source

Open in PubMed Open full text

Identifiers

PMID: 41289058
DOI: 10.1093/humrep/deaf224
PMCID: PMC12864152

Genes

NF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.PMID 41289058Read ↗

Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experienceSemantic proximity Read ↗

Preimplantation Genetic Testing in a Family with Neurofibromatosis Type 1Semantic proximity Read ↗

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

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associationsSemantic proximity Read ↗

Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.Semantic proximity Read ↗

A genotype-first approach identifies high incidence of<i>NF1</i>pathogenic variants with distinct disease associationsSemantic proximity Read ↗

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencingSemantic proximity Read ↗

Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1.Semantic proximity Read ↗

Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling.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 ↗

Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis—Practice Resource of the National Society of Genetic CounselorsSemantic proximity Read ↗

Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1.Semantic proximity Read ↗

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