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

Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.

American journal of human genetics - 1 Jun 2023

Klonowska Katarzyna, Giannikou Krinio, Grevelink Joannes M, Boeszoermenyi Barbara, Thorner Aaron R, Herbert Zachary T, Afrin Antara, Treichel Alison M, Hamieh Lana, Kotulska Katarzyna, Jozwiak Sergiusz, Moss Joel, Darling Thomas N, Kwiatkowski David J

Abstract excerpt

Tuberous sclerosis complex (TSC) is a neurogenetic disorder due to loss-of-function TSC1 or TSC2 variants, characterized by tumors affecting multiple organs, including skin, brain, heart, lung, and kidney. Mosaicism for TSC1 or TSC2 variants occurs in 10%-15% of individuals diagnosed with TSC. Here, we report comprehensive characterization of TSC mosaicism by using massively parallel sequencing (MPS) of 330 TSC...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Tuberous Sclerosis

Share to Tuberous Sclerosis Complex 1 Protein

Share to Tuberous Sclerosis Complex 2 Protein

Share to Tuberous Sclerosis Complex Research

Share to Tumor Suppressor Proteins

Share to Tumors and Oncological Cases

Source

Open in PubMed Open full text

Identifiers

PMID: 37141891
DOI: 10.1016/j.ajhg.2023.04.002
PMCID: PMC10257004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.PMID 37141891Read ↗

Low-Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review.Semantic proximity Read ↗

An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.Semantic proximity Read ↗

Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.Semantic proximity Read ↗

Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practiceSemantic proximity Read ↗

Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.Semantic proximity Read ↗

Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex.Semantic proximity Read ↗

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.Semantic proximity Read ↗

Identification of a novel heterozygous TSC2 splicing variant in a patient with Tuberous sclerosis complex: A case report.Semantic proximity Read ↗

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a reviewSemantic proximity Read ↗

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.Semantic proximity Read ↗

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.Semantic proximity Read ↗

A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic.Semantic proximity Read ↗

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