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 TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis.

Molecular genetics and genomics : MGG - 26 Dec 2024

Eser Metin, Hekimoglu Gulam, Kutlubay Busra, Sager Safiye Gunes, Turkyilmaz Ayberk

Abstract excerpt

Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the formation of benign tumors in various organs, particularly in the central nervous system. We aimed to delineate the molecular profile of Turkish individuals diagnosed with TSC by analyzing the TSC1 and TSC2 genes using next-generation sequencing (NGS). Sophia Genetics' Sophia Inherited Disease Panel was used to perform NGS on 22...

Read the complete abstract on PubMed

Topics

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

Share to Autism Spectrum Disorder
Share to Genetic Association Studies

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

Share to High-Throughput Nucleotide Sequencing

Share to Intellectual Disability

Share to Tuberous Sclerosis

Share to Tuberous Sclerosis Complex 1 Protein

Share to Tuberous Sclerosis Complex 2 Protein

Share to Turkey

Source

Identifiers

PMID: 39722056
DOI: 10.1007/s00438-024-02210-w

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 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

Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis.PMID 39722056Read ↗

Genetic analysis of 18 families with tuberous sclerosis complex.Semantic proximity Read ↗

Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from GreeceSemantic proximity Read ↗

Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.Semantic proximity Read ↗

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

Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort StudySemantic proximity Read ↗

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.Semantic proximity Read ↗

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

New developments in the neurobiology of the tuberous sclerosis complexSemantic proximity Read ↗

Updated Genotype-Phenotype Correlations in TSC.Semantic proximity Read ↗

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

TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.Semantic proximity Read ↗

Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.Semantic proximity Read ↗

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