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

[Genetic analysis and prenatal diagnosis for ten families affected with tuberous sclerosis complex].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2018

Pan Yuchun, Wu Weiqing, Luo Caiqun, Xie Jiansheng, Xu Zhiyong, Geng Qian, Hao Ying

Abstract excerpt

OBJECTIVE To provide prenatal diagnosis for families affected with tuberous sclerosis complex and explore the correlation between phenotype and genotype. METHODS For probands from 10 families, all exons and splicing regions of the TSC1 and TSC2 genes were analyzed with high throughput DNA sequencing. Suspected mutations were verified by Sanger sequencing. RESULTS All probands were found to have mutations, which...

Read the complete abstract on PubMed

Topics

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

Share to Family Health
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Tuberous Sclerosis

Share to Tuberous Sclerosis Complex 1 Protein

Share to Tuberous Sclerosis Complex 2 Protein

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 29419853
DOI: 10.3760/cma.j.issn.1003-9406.2018.01.004

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Genetic analysis and prenatal diagnosis for ten families affected with tuberous sclerosis complex].PMID 29419853Read ↗

[Mutation screening and prenatal diagnosis of tuberous sclerosis complex].Semantic proximity Read ↗

[Genetic screening and prenatal diagnosis in high-risk families with tuberous sclerosis complex syndrome].Semantic proximity Read ↗

[Genetic testing and prenatal diagnosis for a pedigree affected with tuberous sclerosis complex].Semantic proximity Read ↗

[Identification of a novel TSC2 gene variant in a patient with tuberous sclerosis complex].Semantic proximity Read ↗

[A case of tuberous sclerosis complex due to a novel splicing variant of TSC2 gene].Semantic proximity Read ↗

[Prenatal diagnostics of tuberous sclerosis based on causal mutation knowledge].Semantic proximity Read ↗

[Detection of TSC1/TSC2 gene mutations among patients with tuberous sclerosis complex by Ion Torrent semiconductor sequencing].Semantic proximity Read ↗

Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing.Semantic proximity Read ↗

Two novel TSC2 mutations in pediatric patients with tuberous sclerosis complex: Case report.Semantic proximity Read ↗

[Detection of TSC1/TSC2 gene mutation for rapid diagnosis of tuberous sclerosis complex by high-throughput sequencing technology].Semantic proximity Read ↗

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

[Novel mutation in TSC2 gene in pediatric patient with clinical diagnosis of tuberous sclerosis].Semantic proximity Read ↗

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