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 screening and prenatal diagnosis in high-risk families with tuberous sclerosis complex syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2021

Lin Rui, Zhao Zhenhua, Liu Li'na, Wang Conghui, Chen Chen, Liu Ning, Meng Jingjing, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To carry out genetic testing and prenatal diagnosis for 29 Chinese pedigrees affected with tuberous sclerosis complex (TSC) and assess efficacy of combined next generation sequencing (NGS) and multiple ligation-dependent probe amplification (MLPA) for the diagnosis. METHODS: NGS and MLPA were used in conjunct to detect variants of TSC1 and TSC2 genes among the probands of the pedigrees. Paternity test...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

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

Source

Identifiers

PMID: 33974250
DOI: 10.3760/cma.j.cn511374-20200325-00203

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Genetic screening and prenatal diagnosis in high-risk families with tuberous sclerosis complex syndrome].PMID 33974250Read ↗

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

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

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

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

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

[Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation].Semantic proximity Read ↗

A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex.Semantic proximity Read ↗

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

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

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

Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children.Semantic proximity Read ↗

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

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