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

[Tuberous sclerosis: clinical characteristics and their relationship to genotype/phenotype].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Nov 2014

Monteiro T, Garrido C, Pina S, Chorão R, Carrilho I, Figueiroa S, Santos M, Temudo T

Abstract excerpt

INTRODUCTION: Tuberous sclerosis (TS) is an inherited disorder with multisystemic involvement and a high phenotypic variability. There are two genes that cause this condition: TSC1 and TSC2. OBJECTIVES: Our goal was to clinically characterize patients with TS followed up in the Pediatric Neurology Clinic of a tertiary hospital during the last 10 years, and correlate the genotype with the severity of neurological...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Infant

Share to Severity of Illness Index

Share to Tuberous Sclerosis

Share to Young Adult

Source

Identifiers

PMID: 25066597
DOI: 10.1016/j.anpedi.2014.03.022

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Tuberous sclerosis: clinical characteristics and their relationship to genotype/phenotype].PMID 25066597Read ↗

Severity of manifestations in tuberous sclerosis complex in relation to genotype.Semantic proximity Read ↗

The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian CohortSemantic proximity Read ↗

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

Genotype/Phenotype Correlations in Tuberous Sclerosis Complex.Semantic proximity Read ↗

[Analysis of genotypes, EEG and phenotypes of tuberous sclerosis complex patients].Semantic proximity Read ↗

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

[Clinical and genetic study patients with tuberous sclerosis complex].Semantic proximity Read ↗

Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestationsSemantic proximity Read ↗

Unusual clinical presentation of tuberless tuberous sclerosis complex.Semantic proximity Read ↗

Genetic Screening of Tuberous Sclerosis Complex in Sicily with a Focus on Neurological ManifestationsSemantic proximity Read ↗

MRI findings reveal three different types of tubers in patients with tuberous sclerosis complex.Semantic proximity Read ↗

Genotype and cognitive phenotype of patients with tuberous sclerosis complex.Semantic proximity Read ↗

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