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

Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite.

Journal of human genetics - 1 Jan 2003

Roversi Gaia, Beghini Alessandro, Zambruno Giovanna, Paradisi Mauro, Larizza Lidia

Abstract excerpt

Rothmund-Thomson syndrome is a rare autosomal recessive disorder characterized by a widely heterogeneous clinical presentation. Only a subset of clinically diagnosed patients carry RECQL4 gene mutations, probably because of their genetic heterogeneity and/or the complexity of molecular testing. We here describe the polymorphic sites of the RECQL4 gene that detail its genomic structure and may be of interest as...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Triphosphatases
Share to Alleles

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Helicases

Share to Enhancer Elements, Genetic

Share to Minisatellite Repeats

Share to RecQ Helicases

Share to Rothmund-Thomson Syndrome

Source

Identifiers

PMID: 12601557
DOI: 10.1007/s100380300016

Genes

RECQL4

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

Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite.PMID 12601557Read ↗

Rothmund–Thomson Syndrome Responsible Gene, RECQL4: Genomic Structure and ProductsSemantic proximity Read ↗

Functional characterisation of a RECQL4 mutation in Rothmund-Thomson syndromeSemantic proximity Read ↗

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.Semantic proximity Read ↗

The versatile RECQL4.Semantic proximity Read ↗

Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.Semantic proximity Read ↗

Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome.Semantic proximity Read ↗

Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.Semantic proximity Read ↗

Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.Semantic proximity Read ↗

Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.Semantic proximity Read ↗

Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene.Semantic proximity Read ↗

[Analysis of RECQL4 gene variant in a child with Rothmund-Thomson syndrome].Semantic proximity Read ↗

The mutation spectrum in RECQL4 diseases.Semantic proximity Read ↗

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