Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.

doi:10.1186/s13023-019-1189-z

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

Community

Back to search

Article

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.

Orphanet journal of rare diseases - 11 Dec 2019

Grelet Maude, Blanck Véronique, Sigaudy Sabine, Philip Nicole, Giuliano Fabienne, Khachnaoui Khaoula, Morel Godelieve, Grotto Sarah, Sophie Julia, Poirsier Céline, Lespinasse James, Alric Laurent, Calvas Patrick, Chalhoub Gihane, Layet Valérie, Molin Arnaud, Colson Cindy, Marsili Luisa, Edery Patrick, Lévy Nicolas, De Sandre-Giovannoli Annachiara

Abstract excerpt

BACKGROUND: Segmental progeroid syndromes are a heterogeneous group of rare and often severe genetic disorders that have been studied since the twentieth century. These progeroid syndromes are defined as segmental because only some of the features observed during natural aging are accelerated. METHODS: Since 2015, the Molecular Genetics Laboratory in Marseille La Timone Hospital proposes molecular diagnosis of...

Read the complete abstract on PubMed

Topics

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

Share to Aging, Premature

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Genetic Counseling

Share to Genetic Testing

Share to Genomics

Share to High-Throughput Nucleotide Sequencing

Share to Infant

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 31829210
DOI: 10.1186/s13023-019-1189-z
PMCID: PMC6907233

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

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.PMID 31829210Read ↗

Premature aging disorders: A clinical and genetic compendium.Semantic proximity Read ↗

Unraveling the mysteries of Hutchinson-Gilford progeria syndrome: a comprehensive review of LMNA gene mutations.Semantic proximity Read ↗

A novel single-cell RNA-sequencing platform and its applicability connecting genotype to phenotype in ageing-diseaseSemantic proximity Read ↗

Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China.Semantic proximity Read ↗

Premature aging syndromes: From patients to mechanism.Semantic proximity Read ↗

Hereditary Syndromes With Signs of Premature AgingSemantic proximity Read ↗

Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.Semantic proximity Read ↗

The diagnostic utility of exome-based carrier screening in families with a positive family history.Semantic proximity Read ↗

Recent research advances in disease models of Hutchinson-Gilford Progeria SyndromeSemantic proximity Read ↗

Deciphering the consequence of deep intronic variants: a progeroid syndrome caused by a<i>TAPT1</i>mutation is revealed by combined RNA/SI-NET sequencingSemantic proximity Read ↗

Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome.Semantic proximity Read ↗

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