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 Counseling and Family Screening Recommendations in Patients with Telomere Biology Disorders.

Current hematologic malignancy reports - 1 Dec 2023

Ongie Laura, Raj Hannah A, Stevens Katie Barrett

Abstract excerpt

PURPOSE OF REVIEW: Telomere biology disorders (TBDs) encompass a spectrum of genetic diseases with a common pathogenesis of defects in telomerase function and telomere maintenance causing extremely short telomere lengths. Here, we review the current literature surrounding genetic testing strategies, cascade testing, reproductive implications, and the role of genetic counseling. RECENT FINDINGS: The understanding...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Counseling
Share to Genetic Testing
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Telomerase

Share to Telomere

Source

Identifiers

PMID: 37787873
DOI: 10.1007/s11899-023-00713-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic Counseling and Family Screening Recommendations in Patients with Telomere Biology Disorders.PMID 37787873Read ↗

Genetics of human telomere biology disordersSemantic proximity Read ↗

Clinical manifestations of telomere biology disorders in adultsSemantic proximity Read ↗

Functional genomics for curation of variants in telomere biology disorder associated genes, a systematic reviewSemantic proximity Read ↗

Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review.Semantic proximity Read ↗

The molecular genetics of the telomere biology disorders.Semantic proximity Read ↗

Telomere biology disordersSemantic proximity Read ↗

Diagnosis and Management of Pulmonary Manifestations of Telomere Biology DisordersSemantic proximity Read ↗

Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.Semantic proximity Read ↗

Inherited Telomere Biology Disorders: Pathophysiology, Clinical Presentation, Diagnostics, and TreatmentSemantic proximity Read ↗

The genetics and clinical manifestations of telomere biology disorders.Semantic proximity Read ↗

Clonal hematopoiesis in telomere biology disorders.Semantic proximity Read ↗

Telomeres and Human Disease.Semantic proximity Read ↗

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