Disease: Dyskeratosis congenita
- <em>de Novo TINF2</em> C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita
- A case report of dyskeratosis congenita caused by a novel TERC mutation
- A de novo TINF2, R282C Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing
- A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome
- A naturally occurring canine model of syndromic congenital microphthalmia
- A new variant in the <em>ZCCHC8</em> gene: diverse clinical phenotypes and expression in the lung
- A Novel Variant and a Missense Variant Identified in the <em>DKC1</em> Gene in Three Chinese Familieswith Dyskeratosis Congenita
- A Novel Variant and a Missense Variant Identified in the DKC1 Gene in Three Chinese Familieswith Dyskeratosis Congenita
- A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1) as a prognostic biomarker
- A Primary Gastrointestinal Presentation and Novel Genetic Variant of Dyskeratosis Congenita in a Pediatric Patient
- A rare homozygous variant in TERT gene causing variable bone marrow failure, fragility fractures, rib anomalies and extremely short telomere lengths with high serum IgE
- A Review of the Repair of DNA Double Strand Breaks in the Development of Oral Cancer
- A systematic approach identifies p53-DREAM pathway target genes associated with blood or brain abnormalities
- A systematic approach identifies p53-DREAM target genes associated with blood or brain abnormalities
- AC125611.3 promotes the progression of colon cancer by recruiting DKC1 to stabilize CTNNB1
- Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a <em>TINF2</em> Variant
- Bone Marrow Failure
- Bone Marrow Failure
- Bone marrow failure and TP53 activating mutations
- Boosting NAD ameliorates hematopoietic impairment linked to short telomeres in vivo
- Buildup from birth onward of short telomeres in human hematopoietic cells
- Can telomeric changes orchestrate the development of autoinflammatory skin diseases?
- Case report: A novel mutation in <em>RTEL1</em> gene in dyskeratosis congenita
- Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita
- Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders
- Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity
- Coats plus syndrome with new observation of drusenoid retinal pigment epithelial detachments in a teenager
- Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report
- Conformational plasticity and allosteric communication networks explain Shelterin protein TPP1 binding to human telomerase
- Congenital and hereditary nail disease
- Control of protein synthesis through mRNA pseudouridylation by dyskerin
- CRISPR screen identifies CEBPB as contributor to dyskeratosis congenita fibroblast senescence via augmented inflammatory gene response
- CRISPR-Screen Identifies CEBPB as Contributor to Dyskeratosis Congenita Fibroblast Senescence Via Augmented Inflammatory Gene Response
- Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH)
- de Novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita
- Dermoscopic and Onychoscopic Features of Dyskeratosis Congenita
- Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease
- Domain specific mutations in dyskerin disrupt 3' end processing of scaRNA13
- Dyskeratosis Congenita
- Dyskeratosis Congenita
- Dyskeratosis congenita and telomere biology disorders
- Dyskeratosis Congenita Links Telomere Attrition to Age-Related Systemic Energetics
- Dyskeratosis Congenita Links Telomere Attrition to Age-Related Systemic Energetics
- Dyskeratosis congenita und Osophagusstriktur bei einem Kleinkind
- Dyskeratosis congenita with heterozygous <em>RTEL1</em> mutations presenting with fibrotic hypersensitivity pneumonitis
- Dyskeratosis congenita with heterozygous RTEL1 mutations presenting with fibrotic hypersensitivity pneumonitis
- Dyskeratosis Congenita: A Case Report of a Patient With Coronary Artery Disease
- Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood
- Editorial: Inherited and acquired ribosomopathies: missing puzzle pieces
- Endoscopic Assessment and Serial Balloon Dilatation in a Toddler With Dyskeratosis Congenita-Hoyeraal-Hreidarsson Syndrome Following Bone Marrow Transplant: A Case Report
- Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability
- Fyn-mediated phosphorylation of Menin disrupts telomere maintenance in stem cells
- Genetic Counseling and Family Screening Recommendations in Patients with Telomere Biology Disorders
- Germline landscape of <em>RPA1, RPA2 and RPA3</em> variants in pediatric malignancies: identification of <em>RPA1</em> as a novel cancer predisposition candidate gene
- Germline Pathogenic Variants in Squamous Cell Carcinoma of the Head and Neck
- Hematopoietic cell transplantation for telomere biology diseases: A retrospective single-center cohort study
- Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria
- Idiopathic non-cirrhotic portal hypertension in dyskeratosis congenita with rare variant of NHP2
- Inherited bone marrow failure syndromes and germline predisposition to myeloid neoplasia: A practical approach for the pathologist
- Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico
- Inherited Reticulate Pigmentary Disorders
- Late Presentation of Dyskeratosis Congenita: Germline Predisposition to Adult-Onset Secondary Acute Myeloid Leukemia
- Leukemia
- Leukemia
- Linking Gene Fusions to Bone Marrow Failure and Malignant Transformation in Dyskeratosis Congenita
- Liver involvement in dyskeratosis congenita-Case series and concise literature review
- Minimal intensity conditioning strategies for bone marrow failure: is it time for "preventative" transplants?
- Multiple-Digit Pigmented Bowen's Disease Induced by Human Papillomavirus in an Immunocompetent Child
- Neonatal intestinal obstruction in Hoyeraal-Hreidarsson syndrome with novel RTEL1 variants
- New Insights into Dyskerin-CypA Interaction: Implications for X-Linked Dyskeratosis Congenita and Beyond
- Next-generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17
- Novel <em>TINF2</em> gene mutation in dyskeratosis congenita with extremely short telomeres: A case report
- Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres: A case report
- p53 in the Molecular Circuitry of Bone Marrow Failure Syndromes
- Painful thickened skin on the soles of the feet
- Patient-Induced Pluripotent Stem Cell-Derived Hepatostellate Organoids Establish a Basis for Liver Pathologies in Telomeropathies
- Posttransplant complications in patients with marrow failure syndromes: are we improving long-term outcomes?
- Preretinal Microvascular Tufts Associated with Dyskeratosis Congenita
- Prevalence of Oral Submucous Fibrosis With Other Oral Potentially Malignant Disorders: A Clinical Retrospective Study
- Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders
- Recent advances in understanding telomere diseases
- Regulator of telomere elongation helicase 1 gene and its association with malignancy
- Severe immunochemotherapy-induced toxicities in a patient with dyskeratosis congenita and literature review
- Severe Thrombocytopenia Due to Bone Marrow Failure in Children With Dyskeratosis Congenita Does Not Respond to Eltrombopag Treatment: Case Series
- Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres
- Spectrum of Liver Pathology in Dyskeratosis Congenita
- Subretinal drusenoid deposits and bilateral capillary peripheral occlusion in a patient with dyskeratosis congenita
- Telomerase RNA-based aptamers restore defective myelopoiesis in congenital neutropenic syndromes
- Telomere biology disorders may manifest as common variable immunodeficiency (CVID)
- Telomere biology disorders: time for moving towards the clinic?
- Telomere length and cancer risk: finding Goldilocks
- The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization
- The distribution and accumulation of the shortest telomeres in telomere biology disorders
- The metabolic basis of inherited neutropenias
- The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis
- The PARN, TOE1, and USB1 RNA deadenylases and their roles in non-coding RNA regulation
- The Use of Social Media to Express and Manage Medical Uncertainty in Dyskeratosis Congenita: Content Analysis
- What is the future of telomere length testing in telomere biology disorders?
- X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene
- X-linked genodermatoses from diagnosis to tailored therapy