Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.
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Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disordersImputation and subset based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33Interventions for preventing keratinocyte cancer in high-risk groups not receiving immunosuppressive therapyExploring Internal Ribosome Entry Sites as Therapeutic TargetsThe inherited bone marrow failure syndromesAn integrative review of factors associated with telomere length and implications for biobehavioral researchNational Institutes of Health Hematopoietic Cell Transplantation Late Effects Initiative: Consensus Recommendations for Subsequent NeoplasmsThe genomics of inherited bone marrow failure: from mechanism to the clinic.Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium InternatiGenomic characterization of the inherited bone marrow failure syndromes.Genetic predisposition syndromes: when should they be considered in the work-up of MDS?Neonatal manifestations of inherited bone marrow failure syndromes.Telomeres and the natural lifespan limit in humans.Shorter Remission Telomere Length Predicts Delayed Neutrophil Recovery After Acute Myeloid Leukemia Therapy: A Report From the Children's Oncology Group.On the road with WRAP53β: guardian of Cajal bodies and genome integrityHoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.Marrow failure: a window into ribosome biologyUnraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderBone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders.A case report on a rare disease: dyskeratosis congenita.Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variationImpaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients.Immune status of patients with inherited bone marrow failure syndromes.Cell cycle control (and more) by programmed -1 ribosomal frameshifting: implications for disease and therapeuticsHoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-UpThe limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita.Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigationsHematopoietic stem cells are acutely sensitive to Acd shelterin gene inactivation.Response to androgen therapy in patients with dyskeratosis congenita.The wide-ranging clinical implications of the short telomere syndromes.Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.Periodontal and other oral manifestations of immunodeficiency diseases.Telomere-driven diseases and telomere-targeting therapies.Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives.Telomere length is an independent prognostic marker in MDS but not in de novo AML.Familial Myelodysplastic/Acute Leukemia Syndromes-Myeloid Neoplasms with Germline PredispositionHoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype.Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan.Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
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Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.
description
article científic
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article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
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artikull shkencor
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artículo científico
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name
Updates on the biology and man ...... ed telomere biology disorders.
@en
type
label
Updates on the biology and man ...... ed telomere biology disorders.
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prefLabel
Updates on the biology and man ...... ed telomere biology disorders.
@en
P2860
P356
P1476
Updates on the biology and man ...... ed telomere biology disorders.
@en
P2093
Bari J Ballew
P2860
P304
P356
10.1586/EHM.13.23
P577
2013-06-01T00:00:00Z