The molecular genetics of the telomere biology disorders.
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The 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 InternatiGenetic divergence in the transcriptional engram of chronic alcohol abuse: A laser-capture RNA-seq study of the mouse mesocorticolimbic system.Disrupted lymphocyte homeostasis in hepatitis-associated acquired aplastic anemia is associated with short telomeres.The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita.Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.Special focus on telomeres and telomerase.Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.Clonal hematopoiesis in patients with dyskeratosis congenita.Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita.Reduced telomere length is associated with fibrotic joint disease suggesting that impaired telomere repair contributes to joint fibrosis.Non-random length distribution of individual telomeres in immunodeficiency, centromeric instability and facial anomalies syndrome, type I.Beyond the triad: inheritance, mucocutaneous phenotype, and mortality in a cohort of patients with dyskeratosis congenita.Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.From clinical observations and molecular dissection to novel therapeutic strategies for primary immunodeficiency disorders.The age of heterozygous telomerase mutant parents influences the adult phenotype of their offspring irrespective of genotype in zebrafish.The Guardian of the Genome Revisited: p53 Downregulates Genes Required for Telomere Maintenance, DNA Repair, and Centromere Structure.Beginning at the ends: telomeres and human disease.Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenitaDiagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders
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The molecular genetics of the telomere biology disorders.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 23 September 2015
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
The molecular genetics of the telomere biology disorders.
@en
The molecular genetics of the telomere biology disorders.
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type
label
The molecular genetics of the telomere biology disorders.
@en
The molecular genetics of the telomere biology disorders.
@nl
prefLabel
The molecular genetics of the telomere biology disorders.
@en
The molecular genetics of the telomere biology disorders.
@nl
P2860
P1433
P1476
The molecular genetics of the telomere biology disorders.
@en
P2093
Alison A Bertuch
P2860
P304
P356
10.1080/15476286.2015.1094596
P577
2015-09-23T00:00:00Z