about
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disordersDetectable clonal mosaicism and its relationship to aging and cancerImputation and subset based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33Characterization of large structural genetic mosaicism in human autosomeAnalysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer typesTelomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cellsTINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenitaA genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinomaFemale chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosomeTelomere length is associated with disease severity and declines with age in dyskeratosis congenitaLifetime pesticide use and telomere shortening among male pesticide applicators in the Agricultural Health StudyGenome-wide association study identifies variants in casein kinase II (CSNK2A2) to be associated with leukocyte telomere length in a Punjabi Sikh diabetic cohortEpidemiologic evidence for a role of telomere dysfunction in cancer etiologyThe Biomarkers of Exposure and Effect in Agriculture (BEEA) Study: Rationale, Design, Methods, and Participant CharacteristicsThe long and short of telomeres and cancer association studiesTelomere length and risk of gliomaGenome-wide association study identifies two susceptibility loci for osteosarcomaCancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.Late Effects Screening Guidelines after Hematopoietic Cell Transplantation (HCT) for Inherited Bone Marrow Failure Syndromes (IBMFS): Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on LaGermline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy.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 InternatiPatterns of bone sarcomas as a second malignancy in relation to radiotherapy in adulthood and histologic type.Genetic variation, nucleotide diversity, and linkage disequilibrium in seven telomere stability genes suggest that these genes may be under constraint.Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.Osteosarcoma incidence and survival rates from 1973 to 2004: data from the Surveillance, Epidemiology, and End Results ProgramGenomic characterization of the inherited bone marrow failure syndromes.Neonatal manifestations of inherited bone marrow failure syndromes.Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia.LINE-1 methylation is inherited in familial testicular cancer kindreds.Telomeres and the natural lifespan limit in humans.Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.Rare missense variants in POT1 predispose to familial cutaneous malignant melanomaSequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita.Current state of pediatric sarcoma biology and opportunities for future discovery: A report from the sarcoma translational research workshop.Genome-wide association study of relative telomere length.A comprehensive candidate gene approach identifies genetic variation associated with osteosarcoma.Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review.Worldwide genetic structure in 37 genes important in telomere biology.Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Sharon Savage
@ast
Sharon Savage
@en
Sharon Savage
@es
Sharon Savage
@nl
Sharon Savage
@sl
type
label
Sharon Savage
@ast
Sharon Savage
@en
Sharon Savage
@es
Sharon Savage
@nl
Sharon Savage
@sl
prefLabel
Sharon Savage
@ast
Sharon Savage
@en
Sharon Savage
@es
Sharon Savage
@nl
Sharon Savage
@sl
P1053
B-9747-2015
P106
P1153
56393951900
7103218448
P2798
P31
P3829
P496
0000-0001-6006-0740