Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
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Rothmund-Thomson syndromeHuman RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biologyIntron-size constraint as a mutational mechanism in Rothmund-Thomson syndromeEvidence that the S.cerevisiae Sgs1 protein facilitates recombinational repair of telomeres during senescence.Interventions for preventing keratinocyte cancer in high-risk groups not receiving immunosuppressive therapyGenetics of primary ovarian insufficiency: new developments and opportunitiesSpinal osteosarcomaReplication proteins and human diseaseThe DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formationHow Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend InitiativeRECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenanceRecQ helicases: caretakers of the genomeGermline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy.A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings.Biomarkers in Osteosarcoma.The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.Rothmund-thomson syndrome: a 13-year follow-upAssociation between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.The mutation spectrum in RECQL4 diseases.Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.The versatile RECQL4.Using epidemiology and genomics to understand osteosarcoma etiology.Defective osteogenic differentiation in the development of osteosarcoma.Development of autoimmunity in mice lacking DNA topoisomerase 3betaEpidemiology and genetics of childhood cancer.At-risk populations for osteosarcoma: the syndromes and beyond."...Rewritten in the skin": clues to skin biology and aging from inherited disease.Molecular aetiology and pathogenesis of basal cell carcinoma.Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject.[Hereditary bone tumors].Genetically engineered mouse models and human osteosarcoma.An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis.The Current and Future Therapies for Human Osteosarcoma.Atypical meningioma as a solitary malignancy in a patient with Rothmund-Thompson syndromePremalignant conditions of bone.Syndromes with genetic instability: model diseases for (skin) cancerogenesis.RECQ1 possesses DNA branch migration activity.Osteosarcoma development and stem cell differentiation
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P2860
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
description
2001 nî lūn-bûn
@nan
2001 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
@ast
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
@en
type
label
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
@ast
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
@en
prefLabel
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
@ast
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
@en
P2093
P2860
P1476
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
@en
P2093
Chintagumpala MM
P2860
P356
10.1002/1096-8628(20010722)102:1<11::AID-AJMG1413>3.0.CO;2-A
P577
2001-07-01T00:00:00Z