Rothmund-Thomson syndrome: review of the world literature.
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Rothmund-Thomson syndromeStructural and functional analyses of disease-causing missense mutations in Bloom syndrome proteinIntron-size constraint as a mutational mechanism in Rothmund-Thomson syndromeRoles of Werner syndrome protein in protection of genome integrityRoles of RECQ helicases in recombination based DNA repair, genomic stability and agingReplication proteins and human diseaseRecQ helicases in DNA double strand break repair and telomere maintenance.Hutchinson-Guilford progeria syndromeRECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenanceRecQ4 facilitates UV light-induced DNA damage repair through interaction with nucleotide excision repair factor xeroderma pigmentosum group A (XPA)The involvement of human RECQL4 in DNA double-strand break repair.Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome.Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.Conserved helicase domain of human RecQ4 is required for strand annealing-independent DNA unwinding.Ectodermal dysplasias: a new clinical-genetic classificationThe RecQ4 orthologue Hrq1 is critical for DNA interstrand cross-link repair and genome stability in fission yeast.Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome.Genetically engineered mouse models and human osteosarcoma.Immunohistochemical Loss of the DNA Mismatch Repair Proteins MSH2 and MSH6 in Malignant Fibrous HistiocytomasClinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome.Disruption of Supv3L1 damages the skin and causes sarcopenia, loss of fat, and death.RecQ4: the second replicative helicase?The eye as a window to rare endocrine disorders.Control of translocations between highly diverged genes by Sgs1, the Saccharomyces cerevisiae homolog of the Bloom's syndrome protein.Anesthetic management in a patient with Kindler's syndromeDental management of Rothmund-Thomson syndrome with partial anodontiaRothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndromeOphthalmic manifestations in Rothmund-Thomson syndrome: Case report and review of literature.
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P2860
Rothmund-Thomson syndrome: review of the world literature.
description
1992 nî lūn-bûn
@nan
1992 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Rothmund-Thomson syndrome: review of the world literature.
@ast
Rothmund-Thomson syndrome: review of the world literature.
@en
type
label
Rothmund-Thomson syndrome: review of the world literature.
@ast
Rothmund-Thomson syndrome: review of the world literature.
@en
prefLabel
Rothmund-Thomson syndrome: review of the world literature.
@ast
Rothmund-Thomson syndrome: review of the world literature.
@en
P2093
P1476
Rothmund-Thomson syndrome: review of the world literature.
@en
P2093
P304
P407
P433
P577
1992-11-01T00:00:00Z