Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.

No abstract is available for this paper.

• Publication year

  1996

• Venue

  Journal of Medical Genetics

• Publication date

  1996-11-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/jmg.33.11.928PMID 8950673PMCID PMC1050787
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Effects of X-irradiation in G1 and G2 on Bloom's syndrome and normal chromosomes

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• The effects of ageing on cutaneous wound healing in mammals.

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• Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome.

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• Radiation-induced G2 Delay and Spontaneous Chromosome Aberrations in Ataxia-telangiectasia Homozygotes and Heterozygotes.

  1994cited by this paper
• Genetic predisposition in breast cancer.

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• Rothmund‐Thomson Syndrome Associated with Annular Pancreas and Duodenal Stenosis: A Case Report

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• A case of Rothmund-Thomson syndrome with reduced DNA repair capacity.

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• Cytogenetic response to G2-phase X irradiation in relation to DNA repair and radiosensitivity in a cancer-prone family with Li-Fraumeni syndrome.

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• Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.

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• Clonal lines of aneuploid cells in Rothmund-Thomson syndrome.

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• Structural and functional changes of normal aging skin.

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• Chromatid damage after G2 phase x-irradiation of cells from cancer-prone individuals implicates deficiency in DNA repair.

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• Enhanced radiosensitivity and defective DNA repair in cultured fibroblasts derived from Rothmund Thomson syndrome patients.

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• Cell death, chromosome damage and mitotic delay in normal human, ataxia telangiectasia and retinoblastoma fibroblasts after x-irradiation.

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• [Not Available].

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• AN HITHERTO UNDESCRIBED FAMILIAL DISEASE

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• SKIN DISEASES OF ENDOCRINE ORIGIN (DYSHORMONAL DERMATOSES): POIKILODERMA-LIKE CHANGES IN CONNECTION WITH UNDERDEVELOPMENT OF THE SEXUAL GLANDS AND DYSTROPHIA ADIPOSOGENITALIS

  year unknowncited by this paper
• Predisposition for Breast Cancer

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• Molecular and Cellular Responses to Ionization Radiation in Untransformed Fibroblasts from the Rothmund–Thomson Syndrome: Influence of the Nucleo-Shuttling of the ATM Protein Kinase

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• Understanding photodermatoses associated with defective DNA repair: Syndromes with cancer predisposition.

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• Valoración de factores etiopatogénicos, clinicopatológicos y pronósticos del carcinoma espinocelular

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• Oral Findings of Rothmund-Thomson Syndrome

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• Activation of p38 MAP kinase and stress signalling in fibroblasts from the progeroid Rothmund–Thomson syndrome

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• Therapy‐resistant leg ulcer in a patient with Rothmund‐Thomson syndrome

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• Rothmund-Thomson syndrome helicase, RECQ4: on the crossroad between DNA replication and repair.

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• Rothmund-Thomson syndrome

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• Direct and indirect roles of RECQL4 in modulating base excision repair capacity.

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• G₂ chromosomal radiosensitivity in childhood and adolescent cancer survivors and their offspring

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• Progeria and Progeroid Syndromes (Premature Ageing Disorders)

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• DNA repair helicases as targets for anti-cancer therapy.

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• Rothmund-Thomson syndrome. The first case with plantar keratoderma and the second with coeliac disease.

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• DNA Repair Aspects for RecQ Helicase Disorders

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• Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.

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• Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome.

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• Human diseases deficient in RecQ helicases.

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• RecQ helicases: suppressors of tumorigenesis and premature aging.

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• Rothmund–Thomson Syndrome in Three Siblings and Development of Cutaneous Squamous Cell Carcinoma

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• Rothmund–Thomson Syndrome with Myelodysplasia

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• Osteogenic Sarcoma Associated With Diamond–Blackfan Anemia: A Report From the Diamond–Blackfan Anemia Registry

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• Two Primary Osteosarcomas in a Patient With Rothmund-Thomson Syndrome

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• Analysis of genomic instability using multiple assays in a patient with Rothmund–Thomson syndrome

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• Variable presentation of Rothmund-Thomson syndrome.

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• Linking DNA damage and neurodegeneration.

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• Increased chromosomal radiosensitivity in breast cancer patients: a comparison of two assays.

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• Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.

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• What syndrome is this? Rothmund-Thomson syndrome (poikiloderma congenitale).

  1999cites this paper
• Radiation-induced micronucleus induction in lymphocytes identifies a high frequency of radiosensitive cases among breast cancer patients: a test for predisposition?

  1998cites this paper
• Genetic susceptibility to cancer. ICRP publication 79. Approved by the Commission in May 1997. International Commission on Radiological Protection.

  1998cites this paper
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  1998cites this paper
• Genodermatosis with Reticulate, Patchy and Mottled Pigmentation of the Neck – A Clue to Rare Dermatologic Disorders

  1998cites this paper
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  1998cites this paper
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  1997cites this paper
• What Syndrome Is This?

  1996cites this paper