Associated Papers
The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.
Margariti A et al.
Life (basel, Switzerland), 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
41659036 (PubMed )
Supplement: DataSheet1.pdf
Early-onset gynecological tumors in DNA repair-deficient xeroderma pigmentosum group C patients: a case series.
Yurchenko AA et al.
Communications Medicine, 2023
Germline pathogenic variants in patients with early-onset neuroendocrine neoplasms.
Riechelmann RP et al.
Endocrine-related Cancer, 2023
First genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP-C founder mutation.
Khalat N et al.
Molecular Genetics & Genomic Medicine, 2023
Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients.
Kobayashi H et al.
The Journal of Dermatology, 2023
Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.
Langenberg KPS et al.
European Journal of Cancer (oxford, England : 1990), 2022
36182817 (PubMed )
Supplement: mmc6.xlsx › Sheet1
Clinical, immunological, and genetic investigations in a rare association of type 1 diabetes with xeroderma pigmentosum.
Taieb A et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2022
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.
Gargallo P et al.
Cancers, 2021
Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins.
Rabie E et al.
Genes, 2021
Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses.
Chacón-Solano E et al.
The British Journal of Dermatology, 2019
30693469 (PubMed )
Supplement: BJD-181-512-s003.xlsx › a__RNA-Seq_samples
Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia.
Jerbi M et al.
The British Journal of Dermatology, 2016
Skin cancers, blindness, and anterior tongue mass in African brothers.
Mahindra P et al.
Journal of the American Academy of Dermatology, 2008
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