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721 results
  • ATP-dependent helicase activity is dispensable for the physiological functions of Recql4. [Journal Article]
    PLoS Genet 2019; 15(7):e1008266Castillo-Tandazo W, Smeets MF, … Walkley CR
  • Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by skin rash (poikiloderma), skeletal dysplasia, small stature, juvenile cataracts, sparse or absent hair, and predisposition to specific malignancies such as osteosarcoma and hematological neoplasms. RTS is caused by germ-line mutations in RECQL4, a RecQ helicase family member. In vitro studies have identified f…
  • Skin cancers in patients of skin phototype V or VI with xeroderma pigmentosum type C (XP-C): A retrospective study. [Journal Article]
    Ann Dermatol Venereol 2019; 146(3):192-203Ventéjou S, Bagny K, … Osdoit S
  • CONCLUSIONS: Our cohort showed a high prevalence of skin cancer in XP-C patients of phototype V and VI exposed to UV radiation in a tropical region. SCCs were the most common tumours. The prevalence of melanoma was high, with major risk compared to controls of the same skin phototype. In addition, we found a high prevalence of sarcomas (5 patients). Initial cancers occurred early (5.4 years) compared to data from the literature, and SCCs and sarcomas occurred significantly sooner than melanomas and BCCs.
  • Kindler syndrome: a rare case report from Greece. [Case Reports]
    Oxf Med Case Reports 2019; 2019(2):omz003Gkaitatzi M, Kalloniati E, … Georgiou S
  • Kindler syndrome is a rare autosomal recessive inherited disease characterized by infantile acral bullae, progressive poikiloderma, cutaneous atrophy, photosensitivity and various forms of mucosal involvement. In this paper, we report a case of a 49-year-old Greek Caucasian male aiming to emphasize the importance of genetic analysis as a gold standard of diagnosis.
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