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268 results
  • Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa. [Journal Article]
    Doc Ophthalmol 2019Lin Y, Xu CL, … Tsang SH
  • CONCLUSIONS: This report is not only the first description of a Cameroonian patient with arRP associated with a REEP6 mutation, but also this particular genetic alteration. Substitution of p.Glu99Lys in REEP6 likely disrupts the interactions between REEP6 and the ER membrane. NIR-AF imaging may be particularly useful for assessing functional photoreceptor cells and show an "avocado" pattern of hyperautofluorescence in patients with the REEP6 mutation.
  • Comparison of Early and Late Post-operative Outcomes after Supra-inguinal Bypass for Aortoiliac Occlusive Disease. [Journal Article]
    Eur J Vasc Endovasc Surg 2019; 58(4):529-537Saadeddin ZM, Rybin DV, … Eslami MH
  • CONCLUSIONS: After adjusting for confounding variables, and while acknowledging limitations related to the VSGNE data set, FFB led to significantly lower rates of post-operative complications than AXB. FFB may serve as the extra-anatomical operation of choice in high risk patients with extensive disease, who cannot undergo AFB, provided that anatomy permits. AFB should be performed preferentially in low risk patients with appropriate anatomy. Owing to its higher complications rates, the study suggests that AXB should be limited to patients with no other option for revascularisation.
  • CRB2 Loss in Rod Photoreceptors Is Associated with Progressive Loss of Retinal Contrast Sensitivity. [Journal Article]
    Int J Mol Sci 2019; 20(17)Alves CH, Boon N, … Wijnholds J
  • Variations in the Crumbs homolog-1 (CRB1) gene are associated with a wide variety of autosomal recessive retinal dystrophies, including early onset retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA). CRB1 belongs to the Crumbs family, which in mammals includes CRB2 and CRB3. Here, we studied the specific roles of CRB2 in rod photoreceptor cells and whether ablation of CRB2 in rods exa…
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