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Journal Abstract Search

178 related items for PubMed ID: 25618028

  • 1. Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature.
    Cefalù AB, Norata GD, Ghiglioni DG, Noto D, Uboldi P, Garlaschelli K, Baragetti A, Spina R, Valenti V, Pederiva C, Riva E, Terracciano L, Zoja A, Grigore L, Averna MR, Catapano AL.
    Atherosclerosis; 2015 Mar; 239(1):209-17. PubMed ID: 25618028
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  • 2. In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia.
    Rabacchi C, Simone ML, Pisciotta L, Di Leo E, Bocchi D, Pietrangelo A, D'Addato S, Bertolini S, Calandra S, Tarugi P.
    J Clin Lipidol; 2019 Mar; 13(6):960-969. PubMed ID: 31629702
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  • 3. Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.
    Di Filippo M, Moulin P, Roy P, Samson-Bouma ME, Collardeau-Frachon S, Chebel-Dumont S, Peretti N, Dumortier J, Zoulim F, Fontanges T, Parini R, Rigoldi M, Furlan F, Mancini G, Bonnefont-Rousselot D, Bruckert E, Schmitz J, Scoazec JY, Charrière S, Villar-Fimbel S, Gottrand F, Dubern B, Doummar D, Joly F, Liard-Meillon ME, Lachaux A, Sassolas A.
    J Hepatol; 2014 Oct; 61(4):891-902. PubMed ID: 24842304
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  • 6. Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia.
    Di Leo E, Magnolo L, Lancellotti S, Crocè L, Visintin L, Tiribelli C, Bertolini S, Calandra S, Tarugi P.
    J Med Genet; 2007 Mar; 44(3):219-24. PubMed ID: 17158591
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  • 9. Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.
    Magnolo L, Najah M, Fancello T, Di Leo E, Pinotti E, Brini I, Gueddiche NM, Calandra S, Slimene NM, Tarugi P.
    Gene; 2013 Jan 01; 512(1):28-34. PubMed ID: 23043934
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  • 11. Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.
    Di Leo E, Magnolo L, Pinotti E, Martini S, Cortella I, Vitturi N, Rabacchi C, Wunsch A, Pucci F, Bertolini S, Calandra S, Tarugi P.
    Mol Genet Metab; 2009 Feb 01; 96(2):66-72. PubMed ID: 19084451
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  • 13. Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia.
    Najah M, Di Leo E, Awatef J, Magnolo L, Imene J, Pinotti E, Bahri M, Barsaoui S, Brini I, Fekih M, Slimane MN, Tarugi P.
    Clin Chim Acta; 2009 Mar 01; 401(1-2):51-6. PubMed ID: 19056372
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  • 18. Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL.
    Yue P, Isley WL, Harris WS, Rosipal S, Akin CD, Schonfeld G.
    Atherosclerosis; 2005 Jan 01; 178(1):107-13. PubMed ID: 15585207
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  • 19. Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote.
    Hooper AJ, Robertson K, Champain D, Hua J, Song S, Parhofer KG, Barrett PHR, van Bockxmeer FM, Burnett JR.
    Clin Biochem; 2016 Jun 01; 49(9):720-722. PubMed ID: 26916057
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  • 20. Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia.
    Vongsuvanh R, Hooper AJ, Coakley JC, Macdessi JS, O'Loughlin EV, Burnett JR, Gaskin KJ.
    J Inherit Metab Dis; 2007 Nov 01; 30(6):990. PubMed ID: 18027103
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