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Journal Abstract Search

139 related items for PubMed ID: 18492086

  • 1. Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations.
    Di Leo E, Magnolo L, Bertolotti M, Bourbon M, Carmo Pereira S, Pirisi M, Calandra S, Tarugi P.
    Clin Genet; 2008 Sep; 74(3):267-73. PubMed ID: 18492086
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  • 2. 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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  • 3. Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene.
    Tarugi P, Lonardo A, Gabelli C, Sala F, Ballarini G, Cortella I, Previato L, Bertolini S, Cordera R, Calandra S.
    J Lipid Res; 2001 Oct; 42(10):1552-61. PubMed ID: 11590210
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  • 5. Molecular diagnosis of hypobetalipoproteinemia: an ENID review.
    Tarugi P, Averna M, Di Leo E, Cefalù AB, Noto D, Magnolo L, Cattin L, Bertolini S, Calandra S.
    Atherosclerosis; 2007 Dec; 195(2):e19-27. PubMed ID: 17570373
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  • 6. Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia.
    Whitfield AJ, Marais AD, Robertson K, Barrett PH, van Bockxmeer FM, Burnett JR.
    Hum Mutat; 2003 Aug; 22(2):178. PubMed ID: 12872264
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  • 11. Non-alcoholic steatohepatitis-related cirrhosis in a patient with APOB L343V familial hypobetalipoproteinaemia.
    Heeks LV, Hooper AJ, Adams LA, Robbins P, Barrett PH, van Bockxmeer FM, Burnett JR.
    Clin Chim Acta; 2013 Jun 05; 421():121-5. PubMed ID: 23694813
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  • 12. 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 05; 96(2):66-72. PubMed ID: 19084451
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  • 14. 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 05; 30(6):990. PubMed ID: 18027103
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  • 16. 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 05; 178(1):107-13. PubMed ID: 15585207
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  • 17. High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent.
    Fouchier SW, Sankatsing RR, Peter J, Castillo S, Pocovi M, Alonso R, Kastelein JJ, Defesche JC.
    J Med Genet; 2005 Apr 05; 42(4):e23. PubMed ID: 15805152
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  • 18. Cryptogenic cirrhosis in a patient with familial hypocholesterolemia due to a new truncated form of apolipoprotein B.
    Bonnefont-Rousselot D, Condat B, Sassolas A, Chebel S, Bittar R, Federspiel MC, Cazals-Hatem D, Bruckert E.
    Eur J Gastroenterol Hepatol; 2009 Jan 05; 21(1):104-8. PubMed ID: 19060634
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  • 19. [Homozygous familial hypobetalipoproteinemia caused by APOB gene variations: a case report and review of literature].
    Zhang YQ, Wang JS.
    Zhonghua Er Ke Za Zhi; 2023 Jan 02; 61(1):70-75. PubMed ID: 36594125
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  • 20. [Familial hypobetalipoproteinemia: clinical characterization of a new mutation in the APOB gene].
    Iglesias P, Díez JJ, Tarugi P.
    Med Clin (Barc); 2009 Jun 13; 133(2):57-60. PubMed ID: 19442995
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