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Journal Abstract Search

310 related items for PubMed ID: 12872264

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.
    Yue P, Yuan B, Gerhard DS, Neuman RJ, Isley WL, Harris WS, Schonfeld G.
    Hum Mutat; 2002 Aug; 20(2):110-6. PubMed ID: 12124991
    [Abstract] [Full Text] [Related]

  • 3. Donor splice mutation (665 + 1 G_T) in familial hypobetalipoproteinemia with no detectable apoB truncation.
    Pulai JI, Zakeri H, Kwok PY, Kim JH, Wu J, Schonfeld G.
    Am J Med Genet; 1998 Nov 16; 80(3):218-20. PubMed ID: 9843041
    [Abstract] [Full Text] [Related]

  • 4. Pediatric gallstone disease in familial hypobetalipoproteinemia.
    Lancellotti S, Zaffanello M, Di Leo E, Costa L, Lonardo A, Tarugi P.
    J Hepatol; 2005 Jul 16; 43(1):188-91. PubMed ID: 15894400
    [Abstract] [Full Text] [Related]

  • 5. Absence of fatty liver in familial hypobetalipoproteinemia linked to chromosome 3p21.
    Yue P, Tanoli T, Wilhelm O, Patterson B, Yablonskiy D, Schonfeld G.
    Metabolism; 2005 May 16; 54(5):682-8. PubMed ID: 15877300
    [Abstract] [Full Text] [Related]

  • 6. 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 16; 178(1):107-13. PubMed ID: 15585207
    [Abstract] [Full Text] [Related]

  • 7. Apolipoprotein B gene mutations and fatty liver in Japanese hypobetalipoproteinemia.
    Katsuda S, Kawashiri MA, Inazu A, Tada H, Tsuchida M, Kaneko Y, Nozue T, Nohara A, Okada T, Kobayashi J, Michishita I, Mabuchi H, Yamagishi M.
    Clin Chim Acta; 2009 Jan 16; 399(1-2):64-8. PubMed ID: 18848826
    [Abstract] [Full Text] [Related]

  • 8. Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia.
    Elias N, Patterson BW, Schonfeld G.
    Arterioscler Thromb Vasc Biol; 1999 Nov 16; 19(11):2714-21. PubMed ID: 10559016
    [Abstract] [Full Text] [Related]

  • 9. Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation.
    Martín-Campos JM, Roig R, Mayoral C, Martinez S, Martí G, Arroyo JA, Julve J, Blanco-Vaca F.
    Clin Chim Acta; 2012 Mar 22; 413(5-6):552-5. PubMed ID: 22155345
    [Abstract] [Full Text] [Related]

  • 10. Lipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia.
    Hooper AJ, Heeks L, Robertson K, Champain D, Hua J, Song S, Parhofer KG, Barrett PH, van Bockxmeer FM, Burnett JR.
    J Clin Endocrinol Metab; 2015 Nov 22; 100(11):E1484-90. PubMed ID: 26323024
    [Abstract] [Full Text] [Related]

  • 11. [Familial hypobetalipoproteinemia: Report of a family and review of Spanish contributions].
    Diego Núñez MA, Cortijo González C.
    An Esp Pediatr; 2002 Jan 22; 56(1):64-7. PubMed ID: 11792248
    [Abstract] [Full Text] [Related]

  • 12. Genetic variation of apolipoprotein B can produce both low and high levels of apoB-containing lipoproteins in plasma.
    Schonfeld G.
    Can J Cardiol; 1995 Oct 22; 11 Suppl G():86G-92G. PubMed ID: 7585299
    [Abstract] [Full Text] [Related]

  • 13. Homozygous familial hypobetalipoproteinemia. Increased LDL catabolism in hypobetalipoproteinemia due to a truncated apolipoprotein B species, apo B-87Padova.
    Gabelli C, Bilato C, Martini S, Tennyson GE, Zech LA, Corsini A, Albanese M, Brewer HB, Crepaldi G, Baggio G.
    Arterioscler Thromb Vasc Biol; 1996 Sep 22; 16(9):1189-96. PubMed ID: 8792774
    [Abstract] [Full Text] [Related]

  • 14. 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 22; 239(1):209-17. PubMed ID: 25618028
    [Abstract] [Full Text] [Related]

  • 15. Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.
    Noto D, Cefalù AB, Valenti V, Fayer F, Pinotti E, Ditta M, Spina R, Vigna G, Yue P, Kathiresan S, Tarugi P, Averna MR.
    Arterioscler Thromb Vasc Biol; 2012 Mar 22; 32(3):805-9. PubMed ID: 22247256
    [Abstract] [Full Text] [Related]

  • 16. 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 22; 21(1):104-8. PubMed ID: 19060634
    [Abstract] [Full Text] [Related]

  • 17. Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.
    Rimbert A, Pichelin M, Lecointe S, Marrec M, Le Scouarnec S, Barrak E, Croyal M, Krempf M, Le Marec H, Redon R, Schott JJ, Magré J, Cariou B.
    Atherosclerosis; 2016 Jul 22; 250():52-6. PubMed ID: 27179706
    [Abstract] [Full Text] [Related]

  • 18. 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 22; 74(3):267-73. PubMed ID: 18492086
    [Abstract] [Full Text] [Related]

  • 19. Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum.
    Tarugi P, Averna M.
    Adv Clin Chem; 2011 Sep 22; 54():81-107. PubMed ID: 21874758
    [Abstract] [Full Text] [Related]

  • 20. 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 22; 49(9):720-722. PubMed ID: 26916057
    [Abstract] [Full Text] [Related]

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