These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

137 related articles for article (PubMed ID: 8956048)

  • 1. Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia.
    Wiebusch H; Funke H; Bruin T; Bucher H; von Eckardstein A; Kastelein JJ; Assmann G
    Hum Mutat; 1996; 8(4):381-3. PubMed ID: 8956048
    [No Abstract]   [Full Text] [Related]  

  • 2. Acquired lipoprotein lipase deficiency associated with chronic urticaria. A new etiology for type I hyperlipoproteinemia.
    García-Otín AL; Civeira F; Peinado-Onsurbe J; Gonzalvo C; Llobera M; Pocoví M
    Eur J Endocrinol; 1999 Nov; 141(5):502-5. PubMed ID: 10576767
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.
    Wiebusch H; Funke H; Santer R; Richter W; Assmann G
    Hum Mutat; 1996; 8(4):392. PubMed ID: 8956052
    [No Abstract]   [Full Text] [Related]  

  • 4. A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry.
    Foubert L; Bruin T; De Gennes JL; Ehrenborg E; Furioli J; Kastelein J; Benlian P; Hayden M
    Hum Mutat; 1997; 10(3):179-85. PubMed ID: 9298816
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes.
    Reina M; Brunzell JD; Deeb SS
    J Lipid Res; 1992 Dec; 33(12):1823-32. PubMed ID: 1479292
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study.
    Kavazarakis E; Stabouli S; Gourgiotis D; Roumeliotou K; Traeger-Synodinos J; Bossios A; Fretzayas A; Kanavakis E
    Eur J Pediatr; 2004 Aug; 163(8):462-6. PubMed ID: 15185149
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.
    Benlian P; De Gennes JL; Foubert L; Zhang H; Gagné SE; Hayden M
    N Engl J Med; 1996 Sep; 335(12):848-54. PubMed ID: 8778602
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia.
    Previato L; Guardamagna O; Dugi KA; Ronan R; Talley GD; Santamarina-Fojo S; Brewer HB
    J Lipid Res; 1994 Sep; 35(9):1552-60. PubMed ID: 7806969
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Higher triglycerides, lower high-density lipoprotein cholesterol, and higher systolic blood pressure in lipoprotein lipase-deficient heterozygotes. A preliminary report.
    Sprecher DL; Harris BV; Stein EA; Bellet PS; Keilson LM; Simbartl LA
    Circulation; 1996 Dec; 94(12):3239-45. PubMed ID: 8989135
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Detection of a new compound heterozygote (del G916/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients.
    Okubo M; Inoue S; Horinishi A; Ogihara T; Kaneko K; Gotoda T; Yamada N; Murase T
    Atherosclerosis; 1999 Jun; 144(2):443-7. PubMed ID: 10407506
    [No Abstract]   [Full Text] [Related]  

  • 11. Pathogenesis of type I hyperlipoproteinemia.
    Gnasso A; Koch H; Haberbosch W; Fellin R; Postiglione A; Augustin J
    Monogr Atheroscler; 1986; 14():135-9. PubMed ID: 3736552
    [No Abstract]   [Full Text] [Related]  

  • 12. Successful pregnancy outcome in a patient with severe chylomicronemia due to compound heterozygosity for mutant lipoprotein lipase.
    Al-Shali K; Wang J; Fellows F; Huff MW; Wolfe BM; Hegele RA
    Clin Biochem; 2002 Mar; 35(2):125-30. PubMed ID: 11983347
    [TBL] [Abstract][Full Text] [Related]  

  • 13. GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.
    Charrière S; Peretti N; Bernard S; Di Filippo M; Sassolas A; Merlin M; Delay M; Debard C; Lefai E; Lachaux A; Moulin P; Marçais C
    J Clin Endocrinol Metab; 2011 Oct; 96(10):E1675-9. PubMed ID: 21816778
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.
    Henderson HE; Bijvoet SM; Mannens MA; Bruin T; Erkelens DW; Hayden MR; Kastelein JJ
    Am J Med Genet; 1998 Jul; 78(4):313-6. PubMed ID: 9714430
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Evaluation of the chylomicron-TG to VLDL-TG ratio for type I hyperlipoproteinemia diagnostic.
    Rioja J; Ariza MJ; García-Casares N; Coca-Prieto I; Arrobas T; Muñiz-Grijalvo O; Mangas A; Ibarretxe D; Sánchez-Chaparro MÁ; Valdivielso P
    Eur J Clin Invest; 2020 Dec; 50(12):e13345. PubMed ID: 32649781
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The molecular basis of familial chylomicronemia.
    Ameis D; Schotz C; Greten H
    Z Gastroenterol Verh; 1991 Mar; 26():102-3. PubMed ID: 1714114
    [No Abstract]   [Full Text] [Related]  

  • 17. [Chylomicronemia].
    Yamamoto T; Kawakami M
    Nihon Rinsho; 1990 Nov; 48(11):2526-31. PubMed ID: 2270016
    [No Abstract]   [Full Text] [Related]  

  • 18. A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.
    Ishimura-Oka K; Faustinella F; Kihara S; Smith LC; Oka K; Chan L
    Am J Hum Genet; 1992 Jun; 50(6):1275-80. PubMed ID: 1598907
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome.
    Paquette M; Hegele RA; Paré G; Baass A
    J Clin Lipidol; 2018; 12(2):506-510. PubMed ID: 29452893
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular and functional characterization of familial chylomicronemia syndrome.
    Teramoto R; Tada H; Kawashiri MA; Nohara A; Nakahashi T; Konno T; Inazu A; Mabuchi H; Yamagishi M; Hayashi K
    Atherosclerosis; 2018 Feb; 269():272-278. PubMed ID: 29153744
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.