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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

571 related items for PubMed ID: 23375686

  • 1. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
    Bertolini S, Pisciotta L, Rabacchi C, Cefalù AB, Noto D, Fasano T, Signori A, Fresa R, Averna M, Calandra S.
    Atherosclerosis; 2013 Apr; 227(2):342-8. PubMed ID: 23375686
    [Abstract] [Full Text] [Related]

  • 2. Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.
    Slimani A, Jelassi A, Jguirim I, Najah M, Rebhi L, Omezzine A, Maatouk F, Hamda KB, Kacem M, Rabès JP, Abifadel M, Boileau C, Rouis M, Slimane MN, Varret M.
    Atherosclerosis; 2012 May; 222(1):158-66. PubMed ID: 22417841
    [Abstract] [Full Text] [Related]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.
    Huijgen R, Sjouke B, Vis K, de Randamie JS, Defesche JC, Kastelein JJ, Hovingh GK, Fouchier SW.
    Hum Mutat; 2012 Feb; 33(2):448-55. PubMed ID: 22095935
    [Abstract] [Full Text] [Related]

  • 6. Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.
    Mabuchi H, Nohara A, Noguchi T, Kobayashi J, Kawashiri MA, Inoue T, Mori M, Tada H, Nakanishi C, Yagi K, Yamagishi M, Ueda K, Takegoshi T, Miyamoto S, Inazu A, Koizumi J, Hokuriku FH Study Group.
    Atherosclerosis; 2014 Sep; 236(1):54-61. PubMed ID: 25014035
    [Abstract] [Full Text] [Related]

  • 7. Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
    Garcia-Garcia AB, Ivorra C, Martinez-Hervas S, Blesa S, Fuentes MJ, Puig O, Martín-de-Llano JJ, Carmena R, Real JT, Chaves FJ.
    Atherosclerosis; 2011 Oct; 218(2):423-30. PubMed ID: 21868016
    [Abstract] [Full Text] [Related]

  • 8. A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.
    Tada H, Kawashiri MA, Ohtani R, Noguchi T, Nakanishi C, Konno T, Hayashi K, Nohara A, Inazu A, Kobayashi J, Mabuchi H, Yamagishi M.
    Atherosclerosis; 2011 Dec; 219(2):663-6. PubMed ID: 21872251
    [Abstract] [Full Text] [Related]

  • 9. The contribution of PCSK9 levels to the phenotypic severity of familial hypercholesterolemia is independent of LDL receptor genotype.
    Drouin-Chartier JP, Tremblay AJ, Hogue JC, Ooi TC, Lamarche B, Couture P.
    Metabolism; 2015 Nov; 64(11):1541-7. PubMed ID: 26371983
    [Abstract] [Full Text] [Related]

  • 10. Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease.
    Sjouke B, Defesche JC, Hartgers ML, Wiegman A, Roeters van Lennep JE, Kastelein JJ, Hovingh GK.
    J Clin Lipidol; 2016 Nov; 10(6):1462-1469. PubMed ID: 27919364
    [Abstract] [Full Text] [Related]

  • 11. The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
    Abifadel M, Rabès JP, Jambart S, Halaby G, Gannagé-Yared MH, Sarkis A, Beaino G, Varret M, Salem N, Corbani S, Aydénian H, Junien C, Munnich A, Boileau C.
    Hum Mutat; 2009 Jul; 30(7):E682-91. PubMed ID: 19319977
    [Abstract] [Full Text] [Related]

  • 12. APOE p.Leu167del mutation in familial hypercholesterolemia.
    Awan Z, Choi HY, Stitziel N, Ruel I, Bamimore MA, Husa R, Gagnon MH, Wang RH, Peloso GM, Hegele RA, Seidah NG, Kathiresan S, Genest J.
    Atherosclerosis; 2013 Dec; 231(2):218-22. PubMed ID: 24267230
    [Abstract] [Full Text] [Related]

  • 13. Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
    Humphries SE, Whittall RA, Hubbart CS, Maplebeck S, Cooper JA, Soutar AK, Naoumova R, Thompson GR, Seed M, Durrington PN, Miller JP, Betteridge DJ, Neil HA, Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee.
    J Med Genet; 2006 Dec; 43(12):943-9. PubMed ID: 17142622
    [Abstract] [Full Text] [Related]

  • 14. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome.
    Sjouke B, Kusters DM, Kindt I, Besseling J, Defesche JC, Sijbrands EJ, Roeters van Lennep JE, Stalenhoef AF, Wiegman A, de Graaf J, Fouchier SW, Kastelein JJ, Hovingh GK.
    Eur Heart J; 2015 Mar 01; 36(9):560-5. PubMed ID: 24585268
    [Abstract] [Full Text] [Related]

  • 15. Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease.
    Al-Allaf FA, Athar M, Abduljaleel Z, Taher MM, Khan W, Ba-Hammam FA, Abalkhail H, Alashwal A.
    Gene; 2015 Jul 01; 565(1):76-84. PubMed ID: 25839937
    [Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.
    Rabacchi C, Bigazzi F, Puntoni M, Sbrana F, Sampietro T, Tarugi P, Bertolini S, Calandra S.
    J Clin Lipidol; 2016 Jul 01; 10(4):944-952.e1. PubMed ID: 27578127
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. Molecular characterization of familial hypercholesterolemia in Spain.
    Palacios L, Grandoso L, Cuevas N, Olano-Martín E, Martinez A, Tejedor D, Stef M.
    Atherosclerosis; 2012 Mar 01; 221(1):137-42. PubMed ID: 22244043
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 29.