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

181 related items for PubMed ID: 21868016

  • 21. Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales.
    Haralambos K, Whatley SD, Edwards R, Gingell R, Townsend D, Ashfield-Watt P, Lansberg P, Datta DB, McDowell IF.
    Atherosclerosis; 2015 May; 240(1):190-6. PubMed ID: 25797312
    [Abstract] [Full Text] [Related]

  • 22. Lipid phenotype and heritage pattern in families with genetic hypercholesterolemia not related to LDLR, APOB, PCSK9, or APOE.
    Jarauta E, Pérez-Ruiz MR, Pérez-Calahorra S, Mateo-Gallego R, Cenarro A, Cofán M, Ros E, Civeira F, Tejedor MT.
    J Clin Lipidol; 2016 May; 10(6):1397-1405.e2. PubMed ID: 27919357
    [Abstract] [Full Text] [Related]

  • 23. Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement.
    Fouchier SW, Hutten BA, Defesche JC.
    J Med Genet; 2015 Feb; 52(2):80-4. PubMed ID: 25412742
    [Abstract] [Full Text] [Related]

  • 24. LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.
    Yang KC, Su YN, Shew JY, Yang KY, Tseng WK, Wu CC, Lee YT.
    J Formos Med Assoc; 2007 Oct; 106(10):799-807. PubMed ID: 17964958
    [Abstract] [Full Text] [Related]

  • 25. Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
    Sánchez-Hernández RM, Civeira F, Stef M, Perez-Calahorra S, Almagro F, Plana N, Novoa FJ, Sáenz-Aranzubía P, Mosquera D, Soler C, Fuentes FJ, Brito-Casillas Y, Real JT, Blanco-Vaca F, Ascaso JF, Pocovi M.
    Circ Cardiovasc Genet; 2016 Dec; 9(6):504-510. PubMed ID: 27784735
    [Abstract] [Full Text] [Related]

  • 26. Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
    van der Graaf A, Avis HJ, Kusters DM, Vissers MN, Hutten BA, Defesche JC, Huijgen R, Fouchier SW, Wijburg FA, Kastelein JJ, Wiegman A.
    Circulation; 2011 Mar 22; 123(11):1167-73. PubMed ID: 21382890
    [Abstract] [Full Text] [Related]

  • 27. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
    Abifadel M, Varret M, Rabès JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derré A, Villéger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C.
    Nat Genet; 2003 Jun 22; 34(2):154-6. PubMed ID: 12730697
    [Abstract] [Full Text] [Related]

  • 28. [Familial hypercholesterolemia in Tunisia].
    Jelassi A, Jguirim I, Najah M, Maatouk F, Ben Hamda K, Slimane MN.
    Pathol Biol (Paris); 2009 Jul 22; 57(5):444-50. PubMed ID: 19041195
    [Abstract] [Full Text] [Related]

  • 29. 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 22; 30(7):E682-91. PubMed ID: 19319977
    [Abstract] [Full Text] [Related]

  • 30.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 31. Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia.
    Si-Tayeb K, Idriss S, Champon B, Caillaud A, Pichelin M, Arnaud L, Lemarchand P, Le May C, Zibara K, Cariou B.
    Dis Model Mech; 2016 Jan 22; 9(1):81-90. PubMed ID: 26586530
    [Abstract] [Full Text] [Related]

  • 32.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 33. 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 Jan 22; 10(6):1462-1469. PubMed ID: 27919364
    [Abstract] [Full Text] [Related]

  • 34. Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.
    Fouchier SW, Dallinga-Thie GM, Meijers JC, Zelcer N, Kastelein JJ, Defesche JC, Hovingh GK.
    Circ Res; 2014 Aug 29; 115(6):552-5. PubMed ID: 25035151
    [Abstract] [Full Text] [Related]

  • 35. Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.
    Saint-Jore B, Varret M, Dachet C, Rabès JP, Devillers M, Erlich D, Blanchard P, Krempf M, Mathé D, Chanu B, Jacotot B, Farnier M, Bonaïti-Péllié C, Junien C, Boileau C.
    Eur J Hum Genet; 2000 Aug 29; 8(8):621-30. PubMed ID: 10952765
    [Abstract] [Full Text] [Related]

  • 36. A novel mutation in proprotein convertase subtilisin/kexin type 9 gene leads to familial hypercholesterolemia in a Chinese family.
    Lin J, Wang LY, Liu S, Wang XM, Yong Q, Yang Y, DU LP, Pan XD, Wang X, Jiang ZS.
    Chin Med J (Engl); 2010 May 05; 123(9):1133-8. PubMed ID: 20529551
    [Abstract] [Full Text] [Related]

  • 37. New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.
    Elbitar S, Susan-Resiga D, Ghaleb Y, El Khoury P, Peloso G, Stitziel N, Rabès JP, Carreau V, Hamelin J, Ben-Djoudi-Ouadda A, Bruckert E, Boileau C, Seidah NG, Varret M, Abifadel M.
    Sci Rep; 2018 Jan 31; 8(1):1943. PubMed ID: 29386597
    [Abstract] [Full Text] [Related]

  • 38. Molecular spectrum of autosomal dominant hypercholesterolemia in France.
    Marduel M, Carrié A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C, French ADH Research Network, Boileau C, Varret M, Rabès JP.
    Hum Mutat; 2010 Nov 31; 31(11):E1811-24. PubMed ID: 20809525
    [Abstract] [Full Text] [Related]

  • 39. Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.
    Chater R, Aït Chihab K, Rabès JP, Varret M, Chabraoui L, El Jahiri Y, Adlouni A, Boileau C, Kettani A, El Messal M.
    Clin Chim Acta; 2006 Nov 31; 373(1-2):62-9. PubMed ID: 16806138
    [Abstract] [Full Text] [Related]

  • 40. The genetic spectrum of familial hypercholesterolemia in Pakistan.
    Ahmed W, Whittall R, Riaz M, Ajmal M, Sadeque A, Ayub H, Qamar R, Humphries SE.
    Clin Chim Acta; 2013 Jun 05; 421():219-25. PubMed ID: 23535506
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 10.