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Journal Abstract Search

241 related items for PubMed ID: 21722902

  • 21. 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]

  • 22. The effect of LDLR-negative genotype on CT coronary atherosclerosis in asymptomatic statin treated patients with heterozygous familial hypercholesterolemia.
    Ten Kate GJ, Neefjes LA, Dedic A, Nieman K, Langendonk JG, Galema-Boers AJ, Roeters van Lennep J, Moelker A, Krestin GP, Sijbrands EJ, de Feyter PJ.
    Atherosclerosis; 2013 Apr; 227(2):334-41. PubMed ID: 23369702
    [Abstract] [Full Text] [Related]

  • 23. 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; 373(1-2):62-9. PubMed ID: 16806138
    [Abstract] [Full Text] [Related]

  • 24. Portuguese Familial Hypercholesterolemia Study: presentation of the study and preliminary results.
    Bourbon M, Rato Q, Investigadores do Estudo Português de Hipercolesterolemia Familiar.
    Rev Port Cardiol; 2006 Nov; 25(11):999-1013. PubMed ID: 17274457
    [Abstract] [Full Text] [Related]

  • 25. FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations.
    Dedoussis GV, Skoumas J, Pitsavos C, Choumerianou DM, Genschel J, Schmidt H, Stefanadis C.
    Eur J Clin Invest; 2004 Jun; 34(6):402-9. PubMed ID: 15200491
    [Abstract] [Full Text] [Related]

  • 26. An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
    Dušková L, Kopečková L, Jansová E, Tichý L, Freiberger T, Zapletalová P, Soška V, Ravčuková B, Fajkusová L.
    Atherosclerosis; 2011 May; 216(1):139-45. PubMed ID: 21310417
    [Abstract] [Full Text] [Related]

  • 27. [Identification of a novel splice mutation of low density lipoprotein receptor gene in a Chinese family with familial hypercholesterolemia].
    Lin J, Wang LY, Liu S, Pan XD, Du LP, Shi FR, Qin YW, Zhao Q, Guo HY.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb; 21(1):14-8. PubMed ID: 14767901
    [Abstract] [Full Text] [Related]

  • 28. Mutational analysis of the LDLR gene in a cohort of Colombian families with familial hypercholesterolemia.
    López G, Bernal LM, Gelvez N, Gómez LF, Nova A, Sánchez AI, Tamayo ML.
    Atherosclerosis; 2018 Oct; 277():434-439. PubMed ID: 30270082
    [Abstract] [Full Text] [Related]

  • 29. Low-density lipoprotein receptor gene mutation analysis and structure-function correlation in an Omani arab family with familial hypercholesterolemia.
    Al-Rasadi K, Al-Waili K, Al-Zidi WA, Al-Abri AR, Al-Hinai AT, Al-Sabti HA, Al-Tobi S, Al-Zakwani I, Al-Zadjali F, Al-Hashmi K, Banerjee Y.
    Angiology; 2014 Nov; 65(10):911-8. PubMed ID: 24249837
    [Abstract] [Full Text] [Related]

  • 30. Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.
    Mollaki V, Progias P, Drogari E.
    Atherosclerosis; 2014 Dec; 237(2):798-804. PubMed ID: 25463123
    [Abstract] [Full Text] [Related]

  • 31. Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.
    Allard D, Amsellem S, Abifadel M, Trillard M, Devillers M, Luc G, Krempf M, Reznik Y, Girardet JP, Fredenrich A, Junien C, Varret M, Boileau C, Benlian P, Rabès JP.
    Hum Mutat; 2005 Nov; 26(5):497. PubMed ID: 16211558
    [Abstract] [Full Text] [Related]

  • 32. 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]

  • 33. 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]

  • 34. 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]

  • 35. Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.
    Real JT, Chaves FJ, Ejarque I, García-García AB, Valldecabres C, Ascaso JF, Armengod ME, Carmena R.
    Eur J Hum Genet; 2003 Dec; 11(12):959-65. PubMed ID: 14508510
    [Abstract] [Full Text] [Related]

  • 36. 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 Dec; 10(4):944-952.e1. PubMed ID: 27578127
    [Abstract] [Full Text] [Related]

  • 37. 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 Dec; 10(6):1397-1405.e2. PubMed ID: 27919357
    [Abstract] [Full Text] [Related]

  • 38. 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; 221(1):137-42. PubMed ID: 22244043
    [Abstract] [Full Text] [Related]

  • 39. 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(11):E1811-24. PubMed ID: 20809525
    [Abstract] [Full Text] [Related]

  • 40. Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan.
    Mabuchi H, Nohara A, Noguchi T, Kobayashi J, Kawashiri MA, Tada H, Nakanishi C, Mori M, Yamagishi M, Inazu A, Koizumi J, Hokuriku FH Study Group.
    Atherosclerosis; 2011 Feb; 214(2):404-7. PubMed ID: 21146822
    [Abstract] [Full Text] [Related]

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