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 *

112 related articles for article (PubMed ID: 30512145)

  • 1. [Screening of LDLR gene mutations in nine patients with familial hypercholesterolemia].
    Meng X; Si N; Shen Y; Wang Q; He J; Lu C; Wu W; Zhang S; Zhang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec; 35(6):783-786. PubMed ID: 30512145
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.
    Wang D; Wu B; Li Y; Heng W; Zhong H; Mu Y; Wang J
    J Hum Genet; 2001; 46(3):152-4. PubMed ID: 11310584
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].
    Liu YR; Tao QM; Chen JZ; Tao M; Guo XG; Shang YP; Zhu JH; Zhang FR; Zheng LR; Wang XX
    Sheng Li Xue Bao; 2004 Oct; 56(5):566-72. PubMed ID: 15497035
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.
    Grenkowitz T; Kassner U; Wühle-Demuth M; Salewsky B; Rosada A; Zemojtel T; Hopfenmüller W; Isermann B; Borucki K; Heigl F; Laufs U; Wagner S; Kleber ME; Binner P; März W; Steinhagen-Thiessen E; Demuth I
    Atherosclerosis; 2016 Oct; 253():88-93. PubMed ID: 27596133
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene.
    Jiang L; Benito-Vicente A; Tang L; Etxebarria A; Cui W; Uribe KB; Pan XD; Ostolaza H; Yang SW; Zhou YJ; Martin C; Wang LY
    Atherosclerosis; 2017 Aug; 263():163-170. PubMed ID: 28645073
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.
    Al-Allaf FA; Alashwal A; Abduljaleel Z; Taher MM; Bouazzaoui A; Abalkhail H; Al-Allaf AF; Athar M
    Acta Biochim Pol; 2017; 64(1):75-79. PubMed ID: 27878139
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
    Wang J; Huff E; Janecka L; Hegele RA
    Hum Mutat; 2001 Oct; 18(4):359. PubMed ID: 11668627
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.
    Diakou M; Miltiadous G; Xenophontos SL; Manoli P; Cariolou MA; Elisaf M
    Eur J Intern Med; 2011 Oct; 22(5):e55-9. PubMed ID: 21925044
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
    Mozas P; Castillo S; Tejedor D; Reyes G; Alonso R; Franco M; Saenz P; Fuentes F; Almagro F; Mata P; Pocoví M
    Hum Mutat; 2004 Aug; 24(2):187. PubMed ID: 15241806
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil.
    Molfetta GA; Zanette DL; Santos JE; Silva WA
    Genet Mol Res; 2017 Aug; 16(3):. PubMed ID: 28873201
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 10(4):944-952.e1. PubMed ID: 27578127
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic analysis in a compound heterozygote family with familial hypercholesterolemia.
    Wang F; Fan Q; Tao R; Gu G; Zhang R; Xi R
    Mol Med Rep; 2018 Jun; 17(6):8439-8449. PubMed ID: 29693183
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
    Pirillo A; Garlaschelli K; Arca M; Averna M; Bertolini S; Calandra S; Tarugi P; Catapano AL;
    Atheroscler Suppl; 2017 Oct; 29():17-24. PubMed ID: 28965616
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular characterization of familial hypercholesterolemia in German and Greek patients.
    Dedoussis GV; Genschel J; Bochow B; Pitsavos C; Skoumas J; Prassa M; Lkhagvasuren S; Toutouzas P; Vogt A; Kassner U; Thomas HP; Schmidt H
    Hum Mutat; 2004 Mar; 23(3):285-6. PubMed ID: 14974088
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
    Pek SLT; Dissanayake S; Fong JCW; Lin MX; Chan EZL; Tang JI; Lee CW; Ong HY; Sum CF; Lim SC; Tavintharan S
    Atherosclerosis; 2018 Feb; 269():106-116. PubMed ID: 29353225
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.
    Paththinige CS; Rajapakse JRDK; Constantine GR; Sem KP; Singaraja RR; Jayasekara RW; Dissanayake VHW
    Lipids Health Dis; 2018 May; 17(1):100. PubMed ID: 29720182
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Screening for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia Chinese].
    Pang QF; Wang Y; Xu M; Ding L; Dong W; Mao PJ
    Zhonghua Nei Ke Za Zhi; 2004 Sep; 43(9):665-8. PubMed ID: 15500778
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their families.
    Mollaki V; Progias P; Drogari E
    Ann Hum Genet; 2013 Sep; 77(5):426-34. PubMed ID: 23815734
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.