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 *

242 related articles for article (PubMed ID: 26721317)

  • 1. A de novo mutation of the LDL receptor gene as the cause of familial hypercholesterolemia identified using whole exome sequencing.
    Tada H; Hosomichi K; Okada H; Kawashiri MA; Nohara A; Inazu A; Tomizawa S; Tajima A; Mabuchi H; Hayashi K
    Clin Chim Acta; 2016 Jan; 453():194-6. PubMed ID: 26721317
    [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. [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]  

  • 4. Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia.
    Brænne I; Reiz B; Medack A; Kleinecke M; Fischer M; Tuna S; Hengstenberg C; Deloukas P; Erdmann J; Schunkert H;
    BMC Cardiovasc Disord; 2014 Aug; 14():108. PubMed ID: 25154303
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing.
    Sun LY; Zhang YB; Jiang L; Wan N; Wu WF; Pan XD; Yu J; Zhang F; Wang LY
    Sci Rep; 2015 Jun; 5():11380. PubMed ID: 26077743
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK
    Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Genotype-phenotype analysis of a homozygous familial hypercholesterolemia pedigree].
    Wang DY; Zhang YM; Che FY; Chu JP; Zhang LY; Li H; Liu BL; Yao ZY; Zhao YW
    Zhonghua Er Ke Za Zhi; 2020 Feb; 58(2):101-106. PubMed ID: 32102145
    [No 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation.
    Ma Y; Gong Y; Garg A; Zhou H
    J Clin Lipidol; 2018; 12(1):230-235.e6. PubMed ID: 29233637
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia.
    Ajmal M; Ahmed W; Sadeque A; Ali SH; Bokhari SH; Ahmed N; Qamar R
    Mol Biol Rep; 2010 Dec; 37(8):3869-75. PubMed ID: 20217239
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia.
    Alnouri F; Athar M; Al-Allaf FA; Abduljaleel Z; Taher MM; Bouazzaoui A; Al Ammari D; Karrar H; Albabtain M
    Atherosclerosis; 2018 Oct; 277():425-433. PubMed ID: 30270081
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia.
    Soufi M; Rust S; Walter M; Schaefer JR
    Gene; 2013 May; 521(1):200-3. PubMed ID: 23510778
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Heterozygous familial hypercholesterolaemia in a pair of identical twins: a case report and updated review.
    Mohd Nor NS; Al-Khateeb AM; Chua YA; Mohd Kasim NA; Mohd Nawawi H
    BMC Pediatr; 2019 Apr; 19(1):106. PubMed ID: 30975109
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Relationship between changes in activities of low density lipoprotein receptor and gene mutation in familial hypercholesterolemia].
    Pang Q; Li M; Hu W; Chen Q; Li X; Fan L
    Zhonghua Nei Ke Za Zhi; 2002 Oct; 41(10):667-70. PubMed ID: 12485531
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel LDLR mutation, H190Y, in a Utah kindred with familial hypercholesterolemia.
    Hopkins PN; Wu LL; Stephenson SH; Xin Y; Katsumata H; Nobe Y; Nakajima T; Hirayama T; Emi M; Williams RR
    J Hum Genet; 1999; 44(6):364-7. PubMed ID: 10570905
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 565(1):76-84. PubMed ID: 25839937
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia.
    Santos PC; Morgan AC; Jannes CE; Turolla L; Krieger JE; Santos RD; Pereira AC
    Atherosclerosis; 2014 Mar; 233(1):206-10. PubMed ID: 24529145
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.