127 related articles for article (PubMed ID: 36972942)
1. [Genetic analysis of a patient with familial hypercholesterolemia due to variant of LDLR gene].
Wang G; Liu L; Gao Y; Lyu M; Wu H; He X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Apr; 40(4):458-461. PubMed ID: 36972942
[TBL] [Abstract][Full Text] [Related]
2. Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.
Wong KHY; Levy-Sakin M; Ma W; Gonzaludo N; Mak ACY; Vaka D; Poon A; Chu C; Lao R; Balamir M; Grenville Z; Wong N; Kane JP; Kwok PY; Malloy MJ; Pullinger CR
Mol Genet Genomic Med; 2019 Dec; 7(12):e1007. PubMed ID: 31617323
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. [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]
5. 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]
6. A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemia.
Moffa S; Onori ME; De Paolis E; Ricciardi Tenore C; Perrucci A; Pontecorvi A; Giaccari A; Urbani A; Minucci A
Mol Biol Rep; 2022 Feb; 49(2):1623-1630. PubMed ID: 34846648
[TBL] [Abstract][Full Text] [Related]
7. The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia.
Hu H; Chen R; Hu Y; Wang J; Lin S; Chen X
Lipids Health Dis; 2021 Sep; 20(1):101. PubMed ID: 34511120
[TBL] [Abstract][Full Text] [Related]
8. A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia.
Reeskamp LF; Hartgers ML; Peter J; Dallinga-Thie GM; Zuurbier L; Defesche JC; Grefhorst A; Hovingh GK
Circ Genom Precis Med; 2018 Dec; 11(12):e002385. PubMed ID: 30562117
[TBL] [Abstract][Full Text] [Related]
9. Molecular genetics of familial hypercholesterolemia in Israel-revisited.
Durst R; Ibe UK; Shpitzen S; Schurr D; Eliav O; Futema M; Whittall R; Szalat A; Meiner V; Knobler H; Gavish D; Henkin Y; Ellis A; Rubinstein A; Harats D; Bitzur R; Hershkovitz B; Humphries SE; Leitersdorf E
Atherosclerosis; 2017 Feb; 257():55-63. PubMed ID: 28104544
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. [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]
12. Independent Severe Cases of Heterozygous Familial Hypercholesterolemia Caused by the W483X and Novel W483G Mutations in the Low-Density Lipoprotein Receptor Gene That Were Clinically Diagnosed as Homozygous Cases.
Cheng S; Wu Y; Wen W; An M; Gao Y; Wang L; Han X; Shang H
Genet Test Mol Biomarkers; 2019 Jun; 23(6):401-408. PubMed ID: 31161821
[No Abstract] [Full Text] [Related]
13. 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]
14. 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
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. In vitro assessment of the pathogenicity of the LDLR c.2160delC variant in familial hypercholesterolemia.
Lin S; Hu T; Wang K; Wang J; Zhu Y; Chen X
Lipids Health Dis; 2023 Jun; 22(1):77. PubMed ID: 37340302
[TBL] [Abstract][Full Text] [Related]
17. Detection of the benign c.2579C>T (p.A860V) variant of the LDLR gene in a pedigree-based genetic analysis of familial hypercholesterolemia.
Hori M; Miyauchi E; Son C; Harada-Shiba M
J Clin Lipidol; 2019; 13(2):335-339. PubMed ID: 30745271
[TBL] [Abstract][Full Text] [Related]
18. ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia.
Reeskamp LF; Volta A; Zuurbier L; Defesche JC; Hovingh GK; Grefhorst A
J Clin Lipidol; 2020; 14(2):207-217.e7. PubMed ID: 32088153
[TBL] [Abstract][Full Text] [Related]
19. The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia.
Hori M; Takahashi A; Son C; Ogura M; Harada-Shiba M
Lipids Health Dis; 2020 Apr; 19(1):62. PubMed ID: 32252761
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
