347 related articles for article (PubMed ID: 9409302)
41. Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.
Bertolini S; Cantafora A; Averna M; Cortese C; Motti C; Martini S; Pes G; Postiglione A; Stefanutti C; Blotta I; Pisciotta L; Rolleri M; Langheim S; Ghisellini M; Rabbone I; Calandra S
Arterioscler Thromb Vasc Biol; 2000 Sep; 20(9):E41-52. PubMed ID: 10978268
[TBL] [Abstract][Full Text] [Related]
42. 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]
43. A molecular and clinical study of heterozygous familial hyplercholesterolemia in the Finnish North Karelia.
Vuorio A
Scand Cardiovasc J; 1999; 33(4):252-3. PubMed ID: 10517216
[No Abstract] [Full Text] [Related]
44. Cascade screening and genetic diagnosis of familial hypercholesterolemia in clusters of the Southeastern region from Brazil.
de Paiva Silvino JP; Jannes CE; Tada MT; Lima IR; Silva IFO; Pereira AC; Gomes KB
Mol Biol Rep; 2020 Dec; 47(12):9279-9288. PubMed ID: 33231818
[TBL] [Abstract][Full Text] [Related]
45. Simplified Canadian Definition for Familial Hypercholesterolemia.
Ruel I; Brisson D; Aljenedil S; Awan Z; Baass A; Bélanger A; Bergeron J; Bewick D; Brophy JM; Brunham LR; Couture P; Dufour R; Francis GA; Frohlich J; Gagné C; Gaudet D; Grégoire JC; Gupta M; Hegele RA; Mancini GBJ; McCrindle BW; Pang J; Raggi P; Tu JV; Watts GF; Genest J
Can J Cardiol; 2018 Sep; 34(9):1210-1214. PubMed ID: 30093300
[TBL] [Abstract][Full Text] [Related]
46. Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.
Futema M; Shah S; Cooper JA; Li K; Whittall RA; Sharifi M; Goldberg O; Drogari E; Mollaki V; Wiegman A; Defesche J; D'Agostino MN; D'Angelo A; Rubba P; Fortunato G; Waluś-Miarka M; Hegele RA; Aderayo Bamimore M; Durst R; Leitersdorf E; Mulder MT; Roeters van Lennep JE; Sijbrands EJ; Whittaker JC; Talmud PJ; Humphries SE
Clin Chem; 2015 Jan; 61(1):231-8. PubMed ID: 25414277
[TBL] [Abstract][Full Text] [Related]
47. A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia).
Bertolini S; Lelli N; Coviello DA; Ghisellini M; Masturzo P; Tiozzo R; Elicio N; Gaddi A; Calandra S
Am J Hum Genet; 1992 Jul; 51(1):123-34. PubMed ID: 1609792
[TBL] [Abstract][Full Text] [Related]
48. 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]
49. Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.
Humphries SE; Cranston T; Allen M; Middleton-Price H; Fernandez MC; Senior V; Hawe E; Iversen A; Wray R; Crook MA; Wierzbicki AS
J Mol Med (Berl); 2006 Mar; 84(3):203-14. PubMed ID: 16389549
[TBL] [Abstract][Full Text] [Related]
50. Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia. FH-Espoo.
Koivisto PV; Koivisto UM; Kovanen PT; Gylling H; Miettinen TA; Kontula K
Arterioscler Thromb; 1993 Nov; 13(11):1680-8. PubMed ID: 8218110
[TBL] [Abstract][Full Text] [Related]
51. Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.
Takada D; Emi M; Ezura Y; Nobe Y; Kawamura K; Iino Y; Katayama Y; Xin Y; Wu LL; Larringa-Shum S; Stephenson SH; Hunt SC; Hopkins PN
J Hum Genet; 2002; 47(12):656-64. PubMed ID: 12522687
[TBL] [Abstract][Full Text] [Related]
52. 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]
53. Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations.
Steyn K; Goldberg YP; Kotze MJ; Steyn M; Swanepoel AS; Fourie JM; Coetzee GA; Van der Westhuyzen DR
Hum Genet; 1996 Oct; 98(4):479-84. PubMed ID: 8792826
[TBL] [Abstract][Full Text] [Related]
54. Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia.
Punzalan FE; Sy RG; Santos RS; Cutiongco EM; Gosiengfiao S; Fadriguilan E; George P; Laurie A
J Atheroscler Thromb; 2005; 12(5):276-83. PubMed ID: 16205024
[TBL] [Abstract][Full Text] [Related]
55. Comparison of the effect of two low-density lipoprotein receptor class mutations on coronary heart disease among French-Canadian patients heterozygous for familial hypercholesterolaemia.
Vohl MC; Gaudet D; Moorjani S; Tremblay G; Perron P; Gagné C; Lesiège D; Bergeron J; Lupien PJ; Després JP
Eur J Clin Invest; 1997 May; 27(5):366-73. PubMed ID: 9179542
[TBL] [Abstract][Full Text] [Related]
56. 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; 10(6):1397-1405.e2. PubMed ID: 27919357
[TBL] [Abstract][Full Text] [Related]
57. P1A1/A2 polymorphism of platelet glycoprotein IIIa and risk of acute coronary syndromes in heterozygous familial hypercholesterolemia.
Cenarro A; Casao E; Civeira F; Jensen HK; Faergeman O; Pocoví M
Atherosclerosis; 1999 Mar; 143(1):99-104. PubMed ID: 10208484
[TBL] [Abstract][Full Text] [Related]
58. 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]
59. Detection of a novel exon 4 low-density lipoprotein receptor gene deletion in a swiss family with severe familial hypercholesterolemia.
Neff D; Ruschitzka F; Hersberger M; Enseleit F; Hürlimann D; Noll G; Lüscher T; Hänseler E
Clin Chem Lab Med; 2003 Mar; 41(3):266-71. PubMed ID: 12705331
[TBL] [Abstract][Full Text] [Related]
60. 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]
[Previous] [Next] [New Search]