142 related articles for article (PubMed ID: 9399845)
1. LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.
Varret M; Rabés JP; Thiart R; Kotze MJ; Baron H; Cenarro A; Descamps O; Ebhardt M; Hondelijn JC; Kostner GM; Miyake Y; Pocovi M; Schmidt H; Schuster H; Stuhrmann M; Yamamura T; Junien C; Béroud C; Boileau C
Nucleic Acids Res; 1998 Jan; 26(1):248-52. PubMed ID: 9399845
[TBL] [Abstract][Full Text] [Related]
2. The UMD-LDLR database: additions to the software and 490 new entries to the database.
Villéger L; Abifadel M; Allard D; Rabès JP; Thiart R; Kotze MJ; Béroud C; Junien C; Boileau C; Varret M
Hum Mutat; 2002 Aug; 20(2):81-7. PubMed ID: 12124988
[TBL] [Abstract][Full Text] [Related]
3. Marfan Database (third edition): new mutations and new routines for the software.
Collod-Béroud G; Béroud C; Ades L; Black C; Boxer M; Brock DJ; Holman KJ; de Paepe A; Francke U; Grau U; Hayward C; Klein HG; Liu W; Nuytinck L; Peltonen L; Alvarez Perez AB; Rantamäki T; Junien C; Boileau C
Nucleic Acids Res; 1998 Jan; 26(1):229-3. PubMed ID: 9399842
[TBL] [Abstract][Full Text] [Related]
4. Software and database for the analysis of mutations in the human LDL receptor gene.
Varret M; Rabès JP; Collod-Béroud G; Junien C; Boileau C; Béroud C
Nucleic Acids Res; 1997 Jan; 25(1):172-80. PubMed ID: 9016531
[TBL] [Abstract][Full Text] [Related]
5. Two novel D151Y and M391T LDLR mutations causing LDLR transport defects in Thai patients with familial hypercholesterolemia.
Jeenduang N; Ruangpracha A; Promptmas C; Pongrapeeporn KU; Porntadavity S
Clin Chim Acta; 2010 Nov; 411(21-22):1656-61. PubMed ID: 20599862
[TBL] [Abstract][Full Text] [Related]
6. Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.
Etxebarria A; Benito-Vicente A; Stef M; Ostolaza H; Palacios L; Martin C
Atherosclerosis; 2015 Feb; 238(2):304-12. PubMed ID: 25545329
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.
Salazar LA; Hirata MH; Cavalli SA; Nakandakare ER; Forti N; Diament J; Giannini SD; Bertolami MC; Hirata RD
Hum Mutat; 2002 Apr; 19(4):462-3. PubMed ID: 11933210
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.
Leigh SE; Foster AH; Whittall RA; Hubbart CS; Humphries SE
Ann Hum Genet; 2008 Jul; 72(Pt 4):485-98. PubMed ID: 18325082
[TBL] [Abstract][Full Text] [Related]
12. 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
[TBL] [Abstract][Full Text] [Related]
13. Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair.
Jeon H; Meng W; Takagi J; Eck MJ; Springer TA; Blacklow SC
Nat Struct Biol; 2001 Jun; 8(6):499-504. PubMed ID: 11373616
[TBL] [Abstract][Full Text] [Related]
14. Software and database for the analysis of mutations in the VHL gene.
Béroud C; Joly D; Gallou C; Staroz F; Orfanelli MT; Junien C
Nucleic Acids Res; 1998 Jan; 26(1):256-8. PubMed ID: 9399847
[TBL] [Abstract][Full Text] [Related]
15. [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]
16. The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Jiang L; Sun LY; Dai YF; Yang SW; Zhang F; Wang LY
Sci Rep; 2015 Nov; 5():17272. PubMed ID: 26608663
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition.
Benito-Vicente A; Uribe KB; Siddiqi H; Jebari S; Galicia-Garcia U; Larrea-Sebal A; Cenarro A; Stef M; Ostolaza H; Civeira F; Palacios L; Martin C
PLoS One; 2018; 13(10):e0204771. PubMed ID: 30332439
[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]
