150 related articles for article (PubMed ID: 12124988)
1. 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]
2. 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]
3. The UMD-p53 database: new mutations and analysis tools.
Béroud C; Soussi T
Hum Mutat; 2003 Mar; 21(3):176-81. PubMed ID: 12619103
[TBL] [Abstract][Full Text] [Related]
4. A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.
Frederic MY; Hamroun D; Faivre L; Boileau C; Jondeau G; Claustres M; Béroud C; Collod-Béroud G
Hum Mutat; 2008 Jan; 29(1):33-8. PubMed ID: 17935258
[TBL] [Abstract][Full Text] [Related]
5. The human FOXL2 mutation database.
Beysen D; Vandesompele J; Messiaen L; De Paepe A; De Baere E
Hum Mutat; 2004 Sep; 24(3):189-93. PubMed ID: 15300845
[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. UMD (Universal Mutation Database): 2005 update.
Béroud C; Hamroun D; Collod-Béroud G; Boileau C; Soussi T; Claustres M
Hum Mutat; 2005 Sep; 26(3):184-91. PubMed ID: 16086365
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. [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]
10. 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]
11. Update of the molecular basis of familial hypercholesterolemia in The Netherlands.
Fouchier SW; Kastelein JJ; Defesche JC
Hum Mutat; 2005 Dec; 26(6):550-6. PubMed ID: 16250003
[TBL] [Abstract][Full Text] [Related]
12. Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
Amsellem S; Briffaut D; Carrié A; Rabès JP; Girardet JP; Fredenrich A; Moulin P; Krempf M; Reznik Y; Vialettes B; de Gennes JL; Brukert E; Benlian P
Hum Genet; 2002 Dec; 111(6):501-10. PubMed ID: 12436241
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. [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]
15. UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.
Baux D; Faugère V; Larrieu L; Le Guédard-Méreuze S; Hamroun D; Béroud C; Malcolm S; Claustres M; Roux AF
Hum Mutat; 2008 Aug; 29(8):E76-87. PubMed ID: 18484607
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Tuffery-Giraud S; Béroud C; Leturcq F; Yaou RB; Hamroun D; Michel-Calemard L; Moizard MP; Bernard R; Cossée M; Boisseau P; Blayau M; Creveaux I; Guiochon-Mantel A; de Martinville B; Philippe C; Monnier N; Bieth E; Khau Van Kien P; Desmet FO; Humbertclaude V; Kaplan JC; Chelly J; Claustres M
Hum Mutat; 2009 Jun; 30(6):934-45. PubMed ID: 19367636
[TBL] [Abstract][Full Text] [Related]
18. LDL-receptor mutations in Europe.
Dedoussis GV; Schmidt H; Genschel J
Hum Mutat; 2004 Dec; 24(6):443-59. PubMed ID: 15523646
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]