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23 in total

1. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge.

Authors: W T Friedewald; R I Levy; D S Fredrickson
Journal: Clin Chem Date: 1972-06 Impact factor: 8.327

2. Preferential cholesteryl ester acceptors among the LDL subspecies of subjects with familial hypercholesterolemia.

Authors: M Guérin; P J Dolphin; M J Chapman
Journal: Arterioscler Thromb Date: 1994-05

3. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.

Authors: L F Soria; E H Ludwig; H R Clarke; G L Vega; S M Grundy; B J McCarthy
Journal: Proc Natl Acad Sci U S A Date: 1989-01 Impact factor: 11.205

4. Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.

Authors: Mariame El Messal; Karima Aït Chihab; Rachid Chater; Joan Carles Vallvé; Faïza Bennis; Aïcha Hafidi; Josep Ribalta; Mathilde Varret; Mohammed Loutfi; Jean Pierre Rabès; Anass Kettani; Catherine Boileau; Luis Masana; Ahmed Adlouni
Journal: J Hum Genet Date: 2003-03-18 Impact factor: 3.172

5. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.

Authors: Marianne Abifadel; Mathilde Varret; Jean-Pierre Rabès; Delphine Allard; Khadija Ouguerram; Martine Devillers; Corinne Cruaud; Suzanne Benjannet; Louise Wickham; Danièle Erlich; Aurélie Derré; Ludovic Villéger; Michel Farnier; Isabel Beucler; Eric Bruckert; Jean Chambaz; Bernard Chanu; Jean-Michel Lecerf; Gerald Luc; Philippe Moulin; Jean Weissenbach; Annick Prat; Michel Krempf; Claudine Junien; Nabil G Seidah; Catherine Boileau
Journal: Nat Genet Date: 2003-06 Impact factor: 38.330

6. Liver-specific overexpression of scavenger receptor BI decreases levels of very low density lipoprotein ApoB, low density lipoprotein ApoB, and high density lipoprotein in transgenic mice.

Authors: N Wang; T Arai; Y Ji; F Rinninger; A R Tall
Journal: J Biol Chem Date: 1998-12-04 Impact factor: 5.157

7. Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia.

Authors: P R W de Sauvage Nolting; J C Defesche; R J A Buirma; B A Hutten; P J Lansberg; J J P Kastelein
Journal: J Intern Med Date: 2003-02 Impact factor: 8.989

8. Beta-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-alpha-lipoproteinaemia.

Authors: M Pocovi; A Cenarro; F Civeira; M A Torralba; J I Perez-Calvo; P Mozas; P Giraldo; M Giralt; R H Myers; L A Cupples; J M Ordovas
Journal: Lancet Date: 1998-06-27 Impact factor: 79.321

9. Mutations in the gene for lipoprotein lipase. A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia.

Authors: S N Pimstone; S E Gagné; C Gagné; P J Lupien; D Gaudet; R R Williams; M Kotze; P W Reymer; J C Defesche; J J Kastelein
Journal: Arterioscler Thromb Vasc Biol Date: 1995-10 Impact factor: 8.311

10. Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype.

Authors: X M Sun; D D Patel; J C Webb; B L Knight; L M Fan; H J Cai; A K Soutar
Journal: Arterioscler Thromb Date: 1994-01

1 in total

1. Autosomal recessive hypercholesterolaemia in a Morrocan family due to a mutation of the G266C LDL receptor.

Authors: Siham El Aziz; Asma Chadli; Hassan El Ghomari; Ahmed Farouqi
Journal: BMJ Case Rep Date: 2012-05-23

1 in total